##fileformat=VCFv4.2
##fileDate=00000000
##center="NCI Genomic Data Commons (GDC)"
##gdcWorkflow=<ID=somatic_mutation_calling_workflow,Name=mutect2,Description="MuTect2 Somatic Mutation Calling",Version=1.0>
##gdcWorkflow=<ID=somatic_annotation_workflow,Name=mutect2_annotation,Description="VEP Annotation",Version=1.0>
##INDIVIDUAL=<NAME=TCGA-00-0000,ID=00000000-0000-0000-0000-000000000000>
##SAMPLE=<ID=NORMAL,NAME=TCGA-00-0000-000-000-0000-00,ALIQUOT_ID=00000000-0000-0000-0000-000000000000,BAM_ID=00000000-0000-0000-0000-000000000000>
##SAMPLE=<ID=TUMOR,NAME=TCGA-00-0000-000-000-0000-00,ALIQUOT_ID=00000000-0000-0000-0000-000000000000,BAM_ID=00000000-0000-0000-0000-000000000000>
##FILTER=<ID=alt_allele_in_normal,Description="Evidence seen in the normal sample">
##FILTER=<ID=clustered_events,Description="Clustered events observed in the tumor">
##FILTER=<ID=germline_risk,Description="Evidence indicates this site is germline, not somatic">
##FILTER=<ID=homologous_mapping_event,Description="More than three events were observed in the tumor">
##FILTER=<ID=multi_event_alt_allele_in_normal,Description="Multiple events observed in tumor and normal">
##FILTER=<ID=panel_of_normals,Description="Seen in at least 2 samples in the panel of normals">
##FILTER=<ID=str_contraction,Description="Site filtered due to contraction of short tandem repeat region">
##FILTER=<ID=t_lod_fstar,Description="Tumor does not meet likelihood threshold">
##FILTER=<ID=triallelic_site,Description="Site filtered because more than two alt alleles pass tumor LOD">
##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
##FORMAT=<ID=AF,Number=1,Type=Float,Description="Allele fraction of the event in the tumor">
##FORMAT=<ID=ALT_F1R2,Number=1,Type=Integer,Description="Count of reads in F1R2 pair orientation supporting the alternate allele">
##FORMAT=<ID=ALT_F2R1,Number=1,Type=Integer,Description="Count of reads in F2R1 pair orientation supporting the alternate allele">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
##FORMAT=<ID=FOXOG,Number=1,Type=Float,Description="Fraction of alt reads indicating OxoG error">
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=PGT,Number=1,Type=String,Description="Physical phasing haplotype information, describing how the alternate alleles are phased in relation to one another">
##FORMAT=<ID=PID,Number=1,Type=String,Description="Physical phasing ID information, where each unique ID within a given sample (but not across samples) connects records within a phasing group">
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
##FORMAT=<ID=QSS,Number=A,Type=Integer,Description="Sum of base quality scores for each allele">
##FORMAT=<ID=REF_F1R2,Number=1,Type=Integer,Description="Count of reads in F1R2 pair orientation supporting the reference allele">
##FORMAT=<ID=REF_F2R1,Number=1,Type=Integer,Description="Count of reads in F2R1 pair orientation supporting the reference allele">
##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP Membership">
##INFO=<ID=ECNT,Number=1,Type=String,Description="Number of events in this haplotype">
##INFO=<ID=HCNT,Number=1,Type=String,Description="Number of haplotypes that support this variant">
##INFO=<ID=MAX_ED,Number=1,Type=Integer,Description="Maximum distance between events in this active region">
##INFO=<ID=MIN_ED,Number=1,Type=Integer,Description="Minimum distance between events in this active region">
##INFO=<ID=NLOD,Number=1,Type=String,Description="Normal LOD score">
##INFO=<ID=PON,Number=1,Type=String,Description="Count from Panel of Normals">
##INFO=<ID=RPA,Number=.,Type=Integer,Description="Number of times tandem repeat unit is repeated, for each allele (including reference)">
##INFO=<ID=RU,Number=1,Type=String,Description="Tandem repeat unit (bases)">
##INFO=<ID=STR,Number=0,Type=Flag,Description="Variant is a short tandem repeat">
