Mercurial > repos > iuc > snpeff
annotate snpEff.xml @ 7:7adfd0589f49 draft
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
author | iuc |
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date | Tue, 18 Apr 2017 09:33:56 -0400 |
parents | 2950d5afa3fe |
children | ce135864629c |
rev | line source |
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1 | 1 <tool id="snpEff" name="SnpEff" version="@WRAPPER_VERSION@.0"> |
0 | 2 <description>Variant effect and annotation</description> |
3 <macros> | |
4 <import>snpEff_macros.xml</import> | |
5 </macros> | |
2
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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changeset
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6 <expand macro="requirements" /> |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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7 <expand macro="stdio" /> |
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b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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8 <expand macro="version_command" /> |
7
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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9 <command><![CDATA[ |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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10 snpEff -Xmx8g eff |
1 | 11 -i $inputFormat -o ${outputConditional.outputFormat} -upDownStreamLen $udLength |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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12 #if $spliceSiteSize and str($spliceSiteSize) != '': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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13 -spliceSiteSize "$spliceSiteSize" |
0 | 14 #end if |
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b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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15 #if $spliceRegion.setSpliceRegions == 'yes': |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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16 #if str($spliceRegion.spliceRegionExonSize) |
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b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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17 -spliceRegionExonSize $spliceRegion.spliceRegionExonSize |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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18 #end if |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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19 #if str($spliceRegion.spliceRegionIntronMin) |
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b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
parents:
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20 -spliceRegionIntronMin $spliceRegion.spliceRegionIntronMin |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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21 #end if |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
parents:
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diff
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22 #if str($spliceRegion.spliceRegionIntronMax) |
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b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
parents:
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23 -spliceRegionIntronMax $spliceRegion.spliceRegionIntronMax |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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24 #end if |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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25 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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26 #if $annotations and str($annotations) != '': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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27 #echo " " |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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28 #echo ' '.join(str($annotations).split(',')) |
0 | 29 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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30 #if $filterOut and str($filterOut) != '': |
0 | 31 #echo " " |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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32 #echo ' '.join(str($filterOut).split(',')) |
0 | 33 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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34 #if $filter.specificEffects == 'yes' and $filter.effects: |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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35 #for $eff in str($filter.effects).split(','): |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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36 -no $eff |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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37 #end for |
0 | 38 #end if |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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diff
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39 #if $transcripts |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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diff
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40 -onlyTr '$transcripts' |
0 | 41 #end if |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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42 #if $intervals ### fix this for multiple dataset input |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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43 -interval '$intervals' |
0 | 44 #end if |
45 #if $statsFile: | |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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46 -stats '$statsFile' |
0 | 47 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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48 #if str($offset) != 'default': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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49 ${offset} |
0 | 50 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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51 #if str($chr).strip() != '': |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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52 -chr '$chr' |
