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 AGRN 375790 genome.wustl.edu 36 1 971097 971097 + Silent SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 971097 971097 G T SNP AGRN NM_198576 human genbank 54_36p +1 validated silent c.2658 p.L886 1.000 HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 HMMPfam_NtA,superfamily_TIMP_like,HMMSmart_FOLN,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_1,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_SSF82671,HMMPfam_SEA,HMMSmart_SEA,HMMSmart_EGF,HMMPfam_EGF,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_1,PatternScan_EGF_2 - no_errors CYP2W1 54905 genome.wustl.edu 36 7 992927 992927 + Missense_Mutation SNP A A T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 7 992927 992927 A T SNP CYP2W1 NM_017781 human genbank 54_36p +1 reviewed missense c.787 p.S263C 0.559 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors MUC2 4583 genome.wustl.edu 36 11 1082910 1082910 + Missense_Mutation SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 11 1082910 1082910 G A SNP MUC2 ENST00000359061 human ensembl 54_36p +1 known missense c.4732 p.G1578S 0.000 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMSmart_SM00215,superfamily_PMP inhibitors - no_stop_codon SMG6 23293 genome.wustl.edu 36 17 2086583 2086583 + Missense_Mutation SNP T T G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 17 2086583 2086583 T G SNP SMG6 NM_017575 human genbank 54_36p -1 validated missense c.2822 p.Q941P 1.000 NULL HMMPfam_EST1,superfamily_PIN domain-like,HMMSmart_SM00670 - no_errors CHST12 55501 genome.wustl.edu 36 7 2439141 2439141 + Missense_Mutation SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 7 2439141 2439141 G T SNP CHST12 NM_018641 human genbank 54_36p +1 validated missense c.341 p.S114I 0.000 HMMPfam_Sulfotransfer_2 HMMPfam_Sulfotransfer_2 - no_errors CACNA1C 775 genome.wustl.edu 36 12 2561108 2561108 + Missense_Mutation SNP A A T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 12 2561108 2561108 A T SNP CACNA1C NM_000719 human genbank 54_36p +1 reviewed missense c.1987 p.I663F 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors NOP56 10528 genome.wustl.edu 36 20 2586892 2586892 + Missense_Mutation SNP C C G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 20 2586892 2586892 C G SNP NOP56 NM_006392 human genbank 54_36p +1 reviewed missense c.1737 p.S579R 0.701 NULL HMMPfam_NOP5NT,HMMPfam_NOSIC,superfamily_SSF89124,HMMPfam_Nop - no_errors OR52I2 143502 genome.wustl.edu 36 11 4564669 4564669 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 11 4564669 4564669 C T SNP OR52I2 NM_001005170 human genbank 54_36p +1 provisional silent c.51 p.C17 0.000 NULL superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CHD5 26038 genome.wustl.edu 36 1 6125135 6125135 + Missense_Mutation SNP T T A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 6125135 6125135 T A SNP CHD5 NM_015557 human genbank 54_36p -1 provisional missense c.2161 p.T721S 1.000 superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N PatternScan_CHROMO_1,HMMPfam_CHDNT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,HMMSmart_RING,superfamily_Chromodomain-like,HMMSmart_CHROMO,superfamily_SSF52540,HMMPfam_Chromo,HMMSmart_DEXDc,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2 - no_errors GPR153 387509 genome.wustl.edu 36 1 6236535 6236535 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 6236535 6236535 G C SNP GPR153 NM_207370 human genbank 54_36p -1 provisional missense c.616 p.Q206E 0.821 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors CLSTN3 9746 genome.wustl.edu 36 12 7181847 7181847 + Missense_Mutation SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 12 7181847 7181847 G T SNP CLSTN3 NM_014718 human genbank 54_36p +1 validated missense c.1240 p.V414F 1.000 superfamily_ConA_like_lec_gl PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,superfamily_ConA_like_lec_gl - no_errors OLFML1 283298 genome.wustl.edu 36 11 7487908 7487908 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 11 7487908 7487908 C T SNP OLFML1 NM_198474 human genbank 54_36p +1 provisional silent c.1122 p.N374 1.000 HMMPfam_OLF,HMMSmart_SM00284 HMMPfam_OLF,HMMSmart_SM00284 - no_errors TP53 7157 genome.wustl.edu 36 17 7519120 7519120 + Missense_Mutation SNP G A A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 17 7519120 7519120 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.535 p.H179Y 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors DSP 1832 genome.wustl.edu 36 6 7528701 7528701 