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 CYBB 0 genome.wustl.edu 36 X 37550606 37550606 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 X 37550606 37550606 G A SNP CYBB NM_000397.3 human genbank 54_36p +1 reviewed missense c.1337 p.R446Q 1.000 HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain HMMPfam_FAD_binding_8,HMMPfam_NAD_binding_6,HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain - no_errors 1460 2 0.14 408 644 60.98 NA NA NA C1orf168 0 genome.wustl.edu 36 1 57027291 57027291 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 1 57027291 57027291 C T SNP C1orf168 NM_001004303.4 human genbank 54_36p -1 validated missense c.862 p.V288M 0.410 NULL superfamily_SH3-domain - no_errors 1447 5 0.34 661 306 31.58 NA NA NA PAPPA2 0 genome.wustl.edu 36 1 175025647 175025647 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 1 175025647 175025647 C T SNP PAPPA2 NM_020318.2 human genbank 54_36p +1 validated missense c.4795 p.P1599S 0.691 HMMSmart_SM00032,superfamily_Complement control module/SCR domain "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain,PatternScan_N6_MTASE,PatternScan_ZINC_PROTEASE,HMMSmart_SM00560,HMMPfam_Peptidase_M43,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Complement control module/SCR domain,superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors 1924 1 0.05 1086 523 32.48 NA NA NA NAV1 0 genome.wustl.edu 36 1 200043815 200043815 + Missense_Mutation SNP C C G TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 1 200043815 200043815 C G SNP NAV1 NM_020443.3 human genbank 54_36p +1 reviewed missense c.3751 p.P1251A 1.000 NULL HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540 - no_errors 1948 0 0.00 728 339 31.71 NA NA NA ABCG8 0 genome.wustl.edu 36 2 43933059 43933059 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 2 43933059 43933059 G A SNP ABCG8 NM_022437.2 human genbank 54_36p +1 reviewed missense c.624 p.M208I 0.069 HMMPfam_ABC_tran,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_ABC_tran,HMMPfam_ABC2_membrane,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1027 0 0.00 620 365 37.06 NA NA NA IL1R1 0 genome.wustl.edu 36 2 102159637 102159637 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 2 102159637 102159637 G A SNP IL1R1 NM_000877.2 human genbank 54_36p +1 reviewed missense c.1696 p.V566M 0.000 NULL HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 1704 1 0.06 985 478 32.67 NA NA NA LRP1B 0 genome.wustl.edu 36 2 140799826 140799826 + Silent SNP T T C TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 2 140799826 140799826 T C SNP LRP1B NM_018557.2 human genbank 54_36p -1 validated silent c.12315 p.S4105 0.934 HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 HMMPfam_Ldl_recept_b,HMMSmart_LY,PatternScan_ASX_HYDROXYL,HMMPfam_NHL,HMMSmart_EGF_CA,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825 - no_errors 1711 2 0.12 1223 492 28.69 NA NA NA UGT1A10 0 genome.wustl.edu 36 2 234210397 234210397 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 2 234210397 234210397 C T SNP UGT1A10 NM_019075.2 human genbank 54_36p +1 reviewed missense c.490 p.P164S 0.874 HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - no_errors 420 1 0.24 400 176 30.56 NA NA NA FAM19A4 0 genome.wustl.edu 36 3 68884727 68884727 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 3 68884727 68884727 C T SNP FAM19A4 NM_001005527.1 human genbank 54_36p -1 reviewed missense c.263 p.R88Q 1.000 NULL NULL - no_errors 1486 0 0.00 911 438 32.42 NA NA NA MGLL 0 genome.wustl.edu 36 3 128896697 128896697 + Silent SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 3 128896697 128896697 C T SNP MGLL NM_007283.1 human genbank 54_36p -1 validated silent c.627 p.L209 0.991 HMMPfam_Abhydrolase_1,superfamily_SSF53474 HMMPfam_Abhydrolase_1,PatternScan_LIPASE_SER,superfamily_SSF53474 - no_errors 768 0 0.00 414 180 30.30 NA NA NA PLRG1 0 genome.wustl.edu 36 4 155677932 155677932 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 4 155677932 155677932 C T SNP PLRG1 NM_002669.2 human genbank 54_36p -1 provisional missense c.1441 p.E481K 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 1182 4 0.34 688 328 32.28 NA NA NA SLC26A2 0 genome.wustl.edu 36 5 149338005 149338005 + Silent SNP T T C TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 5 149338005 