##INFO=<ID=TLOD,Number=1,Type=String,Description="Tumor LOD score">
##reference=GRCh38.d1.vd1.fa
##contig=<ID=chr1,length=248956422,assembly=GRCh38.d1.vd1>
##contig=<ID=chr2,length=242193529,assembly=GRCh38.d1.vd1>
##contig=<ID=chr3,length=198295559,assembly=GRCh38.d1.vd1>
##contig=<ID=chr4,length=190214555,assembly=GRCh38.d1.vd1>
##contig=<ID=chr5,length=181538259,assembly=GRCh38.d1.vd1>
##contig=<ID=chr6,length=170805979,assembly=GRCh38.d1.vd1>
##contig=<ID=chr7,length=159345973,assembly=GRCh38.d1.vd1>
##contig=<ID=chr8,length=145138636,assembly=GRCh38.d1.vd1>
##contig=<ID=chr9,length=138394717,assembly=GRCh38.d1.vd1>
##contig=<ID=chr10,length=133797422,assembly=GRCh38.d1.vd1>
##contig=<ID=chr11,length=135086622,assembly=GRCh38.d1.vd1>
##contig=<ID=chr12,length=133275309,assembly=GRCh38.d1.vd1>
##contig=<ID=chr13,length=114364328,assembly=GRCh38.d1.vd1>
##contig=<ID=chr14,length=107043718,assembly=GRCh38.d1.vd1>
##contig=<ID=chr15,length=101991189,assembly=GRCh38.d1.vd1>
##contig=<ID=chr16,length=90338345,assembly=GRCh38.d1.vd1>
##contig=<ID=chr17,length=83257441,assembly=GRCh38.d1.vd1>
##contig=<ID=chr18,length=80373285,assembly=GRCh38.d1.vd1>
##contig=<ID=chr19,length=58617616,assembly=GRCh38.d1.vd1>
##contig=<ID=chr20,length=64444167,assembly=GRCh38.d1.vd1>
##contig=<ID=chr21,length=46709983,assembly=GRCh38.d1.vd1>
##contig=<ID=chr22,length=50818468,assembly=GRCh38.d1.vd1>
##contig=<ID=chrX,length=156040895,assembly=GRCh38.d1.vd1>
##contig=<ID=chrY,length=57227415,assembly=GRCh38.d1.vd1>
##contig=<ID=chrM,length=16569,assembly=GRCh38.d1.vd1>
##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=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|ALLELE_NUM|DISTANCE|STRAND|FLAGS|VARIANT_CLASS|SYMBOL_SOURCE|HGNC_ID|CANONICAL|TSL|APPRIS|CCDS|ENSP|SWISSPROT|TREMBL|UNIPARC|RefSeq|GENE_PHENO|SIFT|PolyPhen|DOMAINS|HGVS_OFFSET|GMAF|AFR_MAF|AMR_MAF|EAS_MAF|EUR_MAF|SAS_MAF|AA_MAF|EA_MAF|ExAC_MAF|ExAC_Adj_MAF|ExAC_AFR_MAF|ExAC_AMR_MAF|ExAC_EAS_MAF|ExAC_FIN_MAF|ExAC_NFE_MAF|ExAC_OTH_MAF|ExAC_SAS_MAF|CLIN_SIG|SOMATIC|PHENO|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|ENTREZ|EVIDENCE">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	NORMAL	TUMOR
chr15	43401738	.	T	C	.	PASS	ECNT=1;HCNT=24;MAX_ED=.;MIN_ED=.;NLOD=74.94;TLOD=25.27;CSQ=C|upstream_gene_variant|MODIFIER|TUBGCP4|ENSG00000137822|Transcript|ENST00000565548|protein_coding|||||-/762|-/318|-/105||||1|68|1|cds_start_NF|SNV|HGNC|HGNC:16691||5|||ENSP00000456550||H3BS59|UPI00024671B0||||||||||||||||||||||||||||||||27229|,C|missense_variant|MODERATE|TUBGCP4|ENSG00000137822|Transcript|ENST00000564079|protein_coding|15/18||ENST00000564079.4:c.1619T>C|ENSP00000456648.1:p.Phe540Ser|1859/6798|1619/2001|540/666|F/S|tTc/tCc||1||1||SNV|HGNC|HGNC:16691||1||CCDS42030.1|ENSP00000456648|Q9UGJ1|||NM_014444.3||deleterious(0.01)|probably_damaging(0.947)|Pfam_domain:PF04130|||||||||||||||||||||||||||27229|,C|downstream_gene_variant|MODIFIER|TP53BP1|ENSG00000067369|Transcript|ENST00000382044|protein_coding|||||-/10384|-/5934|-/1977||||1|1323|-1||SNV|HGNC|HGNC:11999|YES|1||CCDS45250.1|ENSP00000371475|Q12888||UPI0000D720ED|NM_001141980.1|||||||||||||||||||||||||||||||7158|,C|missense_variant|MODERATE|TUBGCP4|ENSG00000137822|Transcript|ENST00000260383|protein_coding|15/18||ENST00000260383.10:c.1622T>C|ENSP00000260383.7:p.Phe541Ser|1876/2617|1622/2004|541/667|F/S|tTc/tCc||1||1||SNV|HGNC|HGNC:16691|YES|1||CCDS66745.1|ENSP00000260383|Q9UGJ1||UPI000012B2EC|NM_001286414.1||deleterious(0.01)|probably_damaging(0.993)|Pfam_domain:PF04130|||||||||||||||||||||||||||27229|,C|upstream_gene_variant|MODIFIER|TUBGCP4|ENSG00000137822|Transcript|ENST00000566251|nonsense_mediated_decay|||||-/460|-/201|-/66||||1|80|1|cds_start_NF|SNV|HGNC|HGNC:16691||3|||ENSP00000455555||H3BQ12|UPI00024671B1||||||||||||||||||||||||||||||||27229|,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|TUBGCP4|ENSG00000137822|Transcript|ENST00000561691|nonsense_mediated_decay|14/17||ENST00000561691.4:c.