Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All CROCCP2 0 genome.wustl.edu 37 1 16950889 16950889 + RNA SNP G G A TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 1 16950889 16950889 G A SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.470 - - - no_errors CROCCP2 HGNC ENSG00000215908 15 0 0.00 17 8 32.00 - - - CYHR1 0 genome.wustl.edu 37 8 145675924 145675924 + Missense_Mutation SNP G G C TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 8 145675924 145675924 G C SNP CYHR1 ENST00000438911 human ensembl 69_37n -1 known missense c.927 p.D309E 0.236 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors CYHR1 HGNC ENSG00000187954 44 0 0.00 76 18 19.15 - - - FREM3 0 genome.wustl.edu 37 4 144614306 144614306 + Silent SNP G G A TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 4 144614306 144614306 G A SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative silent c.5235 p.N1745 0.948 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 86 0 0.00 85 17 16.67 - - - HIST1H2AK 0 genome.wustl.edu 37 6 27806084 27806084 + Missense_Mutation SNP G G C TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 6 27806084 27806084 G C SNP HIST1H2AK ENST00000330180 human ensembl 69_37n -1 known missense c.34 p.R12G 0.989 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 30 0 0.00 29 12 29.27 - - - IGFN1 0 genome.wustl.edu 37 1 201182360 201182360 + Missense_Mutation SNP C C A TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 1 201182360 201182360 C A SNP IGFN1 ENST00000335211 human ensembl 69_37n +1 known missense c.8339 p.S2780Y 0.003 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 41 0 0.00 49 6 10.91 - - - KIAA0317 0 genome.wustl.edu 37 14 75136706 75136706 + Missense_Mutation SNP C C A TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 14 75136706 75136706 C A SNP KIAA0317 ENST00000356357 human ensembl 69_37n -1 known missense c.1732 p.A578S 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC ENSG00000119682 46 0 0.00 30 4 11.76 - - - MRPS31 0 genome.wustl.edu 37 13 41333214 41333214 + Missense_Mutation SNP C C G TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 13 41333214 41333214 C G SNP MRPS31 ENST00000323563 human ensembl 69_37n -1 known missense c.469 p.A157P 0.999 NULL NULL - no_errors MRPS31 HGNC ENSG00000102738 58 0 0.00 63 7 10.00 - - - NARG2 0 genome.wustl.edu 37 15 60720860 60720860 + Missense_Mutation SNP G G C TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 15 60720860 60720860 G C SNP NARG2 ENST00000261520 human ensembl 69_37n -1 known missense c.2588 p.S863C 1.000 pfam_NARG2_C pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 33 0 0.00 15 6 28.57 - - - OTOF 0 genome.wustl.edu 37 2 26698897 26698897 + Missense_Mutation SNP G G A TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 2 26698897 26698897 G A SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.2876 p.A959V 0.911 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 41 0 0.00 37 7 15.91 - - - PPT1 0 genome.wustl.edu 37 1 40544493 40544493 + RNA DEL T T - TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 1 40544493 40544493 T - DEL PPT1 ENST00000372775 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors PPT1 HGNC ENSG00000131238 15 0 0.00 4 3 42.86 - - - PTCD1 0 genome.wustl.edu 37 7 99021452 99021452 + Silent SNP T T C TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 7 99021452 99021452 T C SNP PTCD1 ENST00000555673 human ensembl 69_37n -1 known silent c.2013 p.E671 0.991 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors PTCD1 HGNC ENSG00000106246 63 0 0.00 70 19 21.35 - - - RPL6 0 genome.wustl.edu 37 12 112846113 112846113 + Silent SNP G G C TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 12 112846113 112846113 G C SNP RPL6 ENST00000202773 human ensembl 69_37n -1 known silent c.267 p.L89 0.291 pfam_Ribosomal_L6_N pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC ENSG00000089009 73 0 0.00 66 21 23.60 - - - SYNPR 0 genome.wustl.edu 37 3 63466619 63466619 + Missense_Mutation SNP G G C TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 3 63466619 63466619 G C SNP SYNPR ENST00000478300 human ensembl 69_37n +1 known missense c.196 p.A66P 1.000 pfam_MARVEL-like_dom,prints_Synaptophysin/porin pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYNPR HGNC ENSG00000163630 62 0 0.00 50 17 25.37 - - - TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 69_37n +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 28 0 0.00 26 4 13.33 - - - USH2A 0 genome.wustl.edu 37 1 215932045 215932045 + Missense_Mutation SNP C C T TCGA-E2-A1LI-01A-12D-A159-09 TCGA-E2-A1LI-11A-23D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c812374c-8bc9-4ccf-9157-fbd9d162ee1e 21e814d9-cef6-4f92-8ace-592086fc309f 1 215932045 215932045 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.11281 p.D3761N 0.978 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 95 0 0.00 132 65 32.99 - - -