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 CLDN6 9074 genome.wustl.edu 36 16 3005900 3005900 + Missense_Mutation SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 16 3005900 3005900 C T SNP CLDN6 NM_021195 human genbank 54_36p -1 validated missense c.124 p.V42M 0.986 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors WSCD1 23302 genome.wustl.edu 36 17 5932139 5932139 + Missense_Mutation SNP G G T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 17 5932139 5932139 G T SNP WSCD1 NM_015253 human genbank 54_36p +1 validated missense c.533 p.C178F 1.000 HMMSmart_WSC,HMMPfam_WSC HMMSmart_WSC,HMMPfam_WSC,superfamily_SSF52540 - no_errors KCNAB2 8514 genome.wustl.edu 36 1 6055425 6055425 + Missense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 6055425 6055425 G A SNP KCNAB2 NM_003636 human genbank 54_36p +1 reviewed missense c.143 p.R48Q 1.000 superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red - no_errors RPL22 6146 genome.wustl.edu 36 1 6169417 6169417 + Missense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 6169417 6169417 G A SNP RPL22 NM_000983 human genbank 54_36p -1 reviewed missense c.289 p.R97C 0.976 HMMPfam_Ribosomal_L22e HMMPfam_Ribosomal_L22e - no_errors FLJ33360 401172 genome.wustl.edu 36 5 6365543 6365543 + Silent SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 5 6365543 6365543 G A SNP FLJ33360 NM_001001702 human genbank 54_36p -1 predicted silent c.333 p.A111 0.003 NULL NULL - no_errors TP53 7157 genome.wustl.edu 36 17 7517750 7517750 + Nonsense_Mutation SNP T A A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 17 7517750 7517750 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.913 p.K305* 0.993 NULL HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors FRAP1 2475 genome.wustl.edu 36 1 11230737 11230737 + Missense_Mutation SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 11230737 11230737 C T SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.842 p.R281H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_SSF48452,HMMPfam_FAT,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC - no_errors DNAH9 1770 genome.wustl.edu 36 17 11613165 11613165 + Missense_Mutation SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 17 11613165 11613165 C T SNP DNAH9 NM_001372 human genbank 54_36p +1 reviewed missense c.7346 p.A2449V 0.935 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2 - no_errors DUSP16 80824 genome.wustl.edu 36 12 12521358 12521358 + Silent SNP A A G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 12 12521358 12521358 A G SNP DUSP16 NM_030640 human genbank 54_36p -1 validated silent c.1674 p.Y558 1.000 NULL superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1 - no_errors TRMT2A 27037 genome.wustl.edu 36 22 18483847 18483847 + Missense_Mutation SNP G A A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 22 18483847 18483847 G A SNP TRMT2A NM_022727 human genbank 54_36p -1 validated missense c.313 p.L105F 1.000 superfamily_RNA-binding domain RBD superfamily_RNA-binding domain RBD,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_11 - no_errors PQLC2 54896 genome.wustl.edu 36 1 19516826 19516826 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 19516826 19516826 G A SNP PQLC2 NM_001040125 human genbank 54_36p +1 validated nonsense c.68 p.W23* 1.000 NULL HMMPfam_PQ-loop,HMMSmart_SM00679 - no_errors GYS2 2998 genome.wustl.edu 36 12 21584764 21584764 + Missense_Mutation SNP G G C novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 12 21584764 21584764 G C SNP GYS2 NM_021957 human genbank 54_36p -1 validated missense c.1656 p.I552M 0.891 HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - no_errors FAM126A 84668 genome.wustl.edu 36 7 22951901 22951901 + Silent SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 7 22951901 22951901 C T SNP FAM126A NM_032581 human genbank 54_36p -1 reviewed silent c.1398 p.P466 0.004 NULL HMMPfam_Hyccin - no_errors RBBP6 5930 genome.wustl.edu 36 16 24490070 24490070 + Silent SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 16 24490070 24490070 C T SNP RBBP6 NM_006910 human genbank 54_36p +1 reviewed silent c.4182 p.N1394 0.000 NULL HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00184 - no_errors ZKSCAN2 342357 genome.wustl.edu 36 16 25165926 25165926 + Silent SNP A A C novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 16 25165926 25165926 A C SNP ZKSCAN2 NM_001012981 human genbank 54_36p -1 validated silent c.1092 p.L364 0.885 NULL HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HIST1H2BC 