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 C17orf102 0 genome.wustl.edu 37 17 32906191 32906191 + Missense_Mutation SNP C C T TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 17 32906191 32906191 C T SNP C17orf102 ENST00000357754 human ensembl 69_37n -1 known missense c.109 p.D37N 0.231 NULL NULL - no_errors C17orf102 HGNC ENSG00000197322 29 0 0.00 19 6 24.00 - - - C17orf102 0 genome.wustl.edu 37 17 32906192 32906192 + Silent SNP T T A TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 17 32906192 32906192 T A SNP C17orf102 ENST00000357754 human ensembl 69_37n -1 known silent c.108 p.V36 0.001 NULL NULL - no_errors C17orf102 HGNC ENSG00000197322 28 0 0.00 19 6 23.08 - - - CARD11 0 genome.wustl.edu 37 7 2987388 2987388 + Missense_Mutation SNP G G A TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 7 2987388 2987388 G A SNP CARD11 ENST00000396946 human ensembl 69_37n -1 known missense c.41 p.T14M 0.982 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 125 0 0.00 136 22 13.92 - - - CHRM4 0 genome.wustl.edu 37 11 46406905 46406905 + Silent SNP C C T TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 11 46406905 46406905 C T SNP CHRM4 ENST00000433765 human ensembl 69_37n -1 known silent c.1203 p.T401 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Musac_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 93 0 0.00 92 19 17.12 - - - CYGB 0 genome.wustl.edu 37 17 74527737 74527737 + Silent SNP G G A TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 17 74527737 74527737 G A SNP CYGB ENST00000293230 human ensembl 69_37n -1 known silent c.180 p.F60 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin - no_errors CYGB HGNC ENSG00000161544 68 0 0.00 115 23 16.67 - - - ENSG00000247570 0 genome.wustl.edu 37 8 70856514 70856514 + Splice_Site DEL T T - TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 8 70856514 70856514 T - DEL ENSG00000247570 ENST00000424643 human ensembl 69_37n +1 known splice_site_del c.NULL NULL 0.228 - - - no_coding_region:pseudogene RP11-449M6.1 Clone_based_vega_gene ENSG00000247570 12 0 0.00 34 5 12.20 - - - FAM117B 0 genome.wustl.edu 37 2 203591033 203591036 + Frame_Shift_Del DEL AAAG AAAG - TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 2 203591033 203591036 AAAG - DEL FAM117B ENST00000392238 human ensembl 69_37n +1 known frame_shift_del c.907_910 p.E304fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 85 0 0.00 117 13 10.00 - - - FAM53C 0 genome.wustl.edu 37 5 137681156 137681162 + Frame_Shift_Del DEL GGCGACC GGCGACC - TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 GGCGACC GGCGACC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 5 137681156 137681162 GGCGACC - DEL FAM53C ENST00000239906 human ensembl 69_37n +1 known frame_shift_del c.779_785 p.W260fs 1.000:1.000:1.000:1.000:1.000:1.000:0.793 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 39 0 0.00 48 11 18.64 - - - HELB 0 genome.wustl.edu 37 12 66717817 66717817 + Missense_Mutation SNP G G T TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 12 66717817 66717817 G T SNP HELB ENST00000247815 human ensembl 69_37n +1 known missense c.2352 p.R784S 0.991 NULL NULL - no_errors HELB HGNC ENSG00000127311 90 0 0.00 154 26 14.36 - - - ITPR3 0 genome.wustl.edu 37 6 33655053 33655053 + Silent SNP G G A TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 6 33655053 33655053 G A SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known silent c.6126 p.S2042 0.003 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 62 0 0.00 59 12 16.90 - - - MUC6 0 genome.wustl.edu 37 11 1019367 1019368 + Frame_Shift_Del DEL GC GC - TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 11 1019367 1019368 GC - DEL MUC6 ENST00000421673 human ensembl 69_37n -1 known frame_shift_del c.3938_3937 p.A1313fs 0.002:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 293 0 0.00 277 35 11.11 - - - PCNX 0 genome.wustl.edu 37 14 71543011 71543011 + Missense_Mutation SNP G G A TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 14 71543011 71543011 G A SNP PCNX ENST00000304743 human ensembl 69_37n +1 known missense c.5212 p.V1738M 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 88 0 0.00 88 17 16.19 - - - POLR3C 0 genome.wustl.edu 37 1 145608467 145608467 + Missense_Mutation SNP C C T TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 1 145608467 145608467 C T SNP POLR3C ENST00000334163 human ensembl 69_37n -1 known missense c.340 p.G114S 1.000 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 89 0 0.00 133 22 14.19 - - - SEMA3E 0 genome.wustl.edu 37 7 82997122 82997122 + Missense_Mutation SNP G G A TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 7 82997122 82997122 G A SNP SEMA3E ENST00000307792 human ensembl 69_37n -1 known missense c.2108 p.S703L 0.044 NULL pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3E HGNC ENSG00000170381 73 0 0.00 75 11 12.79 - - - SPATA18 0 genome.wustl.edu 37 4 52946023 52946023 + Missense_Mutation SNP G G C TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 4 52946023 52946023 G C SNP SPATA18 ENST00000295213 human ensembl 69_37n +1 known missense c.1293 p.Q431H 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 69 0 0.00 114 15 11.54 - - - ST18 0 genome.wustl.edu 37 8 53038615 53038615 + Missense_Mutation SNP C C T TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 8 53038615 53038615 C T SNP ST18 ENST00000276480 human ensembl 69_37n -1 known missense c.2752 p.G918R 0.993 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 92 0 0.00 172 36 17.31 - - - TFDP1 0 genome.wustl.edu 37 13 114292199 114292199 + Missense_Mutation SNP G G T TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 13 114292199 114292199 G T SNP TFDP1 ENST00000375370 human ensembl 69_37n +1 known missense c.1073 p.R358M 1.000 pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP1 HGNC ENSG00000198176 102 0 0.00 89 11 11.00 - - - TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 35 0 0.00 45 8 15.09 - - - VANGL2 0 genome.wustl.edu 37 1 160389104 160389104 + Missense_Mutation SNP C C T TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48115e9a-5027-455a-a88e-c3d991dbf966 c99e4cec-5fc3-4dc9-9c38-b72dbea39d3f 1 160389104 160389104 C T SNP VANGL2 ENST00000368061 human ensembl 69_37n +1 known missense c.505 p.R169C 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 78 0 0.00 93 19 16.96 - - -