Mercurial > repos > iuc > snpeff
annotate snpEff.xml @ 6:9ec1cb6f760d draft
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
| author | iuc |
|---|---|
| date | Tue, 13 Oct 2015 17:30:57 -0400 |
| parents | 92b80578fa22 |
| children | aaa749ea91a2 |
| rev | line source |
|---|---|
|
6
9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
5
diff
changeset
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1 <tool id="snpEff" name="SnpEff" version="@WRAPPER_VERSION@.1"> |
| 0 | 2 <description>Variant effect and annotation</description> |
| 3 <macros> | |
| 4 <import>snpEff_macros.xml</import> | |
| 5 </macros> | |
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92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
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changeset
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6 <expand macro="requirements" /> |
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92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
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changeset
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7 <expand macro="stdio" /> |
| 0 | 8 <command> |
| 2 | 9 <![CDATA[ |
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5
92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
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changeset
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10 java -Xmx6G -jar \$SNPEFF_JAR_PATH/snpEff.jar eff |
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92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
2
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changeset
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11 -c \$SNPEFF_JAR_PATH/snpEff.config |
| 0 | 12 -i $inputFormat -o ${outputConditional.outputFormat} -upDownStreamLen $udLength |
| 13 #if $spliceSiteSize and $spliceSiteSize.__str__ != '': | |
| 14 -spliceSiteSize $spliceSiteSize | |
| 15 #end if | |
| 16 #if $filterHomHet and $filterHomHet.__str__ != 'no_filter': | |
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5
92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
2
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17 $filterHomHet |
| 0 | 18 #end if |
| 19 #if $annotations and $annotations.__str__ != '': | |
| 20 #echo " " | |
| 21 #echo ' '.join($annotations.__str__.split(',')) | |
| 22 #end if | |
| 23 #if $filterOut and $filterOut.__str__ != '': | |
| 24 #echo " " | |
| 25 #echo ' '.join($filterOut.__str__.split(',')) | |
| 26 #end if | |
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6
9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
5
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changeset
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27 #if $filter.specificEffects == 'yes' and $filter.effects: |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
5
diff
changeset
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28 #for $eff in str($filter.effects).split(','): |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
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changeset
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29 -no $eff |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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diff
changeset
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30 #end for |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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changeset
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31 #end if |
| 0 | 32 #if str( $transcripts ) != 'None': |
| 33 -onlyTr $transcripts | |
| 34 #end if | |
| 35 #if str( $intervals ) != 'None': ### fix this for multiple dataset input | |
| 36 -interval $intervals | |
| 37 #end if | |
| 38 #if $statsFile: | |
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92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
2
diff
changeset
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39 -stats $statsFile |
| 0 | 40 #end if |
| 2 | 41 #if $offset.__str__ != 'default': |
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5
92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
2
diff
changeset
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42 ${offset} |
| 0 | 43 #end if |
| 44 #if $chr.__str__.strip() != '': | |
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5
92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
2
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changeset
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45 -chr "$chr" |
| 0 | 46 #end if |
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5
92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
2
diff
changeset
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47 $noLog |
| 0 | 48 #if $snpDb.genomeSrc == 'cached': |
| 49 -dataDir ${snpDb.genomeVersion.fields.path} | |
| 50 #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': | |
| 51 #echo " " | |
| 52 #echo ' '.join($snpDb.extra_annotations.__str__.split(',')) | |
| 53 #end if | |
| 54 #if $snpDb.regulation and $snpDb.regulation.__str__ != '': | |
| 55 -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# | |
| 56 #end if | |
| 57 $snpDb.genomeVersion | |
| 58 #elif $snpDb.genomeSrc == 'history': | |
| 2 | 59 -dataDir ${snpDb.snpeff_db.extra_files_path} |
| 0 | 60 #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': |
| 61 #set xannotations = [' '] + $snpDb.extra_annotations.__str__.split(',') | |
| 62 #echo " " | |
| 63 #echo ' -'.join($xannotations) | |
| 64 #end if | |
| 65 #if $snpDb.regulation and $snpDb.regulation.__str__ != '': | |
| 66 -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# | |
| 67 #end if | |
| 68 ${snpDb.snpeff_db.metadata.genome_version} | |
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5
92b80578fa22
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 344140b8df53b8b7024618bb04594607a045c03a
iuc
parents:
2
diff
changeset
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69 #else |
| 0 | 70 -download |
| 71 $snpDb.genome_version | |
| 72 #end if | |
| 73 $input > $snpeff_output ; | |
| 74 #if $statsFile: | |
| 75 #import os | |
| 76 #set $genes_file = str($statsFile) + '.genes.txt' | |
| 77 #set $genes_file_name = os.path.split($genes_file)[-1] | |
| 78 mkdir $statsFile.files_path; | |
| 79 mv $genes_file #echo os.path.join($statsFile.files_path, $genes_file_name)#; | |
| 80 #end if | |
| 81 #if $outputConditional.outputFormat == 'gatk' and $outputConditional.gatk_v1 | |
| 82 ## 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]" | |
| 2 | 83 sed -i -e 's/^\#\#SnpEffVersion="\(\S*\s\)/\#\#SnpEffVersion="2.0.5 - real is \1/' $snpeff_output |
| 0 | 84 #end if |
| 2 | 85 ]]> |
| 0 | 86 </command> |
| 87 <inputs> | |
| 88 <param format="vcf,tabular,pileup,bed" name="input" type="data" label="Sequence changes (SNPs, MNPs, InDels)"/> | |
| 89 | |
| 90 <param name="inputFormat" type="select" label="Input format"> | |
| 91 <option value="vcf" selected="true">VCF</option> | |
| 92 <option value="txt">Tabular (Deprecated)</option> | |
| 93 <option value="pileup">Pileup (Deprecated)</option> | |
| 94 <option value="bed">BED (Deprecated)</option> | |
| 95 </param> | |
| 96 | |
| 97 <conditional name="outputConditional"> | |
| 98 <param name="outputFormat" type="select" label="Output format"> | |
| 99 <option value="vcf" selected="true">VCF (only if input is VCF)</option> | |
| 100 <option value="gatk">GATK-compatible VCF (only if input is VCF)</option> | |
| 101 <option value="txt">Tabular</option> | |
| 102 <option value="bed">BED</option> | |
| 103 <option value="bedAnn">BED annotations</option> | |
| 104 </param> | |
| 105 <when value="vcf" /> | |
| 106 <when value="gatk"> | |
| 107 <param name="gatk_v1" type="boolean" checked="true" label="Compatible with GATK 1.x" /> | |
| 108 </when> | |
| 109 <when value="txt" /> | |
| 110 <when value="bed" /> | |
| 111 <when value="bedAnn" /> | |
| 112 </conditional> | |
| 113 | |
| 114 <conditional name="snpDb"> | |
| 115 <param name="genomeSrc" type="select" label="Genome source"> | |
| 116 <option value="cached">Locally installed reference genome</option> | |
| 117 <option value="history">Reference genome from your history</option> | |
| 118 <option value="named">Named on demand</option> | |
| 119 </param> | |
| 120 <when value="cached"> | |
| 121 <param name="genomeVersion" type="select" label="Genome"> | |
| 122 <!--GENOME DESCRIPTION--> | |
| 2 | 123 <options from_data_table="snpeffv_genomedb"> |
| 124 <filter type="static_value" name="snpeff_version" value="@SNPEFF_VERSION@" column="1"/> | |
| 125 <filter type="unique_value" column="2" /> | |
| 0 | 126 </options> |
| 127 </param> | |
| 128 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional annotations"> | |
| 129 <help>These are available for only a few genomes</help> | |
| 2 | 130 <options from_data_table="snpeffv_annotations"> |
| 131 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> | |
| 132 <filter type="unique_value" column="3" /> | |
| 0 | 133 </options> |
| 134 </param> | |
| 135 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation"> | |
| 136 <help>These are available for only a few genomes</help> | |
| 2 | 137 <options from_data_table="snpeffv_regulationdb"> |
| 138 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> | |
| 139 <filter type="unique_value" column="3" /> | |
| 0 | 140 </options> |
| 141 </param> | |
| 142 </when> | |
| 143 <when value="history"> | |
| 2 | 144 <param format="snpeffdb" name="snpeff_db" type="data" label="@SNPEFF_VERSION@ Genome Data"> |
