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 KANK1 23189 genome.wustl.edu 36 9 720134 720134 + Missense_Mutation SNP G G C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 9 720134 720134 G C SNP KANK1 NM_015158 human genbank 54_36p +1 reviewed missense c.2782 p.E928Q 0.069 superfamily_ANK superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors PDYN 5173 genome.wustl.edu 36 20 1909029 1909029 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 20 1909029 1909029 C A SNP PDYN NM_024411 human genbank 54_36p -1 reviewed missense c.705 p.K235N 1.000 NULL HMMPfam_Opiods_neuropep,PatternScan_OPIOIDS_PRECURSOR - no_errors FBXO18 84893 genome.wustl.edu 36 10 5988338 5988338 + Nonsense_Mutation SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 10 5988338 5988338 C T SNP FBXO18 NM_032807 human genbank 54_36p +1 reviewed nonsense c.643 p.Q215* 0.000 NULL superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52540 - no_errors VWF 7450 genome.wustl.edu 36 12 5991107 5991107 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 12 5991107 5991107 A T SNP VWF NM_000552 human genbank 54_36p -1 reviewed missense c.5779 p.C1927S 0.997 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_VWC,PatternScan_VWFC_1,HMMSmart_SM00041,PatternScan_CTCK_1 - no_errors ENSG00000180913 0 genome.wustl.edu 36 11 6106760 6106760 + Silent SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 11 6106760 6106760 C T SNP ENSG00000180913 ENST00000316517 human ensembl 54_36p +1 known silent c.345 p.F115 0.040 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7517821 7517821 + Missense_Mutation SNP T T A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 17 7517821 7517821 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.842 p.D281V 1.000 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 KIAA0802 23255 genome.wustl.edu 36 18 8786300 8786300 + Missense_Mutation SNP C C G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 18 8786300 8786300 C G SNP KIAA0802 NM_015210 human genbank 54_36p +1 predicted missense c.2081 p.T694S 0.575 NULL NULL - no_errors A2M 2 genome.wustl.edu 36 12 9134312 9134312 + Missense_Mutation SNP G G T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 12 9134312 9134312 G T SNP A2M NM_000014 human genbank 54_36p -1 reviewed missense c.2503 p.L835I 0.837 NULL PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep - no_errors COL5A3 50509 genome.wustl.edu 36 19 9965340 9965340 + Silent SNP A A C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 19 9965340 9965340 A C SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed silent c.1650 p.R550 0.994 HMMPfam_Collagen HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors TSPAN16 26526 genome.wustl.edu 36 19 11269870 11269870 + Missense_Mutation SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 19 11269870 11269870 C T SNP TSPAN16 NM_012466 human genbank 54_36p +1 reviewed missense c.122 p.A41V 0.005 HMMPfam_Tetraspannin PatternScan_TM4_1,HMMPfam_Tetraspannin,superfamily_Tetraspanin - no_errors CTNND2 1501 genome.wustl.edu 36 5 11464708 11464708 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 5 11464708 11464708 A T SNP CTNND2 NM_001332 human genbank 54_36p -1 validated missense c.379 p.C127S 1.000 NULL superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 - no_errors BOD1L 259282 genome.wustl.edu 36 4 13226184 13226184 + Nonsense_Mutation SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 4 13226184 13226184 G A SNP BOD1L NM_148894 human genbank 54_36p -1 validated nonsense c.409 p.Q137* 1.000 superfamily_SSF81995 superfamily_SSF81995,HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors ATXN3L 92552 genome.wustl.edu 36 X 13247899 13247899 + Missense_Mutation SNP C C G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 X 13247899 13247899 C G SNP ATXN3L ENST00000380622 human ensembl 54_36p -1 known missense c.76 p.E26Q 1.000 HMMPfam_Josephin HMMPfam_Josephin,HMMPfam_UIM,HMMSmart_UIM - no_errors CYP4F22 126410 genome.wustl.edu 36 19 15501576 15501576 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 19 15501576 15501576 C A SNP CYP4F22 NM_173483 human genbank 54_36p +1 reviewed missense c.279 p.H93Q 0.000 superfamily_Cytochrome_P450,HMMPfam_p450 superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 - no_errors KIAA0430 9665 genome.wustl.edu 36 16 15603385 15603385 + Silent SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 16 15603385 15603385 G A SNP KIAA0430 NM_014647 human genbank 54_36p -1 validated silent c.4590 p.H1530 0.663 NULL HMMPfam_DUF537,superfamily_RNA-binding domain RBD,HMMSmart_SM00360 - no_errors SEC23B 10483 genome.wustl.edu 36 20 18489310 18489310 + Missense_Mutation SNP A A C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 20 18489310 18489310 A C SNP SEC23B NM_006363 human genbank 54_36p +1 reviewed missense c.2230 p.I744L 1.000 superfamily_SSF82754 superfamily_SSF81995,superfamily_Znf_Sec23_Sec24,HMMPfam_zf-Sec23_Sec24,HMMPfam_Sec23_trunk,superfamily_SSF53300,HMMPfam_Sec23_BS,superfamily_Sec23_helical,HMMPfam_Sec23_helical,superfamily_SSF82754,HMMPfam_Gelsolin - no_errors TUBGCP5 114791 genome.wustl.edu 36 15 20406624 20406624 + Missense_Mutation SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 15 20406624 20406624 G A SNP TUBGCP5 NM_001102610 human genbank 54_36p +1 validated missense c.1644 p.M548I 1.000 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors C20orf74 57186 genome.wustl.edu 36 20 20434158 20434158 + Missense_Mutation SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 20 20434158 20434158 G A SNP C20orf74 NM_020343 human genbank 54_36p -1 validated missense c.4949 p.A1650V 1.000 superfamily_Rap/Ran-GAP (Pfam 02145) superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20794958 20794958 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 12 20794958 20794958 A T SNP SLCO1C1 NM_017435 human genbank 54_36p +1 reviewed missense c.1881 p.R627S 0.996 superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2 - no_errors DNAH11 8701 genome.wustl.edu 36 7 21744945 21744945 + Missense_Mutation SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 7 21744945 21744945 G A SNP DNAH11 ENST00000328843 human ensembl 54_36p +1 known missense c.7768 p.V2590M 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382 HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy - no_errors CEBPE 1053 genome.wustl.edu 36 14 22656783 22656783 + Missense_Mutation SNP A A C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 14 22656783 22656783 A C SNP CEBPE NM_001805 human genbank 54_36p -1 reviewed missense c.599 p.V200G 1.000 NULL PatternScan_BZIP_BASIC,HMMSmart_BRLZ,HMMPfam_bZIP_2 - no_errors INTS9 55756 genome.wustl.edu 36 8 28772963 28772963 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 8 28772963 28772963 C A SNP INTS9 NM_018250 human genbank 54_36p -1 validated missense c.46 p.V16L 1.000 NULL NULL - no_errors MAGEB4 4115 genome.wustl.edu 36 X 30171067 30171067 + Silent SNP T T C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 X 30171067 30171067 T C SNP MAGEB4 NM_002367 human genbank 54_36p +1 reviewed silent c.894 p.N298 0.000 NULL HMMPfam_MAGE - no_errors LYPLA2P1 653639 genome.wustl.edu 36 6 33441497 33441497 + RNA SNP T T C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 6 33441497 33441497 T C SNP LYPLA2P1 NR_001444 human genbank 54_36p -1 provisional rna NULL NULL 0.887 - - - pseudogene NFS1 9054 genome.wustl.edu 36 20 33726396 33726396 + Silent SNP T T G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 20 33726396 33726396 T G SNP NFS1 NM_021100 human genbank 54_36p -1 reviewed silent c.933 p.A311 1.000 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5,PatternScan_AA_TRANSFER_CLASS_5 - no_errors FAM47A 158724 genome.wustl.edu 36 X 34058721 34058721 + Silent SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 X 34058721 34058721 C T SNP FAM47A NM_203408 human genbank 54_36p -1 predicted silent c.1596 p.P532 0.000 NULL NULL - no_errors CCIN 881 genome.wustl.edu 36 9 36159916 36159916 + Missense_Mutation SNP G G T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 9 36159916 36159916 G T SNP CCIN NM_005893 human genbank 54_36p +1 reviewed