*248T>C||1441/1928|-/1194|-/397||||1||1|cds_start_NF|SNV|HGNC|HGNC:16691||1|||ENSP00000455474||H3BPU4|||||||||||||||||||||||||||||||||27229|,C|missense_variant|MODERATE|TUBGCP4|ENSG00000137822|Transcript|ENST00000563147|protein_coding|3/5||ENST00000563147.4:c.251T>C|ENSP00000454915.1:p.Phe84Ser|251/846|251/516|84/171|F/S|tTc/tCc||1||1|cds_start_NF|SNV|HGNC|HGNC:16691||5|||ENSP00000454915||H3BNL9|UPI00024671AF|||deleterious(0.01)|probably_damaging(0.931)|Pfam_domain:PF04130|||||||||||||||||||||||||||27229|,C|downstream_gene_variant|MODIFIER|TUBGCP4|ENSG00000137822|Transcript|ENST00000562053|retained_intron|||||-/455||||||1|3355|1||SNV|HGNC|HGNC:16691||2||||||||||||||||||||||||||||||||||||||27229|,C|non_coding_transcript_exon_variant&non_coding_transcript_variant|MODIFIER|TUBGCP4|ENSG00000137822|Transcript|ENST00000563963|retained_intron|5/7||ENST00000563963.1:n.2056T>C||2056/4379||||||1||1||SNV|HGNC|HGNC:16691||2||||||||||||||||||||||||||||||||||||||27229|	GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1	0/0:253,1:0.00:0:1:0.00:8445,2:143:110	0/1:278,22:0.056:7:15:0.318:9166,563:143:135
chr16	32253489	.	G	A	.	PASS	ECNT=1;HCNT=1;MAX_ED=.;MIN_ED=.;NLOD=3.91;TLOD=21.79;CSQ=A|missense_variant|MODERATE|TP53TG3D|ENSG00000205456|Transcript|ENST00000398664|protein_coding|1/2||ENST00000398664.4:c.136G>A|ENSP00000455596.1:p.Ala46Thr|771/2029|136/375|46/124|A/T|Gcc/Acc||1||1||SNV|HGNC|HGNC:44657|YES|1||CCDS58456.1|ENSP00000455596|Q9ULZ0||UPI000006D8DD|NM_001243722.1||tolerated_low_confidence(0.4)|possibly_damaging(0.695)||||||||||||||||||||||||||||729264|,A|missense_variant|MODERATE|TP53TG3D|ENSG00000205456|Transcript|ENST00000569631|protein_coding|1/2||ENST00000569631.1:c.136G>A|ENSP00000457079.1:p.Ala46Thr|166/1112|136/309|46/102|A/T|Gcc/Acc||1||1||SNV|HGNC|HGNC:44657||5|||ENSP00000457079||H3BT92|UPI0000DD833A|||tolerated_low_confidence(0.57)|possibly_damaging(0.695)||||||||||||||||||||||||||||729264|,A|missense_variant&NMD_transcript_variant|MODERATE|TP53TG3D|ENSG00000205456|Transcript|ENST00000380148|nonsense_mediated_decay|1/4||ENST00000380148.5:c.136G>A|ENSP00000454398.1:p.Ala46Thr|168/1880|136/399|46/132|A/T|Gcc/Acc||1||1||SNV|HGNC|HGNC:44657||1|||ENSP00000454398|Q9ULZ0||UPI000006F0E1|||tolerated_low_confidence(0.5)|possibly_damaging(0.695)||||||||||||||||||||||||||||729264|,A|upstream_gene_variant|MODIFIER|TP53TG3D|ENSG00000205456|Transcript|ENST00000568044|nonsense_mediated_decay|||||-/896|-/24|-/7||||1|347|1|cds_start_NF|SNV|HGNC|HGNC:44657||3|||ENSP00000458552|||UPI00025A3005||||||||||||||||||||||||||||||||729264|,A|upstream_gene_variant|MODIFIER|TP53TG3D|ENSG00000205456|Transcript|ENST00000564810|processed_transcript|||||-/661||||||1|563|1||SNV|HGNC|HGNC:44657||5||||||||||||||||||||||||||||||||||||||729264|,A|upstream_gene_variant|MODIFIER|TP53TG3D|ENSG00000205456|Transcript|ENST00000567978|retained_intron|||||-/647||||||1|723|1||SNV|HGNC|HGNC:44657||2||||||||||||||||||||||||||||||||||||||729264|,A|missense_variant&NMD_transcript_variant|MODERATE|TP53TG3D|ENSG00000205456|Transcript|ENST00000563025|nonsense_mediated_decay|1/3||ENST00000563025.1:c.136G>A|ENSP00000458008.1:p.Ala46Thr|146/583|136/309|46/102|A/T|Gcc/Acc||1||1||SNV|HGNC|HGNC:44657||4|||ENSP00000458008||H3BT92|UPI0000DD833A|||tolerated_low_confidence(0.57)|possibly_damaging(0.695)||||||||||||||||||||||||||||729264|,A|intron_variant&non_coding_transcript_variant|MODIFIER|RP11-56L13.7|ENSG00000260575|Transcript|ENST00000562604|antisense||1/1|ENST00000562604.1:n.70+864C>T||-/262||||||1||-1||SNV|Clone_based_vega_gene||YES|5|||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001504796|CTCF_binding_site|||||||||||1||||SNV|||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001876230|promoter|||||||||||1||||SNV|||||||||||||||||||||||||||||||||||||||||||	GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1	0/0:32,0:0.00:0:0:.:733,0:18:14	0/1:6,11:0.647:5:6:0.455:130,309:2:4
