Mercurial > repos > jjohnson > snpeff
annotate snpEff.xml @ 22:bb0797deab78 draft
Uploaded
| author | jjohnson |
|---|---|
| date | Wed, 09 Dec 2015 10:20:13 -0500 |
| parents | c780e3f75b3d |
| children | 924af057bbca |
| rev | line source |
|---|---|
| 22 | 1 <tool id="snpEff" name="SnpEff" version="@WRAPPER_VERSION@.0"> |
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2 <description>Variant effect and annotation</description> |
| 7 | 3 <macros> |
| 4 <import>snpEff_macros.xml</import> | |
| 5 </macros> | |
| 22 | 6 <expand macro="requirements" /> |
| 7 <expand macro="stdio" /> | |
| 8 <expand macro="version_command" /> | |
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9 <command> |
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10 <![CDATA[ |
| 22 | 11 java -Xmx6G -jar \$SNPEFF_JAR_PATH/snpEff.jar eff |
| 12 -c \$SNPEFF_JAR_PATH/snpEff.config | |
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13 -i $inputFormat -o ${outputConditional.outputFormat} -upDownStreamLen $udLength |
| 7 | 14 #if $spliceSiteSize and $spliceSiteSize.__str__ != '': |
| 15 -spliceSiteSize $spliceSiteSize | |
| 16 #end if | |
| 22 | 17 #if $spliceRegion.setSpliceRegions == 'yes': |
| 18 #if $spliceRegion.spliceRegionExonSize and $spliceRegion.spliceRegionExonSize.__str__ != '': | |
| 19 -spliceRegionExonSize $spliceRegion.spliceRegionExonSize | |
| 20 #end if | |
| 21 #if $spliceRegion.spliceRegionIntronMin and $spliceRegion.spliceRegionIntronMin.__str__ != '': | |
| 22 -spliceRegionIntronMin $spliceRegion.spliceRegionIntronMin | |
| 23 #end if | |
| 24 #if $spliceRegion.spliceRegionIntronMax and $spliceRegion.spliceRegionIntronMax.__str__ != '': | |
| 25 -spliceRegionIntronMax $spliceRegion.spliceRegionIntronMax | |
| 26 #end if | |
| 7 | 27 #end if |
| 28 #if $filterHomHet and $filterHomHet.__str__ != 'no_filter': | |
| 22 | 29 $filterHomHet |
| 7 | 30 #end if |
| 31 #if $annotations and $annotations.__str__ != '': | |
| 32 #echo " " | |
| 33 #echo ' '.join($annotations.__str__.split(',')) | |
| 34 #end if | |
| 35 #if $filterOut and $filterOut.__str__ != '': | |
| 36 #echo " " | |
| 37 #echo ' '.join($filterOut.__str__.split(',')) | |
| 38 #end if | |
| 22 | 39 #if $filter.specificEffects == 'yes' and $filter.effects: |
| 40 #for $eff in str($filter.effects).split(','): | |
| 41 -no $eff | |
| 42 #end for | |
| 43 #end if | |
| 7 | 44 #if str( $transcripts ) != 'None': |
| 45 -onlyTr $transcripts | |
| 46 #end if | |
| 47 #if str( $intervals ) != 'None': ### fix this for multiple dataset input | |
| 48 -interval $intervals | |
| 49 #end if | |
| 50 #if $statsFile: | |
| 22 | 51 -stats $statsFile |
| 7 | 52 #end if |
| 16 | 53 #if $offset.__str__ != 'default': |
| 22 | 54 ${offset} |
| 7 | 55 #end if |
| 56 #if $chr.__str__.strip() != '': | |
| 22 | 57 -chr "$chr" |
| 7 | 58 #end if |
| 22 | 59 $noLog |
| 7 | 60 #if $snpDb.genomeSrc == 'cached': |
| 61 -dataDir ${snpDb.genomeVersion.fields.path} | |
| 62 #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': | |
| 63 #echo " " | |
| 64 #echo ' '.join($snpDb.extra_annotations.__str__.split(',')) | |
| 65 #end if | |
| 66 #if $snpDb.regulation and $snpDb.regulation.__str__ != '': | |
| 67 -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# | |
| 68 #end if | |
| 69 $snpDb.genomeVersion | |
| 70 #elif $snpDb.genomeSrc == 'history': | |
| 71 -dataDir ${snpDb.snpeff_db.extra_files_path} | |
| 72 #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': | |
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73 #set xannotations = [' '] + $snpDb.extra_annotations.__str__.split(',') |
| 7 | 74 #echo " " |
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75 #echo ' -'.join($xannotations) |
| 7 | 76 #end if |
| 77 #if $snpDb.regulation and $snpDb.regulation.__str__ != '': | |
| 78 -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# | |
| 79 #end if | |
| 80 ${snpDb.snpeff_db.metadata.genome_version} | |
| 22 | 81 #else |
| 7 | 82 -download |
| 83 $snpDb.genome_version | |
| 84 #end if | |
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85 $input > $snpeff_output ; |
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86 #if $statsFile: |
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87 #import os |
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88 #set $genes_file = str($statsFile) + '.genes.txt' |
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89 #set $genes_file_name = os.path.split($genes_file)[-1] |
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90 mkdir $statsFile.files_path; |
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91 mv $genes_file #echo os.path.join($statsFile.files_path, $genes_file_name)#; |
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92 #end if |
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93 #if $outputConditional.outputFormat == 'gatk' and $outputConditional.gatk_v1 |
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94 ## 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]" |
| 22 | 95 sed -i -e 's/^\#\#SnpEffVersion="\(\S*\s\)/\#\#SnpEffVersion="2.0.5 - real is \1/' $snpeff_output |
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96 #end if |
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97 ]]> |
| 7 | 98 </command> |
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99 <inputs> |
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100 <param format="vcf,tabular,pileup,bed" name="input" type="data" label="Sequence changes (SNPs, MNPs, InDels)"/> |
| 0 | 101 |
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102 <param name="inputFormat" type="select" label="Input format"> |
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103 <option value="vcf" selected="true">VCF</option> |
