diff --git a/annotate.nf b/annotate.nf index eb2a420c8e..1d7f8bab8d 100644 --- a/annotate.nf +++ b/annotate.nf @@ -141,20 +141,21 @@ process RunSnpeff { output: set file("${vcf.baseName}.snpEff.ann.vcf"), file("${vcf.baseName}.snpEff.genes.txt"), file("${vcf.baseName}.snpEff.csv"), file("${vcf.baseName}.snpEff.summary.html") into snpeffReport + set variantCaller,file("${vcf.baseName}.snpEff.ann.vcf") into snpEffOutputVCFs - when: 'snpeff' in tools + when: 'snpeff' in tools || 'merge' in tools script: """ java -Xmx${task.memory.toGiga()}g \ - -jar \$SNPEFF_HOME/snpEff.jar \ - ${snpeffDb} \ - -csvStats ${vcf.baseName}.snpEff.csv \ - -nodownload \ - -cancer \ - -v \ - ${vcf} \ - > ${vcf.baseName}.snpEff.ann.vcf + -jar \$SNPEFF_HOME/snpEff.jar \ + ${snpeffDb} \ + -csvStats ${vcf.baseName}.snpEff.csv \ + -nodownload \ + -canon \ + -v \ + ${vcf} \ + > ${vcf.baseName}.snpEff.ann.vcf mv snpEff_summary.html ${vcf.baseName}.snpEff.summary.html """ @@ -165,6 +166,13 @@ if (params.verbose) snpeffReport = snpeffReport.view { File : ${it.fileName}" } +// When we are running in the 'merge' mode (first snpEff, then VEP) +// we have to exchange the channels + +if('merge' in tools) { + vcfForVep = snpEffOutputVCFs +} + process RunVEP { tag {vcf} @@ -176,7 +184,7 @@ process RunVEP { output: set file("${vcf.baseName}.vep.ann.vcf"), file("${vcf.baseName}.vep.summary.html") into vepReport - when: 'vep' in tools + when: 'vep' in tools || 'merge' in tools script: genome = params.genome == 'smallGRCh37' ? 'GRCh37' : params.genome @@ -230,7 +238,8 @@ def defineDirectoryMap() { def defineToolList() { return [ 'snpeff', - 'vep' + 'vep', + 'merge' ] } @@ -252,6 +261,7 @@ def helpMessage() { log.info " Possible values are:" log.info " snpeff (use snpEff for Annotation of Variants)" log.info " vep (use VEP for Annotation of Variants)" + log.info " merge (first snpEff, then feed its output VCFs to VEP)" log.info " --annotateTools" log.info " Option to configure which tools to annotate." log.info " Different tools to be separated by commas." diff --git a/data/tumor_genes.bed b/data/tumor_genes.bed index a54dd69b76..445f7ea463 100644 --- a/data/tumor_genes.bed +++ b/data/tumor_genes.bed @@ -4,6 +4,7 @@ chr1 3069168 3438621 PRDM16 chr1 6181269 6209389 RPL22 chr1 6785324 7769706 CAMTA1 chr1 11106535 11262507 MTOR +chr1 12644562 12667101 AADACL4 chr1 13700198 13825079 PRDM2 chr1 15847864 15940460 SPEN chr1 17018722 17054170 SDHB @@ -12,7 +13,6 @@ chr1 19074506 19210276 UBR4 chr1 23019448 23083689 KDM1A chr1 23557918 23559794 ID3 chr1 23581495 23640568 MDS2 -chr1 26693236 26782104 ARID1A chr1 26949562 26960406 KDF1 chr1 30931506 31065991 PUM1 chr1 32251239 32286165 LCK @@ -238,7 +238,6 @@ chr12 22625075 22690665 ETNK1 chr12 25204789 25250936 KRAS chr12 27523431 27695564 