chr17	7674218	.	T	C	.	clustered_events	ECNT=2;HCNT=2;MAX_ED=3;MIN_ED=3;NLOD=12.66;TLOD=47.58;CSQ=C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000617185|protein_coding|7/12||ENST00000617185.3:c.745A>G|ENSP00000482258.1:p.Arg249Gly|947/2724|745/1026|249/341|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS45606.1|ENSP00000482258|P04637||UPI0000456A12|NM_001126114.2||deleterious(0)|probably_damaging(0.984)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000615910|protein_coding|7/11||ENST00000615910.3:c.712A>G|ENSP00000482903.1:p.Arg238Gly|712/1149|712/1149|238/382|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||5|||ENSP00000482903||A0A087WZU8|UPI0004E4CBB8|||deleterious(0)|probably_damaging(0.992)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000413465|protein_coding|6/7||ENST00000413465.5:c.745A>G|ENSP00000410739.2:p.Arg249Gly|745/1018|745/858|249/285|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1|||ENSP00000410739||E7EQX7|UPI0001AE664F|||deleterious(0)|probably_damaging(0.995)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000622645|protein_coding|7/12||ENST00000622645.3:c.628A>G|ENSP00000482222.1:p.Arg210Gly|878/2653|628/909|210/302|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73971.1|ENSP00000482222|P04637|||NM_001276696.1||deleterious(0)|probably_damaging(0.984)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000509690|protein_coding|4/6||ENST00000509690.4:c.349A>G|ENSP00000425104.1:p.Arg117Gly|481/729|349/597|117/199|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1|cds_end_NF|SNV|HGNC|HGNC:11998||4|||ENSP00000425104||E7ESS1|UPI0001D3B064|||deleterious(0)|probably_damaging(0.991)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000604348|protein_coding|||||-/568|-/429|-/143|||TP53_g.13382A>G|1|944|-1|cds_end_NF|SNV|HGNC|HGNC:11998||4|||ENSP00000473895||S4R334|UPI00033351E6||||||||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000359597|protein_coding|6/9||ENST00000359597.7:c.745A>G|ENSP00000352610.4:p.Arg249Gly|745/1152|745/1032|249/343|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1|||ENSP00000352610||J3KP33|UPI0002065363|||deleterious(0)|probably_damaging(0.984)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000420246|protein_coding|7/12||ENST00000420246.5:c.745A>G|ENSP00000391127.2:p.Arg249Gly|878/2653|745/1026|249/341|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS45606.1|ENSP00000391127|P04637||UPI0000456A12|||deleterious(0)|probably_damaging(0.984)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000610292|protein_coding|6/10||ENST00000610292.3:c.628A>G|ENSP00000478219.1:p.Arg210Gly|995/2639|628/1065|210/354|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73969.1|ENSP00000478219|P04637|H2EHT1|UPI000040A8D3|NM_001126118.1||deleterious(0)|probably_damaging(0.991)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000619186|protein_coding|3/7||ENST00000619186.3:c.268A>G|ENSP00000484375.1:p.Arg90Gly|627/2271|268/705|90/234|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73963.1|ENSP00000484375||A0A087X1Q1|UPI0002B83577|NM_001276697.1||deleterious(0)|probably_damaging(0.991)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000504290|protein_coding|3/8||ENST00000504290.4:c.349A>G|ENSP00000484409.1:p.Arg117Gly|627/2331|349/645|117/214|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73967.1|ENSP00000484409|P04637|||NM_001126117.1||deleterious(0)|probably_damaging(0.989)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|incomplete_terminal_codon_variant&coding_sequence_variant|LOW|TP53|ENSG00000141510|Transcript|ENST00000514944|protein_coding|6/6||ENST00000514944.4:c.466A>G|ENST00000514944.4:c.466A>G(p.