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-CYB 4519 genome.wustl.edu 36 MT 14752 14752 + Missense_Mutation SNP C T T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b MT 14752 14752 C T SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.5 p.T2I NULL superfamily_Transmembr_di-haem_cytochrome superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region RRM1 6240 genome.wustl.edu 36 11 4101075 4101075 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 11 4101075 4101075 C T SNP RRM1 NM_001033 human genbank 54_36p +1 reviewed missense c.1205 p.T402I 1.000 HMMPfam_Ribonuc_red_lgC,superfamily_SSF51998 HMMPfam_ATP-cone,superfamily_Ribonucleo_red_N,HMMPfam_Ribonuc_red_lgN,HMMPfam_Ribonuc_red_lgC,superfamily_SSF51998,PatternScan_RIBORED_LARGE - no_errors SMTNL2 342527 genome.wustl.edu 36 17 4457521 4457521 + Missense_Mutation SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 17 4457521 4457521 G A SNP SMTNL2 NM_198501 human genbank 54_36p +1 validated missense c.944 p.R315H 1.000 superfamily_Calponin-homology HMMPfam_CH,superfamily_Calponin-homology,HMMSmart_CH - no_errors SLC23A2 9962 genome.wustl.edu 36 20 4802621 4802621 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 20 4802621 4802621 C T SNP SLC23A2 NM_005116 human genbank 54_36p -1 reviewed missense c.1063 p.V355M 0.988 HMMPfam_Xan_ur_permease HMMPfam_Xan_ur_permease,PatternScan_XANTH_URACIL_PERMASE - no_errors TP53 7157 genome.wustl.edu 36 17 7519138 7519138 + Missense_Mutation SNP C T T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 17 7519138 7519138 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.517 p.V173M 0.999 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 USP7 7874 genome.wustl.edu 36 16 8895946 8895946 + Missense_Mutation SNP T T C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 16 8895946 8895946 T C SNP USP7 NM_003470 human genbank 54_36p -1 validated missense c.3164 p.E1055G 1.000 NULL superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors USP7 7874 genome.wustl.edu 36 16 8896440 8896440 + Silent SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 16 8896440 8896440 G A SNP USP7 NM_003470 human genbank 54_36p -1 validated silent c.2988 p.H996 1.000 NULL HMMPfam_UCH,HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001 - no_errors LDB2 9079 genome.wustl.edu 36 4 16122752 16122752 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 4 16122752 16122752 C T SNP LDB2 NM_001290 human genbank 54_36p -1 validated missense c.689 p.C230Y 1.000 HMMPfam_LIM_bind HMMPfam_LIM_bind - no_errors ENSG00000197511 0 genome.wustl.edu 36 1 16735088 16735088 + Silent SNP T C C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 16735088 16735088 T C SNP ENSG00000197511 ENST00000357301 human ensembl 54_36p +1 known silent c.222 p.R74 0.004 NULL NULL - no_errors MFAP2 4237 genome.wustl.edu 36 1 17176207 17176207 + Missense_Mutation SNP G G C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 17176207 17176207 G C SNP MFAP2 NM_002403 human genbank 54_36p -1 reviewed missense c.111 p.H37Q 1.000 HMMPfam_MAGP HMMPfam_MAGP,HMMPfam_ShK - no_errors NHLRC1 378884 genome.wustl.edu 36 6 18230505 18230505 + Silent SNP A A G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 6 18230505 18230505 A G SNP NHLRC1 NM_198586 human genbank 54_36p -1 provisional silent c.312 p.H104 0.000 superfamily_SSF57850 superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_SSF101898,HMMPfam_NHL - no_errors NAT2 10 genome.wustl.edu 36 8 18302099 18302099 + Silent SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 8 18302099 18302099 C T SNP NAT2 NM_000015 human genbank 54_36p +1 reviewed silent c.306 p.S102 0.000 superfamily_SSF54001,HMMPfam_Acetyltransf_2 superfamily_SSF54001,HMMPfam_Acetyltransf_2 - no_errors ECE1 1889 genome.wustl.edu 36 1 21424410 21424410 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 21424410 21424410 C T SNP ECE1 NM_001397 human genbank 54_36p -1 validated missense c.1960 p.V654M 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13" "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13,PatternScan_ZINC_PROTEASE" - no_errors LOC646609 0 genome.wustl.edu 36 9 22737941 22737941 + RNA SNP C C A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 9 22737941 22737941 C A SNP LOC646609 XR_037907 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene ENTPD6 955 genome.wustl.edu 36 20 25151487 25151487 + Silent SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 20 25151487 25151487 C T SNP ENTPD6 NM_001247 human genbank 54_36p +1 reviewed silent c.1059 p.H353 0.055 HMMPfam_GDA1_CD39 HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE - no_errors NF1 4763 genome.wustl.edu 36 17 26600260 26600260 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 17 26600260 26600260 C A SNP NF1 NM_001042492 human genbank 54_36p +1 reviewed nonsense c.4107 p.Y1369* 1.000 HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516 - no_errors MASTL 84930 genome.wustl.edu 36 10 27499903 27499903 + Missense_Mutation SNP C C G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 27499903 27499903 C G SNP MASTL NM_032844 human genbank 54_36p +1 validated missense c.2009 p.P670R 1.000 superfamily_Kinase_like superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X - no_errors NF2 4771 genome.wustl.edu 36 22 28391031 28391031 + Nonsense_Mutation SNP C C G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 22 28391031 28391031 C G SNP NF2 NM_000268 human genbank 54_36p +1 reviewed nonsense c.863 p.S288* 1.000 superfamily_PH domain-like,HMMPfam_FERM_C HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_ERM,superfamily_Moesin tail domain - no_errors LIG3 3980 genome.wustl.edu 36 17 30337178 30337178 + Silent SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 17 30337178 30337178 G A SNP LIG3 NM_013975 human genbank 54_36p +1 reviewed silent c.606 p.L202 1.000 superfamily_Glucocorticoid receptor-like (DNA-binding domain) superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-PARP,PatternScan_PARP_ZN_FINGER_1,HMMPfam_DNA_ligase_A_N,superfamily_DNA ligase/mRNA capping enzyme catalytic domain,HMMPfam_DNA_ligase_A_M,PatternScan_DNA_LIGASE_A1,PatternScan_DNA_LIGASE_A2,HMMPfam_DNA_ligase_A_C,superfamily_BRCT domain,HMMSmart_SM00292 - no_errors AQP1 358 genome.wustl.edu 36 7 30929731 30929731 + Missense_Mutation SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 7 30929731 30929731 G A SNP AQP1 NM_198098 human genbank 54_36p +1 reviewed missense c.772 p.D258N 0.265 NULL superfamily_Aquaporin-like,HMMPfam_MIP,PatternScan_MIP - no_errors ITGAM 3684 genome.wustl.edu 36 16 31216590 31216590 + Silent SNP T T G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 16 31216590 31216590 T G SNP ITGAM NM_000632 human genbank 54_36p +1 reviewed silent c.1521 p.A507 0.001 superfamily_SSF69318,HMMSmart_Int_alpha superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors CSMD2 114784 genome.wustl.edu 36 1 34010891 34010891 + Missense_Mutation SNP C C A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 34010891 34010891 C A SNP CSMD2 NM_052896 human genbank 54_36p -1 validated missense c.1592 p.R531L 1.000 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC - no_errors CA9 768 genome.wustl.edu 36 9 35664344 35664344 + Missense_Mutation SNP C C A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 9 35664344 35664344 C A SNP CA9 NM_001216 human genbank 54_36p +1 reviewed missense c.388 p.H130N 0.561 NULL superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1 - no_errors NUP155 9631 genome.wustl.edu 36 5 37346528 37346528 + Missense_Mutation SNP T T G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 5 37346528 37346528 T G SNP NUP155 NM_153485 human genbank 54_36p -1 reviewed missense c.2511 p.L837F 0.973 HMMPfam_Nucleoporin HMMPfam_Nucleoporin - no_errors SETBP1 26040 genome.wustl.edu 36 18 40786485 40786485 + Missense_Mutation SNP T T C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 18 40786485 40786485 T C SNP SETBP1 NM_015559 human genbank 54_36p +1 validated missense c.3020 p.M1007T 1.000 NULL HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors ZNF335 63925 genome.wustl.edu 36 20 44022406 44022406 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 20 44022406 44022406 C T SNP ZNF335 NM_022095 human genbank 54_36p -1 reviewed missense c.1868 p.C623Y 1.000 HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors FCGBP 8857 genome.wustl.edu 36 19 45100524 45100524 + Missense_Mutation SNP C C A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 19 45100524 45100524 C A SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.4155 p.Q1385H 0.562 HMMSmart_VWD,HMMPfam_VWD HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC - no_errors NASP 4678 genome.wustl.edu 36 1 45853624 45853624 + Missense_Mutation SNP T T C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 45853624 45853624 T C SNP NASP NM_172164 human genbank 54_36p +1 reviewed missense c.1922 p.I641T 1.000 superfamily_SSF48452 HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMPfam_SHNi-TPR - no_errors LOC728643 728643 genome.wustl.edu 36 10 46553753 46553753 + RNA SNP T T C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 46553753 46553753 T C SNP LOC728643 NR_003277 human genbank 54_36p -1 provisional rna NULL NULL 1.000 - - - pseudogene MSH6 2956 genome.wustl.edu 36 2 47880972 47880972 + Silent SNP C C G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 2 47880972 47880972 C G SNP MSH6 NM_000179 human genbank 54_36p +1 reviewed silent c.2346 p.L782 0.999 HMMPfam_MutS_III,superfamily_DNA repair protein MutS domain III,HMMSmart_SM00533 superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_DNA repair protein MutS domain I,HMMPfam_MutS_I,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA repair protein MutS domain III,HMMSmart_SM00533,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00534,PatternScan_DNA_MISMATCH_REPAIR_2 - no_errors GDF2 2658 genome.wustl.edu 36 10 48034230 48034230 + Missense_Mutation SNP A A T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 48034230 48034230 A T SNP GDF2 NM_016204 human genbank 54_36p -1 reviewed missense c.644 p.V215D 0.855 HMMPfam_TGFb_propeptide HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1 - no_errors CCDC120 90060 genome.wustl.edu 36 X 48808400 48808400 + Missense_Mutation SNP G G T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b X 48808400 48808400 G T SNP CCDC120 NM_033626 human genbank 54_36p +1 provisional missense c.248 p.R83L 1.000 NULL NULL - no_errors C10orf71 118461 genome.wustl.edu 36 10 50203209 50203209 + Silent SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 50203209 50203209 C T SNP C10orf71 ENST00000374144 human ensembl 54_36p +1 known silent c.2613 p.I871 0.717 NULL PatternScan_SUGAR_TRANSPORT_1 - no_errors KRT6B 3854 genome.wustl.edu 36 12 51131718 51131718 + Missense_Mutation SNP C C A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 12 51131718 51131718 C A SNP KRT6B NM_005555 human genbank 54_36p -1 reviewed missense c.412 p.V138F 1.000 NULL HMMPfam_Filament,PatternScan_IF - no_errors OR8K1 390157 genome.wustl.edu 36 11 55870822 55870822 + Missense_Mutation SNP C C G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 11 55870822 55870822 C G SNP OR8K1 NM_001002907 human genbank 54_36p +1 provisional missense c.732 p.F244L 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MS4A12 54860 genome.wustl.edu 36 11 60026080 60026080 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 11 60026080 60026080 C T SNP MS4A12 NM_017716 human genbank 54_36p +1 reviewed missense c.463 p.R155C 0.000 HMMPfam_CD20 HMMPfam_CD20 - no_errors NCR1 9437 genome.wustl.edu 36 19 60109946 60109946 + Missense_Mutation SNP G G C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 19 60109946 60109946 G C SNP NCR1 NM_004829 human genbank 54_36p +1 validated missense c.324 p.E108D 0.013 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors FAM96A 84191 genome.wustl.edu 36 15 62152221 62152221 + Missense_Mutation SNP G G C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 15 62152221 62152221 G C SNP FAM96A NM_032231 human genbank 54_36p -1 validated missense c.445 p.R149G 1.000 NULL HMMPfam_DUF59 - no_errors CPT1A 1374 genome.wustl.edu 36 11 68323375 68323375 + Missense_Mutation SNP T T A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 11 68323375 68323375 T A SNP CPT1A NM_001876 human genbank 54_36p -1 reviewed missense c.580 p.M194L 0.964 superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2 - no_errors CLEC18C 283971 genome.wustl.edu 36 16 68765796 68765796 + Silent SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 16 68765796 68765796 G A SNP CLEC18C NM_173619 human genbank 54_36p +1 validated silent c.114 p.P38 0.000 superfamily_PR-1-like 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 AAK1 22848 genome.wustl.edu 36 2 69595266 69595266 + Silent SNP T T C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 2 69595266 69595266 T C SNP AAK1 NM_014911 human genbank 54_36p -1 reviewed silent c.1617 