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 MT-ATP6 4508 genome.wustl.edu 36 MT 9190 9190 + Silent SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 MT 9190 9190 C T SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known silent c.663 p.Y221 NULL HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A - no_errors DEFB127 140850 genome.wustl.edu 36 20 86225 86225 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 20 86225 86225 A G SNP DEFB127 NM_139074 human genbank 54_36p +1 reviewed missense c.40 p.K14E 0.642 NULL NULL - no_errors LOC644670 644670 genome.wustl.edu 36 X 147451 147451 + Missense_Mutation SNP C T T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 X 147451 147451 C T SNP LOC644670 XM_497182 human genbank 54_36p +1 model missense c.1856 p.P619L 0.033 NULL superfamily_PLC-like phosphodiesterases - no_start_codon:pseudogene:no_stop_codon TBC1D24 57465 genome.wustl.edu 36 16 2486400 2486400 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 16 2486400 2486400 A G SNP TBC1D24 NM_020705 human genbank 54_36p +1 provisional missense c.250 p.K84E 1.000 HMMSmart_TBC,HMMPfam_TBC HMMSmart_TBC,HMMPfam_TBC,superfamily_RabGAP_TBC,HMMSmart_TLDc,HMMPfam_TLD - no_errors LOC653657 653657 genome.wustl.edu 36 19 7007571 7007571 + Missense_Mutation SNP G G T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 19 7007571 7007571 G T SNP LOC653657 XM_928697 human genbank 54_36p -1 model missense c.389 p.A130D 0.000 NULL NULL - no_errors PTPRD 5789 genome.wustl.edu 36 9 8474340 8474340 + Silent SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 9 8474340 8474340 A G SNP PTPRD NM_002839 human genbank 54_36p -1 reviewed silent c.3192 p.D1064 1.000 HMMSmart_SM00060,superfamily_Fibronectin type III 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 P2RY11 5032 genome.wustl.edu 36 19 10086228 10086228 + Silent SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 19 10086228 10086228 C T SNP P2RY11 NM_002566 human genbank 54_36p +1 reviewed silent c.939 p.A313 0.971 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZNF653 115950 genome.wustl.edu 36 19 11470109 11470109 + Splice_Site SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 19 11470109 11470109 A G SNP ZNF653 NM_138783 human genbank 54_36p -1 provisional splice_site c.343+2 e2+2 1.000 - - - no_errors HIVEP1 3096 genome.wustl.edu 36 6 12232064 12232064 + Silent SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 6 12232064 12232064 C T SNP HIVEP1 NM_002114 human genbank 54_36p +1 validated silent c.4050 p.G1350 0.001 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors OPTN 10133 genome.wustl.edu 36 10 13191189 13191189 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 10 13191189 13191189 G C SNP OPTN NM_001008211 human genbank 54_36p +1 reviewed missense c.61 p.G21R 0.997 NULL NULL - no_errors OR7A17 26333 genome.wustl.edu 36 19 14852670 14852670 + Silent SNP C C G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 19 14852670 14852670 C G SNP OR7A17 NM_030901 human genbank 54_36p -1 provisional silent c.498 p.L166 0.003 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CCT8L2 150160 genome.wustl.edu 36 22 15452827 15452827 + Missense_Mutation SNP A A T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 22 15452827 15452827 A T SNP CCT8L2 NM_014406 human genbank 54_36p -1 validated missense c.614 p.V205E 0.016 superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like - no_errors PTPRO 5800 genome.wustl.edu 36 12 15545987 15545987 + Silent SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 12 15545987 15545987 G A SNP PTPRO NM_030667 human genbank 54_36p +1 reviewed silent c.828 p.S276 0.119 NULL 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 XKR3 150165 genome.wustl.edu 36 22 15660702 15660702 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 22 15660702 15660702 A G SNP XKR3 NM_175878 human genbank 54_36p -1 validated missense c.548 p.M183T 0.998 HMMPfam_XK-related HMMPfam_XK-related - no_errors NOMO3 408050 genome.wustl.edu 36 16 16253370 16253370 + Missense_Mutation SNP A A T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 16 16253370 16253370 A T SNP NOMO3 NM_001004067 human genbank 54_36p +1 reviewed missense c.785 