149338005 T C SNP SLC26A2 NM_000112.3 human genbank 54_36p +1 reviewed silent c.597 p.N199 0.008 NULL HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A - no_errors 1500 0 0.00 675 303 30.98 NA NA NA LRP4 0 genome.wustl.edu 36 11 46862048 46862048 + Silent SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 11 46862048 46862048 G A SNP LRP4 NM_002334.2 human genbank 54_36p -1 validated silent c.2562 p.I854 1.000 HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain HMMPfam_Ldl_recept_b,HMMSmart_SM00135,PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_YWTD domain - no_errors 1651 0 0.00 826 348 29.57 NA NA NA BICD1 0 genome.wustl.edu 36 12 32421790 32421790 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 12 32421790 32421790 G A SNP BICD1 NM_001714.1 human genbank 54_36p +1 reviewed missense c.2890 p.A964T 0.995 NULL HMMPfam_BicD - no_errors 758 2 0.26 430 211 32.87 NA NA NA NOS1 0 genome.wustl.edu 36 12 116154185 116154185 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 12 116154185 116154185 C T SNP NOS1 NM_000620.2 human genbank 54_36p -1 validated missense c.3370 p.E1124K 1.000 HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like HMMPfam_NAD_binding_1,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_FAD_binding_1,HMMPfam_NO_synthase,PatternScan_NOS,superfamily_Nitric oxide (NO) synthase oxygenase domain,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,superfamily_Flavoproteins,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain - no_errors 1929 1 0.05 735 370 33.45 NA NA NA TTLL5 0 genome.wustl.edu 36 14 75302285 75302285 + Silent SNP A A G TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 14 75302285 75302285 A G SNP TTLL5 NM_015072.3 human genbank 54_36p +1 validated silent c.1836 p.R612 0.056 NULL HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like - no_errors 936 1 0.11 705 313 30.75 NA NA NA RNF111 0 genome.wustl.edu 36 15 57155571 57155571 + Nonsense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 15 57155571 57155571 C T SNP RNF111 NM_017610.6 human genbank 54_36p +1 reviewed nonsense c.1813 p.Q605* 1.000 NULL HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box - no_errors 941 0 0.00 523 220 29.53 NA NA NA PARP6 0 genome.wustl.edu 36 15 70336820 70336820 + Missense_Mutation SNP G G T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 15 70336820 70336820 G T SNP PARP6 NM_020214.2 human genbank 54_36p -1 provisional missense c.922 p.R308S 0.993 NULL HMMPfam_PARP,superfamily_ADP-ribosylation - no_errors 1316 10 0.75 725 332 31.41 NA NA NA NAPA 0 genome.wustl.edu 36 19 52687146 52687146 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 19 52687146 52687146 C T SNP NAPA NM_003827.2 human genbank 54_36p -1 reviewed missense c.604 p.A202T 1.000 superfamily_TPR-like HMMPfam_NSF,superfamily_TPR-like - no_errors 1045 3 0.29 566 207 26.64 NA NA NA KCNQ2 0 genome.wustl.edu 36 20 61509008 61509008 + Silent SNP G G T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 20 61509008 61509008 G T SNP KCNQ2 NM_172107.4 human genbank 54_36p -1 reviewed silent c.2052 p.G684 1.000 NULL HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_Voltage-gated potassium channels - no_errors 163 0 0.00 84 42 33.33 NA NA NA JAM2 0 genome.wustl.edu 36 21 25988020 25988020 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 21 25988020 25988020 G A SNP JAM2 NM_021219.2 human genbank 54_36p +1 reviewed missense c.323 p.R108H 0.994 HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,superfamily_SSF48726 - no_errors 1121 1 0.09 710 357 33.46 NA NA NA CSMD1 0 genome.wustl.edu 36 8 2987460 2987460 + Frame_Shift_Del DEL C C - TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 8 2987460 2987460 C - DEL CSMD1 NM_033225.4 human genbank 54_36p -1 validated frame_shift_del c.6179 p.N2061fs 0.975 NULL HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 709 0 0.00 374 169 30.23 NA NA NA WT1 0 genome.wustl.edu 36 11 32374498 32374499 + Frame_Shift_Ins INS - - TCGGGGCTAC TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 - - - TCGGGGCTAC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 11 32374498 32374499 - TCGGGGCTAC INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1130_1129 p.T377fs 0.991:0.888 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors NA NA NA NA NA NA NA NA NA