%3D)|545/546|466/467|156/155|X|Ag/Gg|TP53_g.13382A>G|1||-1|cds_end_NF|SNV|HGNC|HGNC:11998||1|||ENSP00000423862||E9PFT5|UPI00015DFAB7||||||||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000510385|protein_coding|3/8||ENST00000510385.4:c.349A>G|ENSP00000478499.1:p.Arg117Gly|627/2404|349/630|117/209|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73968.1|ENSP00000478499|P04637||UPI00005B7311|NM_001126116.1||deleterious(0)|probably_damaging(0.984)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|upstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000576024|protein_coding|||||-/175|-/96|-/31|||TP53_g.13382A>G|1|631|-1|cds_start_NF|SNV|HGNC|HGNC:11998||1|||ENSP00000458393||I3L0W9|UPI00025A2CF1||||||||||||||||||||||||||||||||7157|,C|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000503591|protein_coding|||||-/565|-/383|-/127|||TP53_g.13382A>G|1|1011|-1|cds_end_NF|SNV|HGNC|HGNC:11998||5|||ENSP00000426252||E9PCY9|UPI0001D3B066||||||||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000445888|protein_coding|7/11||ENST00000445888.5:c.745A>G|ENSP00000391478.2:p.Arg249Gly|881/2506|745/1182|249/393|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS11118.1|ENSP00000391478|P04637|K7PPA8||||deleterious(0)|probably_damaging(0.991)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000620739|protein_coding|7/11||ENST00000620739.3:c.628A>G|ENSP00000481638.1:p.Arg210Gly|935/2579|628/1065|210/354|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73969.1|ENSP00000481638|P04637|H2EHT1|UPI000040A8D3|NM_001276761.1&NM_001276760.1||deleterious(0)|probably_damaging(0.991)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000610538|protein_coding|7/12||ENST00000610538.3:c.628A>G|ENSP00000480868.1:p.Arg210Gly|878/2580|628/924|210/307|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73970.1|ENSP00000480868|P04637||UPI0001FDB80C|NM_001276695.1||deleterious(0)|probably_damaging(0.989)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000455263|protein_coding|7/12||ENST00000455263.5:c.745A>G|ENSP00000398846.2:p.Arg249Gly|878/2580|745/1041|249/346|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS45605.1|ENSP00000398846|P04637||UPI00005B7310|NM_001126113.2||deleterious(0)|probably_damaging(0.989)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000508793|protein_coding|||||-/634|-/496|-/165|||TP53_g.13382A>G|1|898|-1|cds_end_NF|SNV|HGNC|HGNC:11998||4|||ENSP00000424104||E7EMR6|UPI0001D3B065||||||||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000504937|protein_coding|3/7||ENST00000504937.4:c.349A>G|ENSP00000481179.1:p.Arg117Gly|627/2271|349/786|117/261|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73966.1|ENSP00000481179|P04637|||NM_001126115.1||deleterious(0)|probably_damaging(0.991)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000269305|protein_coding|7/11||ENST00000269305.7:c.745A>G|ENSP00000269305.4:p.Arg249Gly|935/2579|745/1182|249/393|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998|YES|1||CCDS11118.1|ENSP00000269305|P04637|K7PPA8||NM_000546.5&NM_001126112.2||deleterious(0)|probably_damaging(0.991)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000619485|protein_coding|7/11||ENST00000619485.3:c.628A>G|ENSP00000482537.1:p.Arg210Gly|881/2506|628/1065|210/354|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73969.1|ENSP00000482537|P04637|H2EHT1|UPI000040A8D3|||deleterious(0)|probably_damaging(0.991)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000574684|processed_transcript|||||-/104|||||TP53_g.13382A>G|1|36|-1||SNV|HGNC|HGNC:11998||1||||||||||||||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000618944|protein_coding|3/8||ENST00000618944.3:c.268A>G|ENSP00000481401.1:p.Arg90Gly|627/2404|268/549|90/182|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73965.1|ENSP00000481401||A0A087WXZ1|UPI0002B83575|NM_001276698.1||deleterious(0)|probably_damaging(0.984)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|,C|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000505014|retained_intron|||||-/1261|||||TP53_g.13382A>G|1|308|-1||SNV|HGNC|HGNC:11998||2||||||||||||||||||||||||||||||||||||||7157|,C|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000610623|protein_coding|3/8||ENST00000610623.3:c.268A>G|ENSP00000477531.1:p.Arg90Gly|627/2331|268/564|90/187|R/G|Agg/Ggg|TP53_g.13382A>G|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73964.1|ENSP00000477531||A0A087WT22|UPI0002B83573|NM_001276699.1||deleterious(0)|probably_damaging(0.989)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417|||||||||||||||||||||||||||7157|	GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1	0/0:43,0:0.00:0:0:.:1297,0:25:18	0/1:44,20:0.297:7:13:0.350:1556,578:22:22
chr17	7674221	.	G	A	.	clustered_events;panel_of_normals	DB;ECNT=2;HCNT=2;MAX_ED=3;MIN_ED=3;NLOD=12.91;TLOD=73.03;CSQ=A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000514944|protein_coding|6/6||ENST00000514944.4:c.463C>T|ENSP00000423862.1:p.Arg155Trp|542/546|463/467|155/155|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1|cds_end_NF|SNV|HGNC|HGNC:11998||1|||ENSP00000423862||E9PFT5|UPI00015DFAB7|||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000510385|protein_coding|3/8||ENST00000510385.4:c.346C>T|ENSP00000478499.1:p.Arg116Trp|624/2404|346/630|116/209|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73968.1|ENSP00000478499|P04637||UPI00005B7311|NM_001126116.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000503591|protein_coding|||||-/565|-/383|-/127|||.&TP53_g.13379C>T|1|1008|-1|cds_end_NF|SNV|HGNC|HGNC:11998||5|||ENSP00000426252||E9PCY9|UPI0001D3B066|||||||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000620739|protein_coding|7/11||ENST00000620739.3:c.625C>T|ENSP00000481638.1:p.Arg209Trp|932/2579|625/1065|209/354|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73969.1|ENSP00000481638|P04637|H2EHT1|UPI000040A8D3|NM_001276761.1&NM_001276760.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|upstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000576024|protein_coding|||||-/175|-/96|-/31|||.&TP53_g.13379C>T|1|634|-1|cds_start_NF|SNV|HGNC|HGNC:11998||1|||ENSP00000458393||I3L0W9|UPI00025A2CF1|||||||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000445888|protein_coding|7/11||ENST00000445888.5:c.742C>T|ENSP00000391478.2:p.Arg248Trp|878/2506|742/1182|248/393|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS11118.1|ENSP00000391478|P04637|K7PPA8||||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000455263|protein_coding|7/12||ENST00000455263.5:c.742C>T|ENSP00000398846.2:p.Arg248Trp|875/2580|742/1041|248/346|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS45605.1|ENSP00000398846|P04637||UPI00005B7310|NM_001126113.2||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000610538|protein_coding|7/12||ENST00000610538.3:c.625C>T|ENSP00000480868.1:p.Arg209Trp|875/2580|625/924|209/307|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73970.1|ENSP00000480868|P04637||UPI0001FDB80C|NM_001276695.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000508793|protein_coding|||||-/634|-/496|-/165|||.&TP53_g.13379C>T|1|895|-1|cds_end_NF|SNV|HGNC|HGNC:11998||4|||ENSP00000424104||E7EMR6|UPI0001D3B065|||||||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000504937|protein_coding|3/7||ENST00000504937.4:c.346C>T|ENSP00000481179.1:p.Arg116Trp|624/2271|346/786|116/261|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73966.1|ENSP00000481179|P04637|||NM_001126115.