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 ENSG00000210194 0 genome.wustl.edu 36 MT 14675 14675 + RNA SNP T C C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf MT 14675 14675 T C SNP ENSG00000210194 ENST00000387459 human ensembl 54_36p -1 novel rna NULL NULL NULL - - - no_errors LOC100133120 0 genome.wustl.edu 36 7 57375 57375 + RNA SNP G A A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 7 57375 57375 G A SNP LOC100133120 XR_037156 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene C9orf66 157983 genome.wustl.edu 36 9 204631 204631 + Missense_Mutation SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 204631 204631 G C SNP C9orf66 NM_152569 human genbank 54_36p -1 validated missense c.766 p.R256G 0.016 NULL NULL - no_errors BAIAP3 8938 genome.wustl.edu 36 16 1334522 1334522 + Missense_Mutation SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 16 1334522 1334522 G C SNP BAIAP3 NM_003933 human genbank 54_36p +1 reviewed missense c.1759 p.E587Q 0.955 HMMPfam_DUF1041 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD - no_errors PROKR2 128674 genome.wustl.edu 36 20 5242584 5242584 + Missense_Mutation SNP A A T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 20 5242584 5242584 A T SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed missense c.432 p.N144K 0.987 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.095 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 SLC2A7 155184 genome.wustl.edu 36 1 9001021 9001021 + Missense_Mutation SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 9001021 9001021 C T SNP SLC2A7 NM_207420 human genbank 54_36p -1 provisional missense c.437 p.G146D 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2 superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1 - no_errors TYRP1 7306 genome.wustl.edu 36 9 12684160 12684160 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 12684160 12684160 G A SNP TYRP1 NM_000550 human genbank 54_36p +1 reviewed missense c.164 p.R55H 0.871 NULL superfamily_Di-copper_centre,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2 - no_errors PRAMEF4 400735 genome.wustl.edu 36 1 12862279 12862279 + Missense_Mutation SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 12862279 12862279 G T SNP PRAMEF4 NM_001009611 human genbank 54_36p -1 validated missense c.1110 p.N370K 0.000 superfamily_SSF52047 superfamily_SSF52047 - no_errors RAB9A 9367 genome.wustl.edu 36 X 13637312 13637312 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf X 13637312 13637312 G A SNP RAB9A NM_004251 human genbank 54_36p +1 provisional missense c.526 p.E176K 0.998 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00176 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors TMEM195 392636 genome.wustl.edu 36 7 15437178 15437178 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 7 15437178 15437178 C G SNP TMEM195 NM_001004320 human genbank 54_36p -1 provisional missense c.490 p.V164L 0.445 HMMPfam_FA_hydroxylase HMMPfam_FA_hydroxylase - no_errors ABCC6 368 genome.wustl.edu 36 16 16199444 16199444 + Missense_Mutation SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 16 16199444 16199444 G C SNP ABCC6 NM_001171 human genbank 54_36p -1 reviewed missense c.1273 p.L425V 0.523 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors TMEM161A 54929 genome.wustl.edu 36 19 19104235 19104235 + Nonsense_Mutation SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 19 19104235 19104235 G C SNP TMEM161A NM_017814 human genbank 54_36p -1 provisional nonsense c.369 p.Y123* 1.000 HMMPfam_Tmemb_161AB HMMPfam_Tmemb_161AB - no_errors UBR4 23352 genome.wustl.edu 36 1 19346004 19346004 + Silent SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 19346004 19346004 C T SNP UBR4 NM_020765 human genbank 54_36p -1 validated silent c.7707 p.V2569 1.000 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-UBR,HMMSmart_SM00396,PatternScan_ASP_GLU_RACEMASE_1 - no_errors C20orf26 26074 genome.wustl.edu 36 20 20004208 20004208 + Missense_Mutation SNP A A G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 20 20004208 20004208 A G SNP C20orf26 NM_015585 human genbank 54_36p +1 predicted missense c.515 p.H172R 0.002 NULL superfamily_Acyl-CoA N-acyltransferases (Nat),superfamily_FAD/NAD(P)-binding domain - no_errors SLC2A11 66035 genome.wustl.edu 36 22 