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 SLC4A11 83959 genome.wustl.edu 36 20 3159161 3159161 + Missense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 20 3159161 3159161 C A SNP SLC4A11 NM_032034 human genbank 54_36p -1 validated missense c.1463 p.R488M 1.000 HMMPfam_HCO3_cotransp superfamily_Phoshotransferase/anion transport protein,HMMPfam_HCO3_cotransp - no_errors INSL6 11172 genome.wustl.edu 36 9 5175596 5175596 + Silent SNP G G T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 9 5175596 5175596 G T SNP INSL6 NM_007179 human genbank 54_36p -1 reviewed silent c.7 p.R3 0.005 NULL superfamily_Insulin-like,HMMPfam_Insulin,HMMSmart_IlGF,PatternScan_INSULIN - no_errors FUT3 2525 genome.wustl.edu 36 19 5795007 5795007 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 19 5795007 5795007 C T SNP FUT3 NM_000149 human genbank 54_36p -1 reviewed missense c.844 p.E282K 0.924 HMMPfam_Glyco_transf_10 HMMPfam_Glyco_transf_10 - no_errors TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.807 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors STXBP2 6813 genome.wustl.edu 36 19 7617161 7617161 + Missense_Mutation SNP G G T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 19 7617161 7617161 G T SNP STXBP2 NM_006949 human genbank 54_36p +1 validated missense c.1383 p.E461D 0.909 superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1 superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1 - no_errors PTPRD 5789 genome.wustl.edu 36 9 8307907 8307907 + Missense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 9 8307907 8307907 C A SNP PTPRD NM_002839 human genbank 54_36p -1 reviewed missense c.5706 p.E1902D 1.000 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors SLC45A1 50651 genome.wustl.edu 36 1 8326626 8326626 + Missense_Mutation SNP A A T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 8326626 8326626 A T SNP SLC45A1 NM_001080397 human genbank 54_36p +1 provisional missense c.2213 p.D738V 0.056 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,HMMPfam_MFS_1 - no_errors WWC3 55841 genome.wustl.edu 36 X 10045348 10045348 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 X 10045348 10045348 C T SNP WWC3 NM_015691 human genbank 54_36p +1 validated missense c.1249 p.P417S 0.979 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors SEC13 6396 genome.wustl.edu 36 3 10320775 10320775 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 3 10320775 10320775 C G SNP SEC13 NM_183352 human genbank 54_36p -1 reviewed missense c.790 p.V264L 1.000 superfamily_WD40_like,HMMPfam_WD40,HMMSmart_WD40 PatternScan_WD_REPEATS_1,HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like - no_errors PDE4A 5141 genome.wustl.edu 36 19 10426567 10426567 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 19 10426567 10426567 G C SNP PDE4A NM_006202 human genbank 54_36p +1 validated missense c.129 p.Q43H 1.000 NULL superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors DNASE2 1777 genome.wustl.edu 36 19 12847952 12847952 + Missense_Mutation SNP A A C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 19 12847952 12847952 A C SNP DNASE2 NM_001375 human genbank 54_36p -1 reviewed missense c.935 p.M312R 1.000 HMMPfam_DNase_II HMMPfam_DNase_II,PatternScan_AKH - no_errors LOC729774 729774 genome.wustl.edu 36 18 14351655 14351655 + Silent SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 18 14351655 14351655 G C SNP LOC729774 XM_001131264 human genbank 54_36p -1 model silent c.324 p.L108 0.000 NULL NULL - no_errors ELA2A 63036 genome.wustl.edu 36 1 15666483 15666483 + Missense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 15666483 15666483 C A SNP ELA2A NM_033440 human genbank 54_36p +1 reviewed missense c.655 p.P219T 1.000 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors IL17RA 23765 genome.wustl.edu 36 22 15970378 15970378 + Missense_Mutation SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 22 15970378 15970378 G A SNP IL17RA NM_014339 human genbank 54_36p +1 reviewed missense c.2269 p.E757K 0.078 NULL HMMPfam_SEFIR - no_errors GATA6 2627 genome.wustl.edu 36 18 18016735 18016735 + Missense_Mutation SNP T T C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 18 18016735 18016735 T C SNP GATA6 NM_005257 human genbank 54_36p +1 validated missense c.1448 p.M483T 1.000 HMMSmart_SM00401,superfamily_Glucocorticoid receptor-like (DNA-binding domain) HMMPfam_GATA-N,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA - no_errors MACC1 