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 6 7528701 7528701 C T SNP DSP NM_004415 human genbank 54_36p +1 reviewed silent c.6207 p.V2069 0.974 superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin - no_errors GNAL 2774 genome.wustl.edu 36 18 11743899 11743899 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 18 11743899 11743899 C T SNP GNAL NM_182978 human genbank 54_36p +1 validated silent c.579 p.D193 1.000 HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert - no_errors GRIN2B 2904 genome.wustl.edu 36 12 13608728 13608728 + Missense_Mutation SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 12 13608728 13608728 G A SNP GRIN2B NM_000834 human genbank 54_36p -1 reviewed missense c.2711 p.T904M 1.000 HMMPfam_NMDAR2_C superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C - no_errors AHR 196 genome.wustl.edu 36 7 17345309 17345309 + Silent SNP T T G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 7 17345309 17345309 T G SNP AHR NM_001621 human genbank 54_36p +1 reviewed silent c.1335 p.T445 0.000 NULL HMMSmart_SM00353,HMMPfam_HLH,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086 - no_errors TEP1 7011 genome.wustl.edu 36 14 19911535 19911535 + Missense_Mutation SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 14 19911535 19911535 C T SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed missense c.6652 p.G2218R 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors RNASE6 6039 genome.wustl.edu 36 14 20319801 20319801 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 14 20319801 20319801 G C SNP RNASE6 NM_005615 human genbank 54_36p +1 validated missense c.103 p.E35Q 0.453 superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC - no_errors ZP2 7783 genome.wustl.edu 36 16 21122891 21122891 + Silent SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 16 21122891 21122891 G C SNP ZP2 NM_003460 human genbank 54_36p -1 reviewed silent c.933 p.G311 0.776 NULL HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 - no_errors LOC284821 284821 genome.wustl.edu 36 21 25656479 25656479 + RNA SNP A A T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 21 25656479 25656479 A T SNP LOC284821 XR_016232 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene MYO3A 53904 genome.wustl.edu 36 10 26326109 26326109 + Missense_Mutation SNP C C A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 10 26326109 26326109 C A SNP MYO3A NM_017433 human genbank 54_36p +1 reviewed missense c.424 p.H142N 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ - no_errors PLAA 9373 genome.wustl.edu 36 9 26909314 26909314 + Missense_Mutation SNP A A T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 9 26909314 26909314 A T SNP PLAA NM_001031689 human genbank 54_36p -1 validated missense c.1411 p.F471I 0.997 NULL PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_PFU,HMMPfam_PUL,superfamily_ARM-type_fold - no_errors ADAMTS1 9510 genome.wustl.edu 36 21 27138609 27138609 + Missense_Mutation SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 21 27138609 27138609 G A SNP ADAMTS1 NM_006988 human genbank 54_36p -1 reviewed missense c.536 p.A179V 0.000 NULL 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 LOC390561 390561 genome.wustl.edu 36 15 28875469 28875469 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 15 28875469 28875469 C T SNP LOC390561 XM_001726958 human genbank 54_36p +1 model silent c.1608 p.H536 0.010 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region RNF160 26046 genome.wustl.edu 36 21 29225351 29225351 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 21 29225351 29225351 G C SNP RNF160 NM_015565 human genbank 54_36p -1 validated missense c.5235 p.C1745W 1.000 superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4 superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4 - no_errors IL1RAPL1 11141 genome.wustl.edu 36 X 29882714 29882714 + Missense_Mutation SNP T A A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 X 29882714 29882714 T A SNP IL1RAPL1 NM_014271 human genbank 54_36p +1 reviewed missense c.1356 p.D452E 1.000 superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors SLFN5 162394 genome.wustl.edu 36 17 30610495 30610495 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 17 30610495 30610495 G C SNP SLFN5 NM_144975 human genbank 54_36p +1 validated missense c.673 p.G225R 0.826 HMMPfam_AAA_4 HMMPfam_AAA_4,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SRCAP 10847 genome.wustl.edu 36 16 30640154 30640154 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 16 30640154 30640154 G C SNP SRCAP NM_006662 