22534383 22534383 + Silent SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 22 22534383 22534383 G A SNP SLC2A11 NM_030807 human genbank 54_36p +1 validated silent c.135 p.P45 0.978 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2 - no_errors AP1G2 8906 genome.wustl.edu 36 14 23100446 23100446 + Missense_Mutation SNP T T C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 14 23100446 23100446 T C SNP AP1G2 NM_003917 human genbank 54_36p -1 reviewed missense c.1892 p.D631G 0.625 NULL superfamily_ARM-type_fold,HMMPfam_Adaptin_N,superfamily_Clath_adapt,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2 - no_errors PRKCB 5579 genome.wustl.edu 36 16 24109960 24109960 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 16 24109960 24109960 G A SNP PRKCB NM_002738 human genbank 54_36p +1 reviewed missense c.1771 p.E591K 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C - no_errors BTN3A1 11119 genome.wustl.edu 36 6 26514158 26514158 + Missense_Mutation SNP T T C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 6 26514158 26514158 T C SNP BTN3A1 NM_007048 human genbank 54_36p +1 validated missense c.128 p.M43T 0.000 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors IL21R 50615 genome.wustl.edu 36 16 27353252 27353252 + Missense_Mutation SNP A A C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 16 27353252 27353252 A C SNP IL21R NM_021798 human genbank 54_36p +1 reviewed missense c.133 p.S45R 0.000 NULL superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1 - no_errors EIF2B4 8890 genome.wustl.edu 36 2 27441092 27441092 + Missense_Mutation SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 2 27441092 27441092 G C SNP EIF2B4 NM_172195 human genbank 54_36p -1 reviewed missense c.1429 p.L477V 1.000 superfamily_NagB/RpiA/CoA transferase-like,HMMPfam_IF-2B superfamily_NagB/RpiA/CoA transferase-like,HMMPfam_IF-2B - no_errors ATXN2L 11273 genome.wustl.edu 36 16 28755296 28755296 + Silent SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 16 28755296 28755296 G C SNP ATXN2L NM_148414 human genbank 54_36p +1 reviewed silent c.3288 p.L1096 1.000 NULL HMMPfam_LsmAD,HMMPfam_PAM2 - no_errors CD2BP2 10421 genome.wustl.edu 36 16 30273436 30273436 + Missense_Mutation SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 16 30273436 30273436 G T SNP CD2BP2 NM_006110 human genbank 54_36p -1 reviewed missense c.68 p.P23H 1.000 NULL superfamily_GYF domain,HMMPfam_GYF,HMMSmart_SM00444 - no_errors KRTAP6-3 337968 genome.wustl.edu 36 21 30886946 30886946 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 21 30886946 30886946 C G SNP KRTAP6-3 NM_181605 human genbank 54_36p +1 validated missense c.311 p.S104C 1.000 NULL NULL - no_errors FGD4 121512 genome.wustl.edu 36 12 32646416 32646416 + Missense_Mutation SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 12 32646416 32646416 G C SNP FGD4 NM_139241 human genbank 54_36p +1 reviewed missense c.891 p.K297N 1.000 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger - no_errors LTBP1 4052 genome.wustl.edu 36 2 33267290 33267290 + Silent SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 2 33267290 33267290 C T SNP LTBP1 NM_206943 human genbank 54_36p +1 reviewed silent c.1569 p.Y523 1.000 NULL superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors NPSR1 387129 genome.wustl.edu 36 7 34854713 34854713 + Missense_Mutation SNP T T C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 7 34854713 34854713 T C SNP NPSR1 NM_207173 human genbank 54_36p +1 reviewed missense c.938 p.V313A 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PIGO 84720 genome.wustl.edu 36 9 35081645 35081645 + Missense_Mutation SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 35081645 35081645 C A SNP PIGO NM_032634 human genbank 54_36p -1 reviewed missense c.2239 p.V747L 1.000 NULL superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest - no_errors STOML2 30968 genome.wustl.edu 36 9 35093081 35093081 + Missense_Mutation SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 35093081 35093081 C A SNP STOML2 NM_013442 human genbank 54_36p -1 provisional missense c.11 p.R4L 1.000 NULL HMMSmart_PHB,HMMPfam_Band_7 - no_errors GJD4 219770 genome.wustl.edu 36 10 35937096 35937096 + Missense_Mutation SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 10 35937096 35937096 G T SNP GJD4 NM_153368 human genbank 54_36p +1 validated missense c.649 p.V217F 0.000 HMMPfam_Connexin_CCC HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2 - no_errors DNAH8 1769 genome.wustl.edu 36 6 38883472 38883472 + Splice_Site SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 6 38883472 38883472 C G SNP DNAH8 NM_001371 human genbank 54_36p +1 validated splice_site c.2606+2 e20+2 0.988 - - - no_errors MAPKBP1 23005 genome.wustl.edu 36 15 39894760 39894760 + Silent SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 15 39894760 39894760 G A SNP MAPKBP1 NM_014994 human genbank 54_36p +1 validated silent c.1182 p.E394 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_PTS_HPR_SER - no_errors SLC8A1 6546 genome.wustl.edu 36 2 40509633 40509633 + Missense_Mutation SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 2 40509633 40509633 C A SNP SLC8A1 NM_021097 human genbank 54_36p -1 validated missense c.1292 p.R431L 1.000 HMMPfam_Calx-beta,HMMSmart_SM00237 HMMPfam_Na_Ca_ex,HMMPfam_Calx-beta,HMMSmart_SM00237 - no_errors ZNF607 84775 genome.wustl.edu 36 19 42892548 42892548 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 19 42892548 42892548 C G SNP ZNF607 NM_032689 human genbank 54_36p -1 provisional missense c.25 p.G9R 0.052 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors C1orf84 149469 genome.wustl.edu 36 1 43641858 43641858 + Splice_Site SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 43641858 43641858 G C SNP C1orf84 ENST00000406439 human ensembl 54_36p +1 known splice_site c.154-1 e3-1 1.000 - - - no_errors RASSF4 83937 genome.wustl.edu 36 10 44800399 44800399 + Missense_Mutation SNP T T C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 10 44800399 44800399 T C SNP RASSF4 NM_032023 human genbank 54_36p +1 reviewed missense c.506 p.I169T 1.000 NULL HMMSmart_SM00314,HMMPfam_RA - no_errors SPTBN4 57731 genome.wustl.edu 36 19 45699667 45699667 + Splice_Site SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 19 45699667 45699667 G C SNP SPTBN4 NM_020971 human genbank 54_36p +1 reviewed splice_site c.785-1 e7-1 1.000 - - - no_errors FAM113B 91523 genome.wustl.edu 36 12 45915659 45915659 + Silent SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 12 45915659 45915659 G T SNP FAM113B NM_138371 human genbank 54_36p +1 predicted silent c.546 p.R182 0.089 superfamily_SGNH hydrolase superfamily_SGNH hydrolase - no_errors VDR 7421 genome.wustl.edu 36 12 46525031 46525031 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 12 46525031 46525031 G A SNP VDR NM_000376 human genbank 54_36p -1 reviewed missense c.1049 p.A350V 0.165 superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors IP6K2 51447 genome.wustl.edu 36 3 48701981 48701981 + Silent SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 3 48701981 48701981 G A SNP IP6K2 NM_001005909 human genbank 54_36p -1 reviewed silent c.774 p.G258 1.000 superfamily_SAICAR synthase-like,HMMPfam_IPK superfamily_SAICAR synthase-like,HMMPfam_IPK - no_errors WDR6 11180 genome.wustl.edu 36 3 49025046 49025046 + Missense_Mutation SNP T T A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 3 49025046 49025046 T A SNP WDR6 NM_018031 human genbank 54_36p +1 reviewed missense c.1075 p.S359T 0.022 superfamily_WD40_like superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors PGBD3 267004 genome.wustl.edu 36 10 50394741 50394741 + Silent SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 10 50394741 50394741 G T SNP PGBD3 NM_170753 human genbank 54_36p -1 validated silent c.426 p.P142 0.827 NULL NULL - no_errors KRT80 144501 genome.wustl.edu 36 12 50860733 50860733 + Missense_Mutation SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 12 50860733 50860733 G T SNP KRT80 ENST00000301446 human ensembl 54_36p -1 known missense c.602 p.A201E 0.000 NULL HMMPfam_Filament - no_errors STAB1 23166 genome.wustl.edu 36 3 52530502 52530502 + Silent SNP T T C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 3 52530502 52530502 T C SNP STAB1 NM_015136 human genbank 54_36p +1 reviewed silent c.5994 p.R1998 0.012 superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMSmart_SM00180,HMMPfam_Laminin_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_LAM_1 superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,HMMSmart_SM00180,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_FAS1 