0 | 53 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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54 $noLog |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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55 ## Regulation names can include parentheses: H3K4me3-MSC_(VB)_enriched_sites |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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56 ## Enclose them in in single and double quotes, as the conda snpEff bash script will remove outer quotes |
0 | 57 #if $snpDb.genomeSrc == 'cached': |
58 -dataDir ${snpDb.genomeVersion.fields.path} | |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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59 #if $snpDb.reg_section.regulation and str($snpDb.reg_section.regulation) != '': |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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60 #set $regs = [x for x in str($snpDb.reg_section.regulation).split(',')] |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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61 #for reg in $regs: |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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62 -reg '"${reg}"' |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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63 #end for |
0 | 64 #end if |
65 $snpDb.genomeVersion | |
66 #elif $snpDb.genomeSrc == 'history': | |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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67 -dataDir '${snpDb.snpeff_db.extra_files_path}' |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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68 #if $snpDb.reg_section.regulation and str($snpDb.reg_section.regulation) != '': |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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69 #set $regs = [x for x in str($snpDb.reg_section.regulation).split(',')] |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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70 #for reg in $regs: |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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71 -reg '"${reg}"' |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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72 #end for |
0 | 73 #end if |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
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74 '${snpDb.snpeff_db.metadata.genome_version}' |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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75 #else |
0 | 76 -download |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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77 '$snpDb.genome_version' |
0 | 78 #end if |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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79 '$input' > '$snpeff_output' |
1 | 80 #if $statsFile: |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
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81 && |
1 | 82 #import os |
83 #set $genes_file = str($statsFile) + '.genes.txt' | |
84 #set $genes_file_name = os.path.split($genes_file)[-1] | |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
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85 mkdir '$statsFile.files_path' && |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
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86 mv '$genes_file' '#echo os.path.join($statsFile.files_path, $genes_file_name)#' |
1 | 87 #end if |
88 #if $outputConditional.outputFormat == 'gatk' and $outputConditional.gatk_v1 | |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
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89 && |
1 | 90 ## 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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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
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91 sed -i.bak -e 's/^\#\#SnpEffVersion="\(\S*\s\)/\#\#SnpEffVersion="2.0.5 - real is \1/' '$snpeff_output' |
1 | 92 #end if |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
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93 ]]></command> |
0 | 94 <inputs> |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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95 <param name="input" type="data" format="vcf,tabular,pileup,bed" label="Sequence changes (SNPs, MNPs, InDels)"/> |
0 | 96 |
97 <param name="inputFormat" type="select" label="Input format"> | |
98 <option value="vcf" selected="true">VCF</option> | |
99 <option value="bed">BED (Deprecated)</option> | |
100 </param> | |
101 | |
1 | 102 <conditional name="outputConditional"> |
103 <param name="outputFormat" type="select" label="Output format"> | |
104 <option value="vcf" selected="true">VCF (only if input is VCF)</option> | |
105 <option value="gatk">GATK-compatible VCF (only if input is VCF)</option> | |
106 <option value="bed">BED</option> | |
107 <option value="bedAnn">BED annotations</option> | |
108 </param> | |
109 <when value="vcf" /> | |
110 <when value="gatk"> | |
111 <param name="gatk_v1" type="boolean" checked="true" label="Compatible with GATK 1.x" /> | |
112 </when> | |
113 <when value="bed" /> | |
114 <when value="bedAnn" /> | |
115 </conditional> | |
0 | 116 |
117 <conditional name="snpDb"> | |
118 <param name="genomeSrc" type="select" label="Genome source"> | |
119 <option value="cached">Locally installed reference genome</option> | |
120 <option value="history">Reference genome from your history</option> | |
121 <option value="named">Named on demand</option> | |
122 </param> | |
123 <when value="cached"> | |
124 <param name="genomeVersion" type="select" label="Genome"> | |
125 <!--GENOME DESCRIPTION--> | |
1 | 126 <options from_data_table="snpeffv_genomedb"> |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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127 <filter type="static_value" name="snpeff_version" value="@SNPEFF_VERSION@" column="1"/> |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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128 <filter type="unique_value" column="2" /> |
0 | 129 </options> |
130 </param> | |
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7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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131 <section name="reg_section" expanded="false" title="Regulation options"> |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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132 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation" help="These are available for only a few genomes"> |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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133 <options from_data_table="snpeffv_regulationdb"> |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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134 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> |