missense c.417 p.L139F 1.000 HMMPfam_BACK superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1,PatternScan_MULTICOPPER_OXIDASE1 - no_errors BRCA1 672 genome.wustl.edu 36 17 38509775 38509775 + Nonsense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 17 38509775 38509775 C A SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed nonsense c.331 p.E111* 0.139 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain - no_errors ATXN7L3 0 genome.wustl.edu 36 17 39630538 39630538 + Silent SNP G G C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 17 39630538 39630538 G C SNP ATXN7L3 NM_020218 human genbank 54_36p -1 validated silent c.138 p.G46 1.000 NULL HMMPfam_Sgf11,HMMPfam_SCA7 - no_errors uc010eei.1 0 genome.wustl.edu 36 19 40902543 40902543 + Missense_Mutation SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 19 40902543 40902543 C T SNP uc010eei.1 ENST00000222270 human ensembl 54_36p +1 known missense c.454 p.R152W 1.000 NULL HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors C17orf57 124989 genome.wustl.edu 36 17 42823909 42823909 + Missense_Mutation SNP G G C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 17 42823909 42823909 G C SNP C17orf57 NM_152347 human genbank 54_36p +1 predicted missense c.1690 p.E564Q 0.752 superfamily_EF-hand superfamily_EF-hand - no_errors SEMG2 6407 genome.wustl.edu 36 20 43284354 43284354 + Missense_Mutation SNP G G C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 20 43284354 43284354 G C SNP SEMG2 NM_003008 human genbank 54_36p +1 reviewed missense c.667 p.V223L 0.007 HMMPfam_Semenogelin HMMPfam_Semenogelin - no_errors DNAJC22 79962 genome.wustl.edu 36 12 48031525 48031525 + Silent SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 12 48031525 48031525 C T SNP DNAJC22 NM_024902 human genbank 54_36p +1 provisional silent c.999 p.P333 0.007 superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ PatternScan_DNAJ_1,superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ - no_errors C6orf138 442213 genome.wustl.edu 36 6 48084618 48084618 + Silent SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 6 48084618 48084618 C T SNP C6orf138 NM_001013732 human genbank 54_36p -1 validated silent c.567 p.Q189 1.000 HMMPfam_Patched,superfamily_SSF82866 HMMPfam_Patched,superfamily_SSF82866 - no_errors PTPRJ 5795 genome.wustl.edu 36 11 48142630 48142630 + Missense_Mutation SNP T T A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 11 48142630 48142630 T A SNP PTPRJ NM_002843 human genbank 54_36p +1 reviewed missense c.3842 p.M1281K 1.000 superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1 - no_errors FAM186B 84070 genome.wustl.edu 36 12 48281001 48281001 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 12 48281001 48281001 A T SNP FAM186B NM_032130 human genbank 54_36p -1 predicted missense c.689 p.V230D 0.271 NULL NULL - no_errors CACNA1F 778 genome.wustl.edu 36 X 48962762 48962762 + Missense_Mutation SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 X 48962762 48962762 C T SNP CACNA1F NM_005183 human genbank 54_36p -1 reviewed missense c.2668 p.A890T 1.000 superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors SHROOM4 57477 genome.wustl.edu 36 X 50398001 50398001 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 X 50398001 50398001 A T SNP SHROOM4 NM_020717 human genbank 54_36p -1 reviewed missense c.317 p.L106Q 1.000 NULL superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2 - no_errors KRT2 3849 genome.wustl.edu 36 12 51325479 51325479 + Missense_Mutation SNP G G T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 12 51325479 51325479 G T SNP KRT2 NM_000423 human genbank 54_36p -1 reviewed missense c.1511 p.T504K 0.702 NULL HMMPfam_Filament,PatternScan_IF - no_errors CCDC70 83446 genome.wustl.edu 36 13 51337769 51337769 + Missense_Mutation SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 13 51337769 51337769 G A SNP CCDC70 NM_031290 human genbank 54_36p +1 validated missense c.254 p.G85D 0.070 NULL NULL - no_errors PSME4 23198 genome.wustl.edu 36 2 54018057 54018057 + Missense_Mutation SNP G G