346389 genome.wustl.edu 36 7 20165221 20165221 + Missense_Mutation SNP G G T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 7 20165221 20165221 G T SNP MACC1 NM_182762 human genbank 54_36p -1 validated missense c.1288 p.P430T 0.994 NULL HMMPfam_SH3_2,superfamily_DEATH domain - no_errors PDE3A 5139 genome.wustl.edu 36 12 20660547 20660547 + Silent SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 12 20660547 20660547 C T SNP PDE3A NM_000921 human genbank 54_36p +1 validated silent c.1386 p.R462 0.941 NULL superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors SLCO1B1 10599 genome.wustl.edu 36 12 21222808 21222808 + Missense_Mutation SNP G G T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 12 21222808 21222808 G T SNP SLCO1B1 NM_006446 human genbank 54_36p +1 reviewed missense c.513 p.W171C 1.000 superfamily_MFS general substrate transporter,HMMPfam_OATP superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2 - no_errors SLC22A17 51310 genome.wustl.edu 36 14 22888402 22888402 + Missense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 14 22888402 22888402 C A SNP SLC22A17 NM_020372 human genbank 54_36p -1 provisional missense c.445 p.G149C 0.826 HMMPfam_MFS_1,superfamily_MFS general substrate transporter HMMPfam_MFS_1,superfamily_MFS general substrate transporter,PatternScan_SUGAR_TRANSPORT_1,PatternScan_AA_TRNA_LIGASE_I - no_errors GRHL3 57822 genome.wustl.edu 36 1 24543981 24543981 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 24543981 24543981 C G SNP GRHL3 NM_021180 human genbank 54_36p +1 reviewed missense c.1442 p.P481R 0.041 NULL HMMPfam_CP2 - no_errors TCF23 150921 genome.wustl.edu 36 2 27229169 27229169 + Missense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 27229169 27229169 C A SNP TCF23 NM_175769 human genbank 54_36p +1 provisional missense c.575 p.S192Y 0.015 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH - no_errors TAOK2 9344 genome.wustl.edu 36 16 29910340 29910340 + Missense_Mutation SNP A A T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 16 29910340 29910340 A T SNP TAOK2 NM_004783 human genbank 54_36p +1 validated missense c.3100 p.T1034S 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors PRR14 78994 genome.wustl.edu 36 16 30573811 30573811 + Missense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 16 30573811 30573811 C A SNP PRR14 NM_024031 human genbank 54_36p +1 provisional missense c.1019 p.P340H 0.512 NULL NULL - no_errors PDE1C 5137 genome.wustl.edu 36 7 31829235 31829235 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 7 31829235 31829235 C G SNP PDE1C NM_005020 human genbank 54_36p -1 provisional missense c.1559 p.R520T 0.998 NULL HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors SOD1 6647 genome.wustl.edu 36 21 31960644 31960644 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 21 31960644 31960644 G C SNP SOD1 NM_000454 human genbank 54_36p +1 reviewed missense c.181 p.A61P 1.000 HMMPfam_Sod_Cu,superfamily_CuZn superoxide dismutase-like HMMPfam_Sod_Cu,superfamily_CuZn superoxide dismutase-like,PatternScan_SOD_CU_ZN_1,PatternScan_SOD_CU_ZN_2 - no_errors LOC647211 647211 genome.wustl.edu 36 16 33287555 33287555 + RNA SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 16 33287555 33287555 C A SNP LOC647211 XR_017499 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene PHC2 1912 genome.wustl.edu 36 1 33563164 33563164 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 33563164 33563164 G C SNP PHC2 NM_198040 human genbank 54_36p -1 reviewed missense c.2466 p.D822E 0.994 superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 - no_errors MEIS2 4212 genome.wustl.edu 36 15 35177650 35177650 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 15 35177650 35177650 C G SNP MEIS2 NM_170675 human genbank 54_36p -1 reviewed missense c.55 p.V19L 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox - no_errors IL7R 3575 genome.wustl.edu 36 5 35907061 35907061 + Missense_Mutation SNP A A T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 5 35907061 35907061 A T SNP IL7R NM_002185 human genbank 54_36p +1 reviewed missense c.526 p.N176Y 0.641 superfamily_Fibronectin type III,HMMPfam_fn3 superfamily_Fibronectin type III,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1 - no_errors KIAA0406 9675 genome.wustl.edu 36 20 36073502 36073502 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 20 36073502 36073502 G C SNP KIAA0406 NM_014657 human genbank 54_36p -1 predicted missense