Mercurial > repos > jjohnson > snpeff
annotate snpEff.xml @ 18:36f3c82323e6
Use tool_data_table with key and version columns added to allow for multiple versions in a .loc file
author | Jim Johnson <jj@umn.edu> |
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date | Tue, 13 Jan 2015 13:36:11 -0600 |
parents | 13d81e5226cd |
children | 2e37b58fc24d |
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1 <tool id="snpEff" name="SnpEff" version="@WRAPPER_VERSION@.2"> |
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2 <description>Variant effect and annotation</description> |
7 | 3 <expand macro="requirements" /> |
4 <macros> | |
5 <import>snpEff_macros.xml</import> | |
6 </macros> | |
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7 <command> |
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8 <![CDATA[ |
7 | 9 java -Xmx6G -jar \$SNPEFF_JAR_PATH/snpEff.jar eff |
10 -c \$SNPEFF_JAR_PATH/snpEff.config | |
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11 -i $inputFormat -o ${outputConditional.outputFormat} -upDownStreamLen $udLength |
7 | 12 #if $spliceSiteSize and $spliceSiteSize.__str__ != '': |
13 -spliceSiteSize $spliceSiteSize | |
14 #end if | |
15 #if $filterIn and $filterIn.__str__ != 'no_filter': | |
16 $filterIn | |
17 #end if | |
18 #if $filterHomHet and $filterHomHet.__str__ != 'no_filter': | |
19 $filterHomHet | |
20 #end if | |
21 #if $annotations and $annotations.__str__ != '': | |
22 #echo " " | |
23 #echo ' '.join($annotations.__str__.split(',')) | |
24 #end if | |
25 #if $filterOut and $filterOut.__str__ != '': | |
26 #echo " " | |
27 #echo ' '.join($filterOut.__str__.split(',')) | |
28 #end if | |
29 #if str( $transcripts ) != 'None': | |
30 -onlyTr $transcripts | |
31 #end if | |
32 #if str( $intervals ) != 'None': ### fix this for multiple dataset input | |
33 -interval $intervals | |
34 #end if | |
35 #if $statsFile: | |
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36 -stats $statsFile |
7 | 37 #end if |
16 | 38 #if $offset.__str__ != 'default': |
7 | 39 ${offset} |
40 #end if | |
41 #if $chr.__str__.strip() != '': | |
42 -chr "$chr" | |
43 #end if | |
16 | 44 $noLog |
7 | 45 #if $snpDb.genomeSrc == 'cached': |
46 -dataDir ${snpDb.genomeVersion.fields.path} | |
47 #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': | |
48 #echo " " | |
49 #echo ' '.join($snpDb.extra_annotations.__str__.split(',')) | |
50 #end if | |
51 #if $snpDb.regulation and $snpDb.regulation.__str__ != '': | |
52 -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# | |
53 #end if | |
54 $snpDb.genomeVersion | |
55 #elif $snpDb.genomeSrc == 'history': | |
56 -dataDir ${snpDb.snpeff_db.extra_files_path} | |
57 #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': | |
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58 #set xannotations = [' '] + $snpDb.extra_annotations.__str__.split(',') |
7 | 59 #echo " " |
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60 #echo ' -'.join($xannotations) |
7 | 61 #end if |
62 #if $snpDb.regulation and $snpDb.regulation.__str__ != '': | |
63 -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# | |
64 #end if | |
65 ${snpDb.snpeff_db.metadata.genome_version} | |
66 #else | |
67 -download | |
68 $snpDb.genome_version | |
69 #end if | |
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70 $input > $snpeff_output ; |
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71 #if $statsFile: |
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72 #import os |
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73 #set $genes_file = str($statsFile) + '.genes.txt' |
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74 #set $genes_file_name = os.path.split($genes_file)[-1] |
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75 mkdir $statsFile.files_path; |
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76 mv $genes_file #echo os.path.join($statsFile.files_path, $genes_file_name)#; |
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77 #end if |
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78 #if $outputConditional.outputFormat == 'gatk' and $outputConditional.gatk_v1 |
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79 ## 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]" |
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80 sed -i 's/^\#\#SnpEffVersion="\(\S*\s\)/\#\#SnpEffVersion="2.0.5 - real is \1/' $snpeff_output |
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81 #end if |
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82 ]]> |
7 | 83 </command> |
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84 <inputs> |
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85 <param format="vcf,tabular,pileup,bed" name="input" type="data" label="Sequence changes (SNPs, MNPs, InDels)"/> |
0 | 86 |
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87 <param name="inputFormat" type="select" label="Input format"> |
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88 <option value="vcf" selected="true">VCF</option> |
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89 <option value="txt">Tabular (Deprecated)</option> |
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90 <option value="pileup">Pileup (Deprecated)</option> |
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91 <option value="bed">BED (Deprecated)</option> |
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92 </param> |
0 | 93 |
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94 <conditional name="outputConditional"> |
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95 <param name="outputFormat" type="select" label="Output format"> |
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96 <option value="vcf" selected="true">VCF (only if input is VCF)</option> |
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97 <option value="gatk">GATK-compatible VCF (only if input is VCF)</option> |
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98 <option value="txt">Tabular</option> |
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99 <option value="bed">BED</option> |
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100 <option value="bedAnn">BED annotations</option> |
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101 </param> |
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102 <when value="vcf" /> |
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103 <when value="gatk"> |
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104 <param name="gatk_v1" type="boolean" checked="true" label="Compatible with GATK 1.x" /> |
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105 </when> |
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106 <when value="txt" /> |
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107 <when value="bed" /> |
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108 <when value="bedAnn" /> |
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109 </conditional> |
0 | 110 |
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111 <conditional name="snpDb"> |
7 | 112 <param name="genomeSrc" type="select" label="Genome source"> |
113 <option value="cached">Locally installed reference genome</option> | |
114 <option value="history">Reference genome from your history</option> | |
115 <option value="named">Named on demand</option> | |
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116 </param> |
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117 <when value="cached"> |
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118 <param name="genomeVersion" type="select" label="Genome"> |
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119 <!--GENOME DESCRIPTION--> |
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120 <options from_data_table="snpeffv_genomedb"> |
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121 <filter type="static_value" name="snpeff_version" value="SnpEff4.1" column="1"/> |
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122 <filter type="unique_value" column="2" /> |
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123 </options> |
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124 </param> |
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125 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional annotations"> |
2 | 126 <help>These are available for only a few genomes</help> |
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127 <options from_data_table="snpeffv_annotations"> |
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128 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> |
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129 <filter type="unique_value" column="1" /> |
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130 </options> |
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131 </param> |
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132 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation"> |
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133 <help>These are available for only a few genomes</help> |
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134 <options from_data_table="snpeffv_regulationdb"> |
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135 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> |
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136 <filter type="unique_value" column="1" /> |
2 | 137 </options> |
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138 </param> |
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139 </when> |
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140 <when value="history"> |
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141 <param format="snpeffdbv41" name="snpeff_db" type="data" label="SnpEff Genome Version Data"/> |
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142 <!-- From metadata --> |
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143 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional annotations"> |
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144 <help>These are available for only a few genomes</help> |
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145 <options> |
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146 <filter type="data_meta" ref="snpeff_db" key="annotation" /> |
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147 </options> |
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148 </param> |
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149 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation"> |
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150 <help>These are available for only a few genomes</help> |
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151 <options> |
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152 <filter type="data_meta" ref="snpeff_db" key="regulation" /> |
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153 </options> |
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154 </param> |
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155 </when> |
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156 <when value="named"> |
16 | 157 <param name="genome_version" type="text" size="40" value="" label="Snpff Genome Version Name (e.g. GRCh38.76)"> |
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158 <help>@SNPEFF_DATABASE_URL@</help> |
16 | 159 <validator type="regex" message="A genome version name is required">\S+</validator> |
160 </param> | |
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161 </when> |
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162 </conditional> |
0 | 163 |
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164 <param name="udLength" type="select" label="Upstream / Downstream length"> |
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165 <option value="0">No upstream / downstream intervals (0 bases)</option> |
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166 <option value="200">200 bases</option> |
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167 <option value="500">500 bases</option> |
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168 <option value="1000">1000 bases</option> |
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169 <option value="2000">2000 bases</option> |
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170 <option value="5000" selected="true">5000 bases</option> |
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171 <option value="10000">10000 bases</option> |
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172 <option value="20000">20000 bases</option> |
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173 </param> |
0 | 174 |
7 | 175 <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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176 <option value="1">1 base</option> |
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177 <option value="2" selected="true">2 bases</option> |
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178 <option value="3">3 bases</option> |
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179 <option value="4">4 bases</option> |
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180 <option value="5">5 bases</option> |
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181 <option value="6">6 bases</option> |
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182 <option value="7">7 bases</option> |
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183 <option value="8">8 bases</option> |
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184 <option value="9">9 bases</option> |
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185 </param> |
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186 |
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187 <param name="filterHomHet" type="select" display="radio" label="Filter homozygous / heterozygous changes"> |
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188 <option value="no_filter" selected="true">No filter (analyze everything)</option> |
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189 <option value="-hom">Analyze homozygous sequence changes only</option> |
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190 <option value="-het">Analyze heterozygous sequence changes only</option> |
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191 </param> |
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192 |
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193 <!-- The tool testing code can not handle select,radio,check boxes values that start with '-', so the '-' is added in the command generation --> |
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194 <param name="filterIn" type="select" display="radio" label="Filter sequence changes"> |
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195 <option value="no_filter" selected="true">No filter (analyze everything)</option> |
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196 <option value="-del">Analyze deletions only</option> |
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197 <option value="-ins">Analyze insertions only</option> |
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198 <option value="-mnp">Only MNPs (multiple nucleotide polymorphisms)</option> |
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199 <option value="-snp">Only SNPs (single nucleotide polymorphisms)</option> |
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200 </param> |
2 | 201 |
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202 <param name="annotations" type="select" display="checkboxes" multiple="true" label="Annotation options"> |
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203 <option value="-cancer">Perform 'cancer' comparisons (somatic vs. germline)</option> |
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204 <option value="-canon">Only use canonical transcripts</option> |
7 | 205 <option value="-geneId">Use gene ID instead of gene name (VCF output)</option> |
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206 <option value="-lof">Add loss of function (LOF) and nonsense mediated decay (NMD) tags</option> |
7 | 207 <option value="-oicr">Add OICR tag in VCF file</option> |
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208 <option value="-onlyReg">Only use regulation tracks</option> |
12 | 209 <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> |
210 <option value="-hgvs">Override classic and use HGVS annotations for amino acid annotations (p.Gly180Arg/c.538G>C vs G180R)</option> | |
211 <option value="-sequenceOntology">Override classic and use Sequence Ontolgy terms for effects (missense_variant vs NON_SYNONYMOUS_CODING)</option> | |
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212 </param> |
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213 <param name="intervals" format="bed" type="data" optional="true" label="Use custom interval file for annotation"/> |
7 | 214 <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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215 <param name="filterOut" type="select" display="checkboxes" multiple="true" label="Filter output"> |
7 | 216 <option value="-no-downstream">Do not show DOWNSTREAM changes</option> |
217 <option value="-no-intergenic">Do not show INTERGENIC changes</option> | |
218 <option value="-no-intron">Do not show INTRON changes</option> | |
219 <option value="-no-upstream">Do not show UPSTREAM changes</option> | |
220 <option value="-no-utr">Do not show 5_PRIME_UTR or 3_PRIME_UTR changes</option> | |
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221 </param> |
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222 |
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223 <param name="offset" type="select" display="radio" optional="true" label="Chromosomal position"> |
16 | 224 <option value="default" selected="true">Use default (based on input type)</option> |
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225 <option value="-0">Force zero-based positions (both input and output)</option> |
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226 <option value="-1">Force one-based positions (both input and output)</option> |
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227 </param> |
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228 <param name="chr" type="text" optionl="true" label="Text to prepend to chromosome name"> |
7 | 229 <help> |
230 By default SnpEff simplifies all chromosome names. For instance 'chr1' is just '1'. | |
231 You can prepend any string you want to the chromosome name. | |
232 </help> | |
233 <validator type="regex" message="No whitespace allowed">^\S*$</validator> | |
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234 </param> |
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235 <param name="generate_stats" type="boolean" truevalue="" falsevalue="-noStats" checked="true" label="Produce Summary Stats"/> |
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236 <param name="noLog" type="boolean" truevalue="-noLog" falsevalue="" checked="true" label="Do not report usage statistics to server"/> |
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237 </inputs> |
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238 <outputs> |
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239 <data format="vcf" name="snpeff_output" > |
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240 <change_format> |
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241 <when input="outputConditional.outputFormat" value="txt" format="tabular" /> |
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242 <when input="outputConditional.outputFormat" value="bed" format="bed" /> |
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243 <when input="outputConditional.outputFormat" value="bedAnn" format="bed" /> |
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244 </change_format> |
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245 </data> |
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246 <data format="html" name="statsFile" label="${tool.name} on ${on_string} - stats"> |
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247 <filter>generate_stats == True</filter> |
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248 </data> |
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249 </outputs> |
7 | 250 <expand macro="stdio" /> |
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251 <tests> |
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252 <!-- Check that an effect was added in out VCF --> |
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253 <!-- Check for a HTML header indicating that this was successful --> |
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254 <!-- |
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255 <output name="statsFile"> |
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256 <assert_contents> |
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257 <has_text text="SnpEff: Variant analysis" /> |
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258 </assert_contents> |
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259 </output> |
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260 --> |
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261 <!-- Setting filterOut throws exception in twilltestcase.py |
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262 <test> |
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263 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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264 <param name="inputFormat" value="vcf"/> |
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265 <param name="outputFormat" value="vcf"/> |
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266 <param name="genomeSrc" value="named"/> |
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267 <param name="genome_version" value="testCase"/> |
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268 <param name="udLength" value="0"/> |
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269 <param name="filterHomHet" value="no_filter"/> |
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270 <param name="filterIn" value="no_filter"/> |
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271 <param name="generate_stats" value="False"/> |
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272 <param name="filterOut" value="+-no-upstream"/> |
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273 <output name="snpeff_output"> |
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274 <assert_contents> |
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275 <has_text text="EFF=" /> |
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276 </assert_contents> |
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277 </output> |
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278 </test> |
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279 --> |
0 | 280 |
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281 <test> |
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282 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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283 <param name="inputFormat" value="vcf"/> |
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284 <param name="outputFormat" value="vcf"/> |
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285 <param name="genomeSrc" value="named"/> |
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286 <param name="genome_version" value="testCase"/> |
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287 <param name="udLength" value="0"/> |
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288 <param name="filterHomHet" value="+-het"/> |
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289 <param name="filterIn" value="no_filter"/> |
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290 <!-- |
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291 <param name="filterOut" value=""/> |
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292 --> |
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293 <param name="generate_stats" value="False"/> |
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294 <output name="snpeff_output"> |
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295 <assert_contents> |
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296 <!-- Check that NO effects were added since -het is set --> |
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297 <not_has_text text="EFF=NON_SYNONYMOUS_CODING" /> |
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298 </assert_contents> |
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299 </output> |
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300 </test> |
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301 |
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302 <test> |
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303 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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304 <param name="inputFormat" value="vcf"/> |
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305 <param name="outputFormat" value="vcf"/> |
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306 <param name="genomeSrc" value="named"/> |
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307 <param name="genome_version" value="testCase"/> |
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308 <param name="udLength" value="0"/> |
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309 <param name="filterHomHet" value="no_filter"/> |
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310 <param name="filterIn" value="+-del"/> |
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311 <!-- |
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312 <param name="filterOut" value=""/> |
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313 --> |
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314 <param name="generate_stats" value="False"/> |
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315 <output name="snpeff_output"> |
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316 <assert_contents> |
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317 <!-- Check that deleletions were evaluated --> |
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318 <has_text_matching expression="Y\t59030478\t.*EFF=INTERGENIC" /> |
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319 <!-- Check that insertion on last line was NOT evaluated --> |
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320 <has_text_matching expression="Y\t59032947\t.*SF=5\tGT" /> |
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321 </assert_contents> |
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322 </output> |
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323 </test> |
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324 |
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325 <!-- Check that NO UPSTREAM effect was added --> |
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326 <!-- Setting filterOut throws exception in twilltestcase.py |
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327 <test> |
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328 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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329 <param name="inputFormat" value="vcf"/> |
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330 <param name="outputFormat" value="vcf"/> |
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331 <param name="genomeSrc" value="named"/> |
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332 <param name="genome_version" value="testCase"/> |
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333 <param name="udLength" value="0"/> |
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334 <param name="filterHomHet" value="no_filter"/> |
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335 <param name="filterIn" value="no_filter"/> |
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336 <param name="filterOut" value="+-no-upstream"/> |
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337 <param name="generate_stats" value="False"/> |
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338 <output name="snpeff_output"> |
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339 <assert_contents> |
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340 <not_has_text text="UPSTREAM" /> |
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341 </assert_contents> |
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342 </output> |
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343 </test> |
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344 --> |
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345 |
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346 </tests> |
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347 <help> |
0 | 348 |
349 This tool calculate the effect of variants (SNPs/MNPs/Insertions) and deletions. | |
350 | |
7 | 351 @EXTERNAL_DOCUMENTATION@ |
0 | 352 |
7 | 353 @CITATION_SECTION@ |
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354 |
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355 </help> |
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356 <expand macro="citations" /> |
0 | 357 </tool> |
358 |