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104 <option value="bed">BED (Deprecated)</option> |
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105 </param> |
| 0 | 106 |
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107 <conditional name="outputConditional"> |
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108 <param name="outputFormat" type="select" label="Output format"> |
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109 <option value="vcf" selected="true">VCF (only if input is VCF)</option> |
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110 <option value="gatk">GATK-compatible VCF (only if input is VCF)</option> |
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111 <option value="bed">BED</option> |
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112 <option value="bedAnn">BED annotations</option> |
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113 </param> |
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114 <when value="vcf" /> |
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115 <when value="gatk"> |
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116 <param name="gatk_v1" type="boolean" checked="true" label="Compatible with GATK 1.x" /> |
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117 </when> |
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118 <when value="bed" /> |
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119 <when value="bedAnn" /> |
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120 </conditional> |
| 0 | 121 |
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122 <conditional name="snpDb"> |
| 7 | 123 <param name="genomeSrc" type="select" label="Genome source"> |
| 124 <option value="cached">Locally installed reference genome</option> | |
| 125 <option value="history">Reference genome from your history</option> | |
| 126 <option value="named">Named on demand</option> | |
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127 </param> |
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128 <when value="cached"> |
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129 <param name="genomeVersion" type="select" label="Genome"> |
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130 <!--GENOME DESCRIPTION--> |
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131 <options from_data_table="snpeffv_genomedb"> |
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132 <filter type="static_value" name="snpeff_version" value="@SNPEFF_VERSION@" column="1"/> |
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133 <filter type="unique_value" column="2" /> |
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134 </options> |
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135 </param> |
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136 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional annotations"> |
| 2 | 137 <help>These are available for only a few genomes</help> |
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138 <options from_data_table="snpeffv_annotations"> |
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139 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> |
| 19 | 140 <filter type="unique_value" column="3" /> |
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141 </options> |
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142 </param> |
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143 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation"> |
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144 <help>These are available for only a few genomes</help> |
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145 <options from_data_table="snpeffv_regulationdb"> |
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146 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> |
| 19 | 147 <filter type="unique_value" column="3" /> |
| 2 | 148 </options> |
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149 </param> |
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150 </when> |
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151 <when value="history"> |
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152 <param format="snpeffdb" name="snpeff_db" type="data" label="@SNPEFF_VERSION@ Genome Data"> |
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153 <options options_filter_attribute="metadata.snpeff_version" > |
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154 <filter type="add_value" value="@SNPEFF_VERSION@" /> |
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155 </options> |
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156 <validator type="expression" message="This version of SnpEff will only work with @SNPEFF_VERSION@ Genome databases.">value is not None and value.metadata.snpeff_version == "@SNPEFF_VERSION@"</validator> |
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157 </param> |
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158 <!-- From metadata --> |
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159 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional annotations"> |
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160 <help>These are available for only a few genomes</help> |
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161 <options> |
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162 <filter type="data_meta" ref="snpeff_db" key="annotation" /> |
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163 </options> |
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164 </param> |
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165 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation"> |
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166 <help>These are available for only a few genomes</help> |