| 145 <options options_filter_attribute="metadata.snpeff_version" > | |
| 146 <filter type="add_value" value="@SNPEFF_VERSION@" /> | |
| 147 </options> | |
| 148 <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> | |
| 149 </param> | |
| 0 | 150 <!-- From metadata --> |
| 151 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional annotations"> | |
| 152 <help>These are available for only a few genomes</help> | |
| 153 <options> | |
| 154 <filter type="data_meta" ref="snpeff_db" key="annotation" /> | |
| 155 </options> | |
| 156 </param> | |
| 157 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation"> | |
| 158 <help>These are available for only a few genomes</help> | |
| 159 <options> | |
| 160 <filter type="data_meta" ref="snpeff_db" key="regulation" /> | |
| 161 </options> | |
| 162 </param> | |
| 163 </when> | |
| 164 <when value="named"> | |
|
6
9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
5
diff
changeset
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165 <param name="genome_version" type="text" value="" label="Snpff Genome Version Name (e.g. GRCh38.76)"> |
| 2 | 166 <help>@SNPEFF_DATABASE_URL@</help> |
| 167 <validator type="regex" message="A genome version name is required">\S+</validator> | |
| 168 </param> | |
| 0 | 169 </when> |
| 170 </conditional> | |
| 171 | |
| 172 <param name="udLength" type="select" label="Upstream / Downstream length"> | |
| 173 <option value="0">No upstream / downstream intervals (0 bases)</option> | |
| 174 <option value="200">200 bases</option> | |
| 175 <option value="500">500 bases</option> | |
| 176 <option value="1000">1000 bases</option> | |
| 177 <option value="2000">2000 bases</option> | |
| 178 <option value="5000" selected="true">5000 bases</option> | |
| 179 <option value="10000">10000 bases</option> | |
| 180 <option value="20000">20000 bases</option> | |
| 181 </param> | |
| 182 | |
| 183 <param name="spliceSiteSize" type="select" optional="true" label="Set size for splice sites (donor and acceptor) in bases" help="Default: 2"> | |
| 184 <option value="1">1 base</option> | |
| 185 <option value="2" selected="true">2 bases</option> | |
| 186 <option value="3">3 bases</option> | |
| 187 <option value="4">4 bases</option> | |
| 188 <option value="5">5 bases</option> | |
| 189 <option value="6">6 bases</option> | |
| 190 <option value="7">7 bases</option> | |
| 191 <option value="8">8 bases</option> | |
| 192 <option value="9">9 bases</option> | |
| 193 </param> | |
| 194 | |
| 195 <param name="filterHomHet" type="select" display="radio" label="Filter homozygous / heterozygous changes"> | |
| 196 <option value="no_filter" selected="true">No filter (analyze everything)</option> | |
| 197 <option value="-hom">Analyze homozygous sequence changes only</option> | |
| 198 <option value="-het">Analyze heterozygous sequence changes only</option> | |
| 199 </param> | |
| 200 | |
| 201 <param name="annotations" type="select" display="checkboxes" multiple="true" label="Annotation options"> | |
| 202 <option value="-cancer">Perform 'cancer' comparisons (somatic vs. germline)</option> | |
| 203 <option value="-canon">Only use canonical transcripts</option> | |
| 204 <option value="-geneId">Use gene ID instead of gene name (VCF output)</option> | |
| 205 <option value="-lof">Add loss of function (LOF) and nonsense mediated decay (NMD) tags</option> | |
| 206 <option value="-oicr">Add OICR tag in VCF file</option> | |
| 207 <option value="-onlyReg">Only use regulation tracks</option> | |
| 2 | 208 <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> |
| 209 <option value="-hgvs">Override classic and use HGVS annotations for amino acid annotations (p.Gly180Arg/c.538G>C vs G180R)</option> | |
| 210 <option value="-sequenceOntology">Override classic and use Sequence Ontolgy terms for effects (missense_variant vs NON_SYNONYMOUS_CODING)</option> | |
| 0 | 211 </param> |
| 212 <param name="intervals" format="bed" type="data" optional="true" label="Use custom interval file for annotation"/> | |
| 213 <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."/> | |
| 214 <param name="filterOut" type="select" display="checkboxes" multiple="true" label="Filter output"> | |
| 215 <option value="-no-downstream">Do not show DOWNSTREAM changes</option> | |
| 216 <option value="-no-intergenic">Do not show INTERGENIC changes</option> | |
| 217 <option value="-no-intron">Do not show INTRON changes</option> | |
| 218 <option value="-no-upstream">Do not show UPSTREAM changes</option> | |
| 219 <option value="-no-utr">Do not show 5_PRIME_UTR or 3_PRIME_UTR changes</option> | |
| 220 </param> | |
|
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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changeset
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221 <conditional name="filter"> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
5
diff
changeset
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222 <param name="specificEffects" type="select" label="Filter out specific Effects"> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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223 <option value="no">No</option> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
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parents:
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224 <option value="yes">Yes</option> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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225 </param> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
5
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changeset
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226 <when value="no"/> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
5
diff
changeset
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227 <when value="yes"> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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changeset
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228 <param name="effects" type="select" display="checkboxes" multiple="true" label="Filter output: do not report these Effects"> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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229 <option value="CDS">CDS (coding_sequence_variant) The variant hits a CDS. MODIFIER</option> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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230 <option value="CHROMOSOME_LARGE_DELETION">CHROMOSOME_LARGE_DELETION (chromosome) A large parte (over 1%) of the chromosome was deleted. HIGH</option> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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231 <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> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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232 <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> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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233 <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> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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234 <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> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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235 <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> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
parents:
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diff
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236 <option value="DOWNSTREAM">DOWNSTREAM (downstream_gene_variant) Downstream of a gene (default length: 5K bases) MODIFIER</option> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
iuc
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237 <option value="EXON">EXON (exon_variant) The variant hits an exon (from a non-coding transcript) or a retained intron. MODIFIER</option> |
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9ec1cb6f760d
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit e5a5ad091c621348dc6ce2df861475ebc54a380e
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parents:
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238 <option value="EXON_DELETED">EXON_DELETED (exon_loss_variant) A deletion removes the whole exon. HIGH</option> |
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239 <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> |
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240 <option value="GENE">GENE (gene_variant) The variant hits a gene. MODIFIER</option> |
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241 <option value="INTERGENIC">INTERGENIC (intergenic_region) The variant is in an intergenic region MODIFIER</option> |
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242 <option value="INTERGENIC_CONSERVED">INTERGENIC_CONSERVED (conserved_intergenic_variant) The variant is in a highly conserved intergenic region MODIFIER</option> |
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243 <option value="INTRAGENIC">INTRAGENIC (intragenic_variant) The variant hits a gene, but no transcripts within the gene MODIFIER</option> |
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244 <option value="INTRON">INTRON (intron_variant) Variant hits and intron. Technically, hits no exon in the transcript. MODIFIER</option> |
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245 <option value="INTRON_CONSERVED">INTRON_CONSERVED (conserved_intron_variant) The variant is in a highly conserved intronic region MODIFIER</option> |
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246 <option value="MICRO_RNA">MICRO_RNA (miRNA) Variant affects an miRNA MODIFIER</option> |
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247 <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> |
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248 <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> |
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249 <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> |
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250 <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> |
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251 <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> |
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252 <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> |
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253 <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> |
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254 <option value="SPLICE_SITE_BRANCH">SPLICE_SITE_BRANCH (splice_region_variant) A varaint affective putative (Lariat) branch point, located in the intron. LOW</option> |
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255 <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> |
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256 <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> |
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257 <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> |
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258 <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> |
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259 <option value="STOP_GAINED">STOP_GAINED (stop_gained) Variant causes a STOP codon e.g.: Cag/Tag, Q/* HIGH</option> |
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260 <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> |
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261 <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> |
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262 <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> |
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263 <option value="TRANSCRIPT">TRANSCRIPT (transcript_variant) The variant hits a transcript. MODIFIER</option> |
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264 <option value="REGULATION">REGULATION (regulatory_region_variant) The variant hits a known regulatory feature (non-coding). MODIFIER</option> |
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265 <option value="UPSTREAM">UPSTREAM (upstream_gene_variant) Upstream of a gene (default length: 5K bases) MODIFIER</option> |
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266 <option value="UTR_3_PRIME">UTR_3_PRIME (3_prime_UTR_variant) Variant hits 3'UTR region MODIFIER</option> |
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267 <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> |
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268 <option value="UTR_5_PRIME">UTR_5_PRIME (5_prime_UTR_variant) Variant hits 5'UTR region MODIFIER</option> |
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269 <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> |
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270 <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> |
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271 |
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272 </param> |
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273 </when> |
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274 </conditional> |
| 0 | 275 |
| 276 <param name="offset" type="select" display="radio" optional="true" label="Chromosomal position"> | |
| 2 | 277 <option value="default" selected="true">Use default (based on input type)</option> |
| 0 | 278 <option value="-0">Force zero-based positions (both input and output)</option> |
| 279 <option value="-1">Force one-based positions (both input and output)</option> | |
| 280 </param> | |
| 281 <param name="chr" type="text" optionl="true" label="Text to prepend to chromosome name"> | |
| 282 <help> | |
| 283 By default SnpEff simplifies all chromosome names. For instance 'chr1' is just '1'. | |
| 284 You can prepend any string you want to the chromosome name. | |
| 285 </help> | |
| 286 <validator type="regex" message="No whitespace allowed">^\S*$</validator> | |
| 287 </param> | |
| 288 <param name="generate_stats" type="boolean" truevalue="" falsevalue="-noStats" checked="true" label="Produce Summary Stats"/> | |
| 289 <param name="noLog" type="boolean" truevalue="-noLog" falsevalue="" checked="true" label="Do not report usage statistics to server"/> | |