PPFIBP1 chr12 40196744 40369285 LRRK2 -chr12 45729665 45908040 ARID2 chr12 47972965 48004486 COL2A1 chr12 48328980 48330279 H1FNT chr12 49018975 49061895 KMT2D @@ -338,7 +337,6 @@ chr14 99169287 99271524 BCL11B chr14 101964528 102050792 DYNC1H1 chr14 102080738 102139699 HSP90AA1 chr14 103100144 103110559 EXOC3L4 -chr14 104769349 104795751 AKT1 chr14 104937244 104978357 AHNAK2 chr14 105566277 106879844 IGH chr15 22184967 22185402 IGHV4OR15-8 @@ -596,7 +594,6 @@ chr2 21001429 21044073 APOB chr2 24029340 24049575 WDCP chr2 24491914 24770702 NCOA1 chr2 25227855 25342590 DNMT3A -chr2 25733753 25878516 ASXL2 chr2 27537386 27582721 C2orf16 chr2 29192774 29921566 ALK chr2 32357028 32618899 BIRC6 @@ -672,7 +669,6 @@ chr2 241734579 241768816 D2HGDH chr20 325595 330224 SOX12 chr20 1894167 1940592 SIRPA chr20 20034368 20056046 CRNKL1 -chr20 32358344 32439319 ASXL1 chr20 37344685 37406050 SRC chr20 40685848 40689240 MAFB chr20 41028818 41124487 TOP1 @@ -729,6 +725,7 @@ chr22 40410281 40636702 MKL1 chr22 41091786 41180079 EP300 chr22 46360834 46537170 CELSR1 chr22 50674415 50733298 SHANK3 +chr3 132317373 132368327 ACPP chr3 4493348 4847840 ITPR1 chr3 8980591 9363053 SRGAP3 chr3 9731729 9748018 BRPF1 @@ -997,7 +994,6 @@ chr7 137874979 138002067 CREB3L2 chr7 138460334 138589993 TRIM24 chr7 138831381 138981318 KIAA1549 chr7 139230356 139308236 UBN2 -chr7 140719327 140924764 BRAF chr7 142111722 142223533 MGAM2 chr7 142299011 142813287 TRB chr7 143353400 143362770 FAM131B @@ -1141,7 +1137,6 @@ chrX 71144831 71171201 NLGN3 chrX 71239624 71255146 ZMYM3 chrX 71283192 71301168 NONO chrX 71366239 71532374 TAF1 -chrX 77504878 77786269 ATRX chrX 83861126 83886699 CYLC1 chrX 100291644 100410273 PCDH19 chrX 101349447 101390796 BTK @@ -1165,3 +1160,307 @@ chrY 1187549 1212750 CRLF2 chrY 1268800 1310381 CSF2RA chrY 1462572 1537107 P2RY8 chrY 2691179 2741309 CD99 +chr1 1785285 1891117 GNB1 +chr1 6181269 6209389 RPL22 +chr1 8004404 8026308 ERRFI1 +chr1 9651732 9729114 PIK3CD +chr1 16124337 16156087 EPHA2 +chr1 16740273 16972979 CROCC +chr1 23691779 23696425 RPL11 +chr1 26693236 26782104 ARID1A +chr1 27612064 27635277 FGR +chr1 45012147 45015575 UROD +chr1 47216290 47232220 TAL1 +chr1 48532855 50023913 AGBL4 +chr1 64833229 64966504 JAK1 +chr1 92832025 92841924 RPL5 +chr1 114704469 114716894 NRAS +chr1 150574551 150579738 MCL1 +chr1 154405193 154469450 IL6R +chr1 155897808 155911404 RIT1 +chr1 156463727 156500828 MEF2D +chr1 218346235 218444619 TGFB2 +chr1 224114087 224162047 FBXO28 +chr1 241652278 241802133 WDR64 +chr1 245749342 246507312 SMYD3 +chr10 6427143 6580301 PRKCQ +chr10 19048771 19790401 MALRD1 +chr10 21524675 21743630 MLLT10 +chr10 28532493 28623112 WAC +chr10 52314296 52318042 DKK1 +chr10 79069035 79316528 ZMIZ1 +chr10 81875314 82987179 NRG3 +chr10 87863113 87971930 PTEN +chr10 101130505 101137789 TLX1 +chr10 109996368 110135565 ADD3 +chr10 110567691 110604636 SMC3 +chr11 1995163 2001470 H19 +chr11 2608328 2699994 KCNQ1OT1 +chr11 2883213 2885881 CDKN1C +chr11 3671083 3797792 NUP98 +chr11 9573681 9593457 WEE1 +chr11 32387775 32435630 WT1 +chr11 33858576 33892289 LMO2 +chr11 36510709 36593156 RAG1 +chr11 36575574 36598279 RAG2 +chr11 47354860 47378576 SPI1 +chr11 64234538 64238793 VEGFB +chr11 69771016 69775403 FGF4 +chr11 69810224 69819024 FGF3 +chr11 70467856 71252577 SHANK2 +chr11 71428193 71452868 DHCR7 +chr11 86244544 86278813 EED +chr11 118436490 118526832 KMT2A +chr11 119084866 119093549 HMBS +chr11 119206276 119313926 CBL +chr11 125625136 125676255 CHEK1 +chr12 6570083 6607476 CHD4 +chr12 6666477 6689572 ZNF384 +chr12 11649854 11895402 ETV6 +chr12 12715058 12722371 CDKN1B +chr12 14365632 14502935 ATF7IP +chr12 25204789 25250936 KRAS +chr12 45729665 45908040 ARID2 +chr12 47782722 47833132 HDAC7 +chr12 49018975 49059774 KMT2D +chr12 51906908 51923361 ACVRL1 +chr12 55966769 55972784 CDK2 +chr12 65169571 65248327 LEMD3 +chr12 103930107 103953645 HSP90B1 +chr12 111405948 111451623 SH2B3 +chr12 112418351 112509913 PTPN11 +chr13 28003274 28100592 FLT3 +chr13 28300344 28495145 FLT1 +chr13 32586427 32778019 PDS5B +chr13 40932028 41061440 ELF1 +chr13 44373665 44397714 SERP2 +chr13 48303751 48481986 RB1 +chr13 48389567 48444704 LPAR6 +chr13 50082171 50723236 DLEU1 +chr14 22422371 22423042 TRDV2 +chr14 22439007 22439015 TRDD2 +chr14 22449113 22449125 TRDD3 +chr14 22513939 22513998 TRAJ29 +chr14 34752731 34875647 BAZ1A +chr14 45135940 45200890 FANCM +chr14 56813183 57152177 OTX2-AS1 +chr14 60643415 60658259 SIX1 +chr14 61187559 61550976 PRKCH +chr14 75958099 75982991 TGFB3 +chr14 94376747 94390693 SERPINA1 +chr14 103697609 103715504 XRCC3 +chr14 104769349 104795751 AKT1 +chr14 105864215 105864260 IGHJ4 +chr14 106775157 106775618 IGHV3-71 +chr15 34341713 34343177 NOP10 +chr15 40694774 40732339 RAD51 +chr15 40929340 40939072 DLL4 +chr15 40978880 41116354 INO80 +chr15 41557675 41583586 TYRO3 +chr15 41621224 41773081 MGA +chr15 75935969 76059795 NRG4 +chr16 3581181 3611598 SLX4 +chr16 3651639 3717597 TRAP1 +chr16 3725054 3880726 CREBBP +chr16 4257186 4273075 TFAP4 +chr16 4314761 4339597 GLIS2 +chr16 8892094 8964514 USP7 +chr16 15643267 15726353 NDE1 +chr16 23677656 23690367 PLK1 +chr16 30114105 30123506 MAPK3 +chr16 67029116 67101058 CBFB +chr16 67562407 67639183 CTCF +chr16 71637835 71724701 PHLPP2 +chr17 8204733 8210600 AURKB +chr17 16029157 16218185 NCOR1 +chr17 20999593 21043760 USP22 +chr17 28950513 29057220 PIPOX +chr17 31094927 31382116 NF1 +chr17 31937018 32001045 SUZ12 +chr17 39757715 39864188 IKZF3 +chr17 42199168 42276707 STAT5B +chr17 58692573 58735611 RAD51C +chr17 58982638 59106921 TRIM37 +chr17 59209400 59215247 SMG8 +chr17 59893046 59950564 RPS6KB1 +chr17 66302636 66810743 PRKCA +chr17 72323123 72640472 LINC00511 +chr17 75318076 75405709 GRB2 +chr17 76470891 76501790 RHBDF2 +chr17 80544819 80966371 RPTOR +chr17 81556887 81648465 NPLOC4 +chr18 12785478 12929643 PTPN2 +chr18 49041474 49461347 DYM +chr18 62715450 62980433 PHLPP1 +chr19 851014 856247 ELANE +chr19 1609290 1652605 TCF3 +chr19 4044364 4066945 ZBTB7A +chr19 7112255 7294034 INSR +chr19 10133345 10231286 DNMT1 +chr19 10718079 10833488 DNM2 +chr19 10961001 11065395 SMARCA4 +chr19 11377205 11384342 EPOR +chr19 17824780 17848071 JAK3 +chr19 33299934 33302564 CEBPA +chr19 34428352 34471251 UBA2 +chr19 39498895 39508481 DLL3 +chr19 41219203 41261766 AXL +chr19 41301587 41353911 TGFB1 +chr19 45407333 45478828 ERCC1 +chr19 54137728 54155681 CNOT3 +chr19 54415219 54436900 TTYH1 +chr19 55654146 55674715 U2AF2 +chr19 57230802 57235548 AURKC +chr2 15921037 15942249 MYCNOS +chr2 15940564 15947007 MYCN +chr2 16549459 16666331 FAM49A +chr2 25733753 25878516 ASXL2 +chr2 43222402 43226609 ZFP36L2 +chr2 45005161 45009430 SIX2 +chr2 45651345 46187990 PRKCE +chr2 47345158 47387601 EPCAM +chr2 49918505 51225575 NRXN1 +chr2 58159243 58241372 FANCL +chr2 73986404 74108176 TET3 +chr2 87755955 87825952 RGPD2 +chr2 111898479 112029561 MERTK +chr2 112829751 112836903 IL1B +chr2 144364364 144524583 ZEB2 +chr2 203867786 203873960 CTLA4 +chr2 212999691 213152427 IKZF2 +chr2 231961245 232344350 DIS3L2 +chr2 232697299 232860575 GIGYF2 +chr20 32052188 32101856 HCK +chr20 32358344 32439319 ASXL1 +chr20 32762385 32809356 DNMT3B +chr20 33273480 33309878 BPIFB1 +chr20 53567065 53609907 ZNF217 +chr20 56369389 56392337 AURKA +chr20 61252426 61940617 CDH4 +chr21 34787801 36004667 RUNX1 +chr21 38380027 38661780 ERG +chr21 38805307 38824955 ETS2 +chr22 20917426 20953749 CRKL +chr22 22030934 22031472 IGLV4-69 +chr22 22887780 22896107 IGLL5 +chr22 28794555 28800597 XBP1 +chr22 30262829 30266840 OSM +chr22 41091786 41180079 EP300 +chr22 50263713 50270767 MAPK11 +chr3 47016429 47163967 SETD2 +chr3 49887002 49903873 MST1R +chr3 53156009 53192717 PRKCD +chr3 66378797 66501263 LRIG1 +chr3 112332347 112362812 CD200 +chr3 116709235 116723581 TUSC7 +chr3 116716460 116716624 TUSC7 +chr3 128479427 128493185 GATA2 +chr3 164978898 165078495 SI +chr3 177019340 177228000 TBL1XR1 +chr4 849276 932373 GAK +chr4 24517441 24584550 DHX15 +chr4 39822863 39977956 PDS5A +chr4 54657918 54740715 KIT +chr4 105145875 105279816 TET2 +chr4 108047545 108168956 LEF1 +chr4 122826708 122898236 FGF2 +chr4 148078762 148444698 NR3C2 +chr4 152321259 152536101 FBXW7 +chr4 171812254 173041559 GALNTL6 +chr4 190173774 190185942 DUX4 +chr5 1225355 1246189 SLC6A18 +chr5 1253147 1295069 TERT +chr5 31400497 31532196 DROSHA +chr5 35852695 35879603 IL7R +chr5 36876759 37066413 NIPBL +chr5 38845858 38945596 OSMR +chr5 68215720 68301821 PIK3R1 +chr5 69234795 69277430 CDK7 +chr5 87267888 87391931 RASA1 +chr5 88717117 88904257 MEF2C +chr5 128257909 128659185 FBN2 +chr5 134114711 134151865 TCF7 +chr5 139846779 140043299 NRG2 +chr5 142592178 142698070 FGF1 +chr5 143277931 143435512 NR3C1 +chr5 158695916 159099761 EBF1 +chr5 171309284 171312134 TLX3 +chr5 171387116 171411137 NPM1 +chr5 178149460 178153967 NHP2 +chr6 1623806 2245692 GMDS +chr6 10393186 10419659 TFAP2A +chr6 19837386 19840684 ID4 +chr6 26087281 26098343 HFE +chr6 29941260 29945884 HLA-A +chr6 30876421 30900156 DDR1 +chr6 32194843 32224067 NOTCH4 +chr6 32517343 32530287 HLA-DRB5 +chr6 32578769 32589848 HLA-DRB1 +chr6 32628179 32647062 HLA-DQA1 +chr6 32659467 32668383 HLA-DQB1 +chr6 32756098 32763534 HLA-DQB2 +chr6 32968660 32981505 BRD2 +chr6 36027677 36111236 MAPK14 +chr6 41934933 42050357 CCND3 +chr6 43576150 43615660 POLH +chr6 43770184 43786487 VEGFA +chr6 63719980 65707225 EYS +chr6 111660332 111873452 FYN +chr6 135181315 135219173 MYB +chr6 160991727 161117385 MAP3K4 +chr6 170282206 170306565 DLL1 +chr7 497258 520296 PDGFA +chr7 5527151 5563784 ACTB +chr7 18086949 19002416 HDAC9 +chr7 22725884 22732002 IL6 +chr7 27170591 27180261 HOXA10 +chr7 50304124 50405101 IKZF1 +chr7 69598919 70793068 AUTS2 +chr7 81699006 81770438 HGF +chr7 100673531 100679174 GNB2 +chr7 105014179 105114361 KMT2E +chr7 106865278 106907145 PIK3CG +chr7 140719327 140924764 BRAF +chr7 142749468 142753076 PRSS1 +chr7 148807383 148884321 EZH2 +chr7 151466012 151520120 RHEB +chr7 155799986 155812273 SHH +chr8 11494001 11564604 BLK +chr8 11676959 11760002 GATA4 +chr8 55879813 56014168 LYN +chr8 58805418 59119208 TOX +chr8 97775057 97853013 LAPTM4B +chr8 104590733 105804532 ZFPM2 +chr8 127735434 127741434 MYC +chr8 140657900 141002216 PTK2 +chr9 4984390 5128183 JAK2 +chr9 8314246 10612723 PTPRD +chr9 21802543 21937651 MTAP +chr9 21967753 21995301 CDKN2A +chr9 35657751 35658018 RMRP +chr9 35657754 35658017 RMRP +chr9 36833275 37034185 PAX5 +chr9 37120539 37358149 ZCCHC7 +chr9 127785679 127790787 CDK9 +chr9 127815012 127854756 ENG +chr9 132592997 132670401 DDX31 +chr9 136494444 136545862 NOTCH1 +chrX 1187549 1212750 CRLF2 +chrX 41085635 41236579 USP9X +chrX 44873177 45112602 KDM6A +chrX 53082367 53088540 TSPYL2 +chrX 71118556 71142454 MED12 +chrX 74585217 74614617 RLIM +chrX 77504878 77786269 ATRX +chrX 107628424 107651026 PRPS1 +chrX 123960212 124422664 STAG2 +chrX 124227868 124373197 SH2D1A +chrX 134373253 134428791 PHF6 +chrX 154389955 154409168 RPL10 +chrX 154762742 154777689 DKC1 +chrX 155997581 156010817 IL9R +chrY 1187549 1212750 CRLF2 +chrY 2786855 2787699 SRY +chrY 12701231 12860839 USP9Y +chrY 13248379 13480673 UTY +chrY 57184101 57197337 IL9R