##fileformat=VCFv4.2 ##fileDate=00000000 ##center="NCI Genomic Data Commons (GDC)" ##gdcWorkflow= ##gdcWorkflow= ##INDIVIDUAL= ##SAMPLE= ##SAMPLE= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##reference=GRCh38.d1.vd1.fa ##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= ##VEP=v84 cache=/var/lib/cwl/job508096045_cache/gdc_vep_cache/homo_sapiens/84_GRCh38 db=. regbuild=13.0 sift=sift5.2.2 assembly=GRCh38.p5 gencode=GENCODE 22 genebuild=2014-07 polyphen=2.2.2 ESP=20141103 COSMIC=75 HGMD-PUBLIC=20154 dbSNP=146 ClinVar=201601 ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NORMAL TUMOR chr7 140753336 . A T . PASS DB;ECNT=1;HCNT=1;MAX_ED=.;MIN_ED=.;NLOD=35.51;TLOD=120.26;CSQ=T|missense_variant&NMD_transcript_variant|MODERATE|BRAF|ENSG00000157764|Transcript|ENST00000479537|nonsense_mediated_decay|2/6||ENST00000479537.4:c.83T>A|ENSP00000418033.1:p.Val28Glu|83/743|83/309|28/102|V/E|gTg/gAg|.|1||-1|cds_start_NF|SNV|HGNC|HGNC:1097||5|||ENSP00000418033||H7C4S5|UPI0001B79280|||deleterious(0.01)|possibly_damaging(0.676)|Pfam_domain:PF00069&Pfam_domain:PF07714&PROSITE_profiles:PS50011&Superfamily_domains:SSF56112|||||||||||||||||||pathogenic|1|1|21499247|||||673|,T|missense_variant|MODERATE|BRAF|ENSG00000157764|Transcript|ENST00000288602|protein_coding|15/18||ENST00000288602.9:c.1799T>A|ENSP00000288602.6:p.Val600Glu|1860/2480|1799/2301|600/766|V/E|gTg/gAg|.|1||-1||SNV|HGNC|HGNC:1097|YES|1||CCDS5863.1|ENSP00000288602|P15056||UPI000013DF26|NM_004333.4||deleterious(0)|probably_damaging(0.967)|Pfam_domain:PF07714&Pfam_domain:PF00069&SMART_domains:SM00220&SMART_domains:SM00219&PROSITE_profiles:PS50011&Superfamily_domains:SSF56112|||||||||||||||||||pathogenic|1|1|21499247|||||673|,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|BRAF|ENSG00000157764|Transcript|ENST00000497784|nonsense_mediated_decay|16/19||ENST00000497784.1:c.*1249T>A||1834/2336|-/585|-/194|||.|1||-1|cds_start_NF|SNV|HGNC|HGNC:1097||5|||ENSP00000420119||H7C5K3|UPI0001B79281||||||||||||||||||||||||pathogenic|1|1|21499247|||||673|,T|missense_variant|MODERATE|BRAF|ENSG00000157764|Transcript|ENST00000496384|protein_coding|6/10||ENST00000496384.5:c.622T>A|ENSP00000419060.1:p.Val208Glu|622/8294|623/1128|208/375|V/E|gTg/gAg|.|1||-1|cds_start_NF|SNV|HGNC|HGNC:1097||5|||ENSP00000419060||H7C560|UPI0001B7927F|||deleterious(0)|possibly_damaging(0.792)|Pfam_domain:PF07714&Pfam_domain:PF00069&PROSITE_profiles:PS50011&SMART_domains:SM00220&SMART_domains:SM00219&Superfamily_domains:SSF56112|||||||||||||||||||pathogenic|1|1|21499247|||||673| GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1 0/0:121,0:0.00:0:0:.:4114,0:54:67 0/1:30,37:0.538:15:22:0.595:1003,1309:14:16 chr7 143935732 . C A . PASS ECNT=1;HCNT=2;MAX_ED=.;MIN_ED=.;NLOD=53.78;TLOD=245.51;CSQ=A|missense_variant|MODERATE|OR2F2|ENSG00000221910|Transcript|ENST00000408955|protein_coding|1/1||ENST00000408955.2:c.500C>A|ENSP00000386222.2:p.Pro167His|567/1114|500/954|167/317|P/H|cCc/cAc||1||1||SNV|HGNC|HGNC:8247|YES|||CCDS43666.1|ENSP00000386222|O95006||UPI0000041C25|NM_001004685.1||deleterious(0)|possibly_damaging(0.81)|Pfam_domain:PF00001&PROSITE_profiles:PS50262&Superfamily_domains:SSF81321|||||||||||||||||||||||||||135948|,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00002090353|promoter_flanking_region|||||||||||1||||SNV||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1 0/0:179,0:0.00:0:0:.:5596,0:95:84 0/1:77,77:0.503:41:36:0.468:2595,2551:38:39 chr7 149178678 . T C . PASS ECNT=1;HCNT=1;MAX_ED=.;MIN_ED=.;NLOD=74.85;TLOD=218.89;CSQ=C|missense_variant|MODERATE|ZNF398|ENSG00000197024|Transcript|ENST00000475153|protein_coding|6/6||ENST00000475153.4:c.806T>C|ENSP00000420418.1:p.Leu269Pro|1073/2860|806/1929|269/642|L/P|cTt/cCt||1||1||SNV|HGNC|HGNC:18373|YES|1||CCDS5894.1|ENSP00000420418|Q8TD17|A0A090N7S8|UPI000000DA2F|NM_170686.2||tolerated(0.26)|possibly_damaging(0.779)||||||||||||||||||||||||||||57541|,C|missense_variant|MODERATE|ZNF398|ENSG00000197024|Transcript|ENST00000426851|protein_coding|7/7||ENST00000426851.5:c.293T>C|ENSP00000389972.2:p.Leu98Pro|1144/5268|293/1416|98/471|L/P|cTt/cCt||1||1||SNV|HGNC|HGNC:18373||1||CCDS47739.1|ENSP00000389972|Q8TD17|A0A090N8F2|UPI000002B73E|NM_020781.3||tolerated(0.1)|possibly_damaging(0.779)||||||||||||||||||||||||||||57541|,C|missense_variant|MODERATE|ZNF398|ENSG00000197024|Transcript|ENST00000491174|protein_coding|7/7||ENST00000491174.1:c.293T>C|ENSP00000419391.1:p.Leu98Pro|972/2232|293/1416|98/471|L/P|cTt/cCt||1||1||SNV|HGNC|HGNC:18373||2||CCDS47739.1|ENSP00000419391|Q8TD17|A0A090N8F2|UPI000002B73E|||tolerated(0.1)|possibly_damaging(0.779)||||||||||||||||||||||||||||57541|,C|missense_variant|MODERATE|ZNF398|ENSG00000197024|Transcript|ENST00000483892|protein_coding|6/6||ENST00000483892.4:c.293T>C|ENSP00000418564.1:p.Leu98Pro|916/2121|293/1416|98/471|L/P|cTt/cCt||1||1||SNV|HGNC|HGNC:18373||5||CCDS47739.1|ENSP00000418564|Q8TD17|A0A090N8F2|UPI000002B73E|||tolerated(0.1)|possibly_damaging(0.779)||||||||||||||||||||||||||||57541| GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1 0/0:254,0:0.00:0:0:.:9317,0:115:139 0/1:82,66:0.455:34:32:0.515:3021,2309:37:45 chr7 152649272 . T G . PASS ECNT=1;HCNT=1;MAX_ED=.;MIN_ED=.;NLOD=33.86;TLOD=110.91;CSQ=G|non_coding_transcript_exon_variant&non_coding_transcript_variant|MODIFIER|XRCC2|ENSG00000196584|Transcript|ENST00000495707|processed_transcript|3/3||ENST00000495707.1:n.235A>C||235/4728||||||1||-1||SNV|HGNC|HGNC:12829||1||||||||||||||||||||||||||||||||||||||7516|,G|missense_variant|MODERATE|XRCC2|ENSG00000196584|Transcript|ENST00000359321|protein_coding|3/3||ENST00000359321.1:c.213A>C|ENSP00000352271.1:p.Glu71Asp|299/3067|213/843|71/280|E/D|gaA/gaC||1||-1||SNV|HGNC|HGNC:12829|YES|1||CCDS5933.1|ENSP00000352271|O43543||UPI000000D9C8|NM_005431.1||tolerated(0.59)|benign(0.038)|Pfam_domain:PF08423&PROSITE_profiles:PS50162&Superfamily_domains:SSF52540|||||||||||||||||||||||||||7516| GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1 0/0:114,0:0.00:0:0:.:3947,0:44:70 0/1:60,40:0.409:19:21:0.475:2024,1282:24:36