human genbank 54_36p +1 validated missense c.3397 p.V1133L 1.000 NULL HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_AT_hook,HMMSmart_SM00384 - no_errors C6orf27 80737 genome.wustl.edu 36 6 31842943 31842943 + Missense_Mutation SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 6 31842943 31842943 C T SNP C6orf27 NM_025258 human genbank 54_36p -1 validated missense c.1853 p.G618D 1.000 NULL HMMSmart_VWA,superfamily_SSF53300 - no_errors SYNC 81493 genome.wustl.edu 36 1 32933086 32933086 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 32933086 32933086 C T SNP SYNC NM_030786 human genbank 54_36p -1 validated silent c.207 p.R69 1.000 NULL NULL - no_errors ERBB2 2064 genome.wustl.edu 36 17 35134901 35134901 + Missense_Mutation SNP C C G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 17 35134901 35134901 C G SNP ERBB2 NM_004448 human genbank 54_36p +1 reviewed missense c.2567 p.P856R 1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220 superfamily_L domain-like,HMMPfam_Recep_L_domain,superfamily_Growth factor receptor domain,HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_EF_HAND_1,HMMPfam_YLP - no_errors KIF21A 55605 genome.wustl.edu 36 12 38037499 38037499 + Missense_Mutation SNP C C G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 12 38037499 38037499 C G SNP KIF21A NM_017641 human genbank 54_36p -1 validated missense c.1223 p.R408T 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors DISP2 85455 genome.wustl.edu 36 15 38447170 38447170 + Missense_Mutation SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 15 38447170 38447170 G A SNP DISP2 NM_033510 human genbank 54_36p +1 reviewed missense c.1565 p.G522D 0.994 superfamily_SSF82866 superfamily_SSF82866 - no_errors DNAH8 1769 genome.wustl.edu 36 6 38933359 38933359 + Missense_Mutation SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 6 38933359 38933359 G T SNP DNAH8 NM_001371 human genbank 54_36p +1 validated missense c.5170 p.V1724L 0.229 NULL HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors LOXHD1 125336 genome.wustl.edu 36 18 42403594 42403594 + Missense_Mutation SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 18 42403594 42403594 G A SNP LOXHD1 ENST00000398722 human ensembl 54_36p -1 known missense c.1219 p.R407C 1.000 superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMSmart_SM00308,HMMPfam_PLAT superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308 - no_errors SLC2A1 6513 genome.wustl.edu 36 1 43181491 43181491 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 43181491 43181491 G C SNP SLC2A1 NM_006516 human genbank 54_36p -1 reviewed missense c.107 p.P36R 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1 - no_errors UROD 7389 genome.wustl.edu 36 1 45250539 45250539 + Silent SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 45250539 45250539 G T SNP UROD NM_000374 human genbank 54_36p +1 reviewed silent c.15 p.G5 0.001 NULL superfamily_UROD/MetE-like,HMMPfam_URO-D,PatternScan_UROD_1,PatternScan_UROD_2 - no_errors AKR1A1 10327 genome.wustl.edu 36 1 45806356 45806356 + Missense_Mutation SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 45806356 45806356 G T SNP AKR1A1 NM_006066 human genbank 54_36p +1 reviewed missense c.472 p.A158S 0.999 superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_2 superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3 - no_errors TDRD6 221400 genome.wustl.edu 36 6 46765382 46765382 + Missense_Mutation SNP A A C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 6 46765382 46765382 A C SNP TDRD6 NM_001010870 human genbank 54_36p +1 provisional missense c.1558 p.M520L 0.856 HMMPfam_TUDOR HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 - no_errors PLXNB1 5364 genome.wustl.edu 36 3 48427418 48427418 + Missense_Mutation SNP C G G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 3 48427418 48427418 C G SNP PLXNB1 NM_002673 human genbank 54_36p -1 validated missense c.5279 p.G1760A 0.002 HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,PatternScan_IG_MHC,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP,PatternScan_LIPOCALIN - no_errors SNTG1 54212 genome.wustl.edu 36 8 51611911 51611911 + Missense_Mutation SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 8 51611911 51611911 G T SNP SNTG1 NM_018967 human genbank 54_36p +1 reviewed missense c.670 p.D224Y 0.999 HMMSmart_SM00233,superfamily_PH domain-like superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00233,superfamily_PH domain-like - no_errors RNF43 54894 genome.wustl.edu 36 17 53795918 53795918 + Missense_Mutation