C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 2 54018057 54018057 G C SNP PSME4 NM_014614 human genbank 54_36p -1 validated missense c.328 p.P110A 1.000 NULL superfamily_ARM repeat,HMMPfam_HEAT - no_errors HMGB1L1 10357 genome.wustl.edu 36 20 55497419 55497419 + Missense_Mutation SNP C C G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 20 55497419 55497419 C G SNP HMGB1L1 NM_001008735 human genbank 54_36p -1 provisional missense c.71 p.R24P 1.000 superfamily_HMG-box,HMMPfam_HMG_box,HMMSmart_HMG PatternScan_HMG_BOX_1,superfamily_HMG-box,HMMPfam_HMG_box,HMMSmart_HMG - no_errors KIF5A 3798 genome.wustl.edu 36 12 56243532 56243532 + Missense_Mutation SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 12 56243532 56243532 C T SNP KIF5A NM_004984 human genbank 54_36p +1 reviewed missense c.173 p.T58I 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_Prefoldin - no_errors DTX3 196403 genome.wustl.edu 36 12 56287252 56287252 + Silent SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 12 56287252 56287252 G A SNP DTX3 NM_178502 human genbank 54_36p +1 provisional silent c.339 p.E113 0.997 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors DST 667 genome.wustl.edu 36 6 56580925 56580925 + Missense_Mutation SNP C C G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 6 56580925 56580925 C G SNP DST NM_020388 human genbank 54_36p -1 reviewed missense c.4849 p.E1617Q 0.961 NULL HMMSmart_SM00150,superfamily_Spectrin repeat,HMMPfam_Spectrin,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin,PatternScan_RIBOSOMAL_L23 - no_errors GTPBP5 26164 genome.wustl.edu 36 20 60209150 60209150 + Silent SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 20 60209150 60209150 C T SNP GTPBP5 NM_015666 human genbank 54_36p +1 validated silent c.843 p.G281 0.137 HMMPfam_MMR_HSR1,superfamily_SSF52540 superfamily_GTP1_OBG_sub,HMMPfam_GTP1_OBG,HMMPfam_MMR_HSR1,superfamily_SSF52540 - no_errors RGS9 8787 genome.wustl.edu 36 17 60637163 60637163 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 17 60637163 60637163 C A SNP RGS9 NM_003835 human genbank 54_36p +1 validated missense c.1385 p.A462D 1.000 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_Transducin (heterotrimeric G protein) gamma chain,HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" - no_errors ZSCAN5B 342933 genome.wustl.edu 36 19 61396143 61396143 + Missense_Mutation SNP T T A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 19 61396143 61396143 T A SNP ZSCAN5B ENST00000358992 human ensembl 54_36p -1 known missense c.91 p.T31S 0.001 NULL HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors USP29 57663 genome.wustl.edu 36 19 62332826 62332826 + Missense_Mutation SNP C C G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 19 62332826 62332826 C G SNP USP29 NM_020903 human genbank 54_36p +1 validated missense c.971 p.P324R 0.209 superfamily_SSF54001,HMMPfam_UCH superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors ZSCAN22 342945 genome.wustl.edu 36 19 63541726 63541726 + Missense_Mutation SNP G G T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 19 63541726 63541726 G T SNP ZSCAN22 NM_181846 human genbank 54_36p +1 validated missense c.698 p.W233L 0.001 NULL HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors SPRED2 200734 genome.wustl.edu 36 2 65412641 65412641 + Missense_Mutation SNP T T C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 2 65412641 65412641 T C SNP SPRED2 NM_181784 human genbank 54_36p -1 validated missense c.422 p.D141G 1.000 NULL HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like,HMMPfam_Sprouty - no_errors LMOD3 56203 genome.wustl.edu 36 3 69254081 69254081 + Silent SNP G G C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 3 69254081 69254081 G C SNP LMOD3 NM_198271 human genbank 54_36p -1 validated silent c.147 p.P49 0.789 NULL HMMPfam_Tropomodulin,superfamily_RNI-like,HMMPfam_WH2 - no_errors LOC100132362 0 genome.wustl.edu 36 11 71051082 71051082 + RNA SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 11 71051082 71051082 C A SNP LOC100132362 XR_042359 