| 290 </inputs> | |
| 291 <outputs> | |
| 292 <data format="vcf" name="snpeff_output" > | |
| 293 <change_format> | |
| 294 <when input="outputConditional.outputFormat" value="txt" format="tabular" /> | |
| 295 <when input="outputConditional.outputFormat" value="bed" format="bed" /> | |
| 296 <when input="outputConditional.outputFormat" value="bedAnn" format="bed" /> | |
| 297 </change_format> | |
| 298 </data> | |
| 299 <data format="html" name="statsFile" label="${tool.name} on ${on_string} - stats"> | |
| 300 <filter>generate_stats == True</filter> | |
| 301 </data> | |
| 302 </outputs> | |
| 303 <tests> | |
| 304 <!-- Check that an effect was added in out VCF --> | |
| 305 <!-- Check for a HTML header indicating that this was successful --> | |
| 306 <!-- | |
| 307 <output name="statsFile"> | |
| 308 <assert_contents> | |
| 309 <has_text text="SnpEff: Variant analysis" /> | |
| 310 </assert_contents> | |
| 311 </output> | |
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312 --> |
| 0 | 313 <!-- Setting filterOut throws exception in twilltestcase.py |
| 314 <test> | |
| 315 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> | |
| 316 <param name="inputFormat" value="vcf"/> | |
| 317 <param name="outputFormat" value="vcf"/> | |
| 318 <param name="genomeSrc" value="named"/> | |
| 319 <param name="genome_version" value="testCase"/> | |
| 320 <param name="udLength" value="0"/> | |
| 321 <param name="filterHomHet" value="no_filter"/> | |
| 322 <param name="generate_stats" value="False"/> | |
| 323 <param name="filterOut" value="+-no-upstream"/> | |
| 324 <output name="snpeff_output"> | |
| 325 <assert_contents> | |
| 326 <has_text text="EFF=" /> | |
| 327 </assert_contents> | |
| 328 </output> | |
| 329 </test> | |
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330 --> |
| 0 | 331 |
| 332 <test> | |
| 333 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> | |
| 334 <param name="inputFormat" value="vcf"/> | |
| 335 <param name="outputFormat" value="vcf"/> | |
| 336 <param name="genomeSrc" value="named"/> | |
| 337 <param name="genome_version" value="testCase"/> | |
| 338 <param name="udLength" value="0"/> | |
| 339 <param name="filterHomHet" value="+-het"/> | |
| 340 <!-- | |
| 341 <param name="filterOut" value=""/> | |
| 342 --> | |
| 343 <param name="generate_stats" value="False"/> | |
| 344 <output name="snpeff_output"> | |
| 345 <assert_contents> | |
| 346 <!-- Check that NO effects were added since -het is set --> | |
| 347 <not_has_text text="EFF=NON_SYNONYMOUS_CODING" /> | |
| 348 </assert_contents> | |
| 349 </output> | |
| 350 </test> | |
| 351 | |
| 352 <test> | |
| 353 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> | |
| 354 <param name="inputFormat" value="vcf"/> | |
| 355 <param name="outputFormat" value="vcf"/> | |
| 356 <param name="genomeSrc" value="named"/> | |
| 357 <param name="genome_version" value="testCase"/> | |
| 358 <param name="udLength" value="0"/> | |
| 359 <param name="filterHomHet" value="no_filter"/> | |
| 360 <!-- | |
| 361 <param name="filterOut" value=""/> | |
| 362 --> | |
| 363 <param name="generate_stats" value="False"/> | |
| 364 <output name="snpeff_output"> | |
| 365 <assert_contents> | |
| 366 <!-- Check that deleletions were evaluated --> | |
| 367 <has_text_matching expression="Y\t59030478\t.*EFF=INTERGENIC" /> | |
| 368 <!-- Check that insertion on last line was NOT evaluated --> | |
| 369 <has_text_matching expression="Y\t59032947\t.*SF=5\tGT" /> | |
| 370 </assert_contents> | |
| 371 </output> | |
| 372 </test> | |
| 373 | |
| 374 <!-- Check that NO UPSTREAM effect was added --> | |
| 375 <!-- Setting filterOut throws exception in twilltestcase.py | |
| 376 <test> | |
| 377 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> | |
| 378 <param name="inputFormat" value="vcf"/> | |
| 379 <param name="outputFormat" value="vcf"/> | |
| 380 <param name="genomeSrc" value="named"/> | |
| 381 <param name="genome_version" value="testCase"/> | |
| 382 <param name="udLength" value="0"/> | |
| 383 <param name="filterHomHet" value="no_filter"/> | |
| 384 <param name="filterOut" value="+-no-upstream"/> | |
| 385 <param name="generate_stats" value="False"/> | |
| 386 <output name="snpeff_output"> | |
| 387 <assert_contents> | |
| 388 <not_has_text text="UPSTREAM" /> | |
| 389 </assert_contents> | |
| 390 </output> | |
| 391 </test> | |
| 392 --> | |
| 393 | |
| 394 </tests> | |
| 395 <help> | |
| 2 | 396 |
| 0 | 397 This tool calculate the effect of variants (SNPs/MNPs/Insertions) and deletions. |
| 398 | |
| 399 @EXTERNAL_DOCUMENTATION@ | |
| 400 | |
| 2 | 401 @CITATION_SECTION@ |
| 402 | |
| 0 | 403 </help> |
| 404 <expand macro="citations" /> | |
| 405 </tool> | |
| 406 |