c.2131 p.L711V 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EML4 27436 genome.wustl.edu 36 2 42343854 42343854 + Missense_Mutation SNP A A G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 42343854 42343854 A G SNP EML4 NM_019063 human genbank 54_36p +1 validated missense c.545 p.H182R 0.990 NULL HMMPfam_HELP,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_EF_HAND_1,PatternScan_TRYPSIN_SER,PatternScan_WD_REPEATS_1,PatternScan_HIS_ACID_PHOSPHAT_2 - no_errors CASC4 113201 genome.wustl.edu 36 15 42411543 42411543 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 15 42411543 42411543 C G SNP CASC4 NM_138423 human genbank 54_36p +1 reviewed missense c.551 p.A184G 1.000 NULL NULL - no_errors NKTR 4820 genome.wustl.edu 36 3 42655202 42655202 + Missense_Mutation SNP A A G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 3 42655202 42655202 A G SNP NKTR NM_005385 human genbank 54_36p +1 reviewed missense c.3002 p.K1001R 1.000 NULL superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 - no_errors GABRA4 2557 genome.wustl.edu 36 4 46671078 46671078 + Nonsense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 4 46671078 46671078 C A SNP GABRA4 NM_000809 human genbank 54_36p -1 reviewed nonsense c.649 p.E217* 1.000 superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_errors KIAA0494 9813 genome.wustl.edu 36 1 46934857 46934857 + Missense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 46934857 46934857 C A SNP KIAA0494 NM_014774 human genbank 54_36p -1 validated missense c.532 p.A178S 0.999 NULL PatternScan_EF_HAND_1 - no_errors PSG1 5669 genome.wustl.edu 36 19 48067788 48067788 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 19 48067788 48067788 C T SNP PSG1 NM_006905 human genbank 54_36p -1 provisional missense c.680 p.R227H 0.005 superfamily_Immunoglobulin,HMMSmart_SM00409 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors USP8 9101 genome.wustl.edu 36 15 48556895 48556895 + Silent SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 15 48556895 48556895 G A SNP USP8 NM_005154 human genbank 54_36p +1 validated silent c.1125 p.L375 0.001 NULL HMMPfam_DUF1873,superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors KCNRG 283518 genome.wustl.edu 36 13 49487817 49487817 + Missense_Mutation SNP G G T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 13 49487817 49487817 G T SNP KCNRG NM_173605 human genbank 54_36p +1 validated missense c.187 p.D63Y 1.000 superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra - no_errors BCL3 602 genome.wustl.edu 36 19 49952207 49952207 + Missense_Mutation SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 19 49952207 49952207 G A SNP BCL3 NM_005178 human genbank 54_36p +1 reviewed missense c.589 p.G197S 1.000 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors C18orf26 284254 genome.wustl.edu 36 18 50413334 50413334 + Splice_Site SNP T T A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 18 50413334 50413334 T A SNP C18orf26 NM_173629 human genbank 54_36p +1 predicted splice_site c.300+2 e2+2 0.917 - - - no_errors ABHD14A 25864 genome.wustl.edu 36 3 51989974 51989974 + Missense_Mutation SNP A A T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 3 51989974 51989974 A T SNP ABHD14A NM_015407 human genbank 54_36p +1 provisional missense c.716 p.H239L 0.994 superfamily_SSF53474 superfamily_SSF53474 - no_errors SSRP1 6749 genome.wustl.edu 36 11 56854175 56854175 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 11 56854175 56854175 G C SNP SSRP1 NM_003146 human genbank 54_36p -1 reviewed missense c.1449 p.N483K 0.997 NULL HMMPfam_SSrecog,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors MIRN512-2 0 genome.wustl.edu 36 19 58864232 58864232 + RNA SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 19 58864232 58864232 C T SNP MIRN512-2 ENST00000384912 human ensembl 54_36p +1 known rna NULL NULL 0.562 - - - no_errors PUS10 150962 genome.wustl.edu 36 2 61028697 61028697 + Missense_Mutation SNP T T G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 61028697 61028697 T G SNP PUS10 NM_144709 human genbank 54_36p -1 validated missense c.1436 p.K479T 1.000 NULL NULL - no_errors NLRP13 126204 genome.wustl.edu 36 19 61105368 61105368 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 19 61105368 61105368 C G SNP NLRP13 NM_176810 human genbank 54_36p -1 validated missense c.2634 p.Q878H 0.022 superfamily_SSF52047 superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMPfam_LRR_1 - no_errors SCGB1D1 10648 genome.wustl.edu 36 11 61716219 61716219 + Silent SNP A A C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 11 61716219 61716219 A C SNP SCGB1D1 NM_006552 human genbank 54_36p +1 reviewed silent c.171 p.A57 0.000 HMMPfam_Uteroglobin,superfamily_Secretoglobin,HMMSmart_UTG HMMPfam_Uteroglobin,superfamily_Secretoglobin,HMMSmart_UTG - no_errors SLC22A8 9376 genome.wustl.edu 36 11 62523093 62523093 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 11 62523093 62523093 C G SNP SLC22A8 NM_004254 human genbank 54_36p -1 reviewed missense c.637 p.A213P 0.000 HMMPfam_MFS_1,superfamily_MFS general substrate transporter HMMPfam_MFS_1,superfamily_MFS general substrate transporter,PatternScan_SUGAR_TRANSPORT_1 - no_errors IGHMBP2 3508 genome.wustl.edu 36 11 68457936 68457936 + Missense_Mutation SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 11 68457936 68457936 G A SNP IGHMBP2 NM_002180 human genbank 54_36p +1 reviewed missense c.1516 p.E506K 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154 - no_errors RAB3IP 117177 genome.wustl.edu 36 12 68493013 68493013 + Nonsense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 12 68493013 68493013 C G SNP RAB3IP NM_175625 human genbank 54_36p +1 validated nonsense c.1181 p.S394* 1.000 NULL HMMPfam_Sec2p - no_errors CSN2 1447 genome.wustl.edu 36 4 70861258 70861258 + Silent SNP T T G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 4 70861258 70861258 T G SNP CSN2 NM_001891 human genbank 54_36p -1 validated silent c.45 p.A15 0.990 PatternScan_CASEIN_ALPHA_BETA PatternScan_CASEIN_ALPHA_BETA,HMMPfam_Casein - no_errors LOC392232 0 genome.wustl.edu 36 8 73312881 73312881 + RNA SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 8 73312881 73312881 C T SNP LOC392232 XR_037363 human genbank 54_36p -1 model rna NULL NULL 0.998 - - - no_errors DUSP13 51207 genome.wustl.edu 36 10 76533750 76533750 + Missense_Mutation SNP C C A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 10 76533750 76533750 C A SNP DUSP13 NM_001007273 human genbank 54_36p -1 reviewed missense c.91 p.A31S 0.045 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1 - no_errors SRI 6717 genome.wustl.edu 36 7 87673736 87673736 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 7 87673736 87673736 C T SNP SRI NM_003130 human genbank 54_36p -1 validated missense c.590 p.S197N 0.941 superfamily_EF-hand superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand - no_errors CCRK 23552 genome.wustl.edu 36 9 89772172 89772172 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 9 89772172 89772172 G C SNP CCRK ENST00000286878 human ensembl 54_36p -1 known missense c.1001 p.P334R 0.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors NAP1L3 4675 genome.wustl.edu 36 X 92814282 92814282 + Missense_Mutation SNP T T G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 X 92814282 92814282 T G SNP NAP1L3 NM_004538 human genbank 54_36p -1 reviewed missense c.678 p.E226D 0.721 HMMPfam_NAP HMMPfam_NAP - no_errors CALCR 799 genome.wustl.edu 36 7 92954217 92954217 + Missense_Mutation SNP A A G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 7 92954217 92954217 A G SNP CALCR NM_001742 human genbank 54_36p -1 validated missense c.13 p.F5L 0.001 NULL superfamily_SSF111418,superfamily_SSF81321,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors ENSG00000187900 0 genome.wustl.edu 36 3 99440015 99440015 + Missense_Mutation SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 3 99440015 99440015 G A SNP ENSG00000187900 ENST00000341450 human ensembl 54_36p +1 known missense c.13 p.G5S 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1 - no_errors SLC12A9 56996 genome.wustl.edu 36 7 100294486 100294486 + Missense_Mutation SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 7 100294486 100294486 G A SNP SLC12A9 NM_020246 human genbank 54_36p +1 validated missense c.851 p.G284E 1.000 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors BHLHB9 80823 genome.wustl.edu 36 X 101892049 101892049 + Missense_Mutation SNP A A C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 X 101892049 101892049 A C SNP BHLHB9 NM_030639 human genbank 54_36p +1 validated missense c.1470 p.L490F 1.000 superfamily_ARM-type_fold,HMMPfam_DUF634 superfamily_ARM-type_fold,HMMPfam_DUF634 - no_errors CDC42BPB 9578 genome.wustl.edu 36 14 102480528 102480528 + Silent SNP A A C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 14 102480528 102480528 A C SNP CDC42BPB NM_006035 