p.Q539 0.998 NULL superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST - no_errors IQGAP2 10788 genome.wustl.edu 36 5 75924500 75924500 + Missense_Mutation SNP G G T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 5 75924500 75924500 G T SNP IQGAP2 NM_006633 human genbank 54_36p +1 validated missense c.901 p.V301F 0.968 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_WW_DOMAIN_1,HMMSmart_SM00015,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_GTPase activation domain GAP,HMMSmart_SM00323,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C - no_errors ACADM 34 genome.wustl.edu 36 1 75987748 75987748 + Silent SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 75987748 75987748 G A SNP ACADM NM_000016 human genbank 54_36p +1 reviewed silent c.765 p.V255 1.000 superfamily_Acyl-CoA dehydrogenase NM domain-like superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,PatternScan_ACYL_COA_DH_2 - no_errors PDE8B 8622 genome.wustl.edu 36 5 76660615 76660615 + Silent SNP G G C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 5 76660615 76660615 G C SNP PDE8B NM_003719 human genbank 54_36p +1 validated silent c.627 p.V209 1.000 HMMPfam_Response_reg HMMPfam_PDE8,HMMPfam_Response_reg,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors ART3 419 genome.wustl.edu 36 4 77222515 77222515 + Missense_Mutation SNP A A G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 4 77222515 77222515 A G SNP ART3 NM_001179 human genbank 54_36p +1 validated missense c.584 p.N195S 0.000 superfamily_SSF56399,HMMPfam_ART superfamily_SSF56399,HMMPfam_ART,PatternScan_ART - no_errors EDIL3 10085 genome.wustl.edu 36 5 83396377 83396377 + Missense_Mutation SNP A A T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 5 83396377 83396377 A T SNP EDIL3 NM_005711 human genbank 54_36p -1 reviewed missense c.850 p.S284T 1.000 HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors FANCA 2175 genome.wustl.edu 36 16 88340766 88340766 + Missense_Mutation SNP G G T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 16 88340766 88340766 G T SNP FANCA NM_000135 human genbank 54_36p -1 reviewed missense c.3382 p.Q1128K 0.901 NULL HMMPfam_Fanconi_A - no_errors EPHA3 2042 genome.wustl.edu 36 3 89472852 89472852 + Missense_Mutation SNP G G C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 3 89472852 89472852 G C SNP EPHA3 NM_005233 human genbank 54_36p +1 reviewed missense c.911 p.C304S 1.000 NULL 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,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain - no_errors STEAP1 26872 genome.wustl.edu 36 7 89629166 89629166 + Silent SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 7 89629166 89629166 C T SNP STEAP1 NM_012449 human genbank 54_36p +1 reviewed silent c.600 p.V200 0.987 HMMPfam_Ferric_reduct HMMPfam_Ferric_reduct - no_errors CALCR 799 genome.wustl.edu 36 7 92901499 92901499 + Splice_Site SNP A A C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 7 92901499 92901499 A C SNP CALCR NM_001742 human genbank 54_36p -1 validated splice_site c.1191+2 e11+2 1.000 - - - no_errors RUNX1T1 862 genome.wustl.edu 36 8 93096055 93096055 + Silent SNP G G T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 8 93096055 93096055 G T SNP RUNX1T1 NM_175634 human genbank 54_36p -1 reviewed silent c.396 p.T132 0.998 HMMPfam_TAFH,HMMSmart_SM00549 HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 - no_errors ASTL 431705 genome.wustl.edu 36 2 96153700 96153700 + Silent SNP C T T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 2 96153700 96153700 C T SNP ASTL NM_001002036 human genbank 54_36p -1 validated silent c.912 p.P304 0.286 NULL "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin" - no_errors PIK3AP1 118788 genome.wustl.edu 36 10 98373232 98373232 + Silent SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 98373232 98373232 C T SNP PIK3AP1 NM_152309 human genbank 54_36p -1 validated silent c.1722 p.E574 0.586 NULL superfamily_Ankyrin repeat - no_errors RRP12 23223 genome.wustl.edu 36 10 99135724 99135724 + Missense_Mutation SNP G G C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 99135724 99135724 G C SNP RRP12 NM_015179 human genbank 54_36p -1 validated missense c.1034 p.A345G 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_NUC173 - no_errors OR5H1 26341 genome.wustl.edu 36 3 99334907 99334907 + Missense_Mutation SNP T T A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 3 99334907 99334907 T A SNP OR5H1 NM_001005338 human genbank 54_36p +1 provisional missense c.676 p.L226I 0.007 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DNMBP 23268 genome.wustl.edu 36 10 101705838 101705838 + Silent SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 101705838 101705838 G A SNP DNMBP NM_015221 human genbank 54_36p -1 validated silent c.1383 p.P461 0.770 NULL superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,HMMSmart_SM00721,HMMPfam_BAR - no_errors GRIA4 2893 genome.wustl.edu 36 11 105294683 105294683 + Missense_Mutation SNP A A T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 11 105294683 105294683 A T SNP GRIA4 NM_000829 human genbank 54_36p +1 reviewed missense c.1305 p.E435D 0.993 HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors TM7SF4 81501 genome.wustl.edu 36 8 105430488 105430488 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 8 105430488 105430488 C T SNP TM7SF4 NM_030788 human genbank 54_36p +1 reviewed missense c.532 p.P178S 0.392 NULL HMMPfam_DC_STAMP - no_errors LOC341230 341230 genome.wustl.edu 36 11 106552861 106552861 + RNA SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 11 106552861 106552861 G A SNP LOC341230 XR_016383 human genbank 54_36p +1 model rna NULL NULL 0.968 - - - pseudogene LOC729164 729164 genome.wustl.edu 36 2 109327036 109327036 + RNA SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 2 109327036 109327036 C T SNP LOC729164 XR_041020 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors CSMD3 114788 genome.wustl.edu 36 8 113632238 113632238 + Missense_Mutation SNP T T C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 8 113632238 113632238 T C SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.4402 p.I1468V 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors FOXP2 93986 genome.wustl.edu 36 7 114085531 114085531 + Missense_Mutation SNP G G T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 7 114085531 114085531 G T SNP FOXP2 NM_148898 human genbank 54_36p +1 reviewed missense c.1516 p.D506Y 1.000 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2 - no_errors ZNF80 7634 genome.wustl.edu 36 3 115438123 115438123 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 3 115438123 115438123 G T SNP ZNF80 NM_007136 human genbank 54_36p -1 validated nonsense c.489 p.C163* 0.057 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors AMBP 259 genome.wustl.edu 36 9 115878788 115878788 + Missense_Mutation SNP C C A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 9 115878788 115878788 C A SNP AMBP NM_001633 human genbank 54_36p -1 reviewed missense c.171 p.K57N 0.331 superfamily_Calycin,HMMPfam_Lipocalin superfamily_Calycin,PatternScan_LIPOCALIN,HMMPfam_Lipocalin,superfamily_Prot_inh_Kunz-m,HMMSmart_KU,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors CEP164 22897 genome.wustl.edu 36 11 116756538 116756538 + Splice_Site SNP A A G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 11 116756538 116756538 A G SNP CEP164 NM_014956 human genbank 54_36p +1 validated splice_site c.1318-2 e10-2 0.933 - - - no_errors GRK5 2869 genome.wustl.edu 36 10 121191565 121191565 + Silent SNP C C G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 121191565 121191565 C G SNP GRK5 NM_005308 human genbank 54_36p +1 reviewed silent c.1032 p.G344 0.999 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase PatternScan_PROTEIN_KINASE_ST,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_S_TK_X - no_errors CCDC62 84660 genome.wustl.edu 36 12 121848701 121848701 + Splice_Site SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 12 121848701 121848701 G A SNP CCDC62 NM_201435 human genbank 54_36p +1 validated splice_site c.977+1 e8+1 1.000 - - - no_errors SETD8 387893 genome.wustl.edu 36 12 122445685 122445685 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 12 122445685 122445685 C T SNP SETD8 NM_020382 human genbank 54_36p +1 validated missense c.428 p.S143L 0.249 NULL superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET - no_errors PLEKHA1 59338 genome.wustl.edu 36 10 124156178 124156178 + Missense_Mutation SNP C C G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 10 124156178 124156178 C G SNP PLEKHA1 NM_001001974 human genbank 54_36p +1 validated missense c.341 p.T114R 1.000 superfamily_SSF50729,HMMSmart_PH superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors GPR119 139760 genome.wustl.edu 36 X 129346505 129346505 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b X 129346505 129346505 G A SNP GPR119 NM_178471 human genbank 54_36p -1 provisional nonsense c.598 p.R200* 0.961 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PGAM5 192111 genome.wustl.edu 36 12 131804444 131804444 + Missense_Mutation SNP A G G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 12 131804444 131804444 A G SNP PGAM5 NM_138575 human genbank 54_36p +1 provisional missense c.572 p.K191R 1.000 superfamily_Phosphoglycerate mutase-like,HMMPfam_PGAM superfamily_Phosphoglycerate mutase-like,HMMPfam_PGAM - no_errors PCDHB9 56127 genome.wustl.edu 36 5 140548111 140548111 + Silent SNP T T G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 5 140548111 140548111 T G SNP PCDHB9 NM_019119 human genbank 54_36p +1 reviewed silent c.1035 p.P345 0.889 superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1 HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDHB13 56123 genome.wustl.edu 36 5 140574541 140574541 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 5 140574541 140574541 C T SNP PCDHB13 NM_018933 human genbank 54_36p +1 reviewed missense c.662 p.P221L 0.258 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors LARS 51520 genome.wustl.edu 36 5 145504043 145504043 + Missense_Mutation SNP C C G novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 5 145504043 145504043 C G SNP LARS NM_020117 human genbank 54_36p -1 reviewed missense c.1718 p.C573S 1.000 superfamily_Nucleotidylyl transferase superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,HMMPfam_tRNA-synt_1g,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 - no_errors ADAM15 8751 genome.wustl.edu 36 1 153297143 153297143 + Missense_Mutation SNP C C T novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 153297143 153297143 C T SNP ADAM15 NM_207197 human genbank 54_36p +1 reviewed missense c.1609 p.P537S 0.160 HMMSmart_SM00608,HMMPfam_ADAM_CR "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2" - no_errors GRIA2 2891 genome.wustl.edu 36 4 158444187 158444187 + Missense_Mutation SNP T T A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 4 158444187 158444187 T A SNP GRIA2 NM_000826 human genbank 54_36p +1 reviewed missense c.263 p.I88N 1.000 superfamily_SSF53822,HMMPfam_ANF_receptor superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors SLAMF7 57823 genome.wustl.edu 36 1 158984930 158984930 + Splice_Site SNP T T A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 158984930 158984930 T A SNP SLAMF7 NM_021181 human genbank 54_36p +1 provisional splice_site c.376+2 e2+2 0.947 - - - no_errors ZNF648 127665 genome.wustl.edu 36 1 180293585 180293585 + Missense_Mutation SNP T T C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 180293585 180293585 T C SNP ZNF648 NM_001009992 human genbank 54_36p -1 provisional missense c.184 p.T62A 0.000 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HMCN1 83872 genome.wustl.edu 36 1 184401961 184401961 + Silent SNP G G C novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 1 184401961 184401961 G C SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed silent c.15342 p.G5114 0.984 PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF 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 GTF3C3 9330 genome.wustl.edu 36 2 197344768 197344768 + Missense_Mutation SNP C C A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 2 197344768 197344768 C A SNP GTF3C3 NM_012086 human genbank 54_36p -1 provisional missense c.2209 p.V737F 1.000 superfamily_TPR-like HMMSmart_SM00028,superfamily_Protein prenylyltransferase,HMMPfam_TPR_2,superfamily_TPR-like,HMMPfam_TPR_1 - no_errors ERBB4 2066 genome.wustl.edu 36 2 212286594 212286594 + Missense_Mutation SNP G G A novel unknown TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f23c9abe-ad14-42bf-81aa-dab330395c71 b91b08e2-dacf-4c54-858f-6b19b3b5587b 2 212286594 212286594 G A SNP ERBB4 NM_005235 human genbank 54_36p -1 reviewed missense c.908 p.S303F 1.000 HMMPfam_Furin-like,superfamily_Growth factor receptor domain superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMSmart_SM00261,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMPfam_YLP - no_errors