p.D262V 1.000 superfamily_Carboxypeptidase regulatory domain superfamily_Starch-binding domain-like,HMMPfam_Cna_B,superfamily_Carboxypeptidase regulatory domain - no_errors FAM134B 54463 genome.wustl.edu 36 5 16625166 16625166 + Silent SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 5 16625166 16625166 G A SNP FAM134B NM_001034850 human genbank 54_36p -1 validated silent c.366 p.V122 0.983 NULL NULL - no_errors OVOL2 58495 genome.wustl.edu 36 20 17970360 17970360 + Missense_Mutation SNP G C C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 20 17970360 17970360 G C SNP OVOL2 NM_021220 human genbank 54_36p -1 validated missense c.329 p.T110R 0.998 NULL superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors UBA52 7311 genome.wustl.edu 36 19 18545529 18545529 + Missense_Mutation SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 19 18545529 18545529 G A SNP UBA52 NM_001033930 human genbank 54_36p +1 reviewed missense c.161 p.R54H 1.000 HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1,HMMPfam_Ribosomal_L40e - no_errors ASXL2 55252 genome.wustl.edu 36 2 25843954 25843954 + Splice_Site SNP A A T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 2 25843954 25843954 A T SNP ASXL2 NM_018263 human genbank 54_36p -1 validated splice_site c.775+2 e8+2 1.000 - - - no_errors LRRC3B 116135 genome.wustl.edu 36 3 26726806 26726806 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 26726806 26726806 G C SNP LRRC3B NM_052953 human genbank 54_36p +1 provisional missense c.639 p.W213C 1.000 NULL HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP - no_errors ADAMTS1 9510 genome.wustl.edu 36 21 27134548 27134548 + Missense_Mutation SNP C C G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 21 27134548 27134548 C G SNP ADAMTS1 NM_006988 human genbank 54_36p -1 reviewed missense c.1583 p.W528S 1.000 HMMSmart_ACR PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1 - no_errors PTK2B 2185 genome.wustl.edu 36 8 27333386 27333386 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 8 27333386 27333386 G C SNP PTK2B NM_004103 human genbank 54_36p +1 reviewed missense c.262 p.E88Q 1.000 HMMSmart_SM00295 HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMPfam_Focal_AT,superfamily_FAT domain of focal adhesion kinase - no_errors LOC730909 730909 genome.wustl.edu 36 15 28912314 28912314 + Missense_Mutation SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 15 28912314 28912314 C A SNP LOC730909 XM_001718721 human genbank 54_36p +1 model missense c.201 p.D67E 0.997 NULL NULL - no_errors GAL3ST1 9514 genome.wustl.edu 36 22 29281341 29281341 + Missense_Mutation SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 22 29281341 29281341 C A SNP GAL3ST1 NM_004861 human genbank 54_36p -1 reviewed missense c.871 p.G291W 0.098 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors SLC44A4 80736 genome.wustl.edu 36 6 31944925 31944925 + Missense_Mutation SNP A A C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 6 31944925 31944925 A C SNP SLC44A4 NM_025257 human genbank 54_36p -1 validated missense c.1219 p.S407A 0.000 HMMPfam_DUF580 HMMPfam_DUF580 - no_errors ADAMTS12 81792 genome.wustl.edu 36 5 33679334 33679334 + Splice_Site SNP T T C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 5 33679334 33679334 T C SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed splice_site c.1480-2 e10-2 1.000 - - - no_errors PIK3C3 5289 genome.wustl.edu 36 18 37891941 37891941 + Missense_Mutation SNP T T C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 18 37891941 37891941 T C SNP PIK3C3 NM_002647 human genbank 54_36p +1 validated missense c.2360 p.M787T 1.000 superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc HMMSmart_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors EPHA10 284656 genome.wustl.edu 36 1 37958300 37958300 + Silent SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 37958300 37958300 C T SNP EPHA10 NM_001099439 human genbank 54_36p -1 validated silent c.2430 p.A810 0.726 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220 superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 - no_errors GUCA1B 2979 genome.wustl.edu 36 6 42264375 42264375 + Missense_Mutation SNP G G T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 6 42264375 42264375 G T SNP GUCA1B NM_002098 human genbank 54_36p -1 validated missense c.280 p.L94M 1.000 superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors KBTBD5 131377 genome.wustl.edu 36 3 42702994 42702994 + Nonsense_Mutation SNP G T T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 42702994 42702994 G T SNP KBTBD5 NM_152393 human genbank 54_36p +1 validated nonsense c.880 p.E294* 0.605 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,PatternScan_MGMT,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612 - no_errors RSPH1 89765 genome.wustl.edu 36 21 42785950 42785950 + Silent SNP T T G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 21 42785950 42785950 T G SNP RSPH1 NM_080860 human genbank 54_36p -1 validated silent c.261 p.G87 0.995 superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMPfam_MORN HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698 - no_errors MYO5B 4645 genome.wustl.edu 36 18 45644735 45644735 + Missense_Mutation SNP T T G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 18 45644735 45644735 T G SNP MYO5B NM_001080467 human genbank 54_36p -1 provisional missense c.3617 p.E1206A 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL - no_errors SLC12A1 6557 genome.wustl.edu 36 15 46326427 46326427 + Silent SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 15 46326427 46326427 C T SNP SLC12A1 NM_000338 human genbank 54_36p +1 validated silent c.1482 p.P494 0.997 HMMPfam_AA_permease HMMPfam_AA_permease_N,HMMPfam_AA_permease - no_errors COL2A1 1280 genome.wustl.edu 36 12 46665970 46665970 + Missense_Mutation SNP C C G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 12 46665970 46665970 C G SNP COL2A1 NM_001844 human genbank 54_36p -1 reviewed missense c.1573 p.G525R 1.000 HMMPfam_Collagen HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors SMARCC1 6599 genome.wustl.edu 36 3 47677866 47677866 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 47677866 47677866 A G SNP SMARCC1 NM_003074 human genbank 54_36p -1 validated missense c.2242 p.S748P 0.998 NULL superfamily_BRCT,HMMSmart_CHROMO,HMMPfam_SWIRM,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors ZNF630 57232 genome.wustl.edu 36 X 47803410 47803410 + Silent SNP T T C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 X 47803410 47803410 T C SNP ZNF630 NM_001037735 human genbank 54_36p -1 validated silent c.993 p.G331 0.998 superfamily_SSF57667 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TYRL 0 genome.wustl.edu 36 11 49393877 49393877 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 11 49393877 49393877 A G SNP TYRL ENST00000243152 human ensembl 54_36p -1 known missense c.5 p.F2S 1.000 superfamily_Di-copper_centre superfamily_Di-copper_centre - no_start_codon GRASP 160622 genome.wustl.edu 36 12 50690959 50690959 + Missense_Mutation SNP T T A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 12 50690959 50690959 T A SNP GRASP NM_181711 human genbank 54_36p +1 provisional missense c.324 p.D108E 0.875 superfamily_PDZ domain-like,HMMPfam_PDZ superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors WDFY2 115825 genome.wustl.edu 36 13 51228521 51228521 + Missense_Mutation SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 13 51228521 51228521 G A SNP WDFY2 NM_052950 human genbank 54_36p +1 reviewed missense c.986 p.R329H 1.000 superfamily_WD40 repeat-like,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE - no_errors MC3R 4159 genome.wustl.edu 36 20 54257692 54257692 + Missense_Mutation SNP T T A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 20 54257692 54257692 T A SNP MC3R NM_019888 human genbank 54_36p +1 reviewed missense c.497 p.V166E 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors NUP62 23636 genome.wustl.edu 36 19 55103505 55103505 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 19 55103505 55103505 G C SNP NUP62 NM_012346 human genbank 54_36p -1 reviewed missense c.1372 p.L458V 1.000 NULL HMMPfam_Nsp1_C - no_errors DST 667 genome.wustl.edu 36 6 56589978 56589978 + Silent SNP G G T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 6 56589978 56589978 G T SNP DST NM_001723 human genbank 54_36p -1 reviewed silent c.6246 p.V2082 0.000 NULL HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin - no_errors KIAA1211 57482 genome.wustl.edu 36 4 56876453 56876453 + Silent SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 4 56876453 56876453 G C SNP KIAA1211 NM_020722 human genbank 54_36p +1 validated silent c.2028 p.L676 0.920 NULL NULL - no_errors LOC389662 389662 genome.wustl.edu 36 8 57553113 57553113 + RNA SNP C T T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 8 57553113 57553113 C T SNP LOC389662 XR_016813 human genbank 54_36p -1 model rna NULL NULL 0.006 - - - pseudogene ZNF528 84436 genome.wustl.edu 36 19 57610285 57610285 + Missense_Mutation SNP T T G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 19 57610285 57610285 T G SNP ZNF528 NM_032423 human genbank 54_36p +1 validated missense c.368 p.F123C 0.013 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZBTB46 140685 genome.wustl.edu 36 20 61892450 61892450 + Silent SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 20 61892450 61892450 C A SNP ZBTB46 NM_025224 human genbank 54_36p -1 provisional silent c.105 p.V35 0.713 superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NOL11 25926 genome.wustl.edu 36 17 63164742 63164742 + Silent SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 17 63164742 63164742 G A SNP NOL11 NM_015462 human genbank 54_36p +1 provisional silent c.1572 p.E524 0.997 NULL HMMPfam_NUC205 - no_errors EGR2 1959 genome.wustl.edu 36 10 64245690 64245690 + Missense_Mutation SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 10 64245690 64245690 C A SNP EGR2 NM_000399 human genbank 54_36p -1 reviewed missense c.106 p.V36L 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TSGA10IP 254187 genome.wustl.edu 36 11 65471533 65471533 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 11 65471533 65471533 G C SNP TSGA10IP NM_152762 human genbank 54_36p +1 validated missense c.661 p.G221R 0.003 NULL NULL - pseudogene TSEN54 283989 genome.wustl.edu 36 17 71029174 71029174 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 17 71029174 71029174 G C SNP TSEN54 NM_207346 human genbank 54_36p +1 validated missense c.611 p.S204T 0.971 NULL NULL - no_errors ZNF638 27332 genome.wustl.edu 36 2 71430860 71430860 + Missense_Mutation SNP T T A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 2 71430860 71430860 T A SNP ZNF638 NM_001014972 human genbank 54_36p +1 reviewed missense c.1268 p.I423K 1.000 HMMSmart_SM00451 HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors MAP1B 4131 genome.wustl.edu 36 5 71528850 71528850 + Missense_Mutation SNP A A T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 5 71528850 71528850 A T SNP MAP1B NM_005909 human genbank 54_36p +1 validated missense c.3912 p.E1304D 0.974 NULL HMMPfam_MAP1B_neuraxin,PatternScan_MAP1B_NEURAXIN - no_errors ENSG00000179994 0 genome.wustl.edu 36 7 71972798 71972798 + Silent SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 7 71972798 71972798 G A SNP ENSG00000179994 ENST00000355920 human ensembl 54_36p -1 known silent c.354 p.D118 0.000 NULL NULL - no_errors RHBDF2 79651 genome.wustl.edu 36 17 71980462 71980462 + Silent SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 17 71980462 71980462 C T SNP RHBDF2 NM_024599 human genbank 54_36p -1 validated silent c.2052 p.L684 1.000 HMMPfam_Rhomboid HMMPfam_Rhomboid - no_errors CLEC18B 0 genome.wustl.edu 36 16 73009462 73009462 + Missense_Mutation SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 16 73009462 73009462 G A SNP CLEC18B NM_001011880 human genbank 54_36p -1 validated missense c.452 p.T151M 0.996 superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors C14orf43 91748 genome.wustl.edu 36 14 73275850 73275850 + Missense_Mutation SNP C C G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 14 73275850 73275850 C G SNP C14orf43 NM_001043318 human genbank 54_36p -1 validated missense c.615 p.K205N 0.999 NULL HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors TBC1D2B 23102 genome.wustl.edu 36 15 76092487 76092487 + Missense_Mutation SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 15 76092487 76092487 C T SNP TBC1D2B NM_015079 human genbank 54_36p -1 validated missense c.1625 p.R542H 1.000 superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 - no_errors PPEF2 5470 genome.wustl.edu 36 4 77023215 77023215 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 4 77023215 77023215 A G SNP PPEF2 NM_006239 human genbank 54_36p -1 reviewed missense c.821 p.V274A 1.000 superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos HMMPfam_IQ,HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE,HMMSmart_SM00054,superfamily_EF-hand,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors SYTL2 54843 genome.wustl.edu 36 11 85112895 85112895 + Silent SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 11 85112895 85112895 G A SNP SYTL2 NM_206927 human genbank 54_36p -1 reviewed silent c.2253 p.P751 0.239 NULL PatternScan_PHOSPHOPANTETHEINE,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors DMTF1 9988 genome.wustl.edu 36 7 86661133 86661133 + Missense_Mutation SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 7 86661133 86661133 C A SNP DMTF1 NM_021145 human genbank 54_36p +1 reviewed missense c.1807 p.P603T 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding - no_errors CNR1 1268 genome.wustl.edu 36 6 88910669 88910669 + Silent SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 6 88910669 88910669 G A SNP CNR1 NM_016083 human genbank 54_36p -1 reviewed silent c.1044 p.I348 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ENSG00000211617 0 genome.wustl.edu 36 2 89378240 89378240 + Missense_Mutation SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 2 89378240 89378240 G A SNP ENSG00000211617 ENST00000390262 human ensembl 54_36p -1 known missense c.247 p.R83W 0.157 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_stop_codon:bad_bp_length_for_coding_region ZNF644 84146 genome.wustl.edu 36 1 91177487 91177487 + Nonsense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 91177487 91177487 G C SNP ZNF644 NM_201269 human genbank 54_36p -1 validated nonsense c.2012 p.S671* 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CNN3 1266 genome.wustl.edu 36 1 95135950 95135950 + Missense_Mutation SNP T T C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 95135950 95135950 T C SNP CNN3 NM_001839 human genbank 54_36p -1 validated missense c.926 p.H309R 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_CALPONIN_1,HMMPfam_Calponin - no_errors C10orf12 26148 genome.wustl.edu 36 10 98731347 98731347 + Silent SNP T T C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 10 98731347 98731347 T C SNP C10orf12 NM_015652 human genbank 54_36p +1 predicted silent c.210 p.D70 0.932 NULL NULL - no_errors NXF2 56001 genome.wustl.edu 36 X 101459060 101459060 + Missense_Mutation SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 X 101459060 101459060 C T SNP NXF2 NM_017809 human genbank 54_36p +1 reviewed missense c.302 p.T101M 0.000 NULL superfamily_SSF54928,HMMPfam_Tap-RNA_bind,superfamily_SSF52058,superfamily_SSF54427,HMMPfam_NTF2,superfamily_UBA_like,HMMSmart_TAP_C,HMMPfam_TAP_C - no_errors RAGE 5891 genome.wustl.edu 36 14 101786996 101786996 + Missense_Mutation SNP A A T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 14 101786996 101786996 A T SNP RAGE NM_014226 human genbank 54_36p -1 provisional missense c.496 p.W166R 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors PKD2L1 9033 genome.wustl.edu 36 10 102047164 102047164 + Silent SNP G T T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 10 102047164 102047164 G T SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed silent c.921 p.V307 0.998 HMMPfam_PKD_channel HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels - no_errors RINT1 60561 genome.wustl.edu 36 7 104964250 104964250 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 7 104964250 104964250 G C SNP RINT1 NM_021930 human genbank 54_36p +1 validated missense c.91 p.D31H 0.777 NULL HMMPfam_RINT1_TIP1 - no_errors ATM 472 genome.wustl.edu 36 11 107626753 107626753 + Missense_Mutation SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 11 107626753 107626753 C T SNP ATM NM_000051 human genbank 54_36p +1 reviewed missense c.1351 p.R451C 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC - no_errors STXBP3 6814 genome.wustl.edu 36 1 109102726 109102726 + Silent SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 109102726 109102726 C T SNP STXBP3 NM_007269 human genbank 54_36p +1 validated silent c.330 p.F110 1.000 superfamily_Sec1-like,HMMPfam_Sec1 superfamily_Sec1-like,HMMPfam_Sec1 - no_errors PAK3 5063 genome.wustl.edu 36 X 110253006 110253006 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 X 110253006 110253006 A G SNP PAK3 NM_002578 human genbank 54_36p +1 reviewed missense c.19 p.N7D 1.000 NULL HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors RASAL1 8437 genome.wustl.edu 36 12 112041368 112041368 + Missense_Mutation SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 12 112041368 112041368 C T SNP RASAL1 NM_004658 human genbank 54_36p -1 reviewed missense c.590 p.R197Q 0.978 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00107,HMMPfam_BTK - no_errors HSPB8 26353 genome.wustl.edu 36 12 118101552 118101552 + Missense_Mutation SNP C C G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 12 118101552 118101552 C G SNP HSPB8 NM_014365 human genbank 54_36p +1 reviewed missense c.52 p.R18G 0.998 NULL superfamily_HSP20-like chaperones,HMMPfam_HSP20 - no_errors DMXL1 1657 genome.wustl.edu 36 5 118541036 118541036 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 5 118541036 118541036 G C SNP DMXL1 NM_005509 human genbank 54_36p +1 validated missense c.6844 p.D2282H 1.000 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_SUBTILASE_ASP,PatternScan_WD_REPEATS_1 - no_errors DNAH10 196385 genome.wustl.edu 36 12 122838398 122838398 + Missense_Mutation SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 12 122838398 122838398 G C SNP DNAH10 NM_207437 human genbank 54_36p +1 validated missense c.787 p.E263Q 1.000 HMMPfam_DHC_N1 HMMPfam_DHC_N1 - no_errors UROC1 131669 genome.wustl.edu 36 3 127702812 127702812 + Missense_Mutation SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 127702812 127702812 C T SNP UROC1 NM_144639 human genbank 54_36p -1 provisional missense c.904 p.E302K 1.000 superfamily_Urocanase,HMMPfam_Urocanase superfamily_Urocanase,HMMPfam_Urocanase,PatternScan_UROCANASE - no_errors FLNC 2318 genome.wustl.edu 36 7 128265285 128265285 + Silent SNP G G C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 7 128265285 128265285 G C SNP FLNC NM_001458 human genbank 54_36p +1 reviewed silent c.978 p.V326 0.998 superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557 - no_errors LRRC6 23639 genome.wustl.edu 36 8 133714298 133714298 + Missense_Mutation SNP C C G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 8 133714298 133714298 C G SNP LRRC6 NM_012472 human genbank 54_36p -1 provisional missense c.523 p.D175H 1.000 NULL superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00446,HMMPfam_CS - no_errors UTRN 7402 genome.wustl.edu 36 6 144837494 144837494 + Missense_Mutation SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 6 144837494 144837494 C A SNP UTRN NM_007124 human genbank 54_36p +1 reviewed missense c.3242 p.T1081N 0.032 HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 - no_errors EDNRA 1909 genome.wustl.edu 36 4 148626405 148626405 + Missense_Mutation SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 4 148626405 148626405 G A SNP EDNRA NM_001957 human genbank 54_36p +1 validated missense c.122 p.R41H 0.000 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SMARCD3 6604 genome.wustl.edu 36 7 150568500 150568500 + Missense_Mutation SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 7 150568500 150568500 C A SNP SMARCD3 NM_001003801 human genbank 54_36p -1 reviewed missense c.981 p.Q327H 1.000 superfamily_SWIB/MDM2 domain,HMMPfam_SWIB,HMMSmart_SM00151 superfamily_SWIB/MDM2 domain,HMMPfam_SWIB,HMMSmart_SM00151 - no_errors EIF2A 83939 genome.wustl.edu 36 3 151772791 151772791 + Missense_Mutation SNP T T C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 151772791 151772791 T C SNP EIF2A NM_032025 human genbank 54_36p +1 validated missense c.1168 p.W390R 1.000 HMMPfam_eIF2A superfamily_WD40 repeat-like,HMMPfam_eIF2A - no_errors SPTA1 6708 genome.wustl.edu 36 1 156880802 156880802 + Silent SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 156880802 156880802 C T SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed silent c.4203 p.Q1401 0.986 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen - no_errors PTPRN2 5799 genome.wustl.edu 36 7 158026926 158026926 + Missense_Mutation SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 7 158026926 158026926 G A SNP PTPRN2 ENST00000404321 human ensembl 54_36p -1 known missense c.146 p.T49M 0.036 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_start_codon IGSF9 57549 genome.wustl.edu 36 1 158170841 158170841 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 158170841 158170841 A G SNP IGSF9 NM_020789 human genbank 54_36p -1 validated missense c.959 p.L320P 1.000 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409 HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors ENSG00000215841 0 genome.wustl.edu 36 1 159475788 159475788 + Missense_Mutation SNP G A A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 159475788 159475788 G A SNP ENSG00000215841 ENST00000400985 human ensembl 54_36p -1 known missense c.35 p.A12V 0.000 NULL NULL - no_start_codon:no_stop_codon HSPA6 3310 genome.wustl.edu 36 1 159761545 159761545 + Missense_Mutation SNP A A G novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 159761545 159761545 A G SNP HSPA6 NM_002155 human genbank 54_36p +1 validated missense c.473 p.Q158R 1.000 superfamily_Actin-like ATPase domain,HMMPfam_HSP70 superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain - no_errors ETFDH 2110 genome.wustl.edu 36 4 159847395 159847395 + Missense_Mutation SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 4 159847395 159847395 C A SNP ETFDH NM_004453 human genbank 54_36p +1 reviewed missense c.1633 p.P545T 0.995 HMMPfam_ETF_QO superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,HMMPfam_ETF_QO - no_errors EVI1 2122 genome.wustl.edu 36 3 170295602 170295602 + Missense_Mutation SNP T T C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 170295602 170295602 T C SNP EVI1 NM_001105077 human genbank 54_36p -1 validated missense c.2603 p.N868S 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PLD1 5337 genome.wustl.edu 36 3 172910088 172910088 + Silent SNP T T A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 172910088 172910088 T A SNP PLD1 NM_002662 human genbank 54_36p -1 validated silent c.1017 p.R339 0.996 superfamily_Phospholipase D/nuclease HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155 - no_errors LOC100130511 0 genome.wustl.edu 36 1 178671653 178671653 + RNA SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 178671653 178671653 C A SNP LOC100130511 XR_038100 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene TRIM7 81786 genome.wustl.edu 36 5 180559726 180559726 + Missense_Mutation SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 5 180559726 180559726 G A SNP TRIM7 NM_203297 human genbank 54_36p -1 reviewed missense c.34 p.H12Y 0.000 NULL HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors HMCN1 83872 genome.wustl.edu 36 1 184402638 184402638 + Missense_Mutation SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 184402638 184402638 G A SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.15515 p.R5172H 1.000 PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2 - no_errors YEATS2 55689 genome.wustl.edu 36 3 184957133 184957133 + Missense_Mutation SNP A A C novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 184957133 184957133 A C SNP YEATS2 NM_018023 human genbank 54_36p +1 provisional missense c.1514 p.Q505P 0.999 NULL HMMPfam_YEATS - no_errors ABCC5 10057 genome.wustl.edu 36 3 185152035 185152035 + Silent SNP G G A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 3 185152035 185152035 G A SNP ABCC5 NM_005688 human genbank 54_36p -1 reviewed silent c.2832 p.S944 0.997 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors TMEFF2 23671 genome.wustl.edu 36 2 192757359 192757359 + Missense_Mutation SNP C C A novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 2 192757359 192757359 C A SNP TMEFF2 NM_016192 human genbank 54_36p -1 provisional missense c.378 p.E126D 0.999 superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1 superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2 - no_errors CFHR4 10877 genome.wustl.edu 36 1 195142704 195142704 + Missense_Mutation SNP A A T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 195142704 195142704 A T SNP CFHR4 ENST00000367416 human ensembl 54_36p +1 known missense c.530 p.Y177F 0.008 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors LOC100131961 0 genome.wustl.edu 36 1 208507109 208507109 + RNA SNP C C T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 208507109 208507109 C T SNP LOC100131961 XR_036984 human genbank 54_36p -1 model rna NULL NULL 0.989 - - - pseudogene CNIH4 29097 genome.wustl.edu 36 1 222625687 222625687 + Missense_Mutation SNP A A T novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 222625687 222625687 A T SNP CNIH4 NM_014184 human genbank 54_36p +1 provisional missense c.331 p.M111L 1.000 HMMPfam_Cornichon HMMPfam_Cornichon - no_errors BRCA2 675 genome.wustl.edu 36 13 31869045 31869048 + Frame_Shift_Del DEL TACT TACT - novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 TACT TACT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 13 31869045 31869048 TACT - DEL BRCA2 NM_000059 human genbank 54_36p +1 reviewed frame_shift_del c.9512_9515 p.L3172fs 0.000:0.000:0.595:0.744 HMMPfam_BRCA-2_OB3,superfamily_Nucleic_acid_OB HMMPfam_BRCA2,superfamily_BRCA2_helical,HMMPfam_BRCA-2_helical,superfamily_Nucleic_acid_OB,HMMPfam_BRCA-2_OB1,HMMPfam_Tower,superfamily_SSF81878,HMMPfam_BRCA-2_OB3 (deletion:cds_exon[31869035,31869181]) no_errors DSN1 79980 genome.wustl.edu 36 20 34829788 34829788 + Frame_Shift_Del DEL G G - novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 20 34829788 34829788 G - DEL DSN1 NM_024918 human genbank 54_36p -1 reviewed frame_shift_del c.427 p.Q143fs 1.000 HMMPfam_Mis12_component HMMPfam_Mis12_component (deletion:cds_exon[34829786,34829859]) no_errors KRTAP9-9 81870 genome.wustl.edu 36 17 36665665 36665667 + In_Frame_Del DEL TGC TGC - novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 TGC TGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 17 36665665 36665667 TGC - DEL KRTAP9-9 NM_030975 human genbank 54_36p +1 reviewed in_frame_del c.457_459 p.C154in_frame_del 0.864:0.914:0.972 NULL HMMPfam_Keratin_B2 (deletion:cds_exon[36665424,36665673]) no_errors LOC100128528 0 genome.wustl.edu 36 19 54695629 54695630 + Frame_Shift_Ins INS - - AG novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 19 54695629 54695630 - AG INS LOC100128528 XM_001724244 human genbank 54_36p +1 model frame_shift_ins c.37_38 p.T14fs 0.000:0.000 NULL NULL - no_errors FAM111A 63901 genome.wustl.edu 36 11 58675980 58675980 + Frame_Shift_Del DEL G G - novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 11 58675980 58675980 G - DEL FAM111A NM_022074 human genbank 54_36p +1 validated frame_shift_del c.263 p.R88fs 0.000 NULL superfamily_Pept_Ser_Cys (deletion:cds_exon[58675799,58677553]) no_errors LRRC32 2615 genome.wustl.edu 36 11 76049002 76049002 + Frame_Shift_Del DEL G G - novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 11 76049002 76049002 G - DEL LRRC32 NM_005512 human genbank 54_36p -1 reviewed frame_shift_del c.1283 p.P428fs 0.000 superfamily_SSF52058 HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP (deletion:cds_exon[76048296,76050200]) no_errors SPOPL 339745 genome.wustl.edu 36 2 139038762 139038770 + In_Frame_Del DEL GCTGAAGGT GCTGAAGGT - novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 GCTGAAGGT GCTGAAGGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 2 139038762 139038770 GCTGAAGGT - DEL SPOPL NM_001001664 human genbank 54_36p +1 validated in_frame_del c.852_860 p.LKV285in_frame_del 0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB (deletion:cds_exon[139038748,139038890]) no_errors HEATR1 55127 genome.wustl.edu 36 1 234786167 234786181 + In_Frame_Del DEL CTCCAGATGAATCAC CTCCAGATGAATCAC - novel unknown TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 CTCCAGATGAATCAC CTCCAGATGAATCAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f86c7b2-2bf7-469c-92a6-eea9263daf4f d6e9cf10-809b-49cb-9229-cf05553458d9 1 234786167 234786181 CTCCAGATGAATCAC - DEL HEATR1 NM_018072 human genbank 54_36p -1 validated in_frame_del c.5370_5356 p.VIHLE1786in_frame_del 1.000:1.000:0.999:0.932:0.915:0.802:0.780:0.913:0.992:0.992:0.996:0.997:0.997:0.998:0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_HEAT,HMMPfam_BP28CT (deletion:cds_exon[234786023,234786181]) no_errors