human genbank 54_36p -1 reviewed silent c.3861 p.A1287 0.788 HMMPfam_CNH,HMMSmart_CNH superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,HMMPfam_DMPK_coil,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_CNH,HMMSmart_CNH,HMMPfam_PBD,HMMSmart_PBD - no_errors ADSSL1 122622 genome.wustl.edu 36 14 104283763 104283763 + Silent SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 14 104283763 104283763 C T SNP ADSSL1 NM_199165 human genbank 54_36p +1 validated silent c.1446 p.V482 0.988 HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540 HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540,PatternScan_ADENYLOSUCCIN_SYN_2 - no_errors ENSG00000188712 0 genome.wustl.edu 36 9 106524675 106524675 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 9 106524675 106524675 C T SNP ENSG00000188712 ENST00000338236 human ensembl 54_36p +1 known missense c.239 p.P80L 0.001 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors BCAP29 55973 genome.wustl.edu 36 7 107046134 107046134 + Missense_Mutation SNP T T A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 7 107046134 107046134 T A SNP BCAP29 NM_001008405 human genbank 54_36p +1 validated missense c.895 p.Y299N 0.004 NULL HMMPfam_Bap31 - no_errors SART3 9733 genome.wustl.edu 36 12 107454673 107454673 + Missense_Mutation SNP T T C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 12 107454673 107454673 T C SNP SART3 NM_014706 human genbank 54_36p -1 reviewed missense c.1328 p.E443G 1.000 superfamily_TPR-like superfamily_TPR-like,HMMSmart_SM00386,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_Lsm_interact - no_errors MERTK 10461 genome.wustl.edu 36 2 112449509 112449509 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 112449509 112449509 C T SNP MERTK NM_006343 human genbank 54_36p +1 reviewed missense c.1133 p.T378M 0.958 superfamily_FN_III-like superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors FEZF1 389549 genome.wustl.edu 36 7 121731155 121731155 + Missense_Mutation SNP G G T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 7 121731155 121731155 G T SNP FEZF1 NM_001024613 human genbank 54_36p -1 provisional missense c.573 p.H191Q 1.000 NULL HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors OR10S1 219873 genome.wustl.edu 36 11 123353050 123353050 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 11 123353050 123353050 G C SNP OR10S1 NM_001004474 human genbank 54_36p -1 provisional missense c.559 p.H187D 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors ODZ1 10178 genome.wustl.edu 36 X 123925267 123925267 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 X 123925267 123925267 C T SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.17 p.C6Y 1.000 NULL HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat - no_errors RABEPK 10244 genome.wustl.edu 36 9 127009684 127009684 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 9 127009684 127009684 G C SNP RABEPK NM_005833 human genbank 54_36p +1 provisional missense c.74 p.G25A 1.000 superfamily_Galactose oxidase central domain superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,HMMPfam_Kelch_1 - no_errors SAGE1 55511 genome.wustl.edu 36 X 134821028 134821028 + Missense_Mutation SNP A A T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 X 134821028 134821028 A T SNP SAGE1 NM_018666 human genbank 54_36p +1 reviewed missense c.2017 p.T673S 0.015 NULL NULL - no_errors JMJD1B 51780 genome.wustl.edu 36 5 137799276 137799276 + Silent SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 5 137799276 137799276 G A SNP JMJD1B NM_016604 human genbank 54_36p +1 validated silent c.5274 p.L1758 1.000 NULL superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC - no_errors CNGA2 1260 genome.wustl.edu 36 X 150660017 150660017 + Missense_Mutation SNP T T A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 X 150660017 150660017 T A SNP CNGA2 NM_005140 human genbank 54_36p +1 validated missense c.470 p.L157Q 1.000 superfamily_SSF81324 superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 - no_errors MME 4311 genome.wustl.edu 36 3 156316964 156316964 + Missense_Mutation SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 3 156316964 156316964 G A SNP MME NM_000902 human genbank 54_36p +1 reviewed missense c.361 p.V121I 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N" "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors TOMM40L 84134 genome.wustl.edu 36 1 159464104 159464104 + Missense_Mutation SNP G G