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000269305|protein_coding|7/11||ENST00000269305.7:c.742C>T|ENSP00000269305.4:p.Arg248Trp|932/2579|742/1182|248/393|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998|YES|1||CCDS11118.1|ENSP00000269305|P04637|K7PPA8||NM_000546.5&NM_001126112.2||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000619485|protein_coding|7/11||ENST00000619485.3:c.625C>T|ENSP00000482537.1:p.Arg209Trp|878/2506|625/1065|209/354|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73969.1|ENSP00000482537|P04637|H2EHT1|UPI000040A8D3|||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000574684|processed_transcript|||||-/104|||||.&TP53_g.13379C>T|1|33|-1||SNV|HGNC|HGNC:11998||1|||||||||||||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000505014|retained_intron|||||-/1261|||||.&TP53_g.13379C>T|1|305|-1||SNV|HGNC|HGNC:11998||2|||||||||||||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000618944|protein_coding|3/8||ENST00000618944.3:c.265C>T|ENSP00000481401.1:p.Arg89Trp|624/2404|265/549|89/182|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73965.1|ENSP00000481401||A0A087WXZ1|UPI0002B83575|NM_001276698.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000610623|protein_coding|3/8||ENST00000610623.3:c.265C>T|ENSP00000477531.1:p.Arg89Trp|624/2331|265/564|89/187|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73964.1|ENSP00000477531||A0A087WT22|UPI0002B83573|NM_001276699.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000617185|protein_coding|7/12||ENST00000617185.3:c.742C>T|ENSP00000482258.1:p.Arg248Trp|944/2724|742/1026|248/341|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS45606.1|ENSP00000482258|P04637||UPI0000456A12|NM_001126114.2||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000615910|protein_coding|7/11||ENST00000615910.3:c.709C>T|ENSP00000482903.1:p.Arg237Trp|709/1149|709/1149|237/382|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||5|||ENSP00000482903||A0A087WZU8|UPI0004E4CBB8|||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000413465|protein_coding|6/7||ENST00000413465.5:c.742C>T|ENSP00000410739.2:p.Arg248Trp|742/1018|742/858|248/285|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1|||ENSP00000410739||E7EQX7|UPI0001AE664F|||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000622645|protein_coding|7/12||ENST00000622645.3:c.625C>T|ENSP00000482222.1:p.Arg209Trp|875/2653|625/909|209/302|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73971.1|ENSP00000482222|P04637|||NM_001276696.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000509690|protein_coding|4/6||ENST00000509690.4:c.346C>T|ENSP00000425104.1:p.Arg116Trp|478/729|346/597|116/199|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1|cds_end_NF|SNV|HGNC|HGNC:11998||4|||ENSP00000425104||E7ESS1|UPI0001D3B064|||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|downstream_gene_variant|MODIFIER|TP53|ENSG00000141510|Transcript|ENST00000604348|protein_coding|||||-/568|-/429|-/143|||.&TP53_g.13379C>T|1|941|-1|cds_end_NF|SNV|HGNC|HGNC:11998||4|||ENSP00000473895||S4R334|UPI00033351E6|||||||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000359597|protein_coding|6/9||ENST00000359597.7:c.742C>T|ENSP00000352610.4:p.Arg248Trp|742/1152|742/1032|248/343|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1|||ENSP00000352610||J3KP33|UPI0002065363|||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000420246|protein_coding|7/12||ENST00000420246.5:c.742C>T|ENSP00000391127.2:p.Arg248Trp|875/2653|742/1026|248/341|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS45606.1|ENSP00000391127|P04637||UPI0000456A12|||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000610292|protein_coding|6/10||ENST00000610292.3:c.625C>T|ENSP00000478219.1:p.Arg209Trp|992/2639|625/1065|209/354|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73969.1|ENSP00000478219|P04637|H2EHT1|UPI000040A8D3|NM_001126118.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000619186|protein_coding|3/7||ENST00000619186.3:c.265C>T|ENSP00000484375.1:p.Arg89Trp|624/2271|265/705|89/234|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73963.1|ENSP00000484375||A0A087X1Q1|UPI0002B83577|NM_001276697.