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167 <options> |
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168 <filter type="data_meta" ref="snpeff_db" key="regulation" /> |
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169 </options> |
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170 </param> |
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171 </when> |
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172 <when value="named"> |
| 22 | 173 <param name="genome_version" type="text" value="" label="Snpff Genome Version Name (e.g. GRCh38.76)"> |
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174 <help>@SNPEFF_DATABASE_URL@</help> |
| 16 | 175 <validator type="regex" message="A genome version name is required">\S+</validator> |
| 176 </param> | |
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177 </when> |
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178 </conditional> |
| 0 | 179 |
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180 <param name="udLength" type="select" label="Upstream / Downstream length"> |
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181 <option value="0">No upstream / downstream intervals (0 bases)</option> |
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182 <option value="200">200 bases</option> |
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183 <option value="500">500 bases</option> |
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184 <option value="1000">1000 bases</option> |
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185 <option value="2000">2000 bases</option> |
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186 <option value="5000" selected="true">5000 bases</option> |
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187 <option value="10000">10000 bases</option> |
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188 <option value="20000">20000 bases</option> |
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189 </param> |
| 0 | 190 |
| 7 | 191 <param name="spliceSiteSize" type="select" optional="true" label="Set size for splice sites (donor and acceptor) in bases" help="Default: 2"> |
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192 <option value="1">1 base</option> |
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193 <option value="2" selected="true">2 bases</option> |
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194 <option value="3">3 bases</option> |
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195 <option value="4">4 bases</option> |
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196 <option value="5">5 bases</option> |
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197 <option value="6">6 bases</option> |
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198 <option value="7">7 bases</option> |
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199 <option value="8">8 bases</option> |
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200 <option value="9">9 bases</option> |
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201 </param> |
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202 |
| 22 | 203 <conditional name="spliceRegion"> |
| 204 <param name="setSpliceRegions" type="select" label="spliceRegion Settings"> | |
| 205 <option value="no">Use Defaults</option> | |
| 206 <option value="yes">Set Splice Region Parameters</option> | |
| 207 </param> | |
| 208 <when value="no"/> | |
| 209 <when value="yes"> | |
| 210 <param name="spliceRegionExonSize" type="integer" value="" min="1" max="10" optional="true" label="Set size for splice site region within exons. Default: 3 bases"/> | |
| 211 <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"/> | |
| 212 <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"/> | |
| 213 </when> | |
| 214 </conditional> | |
| 215 | |
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216 <param name="filterHomHet" type="select" display="radio" label="Filter homozygous / heterozygous changes"> |
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217 <option value="no_filter" selected="true">No filter (analyze everything)</option> |
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218 <option value="-hom">Analyze homozygous sequence changes only</option> |
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219 <option value="-het">Analyze heterozygous sequence changes only</option> |
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220 </param> |
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221 |
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222 <param name="annotations" type="select" display="checkboxes" multiple="true" label="Annotation options"> |
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223 <option value="-cancer">Perform 'cancer' comparisons (somatic vs. germline)</option> |
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224 <option value="-canon">Only use canonical transcripts</option> |
| 7 | 225 <option value="-geneId">Use gene ID instead of gene name (VCF output)</option> |
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226 <option value="-lof">Add loss of function (LOF) and nonsense mediated decay (NMD) tags</option> |
| 7 | 227 <option value="-oicr">Add OICR tag in VCF file</option> |
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228 <option value="-onlyReg">Only use regulation tracks</option> |
| 12 | 229 <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> |
| 230 <option value="-hgvs">Override classic and use HGVS annotations for amino acid annotations (p.Gly180Arg/c.538G>C vs G180R)</option> | |
| 231 <option value="-sequenceOntology">Override classic and use Sequence Ontolgy terms for effects (missense_variant vs NON_SYNONYMOUS_CODING)</option> | |
| 22 | 232 <option value="-formatEff">Use 'EFF' field compatible with older versions (instead of 'ANN').</option> |
| 233 <option value="-noHgvs">Do not add HGVS annotations.</option> | |
| 234 <option value="-noLof">Do not add LOF and NMD annotations.</option> | |
| 235 <option value="-noShiftHgvs">Do not shift variants according to HGVS notation (most 3prime end).</option> | |
| 236 <option value="-oicr">Add OICR tag in VCF file. Default: false</option> | |
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237 </param> |
| 22 | 238 <!-- -cancerSamples <file> : Two column TXT file defining 'oringinal \t derived' samples. --> |
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239 <param name="intervals" format="bed" type="data" optional="true" label="Use custom interval file for annotation"/> |
| 7 | 240 <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."/> |
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241 <param name="filterOut" type="select" display="checkboxes" multiple="true" label="Filter output"> |
| 7 | 242 <option value="-no-downstream">Do not show DOWNSTREAM changes</option> |
| 243 <option value="-no-intergenic">Do not show INTERGENIC changes</option> | |
| 244 <option value="-no-intron">Do not show INTRON changes</option> | |
| 245 <option value="-no-upstream">Do not show UPSTREAM changes</option> | |
| 246 <option value="-no-utr">Do not show 5_PRIME_UTR or 3_PRIME_UTR changes</option> | |
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247 </param> |
| 22 | 248 <conditional name="filter"> |
| 249 <param name="specificEffects" type="select" label="Filter out specific Effects"> | |
| 250 <option value="no">No</option> | |
| 251 <option value="yes">Yes</option> | |
| 252 </param> | |
| 253 <when value="no"/> | |
| 254 <when value="yes"> | |
| 255 <param name="effects" type="select" display="checkboxes" multiple="true" label="Filter output: do not report these Effects"> | |
| 256 <option value="CDS">CDS (coding_sequence_variant) The variant hits a CDS. MODIFIER</option> | |
| 257 <option value="CHROMOSOME_LARGE_DELETION">CHROMOSOME_LARGE_DELETION (chromosome) A large parte (over 1%) of the chromosome was deleted. HIGH</option> | |
| 258 <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> | |
| 259 <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> | |
| 260 <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> | |
| 261 <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> | |
| 262 <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> | |
| 263 <option value="DOWNSTREAM">DOWNSTREAM (downstream_gene_variant) Downstream of a gene (default length: 5K bases) MODIFIER</option> | |
| 264 <option value="EXON">EXON (exon_variant) The variant hits an exon (from a non-coding transcript) or a retained intron. MODIFIER</option> | |
| 265 <option value="EXON_DELETED">EXON_DELETED (exon_loss_variant) A deletion removes the whole exon. HIGH</option> | |
| 266 <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> | |
| 267 <option value="GENE">GENE (gene_variant) The variant hits a gene. MODIFIER</option> | |
| 268 <option value="INTERGENIC">INTERGENIC (intergenic_region) The variant is in an intergenic region MODIFIER</option> | |
| 269 <option value="INTERGENIC_CONSERVED">INTERGENIC_CONSERVED (conserved_intergenic_variant) The variant is in a highly conserved intergenic region MODIFIER</option> | |
| 270 <option value="INTRAGENIC">INTRAGENIC (intragenic_variant) The variant hits a gene, but no transcripts within the gene MODIFIER</option> | |
| 271 <option value="INTRON">INTRON (intron_variant) Variant hits and intron. Technically, hits no exon in the transcript. MODIFIER</option> | |
| 272 <option value="INTRON_CONSERVED">INTRON_CONSERVED (conserved_intron_variant) The variant is in a highly conserved intronic region MODIFIER</option> | |
| 273 <option value="MICRO_RNA">MICRO_RNA (miRNA) Variant affects an miRNA MODIFIER</option> | |
| 274 <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> | |
| 275 <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> | |
| 276 <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> | |
| 277 <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> | |
| 278 <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> | |
| 279 <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> | |
| 280 <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> | |
| 281 <option value="SPLICE_SITE_BRANCH">SPLICE_SITE_BRANCH (splice_region_variant) A varaint affective putative (Lariat) branch point, located in the intron. LOW</option> | |
| 282 <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> | |
| 283 <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> | |
| 284 <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> | |
| 285 <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> | |
| 286 <option value="STOP_GAINED">STOP_GAINED (stop_gained) Variant causes a STOP codon e.g.: Cag/Tag, Q/* HIGH</option> | |
| 287 <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> | |
| 288 <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> | |
| 289 <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> | |
| 290 <option value="TRANSCRIPT">TRANSCRIPT (transcript_variant) The variant hits a transcript. MODIFIER</option> | |
| 291 <option value="REGULATION">REGULATION (regulatory_region_variant) The variant hits a known regulatory feature (non-coding). MODIFIER</option> | |
| 292 <option value="UPSTREAM">UPSTREAM (upstream_gene_variant) Upstream of a gene (default length: 5K bases) MODIFIER</option> | |
| 293 <option value="UTR_3_PRIME">UTR_3_PRIME (3_prime_UTR_variant) Variant hits 3'UTR region MODIFIER</option> | |
| 294 <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> | |