T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 159464104 159464104 G T SNP TOMM40L NM_032174 human genbank 54_36p +1 validated missense c.331 p.V111F 1.000 HMMPfam_Porin_3 HMMPfam_Porin_3 - no_errors PALLD 23022 genome.wustl.edu 36 4 169839109 169839109 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 4 169839109 169839109 C G SNP PALLD NM_016081 human genbank 54_36p +1 validated missense c.1139 p.A380G 0.996 PatternScan_DEHYDRATASE_SER_THR superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,PatternScan_DEHYDRATASE_SER_THR - no_errors SKIL 6498 genome.wustl.edu 36 3 171561123 171561123 + Missense_Mutation SNP C C G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 3 171561123 171561123 C G SNP SKIL NM_005414 human genbank 54_36p +1 validated missense c.310 p.P104A 0.999 NULL HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain,superfamily_SAND domain-like,HMMPfam_c-SKI_SMAD_bind - no_errors ATF2 1386 genome.wustl.edu 36 2 175691295 175691295 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 175691295 175691295 C T SNP ATF2 NM_001880 human genbank 54_36p -1 reviewed missense c.248 p.G83D 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC - no_errors TTC14 151613 genome.wustl.edu 36 3 181803806 181803806 + Splice_Site SNP G G T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 3 181803806 181803806 G T SNP TTC14 NM_133462 human genbank 54_36p +1 validated splice_site c.486+1 e3+1 1.000 - - - no_errors MAGEF1 64110 genome.wustl.edu 36 3 185911623 185911623 + Silent SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 3 185911623 185911623 C T SNP MAGEF1 NM_022149 human genbank 54_36p -1 reviewed silent c.681 p.R227 0.346 HMMPfam_MAGE HMMPfam_MAGE - no_errors CALCRL 10203 genome.wustl.edu 36 2 187953440 187953440 + Missense_Mutation SNP T T A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 187953440 187953440 T A SNP CALCRL NM_005795 human genbank 54_36p -1 validated missense c.407 p.K136M 0.986 superfamily_SSF111418,HMMSmart_HormR superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors ABI2 10152 genome.wustl.edu 36 2 204000306 204000306 + Missense_Mutation SNP C C T novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 204000306 204000306 C T SNP ABI2 NM_005759 human genbank 54_36p +1 validated missense c.1414 p.H472Y 1.000 NULL HMMPfam_Abi_HHR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors C1orf107 27042 genome.wustl.edu 36 1 208073212 208073212 + Missense_Mutation SNP T T G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 208073212 208073212 T G SNP C1orf107 NM_014388 human genbank 54_36p +1 validated missense c.448 p.S150A 0.009 NULL HMMPfam_DUF1253 - no_errors TMEM206 55248 genome.wustl.edu 36 1 210619954 210619954 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 210619954 210619954 G C SNP TMEM206 NM_018252 human genbank 54_36p -1 validated missense c.544 p.L182V 1.000 NULL NULL - no_errors C2orf67 151050 genome.wustl.edu 36 2 210727286 210727286 + Missense_Mutation SNP A A G novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 210727286 210727286 A G SNP C2orf67 NM_152519 human genbank 54_36p -1 validated missense c.266 p.L89S 0.658 NULL NULL - no_errors CYP27A1 1593 genome.wustl.edu 36 2 219387382 219387382 + Missense_Mutation SNP T T C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 219387382 219387382 T C SNP CYP27A1 NM_000784 human genbank 54_36p +1 reviewed missense c.1220 p.I407T 0.000 superfamily_Cytochrome P450,HMMPfam_p450 superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 - no_errors CCDC108 255101 genome.wustl.edu 36 2 219586261 219586261 + Silent SNP G G A novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 219586261 219586261 G A SNP CCDC108 NM_194302 human genbank 54_36p -1 provisional silent c.3921 p.I1307 0.999 NULL PatternScan_MGMT,superfamily_PapD-like - no_errors GPR137B 7107 genome.wustl.edu 36 1 234372734 234372734 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 1 234372734 234372734 G C SNP GPR137B NM_003272 human genbank 54_36p +1 validated missense c.189 p.Q63H 1.000 NULL NULL - no_errors ANO7 50636 genome.wustl.edu 36 2 241811350 241811350 + Missense_Mutation SNP G G C novel unknown TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d8e8601-0a6f-4494-8c94-178b53470efe 42baf4ec-a6a6-448d-8c7b-4a7dd2542219 2 241811350 241811350 G C SNP ANO7 NM_001001891 human genbank 54_36p +1 validated missense c.2560 p.V854L 0.965 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors