Hi all
Here is the head .vcf file after annotation by ANNOVAR. (for tumor sample file)
Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene Func_ensGene Gene_ensGene GeneDetail_ensGene ExonicFunc_ensGene AAChange_ensGene avsnp150 CLNALLELEID CLNDN CLNDISDB CLNREVSTAT CLNSIG Coding_CosmicV92 DamagePredCount SIFT_pred SIFT4G_pred Polyphen2_HDIV_pred Polyphen2_HVAR_pred LRT_pred MutationTaster_pred MutationAssessor_pred FATHMM_pred PROVEAN_pred VEST4_score MetaSVM_pred MetaLR_pred M.CAP_pred REVEL_score MutPred_score MVP_score MPC_score PrimateAI_pred DEOGEN2_pred BayesDel_addAF_pred BayesDel_noAF_pred ClinPred_pred LIST.S2_pred CADD_raw CADD_phred DANN_score fathmm.MKL_coding_pred fathmm.XF_coding_pred Eigen.raw_coding Eigen.phred_coding Eigen.PC.raw_coding Eigen.PC.phred_coding GenoCanyon_score integrated_fitCons_score GM12878_fitCons_score H1.hESC_fitCons_score HUVEC_fitCons_score LINSIGHT GERP.._NR GERP.._RS phyloP100way_vertebrate phyloP30way_mammalian phyloP17way_primate phastCons100way_vertebrate phastCons30way_mammalian phastCons17way_primate bStatistic Interpro_domain GTEx_V8_gene GTEx_V8_tissue AF AF_popmax AF_male AF_female AF_raw AF_afr AF_sas AF_amr AF_eas AF_nfe AF_fin AF_asj AF_oth non_topmed_AF_popmax non_neuro_AF_popmax non_cancer_AF_popmax controls_AF_popmax AF.1 AF_popmax.1 AF_male.1 AF_female.1 AF_raw.1 AF_afr.1 AF_sas.1 AF_amr.1 AF_eas.1 AF_nfe.1 AF_fin.1 AF_asj.1 AF_oth.1 non_topmed_AF_popmax.1 non_neuro_AF_popmax.1 non_cancer_AF_popmax.1 controls_AF_popmax.1 ICGC_Id ICGC_Occurrence Noncoding_CosmicV92 Mutation_type_DoCM_3.2 Info.CIViC InterVar_automated PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5 BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP3 BP4 BP5 BP6 BP7 Kaviar_AF Kaviar_AC Kaviar_AN Otherinfo1 Otherinfo2 Otherinfo3 Otherinfo4 Otherinfo5 Otherinfo6 Otherinfo7 Otherinfo8 Otherinfo9 Otherinfo10 Otherinfo11 Otherinfo12 Otherinfo13 Otherinfo14
chr12 53894576 53894576 - G upstream TARBP2 dist=129 . . ncRNA_exonic ENSG00000270175 . . . rs398019638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0858 0.0965 0.0867 0.0846 0.0860 0.0814 . 0.0532 0.0432 0.0965 0.0715 0.1469 0.0858 0.0948 0.0965 . 0.0922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.00146 38 26028 0.25 . 19 chr12 53894576 rs398019638_53894576 C CG . GTQ;QUAL;badReads BRF=0.43;DB;FR=0.2500;HP=8;HapScore=2;MGOF=15;MMLQ=12;MQ=60.0;NF=5;NR=2;PP=139;QD=22.2857142857;SC=GAGGCGGGGTCGGGGGGGGCT;SOMATIC;SbPval=0.78;Source=Platypus;TC=28;TCF=15;TCR=13;TR=7;WE=53894584;WS=53894566 GT:GL:GOF:GQ:NR:NV 0/0:0.0,-4.0,-27.8:15:40:9:0 0/1:-16.58,0.0,-16.28:5:99:19:7
chr14 95555538 95555538 T - UTR3 DICER1 NM_001291628.1:c.*1297delA;NM_001271282.3:c.*1297delA;NM_177438.2:c.*1297delA;NM_001195573.1:c.*1413delA;NM_030621.4:c.*1297delA . . UTR3 ENSG00000100697 ENST00000526495:c.*1297delA;ENST00000343455:c.*1297delA;ENST00000393063:c.*1297delA . . rs899307216 . . . . . ID=COSV58616739;OCCURENCE=1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0098 0.0034 0.0032 0.0067 0.0049 . 0.0098 0.0046 0.0011 0.0083 0.0043 0.0072 0.0104 0.0055 . 0.0109 MU67398057 ORCA-IN|1|178|0.00561798 ID=COSV58616739;OCCURENCE=1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001537 4 26028 0.25 . 27 chr14 95555537 . GT G . VAFC BRF=0.27;FR=0.2501;HP=13;HapScore=3;MGOF=8;MMLQ=18;MQ=58.97;NF=7;NR=13;PP=214;QD=10.95;SC=GCCTAAAGAAGTTTTTTTTTT;SOMATIC;SbPval=0.52;Source=Platypus;TC=61;TCF=26;TCR=35;TR=20;WE=95555547;WS=95555527 GT:GL:GOF:GQ:NR:NV 0/0:0.0,-4.81,-47.2:4:48:34:2 1/0:-22.7,0.0,-3.1:8:31:27:18
chr14 95557516 95557516 C T intron DICER1 NM_001291628.1:exon25:c.5527+24G>A;NM_001271282.3:exon25:c.5527+24G>A;NM_177438.2:exon25:c.5527+24G>A;NM_030621.4:exon27:c.5527+24G>A . . intron ENSG00000100697 ENST00000526495:exon27:c.5527+24G>A;ENST00000343455:exon25:c.5527+24G>A;ENST00000393063:exon26:c.5527+24G>A;ENST00000527414:exon25:c.5527+24G>A;ENST00000556045:exon8:c.2221+24G>A . . rs759709100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.196e-05 2.645e-05 1.473e-05 8.689e-06 1.193e-05 0 0 0 0 2.645e-05 0 0 0 2.694e-05 1.119e-05 2.929e-05 2.339e-05 . . . . . . . . . . . . . . . . . MU79342560 LIRI-JP|1|258|0.00387597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.94e-05 3 154602 0.25 . 35 chr14 95557516 . C T . PASS AF=0.00,0.37;MQ=60;SNP=.;SOMATIC GT:DP:DP4 0/0:36:22,14,0,0 0/1:35:10,12,8,5
chr14 95574595 95574595 T - intronic DICER1 . . . intronic ENSG00000100697 . . . rs878976709 . . . . . ID=COSV58626763;OCCURENCE=1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0043 0.0063 0.0043 0.0043 0.0077 0.0044 . 0.0063 0 0.0035 0.0133 0.0123 0.0025 0.0067 0.0051 . 0.0052 MU111921835 BTCA-SG|2|71|0.028169 ID=COSV58626763;OCCURENCE=1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005379 14 26028 0.5 . 35 chr14 95574594 . GT G . VAFC BRF=0.27;FR=0.5000;HP=13;HapScore=4;MGOF=9;MMLQ=18;MQ=59.61;NF=16;NR=14;PP=417;QD=14.0666666667;SC=CTTACTACTAGTTTTTTTTTT;SOMATIC;SbPval=0.39;Source=Platypus;TC=58;TCF=28;TCR=30;TR=30;WE=95574604;WS=95574584 GT:GL:GOF:GQ:NR:NV 0/0:0.0,-5.23,-37.5:2:52:23:3 1/1:-43.2,-5.17,0.0:9:52:35:27
chr14 95593160 95593163 AAAA - intronic DICER1 . . . intronic ENSG00000100697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 24 chr14 95593159 . CAAAA C . ALTC;QD;VAFC;badReads BRF=0.4;FR=0.2500;HP=14;HapScore=4;MGOF=15;MMLQ=12;MQ=57.48;NF=12;NR=19;PP=253;QD=8.29032258065;SC=TTTCAAAAAGCAAAAAAAAAA;SOMATIC;SbPval=0.77;Source=Platypus;TC=53;TCF=26;TCR=27;TR=31;WE=95593171;WS=95593147 GT:GL:GOF:GQ:NR:NV 0/0:0.0,-7.22,-73.1:11:72:29:13 0/1:-30.79,0.0,-18.39:15:99:24:18
chr16 24761873 24761873 A G intronic TNRC6A . . . intronic ENSG00000090905 . . . . . . . . . ID=COSV59371456;OCCURENCE=1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MU3773188 LIRI-JP|1|258|0.00387597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 40 chr16 24761873 . A G . PASS AF=0.00,0.50;MQ=60;SNP=.;SOMATIC GT:DP:DP4 0/0:33:20,13,0,0 0/1:40:12,8,9,11
chr16 24788148 24788148 T - intronic TNRC6A . . . intronic ENSG00000090905 . . . . . . . . . ID=COSV100170668;OCCURENCE=1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MU9052063 LIRI-JP|1|258|0.00387597,PACA-AU|1|391|0.00255754,GACA-JP|1|585|0.0017094 ID=COSV100170668;OCCURENCE=1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 49 chr16 24788147 . GT G . PASS BRF=0.13;FR=0.2500;HP=8;HapScore=2;MGOF=8;MMLQ=31;MQ=60.0;NF=11;NR=9;PP=463;QD=24.2;SC=GAAAGCTTCTGTTTTTTTAGG;SOMATIC;SbPval=0.25;Source=Platypus;TC=83;TCF=35;TCR=48;TR=20;WE=24788156;WS=24788137 GT:GL:GOF:GQ:NR:NV 0/0:0.0,-8.73,-101.8:4:87:34:0 1/0:-49.35,0.0,-79.85:8:99:49:20
chr16 24802029 24802029 A - exonic TNRC6A . frameshift deletion TNRC6A:NM_001330520.3:exon6:c.2066delA:p.S690Vfs*19,TNRC6A:NM_001351850.2:exon6:c.2093delA:p.S699Vfs*19,TNRC6A:NM_014494.4:exon6:c.2066delA:p.S690Vfs*19 exonic ENSG00000090905 . frameshift deletion ENSG00000090905:ENST00000315183:exon6:c.2066delA:p.S690Vfs*19,ENSG00000090905:ENST00000395799:exon6:c.2066delA:p.S690Vfs*19 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MU3773189 LIRI-JP|1|258|0.00387597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 45 chr16 24802028 . GA G . PASS BRF=0.17;FR=0.2500;HP=3;HapScore=2;MGOF=8;MMLQ=25;MQ=59.58;NF=4;NR=14;PP=586;QD=34.4444444444;SC=AGGAACTGGGGAAAGTCAGAG;SOMATIC;SbPval=0.78;Source=Platypus;TC=69;TCF=17;TCR=52;TR=18;WE=24802037;WS=24802018 GT:GL:GOF:GQ:NR:NV 0/0:0.0,-6.92,-103.8:3:69:24:0 0/1:-62.96,0.0,-109.46:8:99:45:18
chr16 24807066 24807066 T G intronic TNRC6A . . . intronic ENSG00000090905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . 45 chr16 24807066 . T G . FRQ;RE;SBAF;TAC AF=0.00,0.04;MQ=60;SNP=.;SOMATIC GT:DP:DP4 0/0:36:20,16,0,0 0/0:45:26,17,0,2
chr16 24833635 24833635 G T intronic TNRC6A . . . intronic ENSG00000090905 . . . . . . . . . ID=COSV59371481;OCCURENCE=1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MU3773192 LIRI-JP|1|258|0.00387597 ID=COSV59371481;OCCURENCE=1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 38 chr16 24833635 . G T . PASS AF=0.00,0.55;MQ=60;SNP=.;SOMATIC GT:DP:DP4 0/0:21:10,11,0,0 0/1:38:7,10,12,9
chr16 24835952 24835952 A - UTR3 TNRC6A NM_001351850.2:c.*824delA;NM_001330520.3:c.*824delA;NM_014494.4:c.*824delA . . UTR3 ENSG00000090905 ENST00000315183:c.*824delA;ENST00000395799:c.*824delA;ENST00000491718:c.*6238delA;ENST00000450465:c.*824delA;ENST00000432286:c.*242delA . . rs35671423 . . . . . ID=COSV59362162;OCCURENCE=2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2798 0.3408 0.2769 0.2833 0.2550 0.1971 . 0.1744 0.0007 0.3408 0.3922 0.2370 0.2902 0.3435 0.3406 . 0.3678 MU75989519 COCA-CN|1|321|0.00311526 ID=COSV59362162;OCCURENCE=2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0363455 946 26028 0.25 . 42 chr16 24835951 rs35671423_24835951 CA C . VAFC BRF=0.32;DB;FR=0.2500;HP=11;HapScore=2;MGOF=15;MMLQ=25;MQ=59.49;NF=5;NR=9;PP=174;QD=13.2857142857;SC=ATGTAAAAGACAAAAAAAAAA;SOMATIC;SbPval=0.26;Source=Platypus;TC=62;TCF=36;TCR=26;TR=14;WE=24835960;WS=24835941 GT:GL:GOF:GQ:NR:NV 0/0:0.0,-6.32,-48.2:3:63:20:1 0/1:-19.59,0.0,-41.09:15:99:42:13
chr17 62495643 62495643 A - UTR3 DDX5 NM_001320597.2:c.*398delT;NM_001320596.2:c.*398delT;NM_001320595.2:c.*398delT;NM_004396.5:c.*398delT . . downstream ENSG00000108654 dist=91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.851e-05 0.0007 0 0.0001 0.0003 0 . 0 0.0007 0 0 0 0 0.0007 0.0007 . . MU111999412 COCA-CN|1|321|0.00311526,BTCA-SG|1|71|0.0140845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001537 4 26028 0.25 . 46 chr17 62495642 . GA G . VAFC BRF=0.39;FR=0.2500;HP=10;HapScore=3;MGOF=13;MMLQ=26;MQ=58.56;NF=14;NR=12;PP=268;QD=10.7692307692;SC=TGTTTTCATGGAAAAAAAAAA;SOMATIC;SbPval=0.51;Source=Platypus;TC=86;TCF=44;TCR=42;TR=26;WE=62495651;WS=62495632 GT:GL:GOF:GQ:NR:NV 0/0:0.0,-11.64,-86.2:3:99:40:4 0/1:-28.95,0.0,-36.15:13:99:46:22
Now I don't know which of the variants are correct and acceptable. I would appreciate it if you could give me some hints.
2 answers
To find correct variants, GATK recommends filtering on QD > 2. (QD = QUAL/DP) I believe you would have to do this before annotation. (See the link below for GATK's recommendations.) After annotation, it depends on what you're looking for. The CADD_phred score is supposed to give you the most deleterious variants, although this is not always the case in practice. To find the variants in the top 10% for CADD_phred, you would filter on CADD_phred > 10. (See the second link below.)
Dear Zahra,
it's not easy to help you as the file that you attached has some format issues. Anyway, if you mean which variant has passed the quality control you have to use the "FILTER" field that usually contain values as "PASS". That means that the variant has passed the quality check.
Best regards,
AY
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