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC,A|missense_variant|MODERATE|TP53|ENSG00000141510|Transcript|ENST00000504290|protein_coding|3/8||ENST00000504290.4:c.346C>T|ENSP00000484409.1:p.Arg116Trp|624/2331|346/645|116/214|R/W|Cgg/Tgg|.&TP53_g.13379C>T|1||-1||SNV|HGNC|HGNC:11998||1||CCDS73967.1|ENSP00000484409|P04637|||NM_001126117.1||deleterious(0)|probably_damaging(1)|Pfam_domain:PF00870&Prints_domain:PR00386&Superfamily_domains:SSF49417||||||||||A:8.236e-06&A:8.236e-06|A:8.24e-06&A:8.24e-06|A:0&A:0|A:0&A:0|A:0&A:0|A:0&A:0|A:1.498e-05&A:1.498e-05|A:0&A:0|A:0&A:0|pathogenic||1&0||||||7157|E_Multiple_observations&E_Phenotype_or_Disease&E_ExAC	GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1	0/0:44,0:0.00:0:0:.:1186,0:24:20	0/1:43,23:0.348:12:11:0.522:1306,802:17:26
chr20	34715353	.	G	A	.	PASS	DB;ECNT=1;HCNT=1;MAX_ED=.;MIN_ED=.;NLOD=27.49;TLOD=27.69;CSQ=A|upstream_gene_variant|MODIFIER|NCOA6|ENSG00000198646|Transcript|ENST00000593786|processed_transcript|||||-/827|||||.|1|197|-1||SNV|HGNC|HGNC:15936||5|||||||||||||||||||A:0.0002|A:0||||||||||||||||||23054|E_ESP,A|downstream_gene_variant|MODIFIER|TP53INP2|ENSG00000078804|Transcript|ENST00000374809|protein_coding|||||-/4018|-/663|-/220|||.|1|1914|1||SNV|HGNC|HGNC:16104||5||CCDS13240.1|ENSP00000363942|Q8IXH6|||||||||||||||A:0.0002|A:0||||||||||||||||||58476|E_ESP,A|downstream_gene_variant|MODIFIER|TP53INP2|ENSG00000078804|Transcript|ENST00000374810|protein_coding|||||-/4184|-/663|-/220|||.|1|1914|1||SNV|HGNC|HGNC:16104|YES|1||CCDS13240.1|ENSP00000363943|Q8IXH6|||NM_021202.1||||||||||||A:0.0002|A:0||||||||||||||||||58476|E_ESP,A|missense_variant|MODERATE|NCOA6|ENSG00000198646|Transcript|ENST00000374796|protein_coding|16/16||ENST00000374796.5:c.6161C>T|ENSP00000363929.2:p.Ala2054Val|8732/9311|6161/6192|2054/2063|A/V|gCg/gTg|.|1||-1||SNV|HGNC|HGNC:15936|YES|1||CCDS13241.1|ENSP00000363929|Q14686||UPI000013C634||||benign(0.002)|||||||||A:0.0002|A:0||||||||||||||||||23054|E_ESP,A|missense_variant|MODERATE|NCOA6|ENSG00000198646|Transcript|ENST00000359003|protein_coding|15/15||ENST00000359003.5:c.6161C>T|ENSP00000351894.2:p.Ala2054Val|6502/7081|6161/6192|2054/2063|A/V|gCg/gTg|.|1||-1||SNV|HGNC|HGNC:15936||1||CCDS13241.1|ENSP00000351894|Q14686||UPI000013C634|NM_014071.3|||benign(0.002)|||||||||A:0.0002|A:0||||||||||||||||||23054|E_ESP,A|intron_variant|MODIFIER|NCOA6|ENSG00000198646|Transcript|ENST00000628752|protein_coding||5/5|ENST00000628752.1:c.557+11906C>T||-/660|-/662|-/220|||.|1||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:15936|||||ENSP00000486894|||UPI0005C121C5|||||||||||||A:0.0002|A:0||||||||||||||||||23054|E_ESP,A|missense_variant|MODERATE|NCOA6|ENSG00000198646|Transcript|ENST00000612493|protein_coding|14/14||ENST00000612493.3:c.3182C>T|ENSP00000481177.1:p.Ala1061Val|3504/4082|3182/3213|1061/1070|A/V|gCg/gTg|.|1||-1||SNV|HGNC|HGNC:15936||5||CCDS74720.1|ENSP00000481177||F6M2K2|UPI000040F249|NM_001242539.1||tolerated_low_confidence(0.19)|possibly_damaging(0.464)|||||||||A:0.0002|A:0||||||||||||||||||23054|E_ESP,A|non_coding_transcript_exon_variant&non_coding_transcript_variant|MODIFIER|NCOA6|ENSG00000198646|Transcript|ENST00000471897|retained_intron|3/3||ENST00000471897.1:n.572C>T||572/858|||||.|1||-1||SNV|HGNC|HGNC:15936||2|||||||||||||||||||A:0.0002|A:0||||||||||||||||||23054|E_ESP,A|upstream_gene_variant|MODIFIER|NCOA6|ENSG00000198646|Transcript|ENST00000434040|processed_transcript|||||-/519|||||.|1|725|-1||SNV|HGNC|HGNC:15936||3|||||||||||||||||||A:0.0002|A:0||||||||||||||||||23054|E_ESP,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001956516|enhancer||||||||||.|1||||SNV|||||||||||||||||||||||A:0.0002|A:0|||||||||||||||||||E_ESP	GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1	0/0:92,0:0.00:0:0:.:2752,0:38:54	0/1:43,14:0.232:8:6:0.571:1301,371:21:22