SNP C C G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 17 53795918 53795918 C G SNP RNF43 NM_017763 human genbank 54_36p -1 validated missense c.418 p.D140H 1.000 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors OPRK1 4986 genome.wustl.edu 36 8 54304752 54304752 + Silent SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 8 54304752 54304752 G A SNP OPRK1 NM_000912 human genbank 54_36p -1 validated silent c.801 p.R267 0.985 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PCSK9 255738 genome.wustl.edu 36 1 55299813 55299813 + Missense_Mutation SNP A A T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 55299813 55299813 A T SNP PCSK9 NM_174936 human genbank 54_36p +1 reviewed missense c.1859 p.E620V 0.831 NULL superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8 - no_errors ZNF713 349075 genome.wustl.edu 36 7 55947872 55947872 + Nonsense_Mutation SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 7 55947872 55947872 G T SNP ZNF713 NM_182633 human genbank 54_36p +1 provisional nonsense c.10 p.E4* 0.041 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors C8B 732 genome.wustl.edu 36 1 57198428 57198428 + Missense_Mutation SNP C C A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 57198428 57198428 C A SNP C8B NM_000066 human genbank 54_36p -1 reviewed missense c.102 p.R34S 0.339 NULL superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_SM00457,PatternScan_MAC_PERFORIN,PatternScan_EGF_1 - no_errors FAM3D 131177 genome.wustl.edu 36 3 58610089 58610089 + Missense_Mutation SNP C C G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 3 58610089 58610089 C G SNP FAM3D NM_138805 human genbank 54_36p -1 validated missense c.138 p.K46N 0.005 NULL NULL - no_errors C20orf166 128826 genome.wustl.edu 36 20 60572750 60572750 + Missense_Mutation SNP C C G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 20 60572750 60572750 C G SNP C20orf166 NM_178463 human genbank 54_36p +1 validated missense c.118 p.Q40E 0.908 NULL NULL - no_errors NLRP13 126204 genome.wustl.edu 36 19 61114925 61114925 + Silent SNP A A G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 19 61114925 61114925 A G SNP NLRP13 NM_176810 human genbank 54_36p -1 validated silent c.2070 p.S690 0.016 superfamily_SSF52047 superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMPfam_LRR_1 - no_errors USP29 57663 genome.wustl.edu 36 19 62332659 62332659 + Silent SNP A A G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 19 62332659 62332659 A G SNP USP29 NM_020903 human genbank 54_36p +1 validated silent c.804 p.R268 0.000 NULL superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors TK2 7084 genome.wustl.edu 36 16 65133288 65133288 + Missense_Mutation SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 16 65133288 65133288 C T SNP TK2 NM_004614 human genbank 54_36p -1 validated missense c.352 p.V118I 0.009 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_dNK - no_errors MDM1 56890 genome.wustl.edu 36 12 67003271 67003271 + Missense_Mutation SNP C C G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 12 67003271 67003271 C G SNP MDM1 NM_017440 human genbank 54_36p -1 reviewed missense c.650 p.S217T 0.976 NULL NULL - no_errors SLC16A2 6567 genome.wustl.edu 36 X 73662389 73662389 + Missense_Mutation SNP T T A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 X 73662389 73662389 T A SNP SLC16A2 NM_006517 human genbank 54_36p +1 reviewed missense c.1328 p.L443H 0.997 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors PCSK5 5125 genome.wustl.edu 36 9 77900754 77900754 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 9 77900754 77900754 C T SNP PCSK5 NM_006200 human genbank 54_36p +1 reviewed silent c.1023 p.S341 0.988 superfamily_Subtilisin-like,HMMPfam_Peptidase_S8 superfamily_Protease propeptides/inhibitors,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Galactose-binding domain-like,HMMPfam_P_proprotein,HMMSmart_SM00261,superfamily_Growth factor receptor domain,HMMPfam_PLAC - no_errors FOXL1 2300 genome.wustl.edu 36 16 85170333 85170333 + Missense_Mutation SNP C C G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 16 85170333 85170333 C G SNP FOXL1 NM_005250 human genbank 54_36p +1 validated missense c.503 p.A168G 0.000 NULL HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2 - no_errors LOC100130211 0 genome.wustl.edu 36 X 85302093 85302093 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 X 85302093 85302093 G C SNP LOC100130211 XM_001717632 human genbank 54_36p -1 model missense c.908 p.S303C 1.000 HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain - pseudogene CA3 761 genome.wustl.edu 36 8 86545719 86545719 + Missense_Mutation SNP T T G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 8 86545719 86545719 T G SNP CA3 NM_005181 human genbank 54_36p +1 reviewed missense c.604 p.C202G 0.999 superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1 - no_errors CLCA2 9635 genome.wustl.edu 36 1 86686003 86686003 + Silent SNP A A G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 86686003 86686003 A G SNP CLCA2 NM_006536 human genbank 54_36p +1 reviewed silent c.1938 p.P646 0.003 HMMPfam_DUF1973 HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973 - no_errors LOC100130134 0 genome.wustl.edu 36 X 89181395 89181395 + RNA SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 X 89181395 89181395 G A SNP LOC100130134 XR_037810 human genbank 54_36p -1 model rna NULL NULL 0.584 - - - pseudogene NBN 4683 genome.wustl.edu 36 8 91064174 91064174 + Silent SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 8 91064174 91064174 G A SNP NBN NM_002485 human genbank 54_36p -1 reviewed silent c.123 p.I41 1.000 superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMPfam_BRCT,HMMPfam_Nbs1_C - no_errors HFM1 164045 genome.wustl.edu 36 1 91581615 91581615 + Silent SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 91581615 91581615 G A SNP HFM1 NM_001017975 human genbank 54_36p -1 validated silent c.2295 p.D765 0.147 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_Sec63 - no_errors SLC24A4 123041 genome.wustl.edu 36 14 92029717 92029717 + Missense_Mutation SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 14 92029717 92029717 G A SNP SLC24A4 NM_153646 human genbank 54_36p +1 validated missense c.1810 p.D604N 1.000 NULL HMMPfam_Na_Ca_ex - no_errors SERPINA10 51156 genome.wustl.edu 36 14 93826312 93826312 + Silent SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 14 93826312 93826312 G T SNP SERPINA10 NM_001100607 human genbank 54_36p -1 validated silent c.372 p.I124 0.000 superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN PatternScan_SERPIN,superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN - no_errors GPR183 1880 genome.wustl.edu 36 13 98745952 98745952 + Missense_Mutation SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 13 98745952 98745952 C T SNP GPR183 NM_004951 human genbank 54_36p -1 reviewed missense c.449 p.G150D 0.033 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors EIF3E 3646 genome.wustl.edu 36 8 109284823 109284823 + Missense_Mutation SNP T T C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 8 109284823 109284823 T C SNP EIF3E NM_001568 human genbank 54_36p -1 validated missense c.1147 p.K383E 1.000 "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" "HMMPfam_eIF3_N,HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" - no_errors CCDC112 153733 genome.wustl.edu 36 5 114633334 114633334 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 5 114633334 114633334 G C SNP CCDC112 NM_001040440 human genbank 54_36p -1 validated missense c.1393 p.Q465E 1.000 NULL NULL - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121478746 121478746 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 7 121478746 121478746 G C SNP PTPRZ1 NM_002851 human genbank 54_36p +1 reviewed missense c.6113 p.S2038T 1.000 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194 superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,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 SEC23IP 11196 genome.wustl.edu 36 10 121667531 121667531 + Missense_Mutation SNP G G T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 10 121667531 121667531 G T SNP SEC23IP NM_007190 human genbank 54_36p +1 reviewed missense c.1738 p.A580S 1.000 NULL superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD - no_errors LOC85390 0 genome.wustl.edu 36 11 122434950 122434950 + RNA SNP C C A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 11 122434950 122434950 C A SNP LOC85390 NR_001454 human genbank 54_36p -1 provisional rna NULL NULL 0.000 - - - no_errors ARGFX 503582 genome.wustl.edu 36 3 122787694 122787694 + Missense_Mutation SNP T T A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 3 122787694 122787694 T A SNP ARGFX NM_001012659 human genbank 54_36p +1 validated missense c.505 p.S169T 0.000 NULL superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors LAMC3 10319 genome.wustl.edu 36 9 132901495 132901495 + Missense_Mutation SNP C G G novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 9 132901495 132901495 C G SNP LAMC3 NM_006059 human genbank 54_36p +1 reviewed missense c.931 p.R311G 1.000 HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_LAM_1 HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2 - no_errors DPYSL4 10570 genome.wustl.edu 36 10 133862372 133862372 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 10 133862372 133862372 G C SNP DPYSL4 NM_006426 human genbank 54_36p +1 validated missense c.718 p.V240L 0.186 superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases - no_errors PCDHA1 56147 genome.wustl.edu 36 5 140147502 140147502 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 5 140147502 140147502 C T SNP PCDHA1 NM_018900 human genbank 54_36p +1 reviewed silent c.1443 p.D481 0.999 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors EPHB6 2051 genome.wustl.edu 36 7 142276497 142276497 + Missense_Mutation SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 7 142276497 142276497 G A SNP EPHB6 NM_004445 human genbank 54_36p +1 reviewed missense c.2119 p.V707M 0.462 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,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain - no_errors GPR20 2843 genome.wustl.edu 36 8 142436290 142436290 + Missense_Mutation SNP C C A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 8 142436290 142436290 C A SNP GPR20 NM_005293 human genbank 54_36p -1 validated missense c.916 p.A306S 1.000 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TSNARE1 203062 genome.wustl.edu 36 8 143379847 143379847 + Missense_Mutation SNP C C A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 8 143379847 143379847 C A SNP TSNARE1 NM_145003 human genbank 54_36p -1 validated missense c.1197 p.M399I 0.421 superfamily_t-snare superfamily_t-snare,HMMSmart_t_SNARE,HMMPfam_SNARE - no_errors RAET1G 353091 genome.wustl.edu 36 6 150282080 150282080 + Silent SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 6 150282080 150282080 G A SNP RAET1G NM_001001788 human genbank 54_36p -1 provisional silent c.423 p.L141 0.001 superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I - no_errors RPTN 126638 genome.wustl.edu 36 1 150394079 150394079 + Missense_Mutation SNP T C C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 150394079 150394079 T C SNP RPTN ENST00000316073 human ensembl 54_36p -1 known missense c.2120 p.E707G 0.011 NULL superfamily_EF-hand,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1 - no_errors FLG 2312 genome.wustl.edu 36 1 150550016 150550016 + Missense_Mutation SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 150550016 150550016 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.3970 p.D1324N 0.000 NULL superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin - no_errors LCE3A 353142 genome.wustl.edu 36 1 150861946 150861946 + Silent SNP C C T novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 150861946 150861946 C T SNP LCE3A NM_178431 human genbank 54_36p -1 validated silent c.258 p.A86 0.001 NULL PatternScan_PA2_HIS - no_errors GON4L 54856 genome.wustl.edu 36 1 154002463 154002463 + Missense_Mutation SNP G G A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 154002463 154002463 G A SNP GON4L NM_001037533 human genbank 54_36p -1 validated missense c.3425 p.S1142F 0.971 NULL superfamily_PAH2 domain,HMMPfam_PAH,superfamily_Homeodomain-like - no_errors GABRA1 2554 genome.wustl.edu 36 5 161256941 161256941 + Missense_Mutation SNP T T A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 5 161256941 161256941 T A SNP GABRA1 NM_000806 human genbank 54_36p +1 reviewed missense c.1306 p.L436I 1.000 superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_errors CCDC141 285025 genome.wustl.edu 36 2 179410309 179410309 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 2 179410309 179410309 G C SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional missense c.2157 p.F719L 0.297 NULL HMMPfam_I-set - no_errors CACNA1S 779 genome.wustl.edu 36 1 199348005 199348005 + Missense_Mutation SNP C C A novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 1 199348005 199348005 C A SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed missense c.86 p.R29L 1.000 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors IKZF2 22807 genome.wustl.edu 36 2 213580379 213580379 + Missense_Mutation SNP G G C novel unknown TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eff7cda6-896f-405a-9be5-101646050f80 ed6f126f-b6f9-4517-82a4-b24e9feef799 2 213580379 213580379 G C SNP IKZF2 NM_016260 human genbank 54_36p -1 reviewed missense c.1531 p.R511G 1.000 HMMSmart_SM00355 HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2 - no_errors