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 NRK 0 genome.wustl.edu 36 X 105065038 105065038 + Missense_Mutation SNP T T C TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 X 105065038 105065038 T C SNP NRK ENST00000243300 human ensembl 54_36p +1 known missense c.3448 p.S1150P 0.982 NULL HMMPfam_CNH,HMMSmart_SM00036,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_p53-like transcription factors,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 776 1 0.13 425 65 13.24 NA NA NA LRRC47 0 genome.wustl.edu 36 1 3690478 3690478 + Silent SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 1 3690478 3690478 G A SNP LRRC47 NM_020710.2 human genbank 54_36p -1 validated silent c.1252 p.L418 0.603 HMMPfam_B3_4 HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_B3_4,superfamily_SSF52047 - no_errors 345 0 0.00 59 68 53.12 22 18 40.00 NOTCH2NL 0 genome.wustl.edu 36 1 143984723 143984723 + Nonsense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 1 143984723 143984723 C T SNP NOTCH2NL NM_203458.3 human genbank 54_36p +1 validated nonsense c.220 p.R74* 0.852 HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 5403 5 0.09 3924 650 14.20 66 15 18.52 ATP6V1G3 0 genome.wustl.edu 36 1 196776363 196776363 + Missense_Mutation SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 1 196776363 196776363 G A SNP ATP6V1G3 NM_133262.2 human genbank 54_36p -1 reviewed missense c.41 p.A14V 1.000 HMMPfam_V-ATPase_G HMMPfam_V-ATPase_G - no_errors 1583 2 0.13 603 380 38.62 NA NA NA LOC200493 0 genome.wustl.edu 36 2 873813 873813 + Missense_Mutation SNP C C G TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 2 873813 873813 C G SNP LOC200493 XM_115715.5 human genbank 54_36p -1 model missense c.458 p.W153S 0.011 NULL NULL - no_start_codon:pseudogene:no_stop_codon 2319 0 0.00 409 304 42.46 NA NA NA LOC643905 0 genome.wustl.edu 36 2 240630916 240630916 + Missense_Mutation SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 2 240630916 240630916 G A SNP LOC643905 NM_001080835.1 human genbank 54_36p -1 predicted missense c.157 p.R53W 0.003 NULL NULL - no_errors 4899 3 0.06 4376 670 13.27 NA NA NA CELSR3 0 genome.wustl.edu 36 3 48669475 48669475 + Silent SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 3 48669475 48669475 C T SNP CELSR3 NM_001407.2 human genbank 54_36p -1 reviewed silent c.4059 p.Q1353 1.000 NULL PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_EGF/Laminin - no_errors 819 1 0.12 162 148 47.59 7 1 12.50 PCDHGA3 0 genome.wustl.edu 36 5 140704389 140704389 + Missense_Mutation SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 5 140704389 140704389 G A SNP PCDHGA3 NM_018916.3 human genbank 54_36p +1 reviewed missense c.605 p.R202H 0.968 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 1100 3 0.27 276 100 26.60 NA NA NA MDFI 0 genome.wustl.edu 36 6 41729194 41729194 + Missense_Mutation SNP C C A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 6 41729194 41729194 C A SNP MDFI NM_005586.3 human genbank 54_36p +1 reviewed missense c.644 p.P215H 1.000 NULL PatternScan_TNFR_NGFR_1 - no_errors 1362 3 0.22 297 198 40.00 NA NA NA GRIK2 0 genome.wustl.edu 36 6 102618564 102618564 + Missense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 6 102618564 102618564 C T SNP GRIK2 NM_175768.3 human genbank 54_36p +1 reviewed missense c.2597 p.P866L 1.000 NULL HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850 - no_errors 1077 1 0.09 88 66 42.58 NA NA NA FNDC1 0 genome.wustl.edu 36 6 159573533 159573533 + Missense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 6 159573533 159573533 C T SNP FNDC1 NM_032532.2 human genbank 54_36p +1 validated missense c.1999 p.R667W 0.002 NULL HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors 277 1 0.36 103 124 53.91 NA NA NA MAGI2 0 genome.wustl.edu 36 7 77487021 77487021 + Silent SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 7 77487021 77487021 C T SNP MAGI2 NM_012301.3 