7adfd0589f49
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 5c6d595ecbf2e4e39c25662a165c9e475e01ecd1
iuc
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135 <filter type="unique_value" column="3" /> |
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136 </options> |
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137 </param> |
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138 </section> |
0 | 139 </when> |
140 <when value="history"> | |
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141 <param name="snpeff_db" type="data" format="snpeffdb" label="@SNPEFF_VERSION@ Genome Data"> |
1 | 142 <options options_filter_attribute="metadata.snpeff_version" > |
143 <filter type="add_value" value="@SNPEFF_VERSION@" /> | |
144 </options> | |
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145 <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> |
1 | 146 </param> |
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147 <section name="reg_section" expanded="false" title="Regulation options"> |
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148 <!-- From metadata --> |
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149 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation" help="These are available for only a few genomes"> |
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150 <options> |
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151 <filter type="data_meta" ref="snpeff_db" key="regulation" /> |
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152 </options> |
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153 </param> |
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154 </section> |
0 | 155 </when> |
156 <when value="named"> | |
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157 <param name="genome_version" type="text" value="" label="Snpff Genome Version Name (e.g. GRCh38.76)"> |
1 | 158 <help>@SNPEFF_DATABASE_URL@</help> |
159 <validator type="regex" message="A genome version name is required">\S+</validator> | |
160 </param> | |
0 | 161 </when> |
162 </conditional> | |
163 | |
164 <param name="udLength" type="select" label="Upstream / Downstream length"> | |
165 <option value="0">No upstream / downstream intervals (0 bases)</option> | |
166 <option value="200">200 bases</option> | |
167 <option value="500">500 bases</option> | |
168 <option value="1000">1000 bases</option> | |
169 <option value="2000">2000 bases</option> | |
170 <option value="5000" selected="true">5000 bases</option> | |
171 <option value="10000">10000 bases</option> | |
172 <option value="20000">20000 bases</option> | |
173 </param> | |
174 | |
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175 <param name="spliceSiteSize" type="select" optional="true" label="Set size for splice sites (donor and acceptor) in bases"> |
0 | 176 <option value="1">1 base</option> |
1 | 177 <option value="2" selected="true">2 bases</option> |
0 | 178 <option value="3">3 bases</option> |
179 <option value="4">4 bases</option> | |
180 <option value="5">5 bases</option> | |
181 <option value="6">6 bases</option> | |
182 <option value="7">7 bases</option> | |
183 <option value="8">8 bases</option> | |
184 <option value="9">9 bases</option> | |
185 </param> | |
186 | |
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187 <conditional name="spliceRegion"> |
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188 <param name="setSpliceRegions" type="select" label="spliceRegion Settings"> |
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189 <option value="no">Use Defaults</option> |
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190 <option value="yes">Set Splice Region Parameters</option> |
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191 </param> |
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192 <when value="no"/> |
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193 <when value="yes"> |
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194 <param name="spliceRegionExonSize" type="integer" value="" min="1" max="10" optional="true" label="Set size for splice site region within exons. Default: 3 bases"/> |
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195 <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"/> |
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196 <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"/> |
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197 </when> |
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198 </conditional> |
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199 |
0 | 200 <param name="annotations" type="select" display="checkboxes" multiple="true" label="Annotation options"> |
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201 <option value="-formatEff">Use 'EFF' field compatible with older versions (instead of 'ANN')</option> |
1 | 202 <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> |
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203 <option value="-sequenceOntology">Override classic and use Sequence Ontolgy terms for effects (missense_variant vs NON_SYNONYMOUS_CODING)</option> |
1 | 204 <option value="-hgvs">Override classic and use HGVS annotations for amino acid annotations (p.Gly180Arg/c.538G>C vs G180R)</option> |
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205 <option value="-hgvsOld">Old notation style notation: E.g. 'c.G123T' instead of 'c.123G>T' and 'X' instead of '*'</option> |
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206 <option value="-hgvs1LetterAa">Use one letter Amino acid codes in HGVS notation. E.g. p.R47G instead of p.Arg47Gly</option> |
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207 <option value="-hgvsTrId">Use transcript ID in HGVS notation. E.g. ENST00000252100:c.914C>G instead of c.914C>G</option> |
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208 <option value="-noShiftHgvs">Do not shift variants according to HGVS notation (most 3prime end)</option> |
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209 <option value="-noHgvs">Do not add HGVS annotations</option> |
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210 <option value="-canon">Only use canonical transcripts</option> |
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211 <option value="-onlyProtein">Only use protein coding transcripts</option> |
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212 <option value="-geneId">Use gene ID instead of gene name (VCF output)</option> |
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213 <option value="-noExpandIUB">Disable IUB code expansion in input variants</option> |
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214 <option value="-oicr">Add OICR tag in VCF file</option> |
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215 <option value="-lof">Add loss of function (LOF) and nonsense mediated decay (NMD) tags</option> |
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216 <option value="-noLof">Do not add LOF and NMD annotations</option> |
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217 <option value="-noMotif">Disable motif annotations</option> |
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218 <option value="-noNextProt">Disable NextProt annotations</option> |
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219 <option value="-noInteraction">Disable interaction annotations</option> |
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220 <option value="-cancer">Perform 'cancer' comparisons (somatic vs. germline)</option> |
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221 <!-- onlyReg option results in ifrequent exceptions with version 4.3k |
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222 <option value="-onlyReg">Only use regulation tracks</option> |
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223 --> |
0 | 224 </param> |
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225 <!-- -cancerSamples <file> : Two column TXT file defining 'oringinal \t derived' samples. --> |
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226 <param name="intervals" type="data" format="bed" optional="true" label="Use custom interval file for annotation"/> |
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227 <param name="transcripts" type="data" format="tabular" optional="true" label="Only use the transcripts in this file" help="Format is one transcript ID per line"/> |
0 | 228 <param name="filterOut" type="select" display="checkboxes" multiple="true" label="Filter output"> |
229 <option value="-no-downstream">Do not show DOWNSTREAM changes</option> | |
230 <option value="-no-intergenic">Do not show INTERGENIC changes</option> | |
231 <option value="-no-intron">Do not show INTRON changes</option> | |
232 <option value="-no-upstream">Do not show UPSTREAM changes</option> | |
233 <option value="-no-utr">Do not show 5_PRIME_UTR or 3_PRIME_UTR changes</option> | |
234 </param> | |
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235 <conditional name="filter"> |
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236 <param name="specificEffects" type="select" label="Filter out specific Effects"> |
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237 <option value="no">No</option> |
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238 <option value="yes">Yes</option> |
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239 </param> |
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240 <when value="no"/> |
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241 <when value="yes"> |
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242 <param name="effects" type="select" display="checkboxes" multiple="true" label="Filter output: do not report these Effects"> |
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243 <option value="CDS">CDS (coding_sequence_variant) The variant hits a CDS. MODIFIER</option> |
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244 <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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245 <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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246 <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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247 <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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248 <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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249 <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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250 <option value="DOWNSTREAM">DOWNSTREAM (downstream_gene_variant) Downstream of a gene (default length: 5K bases) MODIFIER</option> |
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251 <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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252 <option value="EXON_DELETED">EXON_DELETED (exon_loss_variant) A deletion removes the whole exon. HIGH</option> |
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253 <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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254 <option value="GENE">GENE (gene_variant) The variant hits a gene. MODIFIER</option> |
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255 <option value="INTERGENIC">INTERGENIC (intergenic_region) The variant is in an intergenic region MODIFIER</option> |
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256 <option value="INTERGENIC_CONSERVED">INTERGENIC_CONSERVED (conserved_intergenic_variant) The variant is in a highly conserved intergenic region MODIFIER</option> |
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257 <option value="INTRAGENIC">INTRAGENIC (intragenic_variant) The variant hits a gene, but no transcripts within the gene MODIFIER</option> |
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258 <option value="INTRON">INTRON (intron_variant) Variant hits and intron. Technically, hits no exon in the transcript. MODIFIER</option> |
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259 <option value="INTRON_CONSERVED">INTRON_CONSERVED (conserved_intron_variant) The variant is in a highly conserved intronic region MODIFIER</option> |
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260 <option value="MICRO_RNA">MICRO_RNA (miRNA) Variant affects an miRNA MODIFIER</option> |
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261 <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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262 <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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263 <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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264 <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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265 <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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266 <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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267 <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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268 <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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269 <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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270 <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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271 <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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272 <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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273 <option value="STOP_GAINED">STOP_GAINED (stop_gained) Variant causes a STOP codon e.g.: Cag/Tag, Q/* HIGH</option> |
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274 <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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275 <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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276 <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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277 <option value="TRANSCRIPT">TRANSCRIPT (transcript_variant) The variant hits a transcript. MODIFIER</option> |
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278 <option value="REGULATION">REGULATION (regulatory_region_variant) The variant hits a known regulatory feature (non-coding). MODIFIER</option> |
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279 <option value="UPSTREAM">UPSTREAM (upstream_gene_variant) Upstream of a gene (default length: 5K bases) MODIFIER</option> |
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280 <option value="UTR_3_PRIME">UTR_3_PRIME (3_prime_UTR_variant) Variant hits 3'UTR region MODIFIER</option> |
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281 <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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282 <option value="UTR_5_PRIME">UTR_5_PRIME (5_prime_UTR_variant) Variant hits 5'UTR region MODIFIER</option> |
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283 <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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284 <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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285 </param> |
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286 </when> |
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287 </conditional> |
0 | 288 |
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289 <param name="offset" type="select" display="radio" label="Chromosomal position"> |
1 | 290 <option value="default" selected="true">Use default (based on input type)</option> |
0 | 291 <option value="-0">Force zero-based positions (both input and output)</option> |
292 <option value="-1">Force one-based positions (both input and output)</option> | |
293 </param> | |
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294 <param name="chr" type="text" label="Text to prepend to chromosome name"> |
0 | 295 <help> |
296 By default SnpEff simplifies all chromosome names. For instance 'chr1' is just '1'. | |
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297 You can prepend any string you want to the chromosome name |
0 | 298 </help> |
299 <validator type="regex" message="No whitespace allowed">^\S*$</validator> | |
300 </param> | |
301 <param name="generate_stats" type="boolean" truevalue="" falsevalue="-noStats" checked="true" label="Produce Summary Stats"/> | |
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302 <param name="noLog" type="boolean" truevalue="-noLog" falsevalue="" checked="true" label="Suppress reporting usage statistics to server"/> |
0 | 303 </inputs> |
304 <outputs> | |
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305 <data name="snpeff_output" format="vcf"> |
0 | 306 <change_format> |
1 | 307 <when input="outputConditional.outputFormat" value="bed" format="bed" /> |
308 <when input="outputConditional.outputFormat" value="bedAnn" format="bed" /> | |
0 | 309 </change_format> |
310 </data> | |
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311 <data name="statsFile" format="html" label="${tool.name} on ${on_string} - stats"> |
0 | 312 <filter>generate_stats == True</filter> |
313 </data> | |
314 </outputs> | |
315 <tests> | |
316 <test> | |
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317 <param name="input" ftype="vcf" value="input.vcf"/> |
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318 <param name="inputFormat" value="vcf"/> |
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319 <param name="outputFormat" value="vcf"/> |
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320 <param name="genomeSrc" value="named"/> |
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321 <param name="genome_version" value="ebola_zaire"/> |
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322 <param name="udLength" value="0"/> |
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323 <param name="generate_stats" value="False"/> |
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324 <output name="snpeff_output"> |
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325 <assert_contents> |
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326 <has_text_matching expression="KJ660346\t572\t.*missense_variant" /> |
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327 <has_text_matching expression="KJ660346\t1024\t.*synonymous_variant" /> |
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328 </assert_contents> |
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329 </output> |
0 | 330 </test> |
331 </tests> | |
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332 <help><![CDATA[ |
0 | 333 This tool calculate the effect of variants (SNPs/MNPs/Insertions) and deletions. |
334 | |
335 @EXTERNAL_DOCUMENTATION@ | |
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336 ]]> |
0 | 337 </help> |
1 | 338 <expand macro="citations" /> |
0 | 339 </tool> |