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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error NormalRefReads_WU NormalVarReads_WU NormalVAF_WU TumorRefReads_WU TumorVarReads_WU TumorVAF_WU RNARefReads_WU RNAVarReads_WU RNAVAF_WU MT-CO2 0 genome.wustl.edu 36 MT 7622 7622 + Silent SNP T T C TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae MT 7622 7622 T C SNP MT-CO2 ENST00000361739 human ensembl 54_36p +1 known silent c.36 p.A12 NULL HMMPfam_COX2_TM,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^II-like^^_^^transmembrane^^_^^region PatternScan_COX2,HMMPfam_COX2,superfamily_Cupredoxins,HMMPfam_COX2_TM,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^II-like^^_^^transmembrane^^_^^region - no_errors 2128 3 0.14 3464 518 12.90 NA NA NA ZBTB33 0 genome.wustl.edu 36 X 119271326 119271326 + Missense_Mutation SNP A A C TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae X 119271326 119271326 A C SNP ZBTB33 NM_006777.3 human genbank 54_36p +1 validated missense c.28 p.T10P 1.000 superfamily_POZ domain HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 122 2 1.61 47 63 57.27 1 19 95.00 GJB3 0 genome.wustl.edu 36 1 35023379 35023379 + Missense_Mutation SNP C C G TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 1 35023379 35023379 C G SNP GJB3 NM_001005752.1 human genbank 54_36p +1 reviewed missense c.429 p.F143L 0.072 HMMPfam_Connexin_CCC HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC - no_errors 264 2 0.75 396 148 26.81 0 1 100.00 CAMKV 0 genome.wustl.edu 36 3 49871771 49871771 + Missense_Mutation SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 3 49871771 49871771 C T SNP CAMKV NM_024046.3 human genbank 54_36p -1 validated missense c.1490 p.R497K 0.693 NULL HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase - no_errors 82 0 0.00 137 58 29.29 NA NA NA LOC441013 0 genome.wustl.edu 36 4 43107115 43107115 + RNA SNP G G A TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 4 43107115 43107115 G A SNP LOC441013 XR_016299.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 113 1 0.88 209 79 27.34 NA NA NA ALOX5 0 genome.wustl.edu 36 10 45258945 45258945 + Silent SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 10 45258945 45258945 C T SNP ALOX5 NM_000698.2 human genbank 54_36p +1 reviewed silent c.1527 p.F509 0.944 HMMPfam_Lipoxygenase,superfamily_Lipoxygenase HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_2,PatternScan_LIPOXYGENASE_1,superfamily_Lipoxygenase - no_errors 36 0 0.00 124 45 26.32 30 15 32.61 LOC387703 0 genome.wustl.edu 36 10 94956679 94956679 + RNA SNP G G A TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 10 94956679 94956679 G A SNP LOC387703 XR_016730.2 human genbank 54_36p -1 model rna NULL NULL 0.943 - - - pseudogene 201 3 1.46 410 277 39.86 NA NA NA ANO3 0 genome.wustl.edu 36 11 26620060 26620060 + Missense_Mutation SNP G G C TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 11 26620060 26620060 G C SNP ANO3 NM_031418.2 human genbank 54_36p +1 validated missense c.2183 p.G728A 0.983 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors 283 0 0.00 364 144 28.24 NA NA NA FREM2 0 genome.wustl.edu 36 13 38350970 38350970 + Silent SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 13 38350970 38350970 C T SNP FREM2 NM_207361.4 human genbank 54_36p +1 reviewed silent c.8862 p.D2954 1.000 NULL HMMPfam_Calx-beta,HMMSmart_SM00237 - no_errors 184 1 0.54 208 75 26.41 NA NA NA HERC2 0 genome.wustl.edu 36 15 26062848 26062848 + Missense_Mutation SNP G G T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 15 26062848 26062848 G T SNP HERC2 NM_004667.4 human genbank 54_36p -1 validated missense c.11269 p.L3757M 0.998 NULL HMMPfam_RCC1,PatternScan_RCC1_2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_Cyt-b5,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMSmart_SM00706,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_MIB_HERC2,PatternScan_PROTEIN_KINASE_ATP - no_errors 109 0 0.00 185 71 27.73 24 14 36.84 TP53 0 genome.wustl.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 17 7518263 7518263 C T SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1.000 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 254 5 1.93 321 283 46.47 14 79 84.95 ZNF229 0 genome.wustl.edu 36 19 49625375 49625375 + Missense_Mutation SNP G G C TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 19 49625375 49625375 G C SNP ZNF229 NM_014518.2 human genbank 54_36p -1 validated missense c.1421 p.S474C 0.205 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 206 0 0.00 276 135 32.61 4 2 33.33 RIN2 0 genome.wustl.edu 36 20 19904215 19904215 + Missense_Mutation SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 20 19904215 19904215 C T SNP RIN2 NM_018993.2 human genbank 54_36p +1 reviewed missense c.1546 p.R516C 0.801 NULL HMMPfam_RA,HMMSmart_SM00314,HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204),superfamily_SH2 domain - no_errors 67 0 0.00 198 78 28.26 6 6 50.00