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene C4orf35 85438 genome.wustl.edu 36 4 71236025 71236025 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 4 71236025 71236025 C A SNP C4orf35 NM_033122 human genbank 54_36p +1 validated missense c.680 p.T227N 0.971 NULL NULL - no_errors CYP11A1 1583 genome.wustl.edu 36 15 72417463 72417463 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 15 72417463 72417463 A T SNP CYP11A1 NM_000781 human genbank 54_36p -1 reviewed missense c.1469 p.L490H 0.001 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors ADNP2 22850 genome.wustl.edu 36 18 75995457 75995457 + Silent SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 18 75995457 75995457 C T SNP ADNP2 NM_014913 human genbank 54_36p +1 validated silent c.1170 p.L390 0.972 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00389 - no_errors ANGEL1 23357 genome.wustl.edu 36 14 76342598 76342598 + Missense_Mutation SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 14 76342598 76342598 C T SNP ANGEL1 NM_015305 human genbank 54_36p -1 validated missense c.1294 p.G432R 1.000 HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos - no_errors NRXN3 9369 genome.wustl.edu 36 14 78816513 78816513 + Silent SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 14 78816513 78816513 C T SNP NRXN3 NM_001105250 human genbank 54_36p +1 reviewed silent c.126 p.S42 1.000 NULL superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMSmart_4.1m - no_errors uc001pda.1 0 genome.wustl.edu 36 11 89031513 89031513 + Missense_Mutation SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 11 89031513 89031513 G A SNP uc001pda.1 ENST00000389724 human ensembl 54_36p +1 known missense c.532 p.G178R 1.000 superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer - no_start_codon CTSL1 1514 genome.wustl.edu 36 9 89533359 89533359 + Missense_Mutation SNP G G T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 9 89533359 89533359 G T SNP CTSL1 NM_001912 human genbank 54_36p +1 reviewed missense c.436 p.A146S 0.977 superfamily_SSF54001,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1 superfamily_SSF54001,HMMPfam_Inhibitor_I29,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN - no_errors MOAP1 64112 genome.wustl.edu 36 14 92719837 92719837 + Missense_Mutation SNP G G T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 14 92719837 92719837 G T SNP MOAP1 NM_022151 human genbank 54_36p -1 reviewed missense c.504 p.F168L 1.000 NULL NULL - no_errors MUC17 140453 genome.wustl.edu 36 7 100464650 100464650 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 7 100464650 100464650 A T SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional missense c.3233 p.Q1078L 0.358 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors ZFPM2 23414 genome.wustl.edu 36 8 106880321 106880321 + Silent SNP A A C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 8 106880321 106880321 A C SNP ZFPM2 NM_012082 human genbank 54_36p +1 reviewed silent c.933 p.R311 0.998 HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors VAV3 10451 genome.wustl.edu 36 1 108219059 108219059 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 1 108219059 108219059 C A SNP VAV3 NM_006113 human genbank 54_36p -1 reviewed missense c.308 p.R103L 1.000 HMMPfam_CH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033 HMMPfam_CH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMPfam_SH3_1 - no_errors SARS 6301 genome.wustl.edu 36 1 109558271 109558271 + Missense_Mutation SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 1 109558271 109558271 G A SNP SARS NM_006513 human genbank 54_36p +1 reviewed missense c.134 p.R45Q 1.000 HMMPfam_Seryl_tRNA_N,superfamily_tRNA-binding arm HMMPfam_Seryl_tRNA_N,superfamily_tRNA-binding arm,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b - no_errors GPAM 57678 genome.wustl.edu 36 10 113907005 113907005 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 10 113907005 113907005 A T SNP GPAM NM_020918 human genbank 54_36p -1 validated missense c.2113 p.Y705N 1.000 NULL superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC - no_errors GOLGB1 2804 genome.wustl.edu 36 3 122898143 122898143 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 3 122898143 122898143 C A SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.3902 p.G1301V 0.000 NULL superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340 - no_errors FAT4 79633 genome.wustl.edu 36 4 126628049 126628049 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 4 126628049 126628049 A T SNP FAT4 NM_024582 human genbank 54_36p +1 validated missense c.12745 p.T4249S 0.997 superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF - no_errors DBH 1621 genome.wustl.edu 36 9 135497252 135497252 + Missense_Mutation SNP C C T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 9 135497252 135497252 C T SNP DBH NM_000787 human genbank 54_36p +1 reviewed missense c.589 p.L197F 1.000 HMMSmart_DoH,superfamily_PHM_PNGase_F,HMMPfam_Cu2_monooxygen HMMSmart_DoH,HMMPfam_DOMON,superfamily_PHM_PNGase_F,HMMPfam_Cu2_monooxygen,PatternScan_CU2_MONOOXYGENASE_1,HMMPfam_Cu2_monoox_C,PatternScan_CU2_MONOOXYGENASE_2 - no_errors BRD8 10902 genome.wustl.edu 36 5 137525730 137525730 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 5 137525730 137525730 C A SNP BRD8 NM_139199 human genbank 54_36p -1 reviewed missense c.2092 p.V698F 0.998 superfamily_Bromodomain superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors MAGEC1 9947 genome.wustl.edu 36 X 140824132 140824132 + Silent SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 X 140824132 140824132 G A SNP MAGEC1 NM_005462 human genbank 54_36p +1 reviewed silent c.3276 p.K1092 0.000 NULL HMMPfam_MAGE - no_errors PIP 5304 genome.wustl.edu 36 7 142542482 142542482 + Missense_Mutation SNP G G A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 7 142542482 142542482 G A SNP PIP NM_002652 human genbank 54_36p +1 validated missense c.169 p.A57T 0.000 HMMPfam_SVA HMMPfam_SVA - no_errors ABLIM3 22885 genome.wustl.edu 36 5 148599529 148599529 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 5 148599529 148599529 C A SNP ABLIM3 NM_014945 human genbank 54_36p +1 validated missense c.1089 p.N363K 0.985 NULL HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153 - no_errors SPARC 6678 genome.wustl.edu 36 5 151035920 151035920 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 5 151035920 151035920 A T SNP SPARC NM_003118 human genbank 54_36p -1 provisional missense c.23 p.L8H 1.000 NULL superfamily_EGF/Laminin,HMMSmart_SM00274,HMMPfam_FOLN,PatternScan_OSTEONECTIN_1,HMMSmart_SM00280,HMMPfam_Kazal_1,superfamily_Kazal-type serine protease inhibitors,HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand,PatternScan_OSTEONECTIN_2,PatternScan_EF_HAND_1 - no_errors LCE1D 353134 genome.wustl.edu 36 1 151036938 151036938 + Missense_Mutation SNP A A G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 1 151036938 151036938 A G SNP LCE1D NM_178352 human genbank 54_36p +1 validated missense c.44 p.K15R 0.999 NULL NULL - no_errors PRPF40A 55660 genome.wustl.edu 36 2 153237763 153237763 + Missense_Mutation SNP T T C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 2 153237763 153237763 T C SNP PRPF40A NM_017892 human genbank 54_36p -1 validated missense c.1180 p.M394V 1.000 superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF - no_errors BCAN 63827 genome.wustl.edu 36 1 154887914 154887914 + Missense_Mutation SNP C C G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 1 154887914 154887914 C G SNP BCAN NM_021948 human genbank 54_36p +1 validated missense c.1106 p.A369G 0.002 NULL HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406,PatternScan_IG_MHC,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors ODZ2 57451 genome.wustl.edu 36 5 167558477 167558477 + Missense_Mutation SNP A A T novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 5 167558477 167558477 A T SNP ODZ2 ENST00000388903 human ensembl 54_36p +1 known missense c.2942 p.H981L 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain HMMPfam_Ten_N,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain,superfamily_NHL repeat,HMMPfam_NHL,HMMPfam_RHS_repeat - no_errors NEK1 4750 genome.wustl.edu 36 4 170564388 170564388 + Missense_Mutation SNP T T C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 4 170564388 170564388 T C SNP NEK1 NM_012224 human genbank 54_36p -1 validated missense c.3224 p.D1075G 0.997 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors LOC100128266 0 genome.wustl.edu 36 4 174791984 174791984 + RNA SNP A A G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 4 174791984 174791984 A G SNP LOC100128266 XR_037888 human genbank 54_36p -1 model rna NULL NULL 0.019 - - - pseudogene N4BP3 23138 genome.wustl.edu 36 5 177480073 177480073 + Missense_Mutation SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 5 177480073 177480073 C A SNP N4BP3 NM_015111 human genbank 54_36p +1 validated missense c.619 p.P207T 0.980 NULL HMMPfam_Fez1 - no_errors RNF130 55819 genome.wustl.edu 36 5 179337846 179337846 + Missense_Mutation SNP A A G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 5 179337846 179337846 A G SNP RNF130 NM_018434 human genbank 54_36p -1 reviewed missense c.811 p.Y271H 1.000 superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 PatternScan_ZF_RING_1,superfamily_SSF52025,HMMPfam_PA,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 - no_errors KCNMB3 27094 genome.wustl.edu 36 3 180451406 180451406 + Missense_Mutation SNP G G C novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 3 180451406 180451406 G C SNP KCNMB3 NM_014407 human genbank 54_36p -1 reviewed missense c.79 p.P27A 0.003 NULL PatternScan_PPASE,HMMPfam_CaKB - no_errors TARBP1 6894 genome.wustl.edu 36 1 232623123 232623123 + Missense_Mutation SNP A A G novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 1 232623123 232623123 A G SNP TARBP1 NM_005646 human genbank 54_36p -1 reviewed missense c.3503 p.V1168A 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase - no_errors KMO 8564 genome.wustl.edu 36 1 239821973 239821973 + Silent SNP C C A novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 1 239821973 239821973 C A SNP KMO NM_003679 human genbank 54_36p +1 validated silent c.1356 p.R452 0.005 NULL superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO - no_errors ENSG00000216102 0 genome.wustl.edu 36 19 9792254 9792263 + RNA DEL ATATACACAC ATATACACAC - novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 ATATACACAC ATATACACAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 19 9792254 9792263 ATATACACAC - DEL ENSG00000216102 ENST00000401283 human ensembl 54_36p +1 novel rna NULL NULL 0.000:0.000:0.000:0.001:0.001:0.001:0.001:0.000:0.001:0.000 - - (deletion:rna[9792204,9792281]) no_errors GPRC5B 51704 genome.wustl.edu 36 16 19791297 19791305 + In_Frame_Del DEL GACAGAGCA GACAGAGCA - novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 GACAGAGCA GACAGAGCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 16 19791297 19791305 GACAGAGCA - DEL GPRC5B NM_016235 human genbank 54_36p -1 reviewed in_frame_del c.372_364 p.CSV122in_frame_del 0.010:0.007:0.001:0.000:0.847:0.971:0.997:1.000:1.000 HMMPfam_7tm_3 PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_7tm_3 (deletion:cds_exon[19790639,19791668]) no_errors CELSR2 1952 genome.wustl.edu 36 1 109594871 109594872 + Frame_Shift_Del DEL TG TG - novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 1 109594871 109594872 TG - DEL CELSR2 NM_001408 human genbank 54_36p +1 reviewed frame_shift_del c.647_648 p.L216fs 1.000:0.998 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMSmart_TNFR,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMSmart_HormR,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2 (deletion:cds_exon[109594225,109597534]) no_errors ENSG00000201699 0 genome.wustl.edu 36 1 143245544 143245545 + RNA DEL CG CG - novel unknown TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 CG CG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 57a6aa0e-360f-4715-aa71-64ac651cdd40 b78b51da-368f-4bbd-8c53-6fd874b4fc13 1 143245544 143245545 CG - DEL ENSG00000201699 ENST00000364829 human ensembl 54_36p +1 known rna NULL NULL 1.000:1.000 - - (deletion:rna[143245395,143245556]) no_errors