diff --git a/.gitignore b/.gitignore index 0ec05b6..9392b3d 100644 --- a/.gitignore +++ b/.gitignore @@ -29,6 +29,8 @@ MANIFEST out* test.txt tmpout +tests/test_*/*.vcf +*.log # PyInstaller # Usually these files are written by a python script from a template diff --git a/CHANGES.md b/CHANGES.md index 227193e..a95e73a 100644 --- a/CHANGES.md +++ b/CHANGES.md @@ -1,4 +1,6 @@ +## 1.2.1 +* updated documentation and README ## 1.2.0 * Added json config paramter to accept filtering paramaters * removed commandline paramaters that are now read from config file diff --git a/Dockerfile b/Dockerfile index 596ba43..3b8fc51 100644 --- a/Dockerfile +++ b/Dockerfile @@ -3,7 +3,7 @@ USER root MAINTAINER cgphelp@sanger.ac.uk -ENV ANNOTATEVCF_VER '1.2.0' +ENV ANNOTATEVCF_VER '1.2.1' # install system tools RUN apt-get -yq update @@ -40,7 +40,7 @@ RUN pip3 install --install-option="--prefix=$CGP_OPT/python-lib" dist/$(ls -1 di FROM ubuntu:20.04 LABEL uk.ac.sanger.cgp="Cancer Genome Project, Wellcome Sanger Institute" \ - version="1.2.0" \ + version="1.2.1" \ description="Tool to perform vcf file annotation" ### security upgrades and cleanup diff --git a/README.md b/README.md index ebb903e..45ef501 100644 --- a/README.md +++ b/README.md @@ -41,13 +41,13 @@ Various exceptions can occur for malformed input files. * ```input_vcf.gz``` snv or indel vcf file annotated using [VAGrENT] * ```normal_panel.vcf.gz``` normal panel to tag germline variants [VAGrENT] * ```lof_genes.txt ``` list of known loss of function [LoF] genes along with previous gene symbols ( to make sure all gene synonyms were matched with input vcf) - * ```consequence types``` lof consequence types to restrict driver gene annotations + * ```filters.json``` filters to be applied during driver annotations ( see default file ```filters.josn``` in config folder) * ```driver_mutations.tsv.gz``` tab separated driver mutations along with consequence type * ```info.header``` vcf header INFO line ### outputFormat - * ```.drv.vcf.gz ``` output vcf file with DRV info field and consequence type if known, LoF in case annotated using LoF gene list. + * ```_drv.vcf.gz ``` output vcf file with DRV info field and consequence type if known, LoF in case annotated using LoF gene list. ## INSTALL Installing via `pip install`. Simply execute with the path to the compiled 'whl' found on the [release page][annotateVcf-releases]: diff --git a/annotate/commandline.py b/annotate/commandline.py index b81169c..ad9433e 100644 --- a/annotate/commandline.py +++ b/annotate/commandline.py @@ -29,8 +29,7 @@ def main(): default=None, help="vcf_file to annotate") optional.add_argument("-filters", "--vcf_filters", type=str, dest="vcf_filters", required=False, - default=filters_json, help="Include vcf filters \ - configuration file in json (param:value) format \ + default=filters_json, help="Include vcf filters file in json format \ [please refer bcftools documentation for more details \ : http://samtools.github.io/bcftools/bcftools.html#expressions]") @@ -38,7 +37,7 @@ def main(): default=None, help="normal panel file to flag germline variant sites") optional.add_argument("-g", "--lof_genes", type=str, dest="lof_genes", required=False, - default=None, help="LoF gene name file to use annotations") + default=None, help="Known LoF genes file to annotate LoF variants") optional.add_argument("-m", "--mutations", type=str, dest="mutations", required=False, default=None, help="driver mutations file to use for driver variant annotations") @@ -70,6 +69,5 @@ def main(): with formatter.tempdir(outdir_path['outdir']) as base_dir: annotator.VcfAnnotator(my_formatter, base_dir) - if __name__ == '__main__': main() diff --git a/setup.py b/setup.py index 8939e02..126ede2 100644 --- a/setup.py +++ b/setup.py @@ -3,7 +3,7 @@ from setuptools import setup config = { - 'version': '1.2.0', + 'version': '1.2.1', 'name': 'annotateVcf', 'description': 'Tool to annotate and filter vcf files...', 'author': 'Shriram Bhosle', diff --git a/tests/test_output_no_vaf_vcf/input_genes.vcf b/tests/test_output_no_vaf_vcf/input_genes.vcf deleted file mode 100644 index 11b5f03..0000000 --- a/tests/test_output_no_vaf_vcf/input_genes.vcf +++ /dev/null @@ -1,97 +0,0 @@ -##fileformat=VCFv4.1 -##FILTER= -##FILTER== 25 base quality"> -##FILTER= -##FILTER== 15 base quality found in the matched normal"> -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER== 3 mutant allele present in at least 1 percent unmatched normal samples in the unmatched VCF."> -##FILTER== 10 on each strand but mutant allele is only present on one strand"> -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##SAMPLE= -##SAMPLE= -##cavemanVersion=1.14.1 -##cgpAnalysisProc_20200116.1=5524663 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##fileDate=20200115 -##reference=/lustre/scratch119/casm/team78pipelines/canpipe/live/data/analysis/2126_2577635/CaVEMan/genome.fa -##source_20200119.1=AnnotateVcf.pl -##vcfProcessLog=,InputVCFSource=,InputVCFParam=> -##vcfProcessLog_20200116.1=,InputVCFSource=,InputVCFVer=<1.8.9>,InputVCFParam=> -##vcfProcessLog_20200119.1=,InputVCFSource=,InputVCFVer=<3.5.2>,InputVCFParam=> -##bcftools_viewVersion=1.12+htslib-1.12 -##bcftools_viewCommand=view -R lof_pos.txt /lustre/scratch117/casm/team215/sb43/organoid_analysis/WGS/p2126/out_vafcorrect//WTSI-COLO_005_1pre.caveman_c.annot.vcf.gz; Date=Tue Mar 30 14:23:07 2021 -##INFO= -##bcftools_annotateVersion=1.12+htslib-1.12 -##bcftools_annotateCommand=annotate -a test_output/tmpdtvu0kq9/genome.tab.gz -i '(FILTER="PASS" ) && ( INFO/VC="stop_lost,start_lost,ess_splice,frameshift,nonsense")' -h /nfs/users/nfs_s/sb43/scripts/annotatevcf_github/annotate/config/info.header -c CHROM,FROM,TO,INFO/DRV input.vcf.gz; Date=Tue Mar 30 16:55:58 2021 -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NORMAL TUMOUR -chr1 161193208 3883f734-37d6-11ea-a6a1-4d80907df7c2 C A . PASS DP=63;MP=1;GP=1.5e-07;TG=CC/ACC;TP=0.99;SG=CC/AAC;SP=0.014;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=ADAMTS4|CCDS1223.1|r.2340+5g>u|c.1911+5G>T|p.?|protein_coding:CDS:extended_cis_splice_site:substitution:splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:0001993:SO:1000002:SO:0001629:SO:0001576;VC=ess_splice;VW=ADAMTS4|CCDS1223.1|r.2340+5g>u|c.1911+5G>T|p.?|protein_coding:CDS:extended_cis_splice_site:substitution:splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:0001993:SO:1000002:SO:0001629:SO:0001576;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:12:0:0:0:15:0:0:0 0|1:9:12:0:0:5:9:1:0:0.39 -chr1 219210652 38868fa8-37d6-11ea-a6a1-4d80907df7c2 G A . PASS DP=91;MP=1;GP=2.6e-13;TG=GG/AAG;TP=1;SG=GG/AGG;SP=3.4e-06;ASRD=0.92;CLPM=0;ASMD=139.5;VT=Sub;VD=LYPLAL1|CCDS1522.1|r.524+5g>a|c.477+5G>A|p.?|protein_coding:CDS:extended_cis_splice_site:substitution:splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:0001993:SO:1000002:SO:0001629:SO:0001576;VC=ess_splice;VW=LYPLAL1|CCDS1522.1|r.524+5g>a|c.477+5G>A|p.?|protein_coding:CDS:extended_cis_splice_site:substitution:splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:0001993:SO:1000002:SO:0001629:SO:0001576;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:0:26:0:0:0:21:0:0 0|1:17:1:7:0:13:0:6:0:0.68 -chr1 247934046 3887f190-37d6-11ea-a6a1-4d80907df7c2 C A . PASS DP=76;MP=1;GP=1.3e-13;TG=CC/ACC;TP=1;SG=CC/AAC;SP=0.0014;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=OR2AJ1|ENST00000318244|r.580c>a|c.278C>A|p.S93*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=OR2AJ1|ENST00000318244|r.580c>a|c.278C>A|p.S93*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:22:0:0:0:26:0:0:0 0|1:2:9:0:0:7:10:0:0:0.32 -chr10 113160663 38932966-37d6-11ea-a6a1-4d80907df7c2 C T . PASS DP=72;MP=1;GP=9.3e-10;TG=CC/CCT;TP=0.52;SG=CC/CTT;SP=0.48;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=TCF7L2|CCDS53577.1|r.1713c>u|c.1363C>T|p.R455*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=TCF7L2|CCDS53577.1|r.1713c>u|c.1363C>T|p.R455*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:17:0:0:1:17:0:0:0 0|1:0:13:0:8:0:6:0:10:0.49 -chr13 43888891 38b522aa-37d6-11ea-a6a1-4d80907df7c2 G T . PASS DP=89;MP=1;GP=2e-12;TG=GG/GGGT;TP=1;SG=GG/GGTT;SP=1.6e-05;ASRD=0.93;CLPM=0;ASMD=141;VT=Sub;VD=LACC1|CCDS9391.1|r.1527g>u|c.1042G>T|p.E348*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=LACC1|CCDS9391.1|r.1527g>u|c.1042G>T|p.E348*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:0:23:0:0:0:21:0:0 0|1:0:0:22:3:0:0:17:3:0.13 -chr15 44715437 38c39ba0-37d6-11ea-a6a1-4d80907df7c2 C T . PASS DP=77;MP=1;GP=6.8e-14;TG=CC/TT;TP=1;SG=CC/CT;SP=6.5e-06;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=B2M|CCDS10113.1|r.152c>u|c.82C>T|p.Q28*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=B2M|CCDS10113.1|r.152c>u|c.82C>T|p.Q28*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:33:0:0:0:16:1:0:0 1|1:0:0:0:7:0:1:0:19:0.96 -chr18 56686854 38d994dc-37d6-11ea-a6a1-4d80907df7c2 G T . PASS DP=69;MP=1;GP=1.2e-13;TG=GG/GT;TP=1;SG=GT/GT;SP=1.2e-13;ASRD=0.87;CLPM=0;ASMD=131;VT=Sub;VD=WDR7|CCDS11962.1|r.809-1g>u|c.598-1G>T|p.?|protein_coding:CDS:extended_cis_splice_site:substitution:splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:0001993:SO:1000002:SO:0001629:SO:0001576;VC=ess_splice;VW=WDR7|CCDS11962.1|r.809-1g>u|c.598-1G>T|p.?|protein_coding:CDS:extended_cis_splice_site:substitution:splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:0001993:SO:1000002:SO:0001629:SO:0001576;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:0:29:0:0:0:19:0:0 0|1:0:0:6:7:1:0:2:5:0.57 -chr19 45821379 38ddcfca-37d6-11ea-a6a1-4d80907df7c2 C A . PASS DP=51;MP=1;GP=2.3e-06;TG=CC/AAC;TP=0.99;SG=CC/ACC;SP=0.01;ASRD=0.93;CLPM=0;ASMD=141;VT=Sub;VD=SYMPK|CCDS12676.2|r.3138+5g>u|c.2893+5G>T|p.?|protein_coding:CDS:extended_cis_splice_site:substitution:splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:0001993:SO:1000002:SO:0001629:SO:0001576;VC=ess_splice;VW=SYMPK|CCDS12676.2|r.3138+5g>u|c.2893+5G>T|p.?|protein_coding:CDS:extended_cis_splice_site:substitution:splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:0001993:SO:1000002:SO:0001629:SO:0001576;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:14:0:0:0:9:0:0:0 0|1:8:5:0:0:9:6:0:0:0.61 -chr2 1453776 38df3004-37d6-11ea-a6a1-4d80907df7c2 C T . PASS DP=71;MP=1;GP=7.7e-12;TG=CC/CCTT;TP=0.94;SG=CC/CCCT;SP=0.056;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=TPO|CCDS1643.1|r.656c>u|c.565C>T|p.R189*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=TPO|CCDS1643.1|r.656c>u|c.565C>T|p.R189*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:25:0:0:0:17:0:0:0 0|1:0:9:0:6:0:7:0:7:0.45 -chr2 165901790 38f5dd86-37d6-11ea-a6a1-4d80907df7c2 G A . PASS DP=81;MP=1;GP=1.8e-12;TG=GG/AAG;TP=1;SG=GG/AGG;SP=1.6e-05;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=TTC21B|CCDS33315.1|r.2827c>u|c.2689C>T|p.Q897*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=TTC21B|CCDS33315.1|r.2827c>u|c.2689C>T|p.Q897*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:0:22:0:0:0:22:0:0 0|1:15:0:7:0:11:0:4:0:0.7 -chr2 178775881 38f67ec6-37d6-11ea-a6a1-4d80907df7c2 C A . PASS DP=67;MP=1;GP=4.2e-10;TG=CC/AACC;TP=0.98;SG=CC/ACCC;SP=0.013;ASRD=0.93;CLPM=0;ASMD=141;VT=Sub;VD=TTN|CCDS59435.1|r.6208g>u|c.5983G>T|p.E1995*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=TTN|CCDS59435.1|r.6208g>u|c.5983G>T|p.E1995*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:18:0:0:0:18:0:0:0 0|1:10:6:0:0:5:10:0:0:0.48 -chr4 47645090 392fb844-37d6-11ea-a6a1-4d80907df7c2 T A . PASS DP=71;MP=1;GP=1.4e-09;TG=TT/ATT;TP=1;SG=TT/TTT;SP=1.3e-05;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=CORIN|CCDS3477.1|r.1948a>u|c.1948A>T|p.K650*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=CORIN|CCDS3477.1|r.1948a>u|c.1948A>T|p.K650*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:0:0:18:0:0:0:16:0 0|1:3:0:0:19:3:0:0:12:0.16 -chr5 17634694 393ed4e6-37d6-11ea-a6a1-4d80907df7c2 C T . PASS DP=85;MP=1;GP=1.9e-12;TG=CC/CCT;TP=1;SG=CC/CTT;SP=4.3e-06;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=AC233724.12|ENST00000512227|r.235c>u|c.235C>T|p.Q79*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=AC233724.12|ENST00000512227|r.235c>u|c.235C>T|p.Q79*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:23:0:0:0:21:0:0:0 0|1:0:10:0:7:0:20:0:4:0.27 -chr5 112815507 3948d8a6-37d6-11ea-a6a1-4d80907df7c2 C T . PASS DP=74;MP=1;GP=3.8e-15;TG=CC/TT;TP=1;SG=CC/CT;SP=0.00055;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=APC|CCDS4107.1|r.903c>u|c.847C>T|p.R283*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=APC|CCDS4107.1|r.903c>u|c.847C>T|p.R283*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:28:0:0:0:25:0:0:0 1|1:0:0:0:11:0:1:0:9:0.95 -chrX 135545510 398ea07a-37d6-11ea-a6a1-4d80907df7c2 A T . PASS DP=84;MP=1;GP=2.8e-11;TG=AA/AAAT;TP=1;SG=AA/AATT;SP=2.3e-05;ASRD=0.95;CLPM=0;ASMD=143.5;VT=Sub;VD=INTS6L|CCDS35401.1|r.611a>u|c.277A>T|p.R93*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=INTS6L|CCDS35401.1|r.611a>u|c.277A>T|p.R93*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:18:0:0:0:22:0:0:0:0 0|1:18:0:0:3:20:0:0:3:0.14 diff --git a/tests/test_output_no_vaf_vcf/input_genes_lof.vcf b/tests/test_output_no_vaf_vcf/input_genes_lof.vcf deleted file mode 100644 index ea73295..0000000 --- a/tests/test_output_no_vaf_vcf/input_genes_lof.vcf +++ /dev/null @@ -1,84 +0,0 @@ -##fileformat=VCFv4.1 -##FILTER= -##FILTER== 25 base quality"> -##FILTER= -##FILTER== 15 base quality found in the matched normal"> -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER== 3 mutant allele present in at least 1 percent unmatched normal samples in the unmatched VCF."> -##FILTER== 10 on each strand but mutant allele is only present on one strand"> -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##SAMPLE= -##SAMPLE= -##cavemanVersion=1.14.1 -##cgpAnalysisProc_20200116.1=5524663 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##fileDate=20200115 -##reference=/lustre/scratch119/casm/team78pipelines/canpipe/live/data/analysis/2126_2577635/CaVEMan/genome.fa -##source_20200119.1=AnnotateVcf.pl -##vcfProcessLog=,InputVCFSource=,InputVCFParam=> -##vcfProcessLog_20200116.1=,InputVCFSource=,InputVCFVer=<1.8.9>,InputVCFParam=> -##vcfProcessLog_20200119.1=,InputVCFSource=,InputVCFVer=<3.5.2>,InputVCFParam=> -##bcftools_viewVersion=1.12+htslib-1.12 -##bcftools_viewCommand=view -R lof_pos.txt /lustre/scratch117/casm/team215/sb43/organoid_analysis/WGS/p2126/out_vafcorrect//WTSI-COLO_005_1pre.caveman_c.annot.vcf.gz; Date=Tue Mar 30 14:23:07 2021 -##INFO= -##bcftools_annotateVersion=1.12+htslib-1.12 -##bcftools_annotateCommand=annotate -a test_output/tmpdtvu0kq9/genome.tab.gz -i '(FILTER="PASS" ) && ( INFO/VC="stop_lost,start_lost,ess_splice,frameshift,nonsense")' -h /nfs/users/nfs_s/sb43/scripts/annotatevcf_github/annotate/config/info.header -c CHROM,FROM,TO,INFO/DRV input.vcf.gz; Date=Tue Mar 30 16:55:58 2021 -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NORMAL TUMOUR -chr15 44715437 38c39ba0-37d6-11ea-a6a1-4d80907df7c2 C T . PASS DP=77;MP=1;GP=6.8e-14;TG=CC/TT;TP=1;SG=CC/CT;SP=6.5e-06;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=B2M|CCDS10113.1|r.152c>u|c.82C>T|p.Q28*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=B2M|CCDS10113.1|r.152c>u|c.82C>T|p.Q28*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:33:0:0:0:16:1:0:0 1|1:0:0:0:7:0:1:0:19:0.96 -chr5 112815507 3948d8a6-37d6-11ea-a6a1-4d80907df7c2 C T . PASS DP=74;MP=1;GP=3.8e-15;TG=CC/TT;TP=1;SG=CC/CT;SP=0.00055;ASRD=0.97;CLPM=0;ASMD=146;VT=Sub;VD=APC|CCDS4107.1|r.903c>u|c.847C>T|p.R283*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;VC=nonsense;VW=APC|CCDS4107.1|r.903c>u|c.847C>T|p.R283*|protein_coding:exon:CDS:substitution:codon_variant:stop_gained|SO:0000010:SO:0000147:SO:0000316:SO:1000002:SO:0001581:SO:0001587;DRV=LoF GT:FAZ:FCZ:FGZ:FTZ:RAZ:RCZ:RGZ:RTZ:PM 0|0:0:28:0:0:0:25:0:0:0 1|1:0:0:0:11:0:1:0:9:0.95