8347 genome.wustl.edu 36 6 26231755 26231755 + Silent SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 6 26231755 26231755 G A SNP HIST1H2BC NM_003526 human genbank 54_36p -1 reviewed silent c.357 p.V119 1.000 superfamily_Histone-fold,HMMSmart_SM00427 superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors HIST1H4G 8369 genome.wustl.edu 36 6 26354951 26354951 + Missense_Mutation SNP C C A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 6 26354951 26354951 C A SNP HIST1H4G NM_003547 human genbank 54_36p -1 reviewed missense c.234 p.K78N 1.000 superfamily_Histone-fold,HMMSmart_H4,HMMPfam_Histone PatternScan_HISTONE_H4,superfamily_Histone-fold,HMMSmart_H4,HMMPfam_Histone - no_errors ASXL3 80816 genome.wustl.edu 36 18 29573054 29573054 + Missense_Mutation SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 18 29573054 29573054 C T SNP ASXL3 NM_030632 human genbank 54_36p +1 validated missense c.1688 p.T563I 0.035 NULL NULL - no_errors SRCAP 10847 genome.wustl.edu 36 16 30643879 30643879 + Missense_Mutation SNP C C G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 16 30643879 30643879 C G SNP SRCAP NM_006662 human genbank 54_36p +1 validated missense c.5633 p.P1878R 1.000 NULL HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_AT_hook,HMMSmart_SM00384 - no_errors HERPUD2 64224 genome.wustl.edu 36 7 35640560 35640560 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 7 35640560 35640560 G A SNP HERPUD2 NM_022373 human genbank 54_36p -1 validated nonsense c.946 p.Q316* 1.000 NULL superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin - no_errors KRT36 8689 genome.wustl.edu 36 17 36898179 36898179 + Splice_Site SNP T T A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 17 36898179 36898179 T A SNP KRT36 NM_003771 human genbank 54_36p -1 reviewed splice_site c.543-2 e3-2 0.997 - - - no_errors KIF18B 146909 genome.wustl.edu 36 17 40359064 40359064 + Silent SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 17 40359064 40359064 G A SNP KIF18B NM_001080443 human genbank 54_36p -1 provisional silent c.2478 p.P826 0.197 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors RNF165 494470 genome.wustl.edu 36 18 42284698 42284698 + Missense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 18 42284698 42284698 G A SNP RNF165 NM_152470 human genbank 54_36p +1 validated missense c.754 p.V252M 1.000 NULL PatternScan_ZF_RING_1,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 - no_errors BMS1 9790 genome.wustl.edu 36 10 42601124 42601124 + Nonsense_Mutation SNP C C G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 10 42601124 42601124 C G SNP BMS1 NM_014753 human genbank 54_36p +1 reviewed nonsense c.365 p.S122* 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AARP2CN,HMMSmart_SM00785,HMMPfam_DUF663 - no_errors FAM98C 147965 genome.wustl.edu 36 19 43591287 43591287 + Silent SNP C C G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 19 43591287 43591287 C G SNP FAM98C NM_174905 human genbank 54_36p +1 validated silent c.975 p.P325 1.000 HMMPfam_DUF2465 HMMPfam_DUF2465 - no_errors FBN1 2200 genome.wustl.edu 36 15 46490576 46490576 + Missense_Mutation SNP T T C novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 15 46490576 46490576 T C SNP FBN1 NM_000138 human genbank 54_36p -1 reviewed missense c.8519 p.K2840R 1.000 NULL HMMSmart_SM00181,HMMPfam_EGF,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_Concanavalin A-like lectins/glucanases,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Growth factor receptor domain - no_errors ZNF816A 125893 genome.wustl.edu 36 19 58146336 58146336 + Silent SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 19 58146336 58146336 G A SNP ZNF816A NM_001031665 human genbank 54_36p -1 validated silent c.504 p.H168 0.000 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF48695 - no_errors LEPR 3953 genome.wustl.edu 36 1 65808882 65808882 + Missense_Mutation SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 65808882 65808882 C T SNP LEPR NM_002303 human genbank 54_36p +1 validated missense c.179 p.S60L 0.000 NULL superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1,HMMPfam_Lep_receptor_Ig,PatternScan_HEMATOPO_REC_L_F2 - no_errors C1D 10438 genome.wustl.edu 36 2 68123620 68123620 + Nonsense_Mutation SNP T T A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 2 68123620 68123620 T A SNP C1D NM_006333 human genbank 54_36p -1 reviewed nonsense c.331 p.R111* 0.990 NULL HMMPfam_Sas10_Utp3 - no_errors MTO1 25821 