human genbank 54_36p -1 reviewed silent c.3915 p.Q1305 1.000 NULL HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 286 0 0.00 57 65 53.28 NA NA NA PARD3 0 genome.wustl.edu 36 10 34440220 34440220 + Missense_Mutation SNP G G T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 10 34440220 34440220 G T SNP PARD3 NM_019619.2 human genbank 54_36p -1 provisional missense c.3954 p.D1318E 1.000 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like - no_errors 581 0 0.00 169 130 43.48 NA NA NA IGHMBP2 0 genome.wustl.edu 36 11 68460886 68460886 + Nonsense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 11 68460886 68460886 C T SNP IGHMBP2 NM_002180.2 human genbank 54_36p +1 reviewed nonsense c.2362 p.R788* 0.000 NULL HMMSmart_SM00154,HMMPfam_R3H,HMMSmart_SM00393,HMMSmart_SM00382,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_R3H domain - no_errors 470 0 0.00 109 98 47.34 7 3 30.00 SELPLG 0 genome.wustl.edu 36 12 107541809 107541809 + Missense_Mutation SNP T T G TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 12 107541809 107541809 T G SNP SELPLG ENST00000228463 human ensembl 54_36p -1 known missense c.404 p.Q135P 0.000 NULL NULL - no_errors 5024 15 0.30 1323 340 20.35 80 6 6.98 TBC1D4 0 genome.wustl.edu 36 13 74828310 74828310 + Missense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 13 74828310 74828310 C T SNP TBC1D4 NM_014832.2 human genbank 54_36p -1 validated missense c.1249 p.V417I 1.000 HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like - no_errors 3311 2 0.06 604 345 36.35 0 1 100.00 FAM70B 0 genome.wustl.edu 36 13 113606057 113606057 + Missense_Mutation SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 13 113606057 113606057 G A SNP FAM70B NM_182614.2 human genbank 54_36p -1 provisional missense c.698 p.P233L 0.868 NULL NULL - no_errors 219 0 0.00 73 78 51.66 0 0 0.00 ENSG00000209508 0 genome.wustl.edu 36 16 3357715 3357715 + RNA SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 16 3357715 3357715 G A SNP ENSG00000209508 ENST00000386773 human ensembl 54_36p +1 novel rna NULL NULL 0.998 - - - pseudogene 856 0 0.00 219 129 36.96 1 0 0.00 SLC25A11 0 genome.wustl.edu 36 17 4783930 4783930 + Silent SNP G G C TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 17 4783930 4783930 G C SNP SLC25A11 NM_003562.3 human genbank 54_36p -1 provisional silent c.21 p.A7 0.997 NULL superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors 264 2 0.75 22 16 42.11 25 16 39.02 CAPS 0 genome.wustl.edu 36 19 5865448 5865448 + Missense_Mutation SNP C C G TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 19 5865448 5865448 C G SNP CAPS NM_004058.3 human genbank 54_36p +1 validated missense c.31 p.L11V 1.000 superfamily_SSF47473 HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 - no_errors 255 2 0.77 72 35 32.71 8 5 38.46 ELL 0 genome.wustl.edu 36 19 18422476 18422476 + Missense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 19 18422476 18422476 C T SNP ELL NM_006532.2 human genbank 54_36p -1 validated missense c.1276 p.G426S 0.270 NULL HMMPfam_Occludin_ELL,HMMPfam_ELL - no_errors 90 0 0.00 20 21 51.22 7 2 22.22 SON 0 genome.wustl.edu 36 21 33846477 33846477 + Missense_Mutation SNP A A G TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 21 33846477 33846477 A G SNP SON NM_138927.1 human genbank 54_36p +1 reviewed missense c.3070 p.M1024V 1.000 NULL HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_dsrm,superfamily_dsRNA-binding domain-like - no_errors 1197 2 0.17 315 238 43.04 149 136 47.72 GCAT 0 genome.wustl.edu 36 22 36539478 36539478 + Silent SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 22 36539478 36539478 C T SNP GCAT NM_014291.2 human genbank 54_36p +1 reviewed silent c.492 p.D164 0.999 HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major PatternScan_AA_TRANSFER_CLASS_2,HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major - no_errors 779 0 0.00 180 117 39.39 10 7 41.18