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 GJB4 0 genome.wustl.edu 36 1 34999735 34999735 + Missense_Mutation SNP G G A TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 1 34999735 34999735 G A SNP GJB4 NM_153212.1 human genbank 54_36p +1 validated missense c.293 p.R98H 0.975 HMMPfam_Connexin HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC - no_errors 49 2 3.92 69 51 42.15 NA NA NA LOC389000 0 genome.wustl.edu 36 2 91440296 91440296 + Missense_Mutation SNP A A G TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 2 91440296 91440296 A G SNP LOC389000 XM_371534.1 human genbank 54_36p -1 model missense c.1130 p.L377P 1.000 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - pseudogene 30 1 3.23 78 18 18.75 1 0 0.00 ZNF394 0 genome.wustl.edu 36 7 98929185 98929185 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 7 98929185 98929185 C T SNP ZNF394 NM_032164.2 human genbank 54_36p -1 provisional missense c.1589 p.C530Y 1.000 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_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 281 20 6.64 153 94 37.90 86 94 52.22 ZC3HC1 0 genome.wustl.edu 36 7 129453268 129453268 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 7 129453268 129453268 C T SNP ZC3HC1 NM_016478.3 human genbank 54_36p -1 validated missense c.742 p.A248T 1.000 NULL HMMPfam_zf-C3HC - no_errors 62 4 6.06 47 38 43.68 13 15 53.57 PTAR1 0 genome.wustl.edu 36 9 71537035 71537035 + Missense_Mutation SNP G G A TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 9 71537035 71537035 G A SNP PTAR1 NM_001099666.1 human genbank 54_36p -1 validated missense c.482 p.T161I 0.715 superfamily_Prenyl_trans HMMPfam_PPTA,superfamily_Prenyl_trans - no_errors 97 7 6.73 97 88 47.31 7 8 53.33 PLEKHH1 0 genome.wustl.edu 36 14 67110289 67110289 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 14 67110289 67110289 C T SNP PLEKHH1 NM_020715.2 human genbank 54_36p +1 validated missense c.1858 p.P620S 1.000 HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like HMMPfam_MyTH4,HMMSmart_SM00139,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like - no_errors 100 8 7.41 114 69 37.10 NA NA NA VASH1 0 genome.wustl.edu 36 14 76314113 76314113 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 14 76314113 76314113 C T SNP VASH1 NM_014909.4 human genbank 54_36p +1 validated missense c.971 p.S324F 1.000 NULL NULL - no_errors 38 2 5.00 34 38 52.05 9 11 55.00 ADPGK 0 genome.wustl.edu 36 15 70832206 70832206 + Silent SNP A A G TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 15 70832206 70832206 A G SNP ADPGK NM_031284.4 human genbank 54_36p -1 validated silent c.1020 p.S340 0.316 HMMPfam_ADP_PFK_GK,superfamily_SSF53613 HMMPfam_ADP_PFK_GK,superfamily_SSF53613 - no_errors 64 3 4.48 83 60 41.67 114 125 52.30 LOC728138 0 genome.wustl.edu 36 16 14990830 14990830 + Missense_Mutation SNP T T C TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 16 14990830 14990830 T C SNP LOC728138 XM_001128282.2 human genbank 54_36p -1 model missense c.689 p.K230R 0.200 HMMPfam_DUF2152 HMMPfam_DUF2152 - no_errors 26 0 0.00 42 11 20.75 34 1 2.86 PKD1L2 0 genome.wustl.edu 36 16 79719117 79719117 + Silent SNP C C A TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 16 79719117 79719117 C A SNP PKD1L2 ENST00000299598 human ensembl 54_36p -1 known silent c.6108 p.V2036 1.000 HMMPfam_PKD_channel HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like - no_errors 226 13 5.44 169 138 44.52 NA NA NA ZNF486 0 genome.wustl.edu 36 19 20169074 20169074 + Missense_Mutation SNP A A G TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 19 20169074 20169074 A G SNP ZNF486 NM_052852.2 human genbank 54_36p +1 provisional missense c.555 p.I185M 0.281 superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 57 0 0.00 68 59 46.46 NA NA NA SREBF2 0 genome.wustl.edu 36 22 40603972 40603972 + Missense_Mutation SNP G G A TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 22 40603972 40603972 G A SNP SREBF2 NM_004599.2 human genbank 54_36p +1 reviewed missense c.1660 p.V554M 1.000 NULL HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic - no_errors 91 6 6.19 79 50 38.76 59 71 54.62