genome.wustl.edu 36 6 74246423 74246423 + Missense_Mutation SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 6 74246423 74246423 C T SNP MTO1 NM_133645 human genbank 54_36p +1 reviewed missense c.982 p.R328C 1.000 superfamily_FAD/NAD(P)-binding domain,HMMPfam_GIDA superfamily_FAD/NAD(P)-binding domain,HMMPfam_GIDA,PatternScan_GIDA_1,PatternScan_GIDA_2 - no_errors SV2C 22987 genome.wustl.edu 36 5 75463686 75463686 + Missense_Mutation SNP G G T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 5 75463686 75463686 G T SNP SV2C NM_014979 human genbank 54_36p +1 provisional missense c.355 p.D119Y 1.000 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors RCHY1 25898 genome.wustl.edu 36 4 76653460 76653460 + Missense_Mutation SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 4 76653460 76653460 C T SNP RCHY1 NM_015436 human genbank 54_36p -1 reviewed missense c.161 p.R54H 1.000 HMMPfam_zf-CHY HMMPfam_zf-CHY,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors NTRK2 4915 genome.wustl.edu 36 9 86532600 86532600 + Silent SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 9 86532600 86532600 C T SNP NTRK2 NM_006180 human genbank 54_36p +1 reviewed silent c.1065 p.N355 1.000 superfamily_SSF48726 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IGc2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II - no_errors ENSG00000211618 0 genome.wustl.edu 36 2 89400538 89400538 + Missense_Mutation SNP T T C novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 2 89400538 89400538 T C SNP ENSG00000211618 ENST00000390263 human ensembl 54_36p -1 known missense c.311 p.D104G 1.000 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region GRID2 2895 genome.wustl.edu 36 4 94595842 94595842 + Missense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 4 94595842 94595842 G A SNP GRID2 NM_001510 human genbank 54_36p +1 validated missense c.1552 p.D518N 1.000 HMMSmart_PBPe,superfamily_SSF53850 superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors MUC17 140453 genome.wustl.edu 36 7 100470612 100470612 + Silent SNP C C G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 7 100470612 100470612 C G SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional silent c.9195 p.T3065 0.000 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors GLT8D2 83468 genome.wustl.edu 36 12 102914707 102914707 + Missense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 12 102914707 102914707 G A SNP GLT8D2 NM_031302 human genbank 54_36p -1 provisional missense c.536 p.A179V 1.000 superfamily_SSF53448,HMMPfam_Glyco_transf_8 superfamily_SSF53448,HMMPfam_Glyco_transf_8 - no_errors ACTL7A 10881 genome.wustl.edu 36 9 110664564 110664564 + Silent SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 9 110664564 110664564 G A SNP ACTL7A NM_006687 human genbank 54_36p +1 reviewed silent c.141 p.T47 0.000 NULL HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268 - no_errors OAS2 4939 genome.wustl.edu 36 12 111927298 111927298 + Silent SNP C C G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 12 111927298 111927298 C G SNP OAS2 NM_016817 human genbank 54_36p +1 reviewed silent c.1356 p.V452 0.006 superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2 superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMPfam_NTP_transf_2 - no_errors METTL14 57721 genome.wustl.edu 36 4 119837791 119837791 + Silent SNP A A G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 4 119837791 119837791 A G SNP METTL14 NM_020961 human genbank 54_36p +1 provisional silent c.510 p.L170 1.000 NULL HMMPfam_MT-A70 - no_errors C11orf63 79864 genome.wustl.edu 36 11 122279987 122279987 + Silent SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 11 122279987 122279987 C T SNP C11orf63 NM_024806 human genbank 54_36p +1 validated silent c.489 p.L163 0.001 NULL NULL - no_errors ZNF608 57507 genome.wustl.edu 36 5 124008125 124008125 + Missense_Mutation SNP C C G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 5 124008125 124008125 C G SNP ZNF608 NM_020747 human genbank 54_36p -1 validated missense c.3834 p.E1278D 0.732 NULL PatternScan_ZINC_FINGER_C2H2_1 - no_errors TMEM132B 114795 genome.wustl.edu 36 12 124570082 124570082 + Missense_Mutation SNP C C A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 12 124570082 124570082 C A SNP TMEM132B NM_052907 human genbank 54_36p +1 provisional missense c.1236 p.F412L 0.995 NULL NULL - no_errors TG 7038 genome.wustl.edu 36 8 134004917 134004917 + Missense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 8 134004917 134004917 G A SNP TG NM_003235 human genbank 54_36p +1 validated missense c.4681 p.E1561K 0.000 superfamily_Thyroglobulin type-1 domain,HMMSmart_SM00211 superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2 - no_errors CEL 1056 genome.wustl.edu 36 9 134936946 134936946 + Missense_Mutation SNP C C A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 9 134936946 134936946 C A SNP CEL NM_001807 human genbank 54_36p +1 validated missense c.2245 p.Q749K 0.243 NULL HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1 - no_errors GFRA3 2676 genome.wustl.edu 36 5 137627967 137627967 + Silent SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 5 137627967 137627967 C T SNP GFRA3 NM_001496 human genbank 54_36p -1 reviewed silent c.261 p.L87 0.422 superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF - no_errors PCDHGA4 56111 genome.wustl.edu 36 5 140716657 140716657 + Missense_Mutation SNP C C A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 5 140716657 140716657 C A SNP PCDHGA4 NM_018917 human genbank 54_36p +1 reviewed missense c.1706 p.T569N 0.651 superfamily_Cadherin-like superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors FLG 2312 genome.wustl.edu 36 1 150551005 150551005 + Missense_Mutation SNP C C T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 150551005 150551005 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.2981 p.G994D 0.000 NULL superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin - no_errors CLRN1 7401 genome.wustl.edu 36 3 152128424 152128424 + Missense_Mutation SNP G G T novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 3 152128424 152128424 G T SNP CLRN1 NM_174878 human genbank 54_36p -1 reviewed missense c.688 p.L230I 1.000 NULL NULL - no_errors IQGAP3 128239 genome.wustl.edu 36 1 154762909 154762909 + Missense_Mutation SNP C C G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 154762909 154762909 C G SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated missense c.4889 p.R1630P 0.998 NULL superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,HMMSmart_IQ,superfamily_SSF52540,HMMPfam_IQ,superfamily_Rho_GAP,HMMSmart_RasGAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C - no_errors PLA2R1 22925 genome.wustl.edu 36 2 160597837 160597837 + Silent SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 2 160597837 160597837 G A SNP PLA2R1 NM_007366 human genbank 54_36p -1 validated silent c.720 p.H240 1.000 superfamily_C-type lectin-like,HMMSmart_SM00034 superfamily_Ricin B-like lectins,HMMSmart_SM00458,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors HOXD10 3236 genome.wustl.edu 36 2 176690249 176690249 + Missense_Mutation SNP G G A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 2 176690249 176690249 G A SNP HOXD10 NM_002148 human genbank 54_36p +1 reviewed missense c.442 p.V148I 1.000 NULL superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors TTN 7273 genome.wustl.edu 36 2 179304695 179304695 + Missense_Mutation SNP T T C novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 2 179304695 179304695 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.13420 p.S4474G 0.916 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors TTN 7273 genome.wustl.edu 36 2 179368031 179368031 + Missense_Mutation SNP T T A novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 2 179368031 179368031 T A SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.1108 p.I370F 0.999 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors LAX1 54900 genome.wustl.edu 36 1 202010142 202010142 + Missense_Mutation SNP A A G novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 202010142 202010142 A G SNP LAX1 NM_017773 human genbank 54_36p +1 validated missense c.907 p.S303G 0.000 NULL NULL - no_errors OR2L3 391192 genome.wustl.edu 36 1 246291060 246291060 + Missense_Mutation SNP T T C novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 246291060 246291060 T C SNP OR2L3 NM_001004687 human genbank 54_36p +1 provisional missense c.454 p.S152P 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PLXNA2 5362 genome.wustl.edu 36 1 206457921 206457921 + Frame_Shift_Del DEL C C - novel unknown TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5df269f0-fa83-414a-b784-46b4a5038062 2cce7130-6bf7-4dee-9984-a5b1155c1160 1 206457921 206457921 C - DEL PLXNA2 ENST00000321063 human ensembl 54_36p -1 known frame_shift_del c.15 p.S6fs 0.233 NULL superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP (deletion:cds_exon[206456703,206457935]) no_errors