| 295 <option value="UTR_5_PRIME">UTR_5_PRIME (5_prime_UTR_variant) Variant hits 5'UTR region MODIFIER</option> | |
| 296 <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> | |
| 297 <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> | |
| 298 | |
| 299 </param> | |
| 300 </when> | |
| 301 </conditional> | |
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302 |
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303 <param name="offset" type="select" display="radio" optional="true" label="Chromosomal position"> |
| 16 | 304 <option value="default" selected="true">Use default (based on input type)</option> |
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305 <option value="-0">Force zero-based positions (both input and output)</option> |
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306 <option value="-1">Force one-based positions (both input and output)</option> |
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307 </param> |
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308 <param name="chr" type="text" optionl="true" label="Text to prepend to chromosome name"> |
| 7 | 309 <help> |
| 310 By default SnpEff simplifies all chromosome names. For instance 'chr1' is just '1'. | |
| 311 You can prepend any string you want to the chromosome name. | |
| 312 </help> | |
| 313 <validator type="regex" message="No whitespace allowed">^\S*$</validator> | |
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314 </param> |
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315 <param name="generate_stats" type="boolean" truevalue="" falsevalue="-noStats" checked="true" label="Produce Summary Stats"/> |
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316 <param name="noLog" type="boolean" truevalue="-noLog" falsevalue="" checked="true" label="Do not report usage statistics to server"/> |
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317 </inputs> |
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318 <outputs> |
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319 <data format="vcf" name="snpeff_output" > |
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320 <change_format> |
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321 <when input="outputConditional.outputFormat" value="bed" format="bed" /> |
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322 <when input="outputConditional.outputFormat" value="bedAnn" format="bed" /> |
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323 </change_format> |
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324 </data> |
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325 <data format="html" name="statsFile" label="${tool.name} on ${on_string} - stats"> |
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326 <filter>generate_stats == True</filter> |
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327 </data> |
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328 </outputs> |
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329 <tests> |
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330 <!-- Check that an effect was added in out VCF --> |
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331 <!-- Check for a HTML header indicating that this was successful --> |
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332 <!-- |
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333 <output name="statsFile"> |
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334 <assert_contents> |
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335 <has_text text="SnpEff: Variant analysis" /> |
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336 </assert_contents> |
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337 </output> |
| 22 | 338 --> |
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339 <!-- Setting filterOut throws exception in twilltestcase.py |
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340 <test> |
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341 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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342 <param name="inputFormat" value="vcf"/> |
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343 <param name="outputFormat" value="vcf"/> |
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344 <param name="genomeSrc" value="named"/> |
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345 <param name="genome_version" value="testCase"/> |
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346 <param name="udLength" value="0"/> |
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347 <param name="filterHomHet" value="no_filter"/> |
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348 <param name="generate_stats" value="False"/> |
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349 <param name="filterOut" value="+-no-upstream"/> |
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350 <output name="snpeff_output"> |
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351 <assert_contents> |
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352 <has_text text="EFF=" /> |
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353 </assert_contents> |
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354 </output> |
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355 </test> |
| 22 | 356 --> |
| 0 | 357 |
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358 <test> |
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359 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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360 <param name="inputFormat" value="vcf"/> |
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361 <param name="outputFormat" value="vcf"/> |
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362 <param name="genomeSrc" value="named"/> |
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363 <param name="genome_version" value="testCase"/> |
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364 <param name="udLength" value="0"/> |
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365 <param name="filterHomHet" value="+-het"/> |
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366 <!-- |
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367 <param name="filterOut" value=""/> |
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368 --> |
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369 <param name="generate_stats" value="False"/> |
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370 <output name="snpeff_output"> |
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371 <assert_contents> |
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372 <!-- Check that NO effects were added since -het is set --> |
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373 <not_has_text text="EFF=NON_SYNONYMOUS_CODING" /> |
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374 </assert_contents> |
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375 </output> |
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376 </test> |
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377 |
|
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378 <test> |
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379 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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380 <param name="inputFormat" value="vcf"/> |
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381 <param name="outputFormat" value="vcf"/> |
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382 <param name="genomeSrc" value="named"/> |
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383 <param name="genome_version" value="testCase"/> |
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384 <param name="udLength" value="0"/> |
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385 <param name="filterHomHet" value="no_filter"/> |
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386 <!-- |
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387 <param name="filterOut" value=""/> |
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388 --> |
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389 <param name="generate_stats" value="False"/> |
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390 <output name="snpeff_output"> |
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391 <assert_contents> |
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392 <!-- Check that deleletions were evaluated --> |
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393 <has_text_matching expression="Y\t59030478\t.*EFF=INTERGENIC" /> |
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394 <!-- Check that insertion on last line was NOT evaluated --> |
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395 <has_text_matching expression="Y\t59032947\t.*SF=5\tGT" /> |
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396 </assert_contents> |
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397 </output> |
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398 </test> |
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399 |
|
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400 <!-- Check that NO UPSTREAM effect was added --> |
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401 <!-- Setting filterOut throws exception in twilltestcase.py |
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402 <test> |
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403 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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404 <param name="inputFormat" value="vcf"/> |
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405 <param name="outputFormat" value="vcf"/> |
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406 <param name="genomeSrc" value="named"/> |
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407 <param name="genome_version" value="testCase"/> |
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408 <param name="udLength" value="0"/> |
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409 <param name="filterHomHet" value="no_filter"/> |
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410 <param name="filterOut" value="+-no-upstream"/> |
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411 <param name="generate_stats" value="False"/> |
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412 <output name="snpeff_output"> |
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413 <assert_contents> |
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414 <not_has_text text="UPSTREAM" /> |
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415 </assert_contents> |
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416 </output> |
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417 </test> |
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418 --> |
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419 |
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420 </tests> |
| 22 | 421 <help><![CDATA[ |
| 0 | 422 |
| 423 This tool calculate the effect of variants (SNPs/MNPs/Insertions) and deletions. | |
| 424 | |
| 7 | 425 @EXTERNAL_DOCUMENTATION@ |
| 0 | 426 |
| 7 | 427 @CITATION_SECTION@ |
|
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428 |
| 22 | 429 ]]> |
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430 </help> |
|
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431 <expand macro="citations" /> |
| 0 | 432 </tool> |
| 433 |