domain,HMMSmart_SM00554,HMMPfam_Fasciclin,PatternScan_CYTOCHROME_P450,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_LAM_1,HMMPfam_Laminin_EGF,superfamily_Growth factor receptor domain,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1 - no_errors RFT1 91869 genome.wustl.edu 36 3 53101460 53101460 + Missense_Mutation SNP A A C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 3 53101460 53101460 A C SNP RFT1 NM_052859 human genbank 54_36p -1 reviewed missense c.1423 p.F475V 0.087 HMMPfam_Rft-1 HMMPfam_Rft-1 - no_errors CCNO 10309 genome.wustl.edu 36 5 54564900 54564900 + Missense_Mutation SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 5 54564900 54564900 C A SNP CCNO NM_021147 human genbank 54_36p -1 validated missense c.209 p.G70V 0.209 NULL superfamily_Cyclin-like,HMMPfam_Cyclin_N,HMMSmart_SM00385,HMMPfam_Cyclin_C - no_errors SYCP2 10388 genome.wustl.edu 36 20 57882356 57882356 + Missense_Mutation SNP A A T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 20 57882356 57882356 A T SNP SYCP2 NM_014258 human genbank 54_36p -1 reviewed missense c.3505 p.F1169I 0.000 NULL NULL - no_errors ENSG00000175885 0 genome.wustl.edu 36 19 57899587 57899587 + Silent SNP A A T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 19 57899587 57899587 A T SNP ENSG00000175885 ENST00000354515 human ensembl 54_36p -1 known silent c.135 p.L45 0.142 NULL NULL - no_errors LOC653753 0 genome.wustl.edu 36 19 58511117 58511117 + RNA SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 19 58511117 58511117 C A SNP LOC653753 XR_039415 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - pseudogene OGFR 11054 genome.wustl.edu 36 20 60914892 60914892 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 20 60914892 60914892 G A SNP OGFR NM_007346 human genbank 54_36p +1 reviewed missense c.1480 p.G494R 0.000 NULL HMMPfam_OGFr_N,HMMPfam_OGFr_III - no_errors EHBP1 23301 genome.wustl.edu 36 2 63077329 63077329 + Silent SNP A A T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 2 63077329 63077329 A T SNP EHBP1 NM_015252 human genbank 54_36p +1 validated silent c.3240 p.A1080 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033 - no_errors SPTB 6710 genome.wustl.edu 36 14 64305543 64305543 + Missense_Mutation SNP T T C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 14 64305543 64305543 T C SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.5984 p.N1995S 0.990 HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors CTSF 8722 genome.wustl.edu 36 11 66088958 66088958 + Missense_Mutation SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 11 66088958 66088958 C T SNP CTSF NM_003793 human genbank 54_36p -1 reviewed missense c.1141 p.V381M 0.921 superfamily_SSF54001,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1 PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Inhibitor_I29,superfamily_SSF54001,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS - no_errors PDE7A 5150 genome.wustl.edu 36 8 66801751 66801751 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 8 66801751 66801751 G A SNP PDE7A NM_002603 human genbank 54_36p -1 validated missense c.755 p.T252I 1.000 superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors MAP3K9 4293 genome.wustl.edu 36 14 70345300 70345300 + Silent SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 14 70345300 70345300 G A SNP MAP3K9 NM_033141 human genbank 54_36p -1 validated silent c.342 p.R114 0.824 superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Kinase_like superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Kinase_like,HMMSmart_TyrKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors TRPM3 80036 genome.wustl.edu 36 9 72651290 72651290 + Missense_Mutation SNP A A G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 72651290 72651290 A G SNP TRPM3 NM_001007471 human genbank 54_36p -1 reviewed missense c.500 p.L167P 1.000 NULL HMMPfam_Ion_trans - no_errors C2CD3 26005 genome.wustl.edu 36 11 73474382 73474382 + Missense_Mutation SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 11 73474382 73474382 G C SNP C2CD3 NM_015531 human genbank 54_36p -1 validated missense c.3839 p.A1280G 1.000 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239 HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2 - no_errors KIAA1618 57714 genome.wustl.edu 36 17 75852138 75852138 + Silent SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 17 75852138 75852138 C T SNP KIAA1618 NM_020954 human genbank 54_36p +1 validated silent c.63 p.C21 0.027 NULL NULL - no_errors ESRRB 2103 genome.wustl.edu 36 14 75975522 75975522 + Missense_Mutation SNP T T A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 14 75975522 75975522 T A SNP ESRRB NM_004452 human genbank 54_36p +1 reviewed missense c.73 p.S25T 1.000 NULL superfamily_SSF57716,HMMSmart_ZnF_C4,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep - no_errors ATMIN 23300 genome.wustl.edu 36 16 79634693 79634693 + Missense_Mutation SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 16 79634693 79634693 G T SNP ATMIN NM_015251 human genbank 54_36p +1 validated missense c.1089 p.K363N 0.441 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors RPS6KA6 27330 genome.wustl.edu 36 X 83237879 83237879 + Silent SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf X 83237879 83237879 G A SNP RPS6KA6 NM_014496 human genbank 54_36p -1 provisional silent c.1950 p.D650 0.990 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_SERPIN,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C - no_errors GPRIN3 285513 genome.wustl.edu 36 4 90388041 90388041 + Silent SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 4 90388041 90388041 C T SNP GPRIN3 NM_198281 human genbank 54_36p -1 validated silent c.2244 p.R748 1.000 NULL NULL - no_errors CCDC132 55610 genome.wustl.edu 36 7 92743496 92743496 + Silent SNP A A G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 7 92743496 92743496 A G SNP CCDC132 NM_017667 human genbank 54_36p +1 validated silent c.885 p.L295 0.989 HMMPfam_DUF2450 HMMPfam_DUF2450,HMMPfam_DUF2451 - no_errors ABCA4 24 genome.wustl.edu 36 1 94337125 94337125 + Missense_Mutation SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 94337125 94337125 C A SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.581 p.G194V 1.000 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors LOC100129158 0 genome.wustl.edu 36 6 99335080 99335080 + RNA SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 6 99335080 99335080 C T SNP LOC100129158 XR_038602 human genbank 54_36p -1 model rna NULL NULL 0.888 - - - pseudogene MIRN599 0 genome.wustl.edu 36 8 100618098 100618098 + RNA SNP G G C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 8 100618098 100618098 G C SNP MIRN599 ENST00000385069 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors MTA1 9112 genome.wustl.edu 36 14 105000926 105000926 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 14 105000926 105000926 C G SNP MTA1 NM_004689 human genbank 54_36p +1 reviewed missense c.1069 p.P357A 1.000 NULL HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_ELM2,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like,HMMSmart_SM00401,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_GATA - no_errors CALHM2 51063 genome.wustl.edu 36 10 105199171 105199171 + Missense_Mutation SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 10 105199171 105199171 C T SNP CALHM2 NM_015916 human genbank 54_36p -1 validated missense c.518 p.R173Q 0.912 NULL NULL - no_errors COL4A6 1288 genome.wustl.edu 36 X 107290530 107290530 + Silent SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf X 107290530 107290530 C T SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed silent c.4347 p.G1449 0.549 NULL HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like - no_errors C9orf4 23732 genome.wustl.edu 36 9 110939698 110939698 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 110939698 110939698 G A SNP C9orf4 NM_014334 human genbank 54_36p -1 validated missense c.893 p.P298L 1.000 HMMSmart_DoH HMMSmart_DoH,HMMPfam_DOMON - no_errors QTRTD1 79691 genome.wustl.edu 36 3 115272266 115272266 + Missense_Mutation SNP A A G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 3 115272266 115272266 A G SNP QTRTD1 NM_024638 human genbank 54_36p +1 provisional missense c.437 p.D146G 1.000 superfamily_tRNA_ribo_trans,HMMPfam_TGT superfamily_tRNA_ribo_trans,HMMPfam_TGT - no_errors DPP10 57628 genome.wustl.edu 36 2 116310269 116310269 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 2 116310269 116310269 G A SNP DPP10 NM_020868 human genbank 54_36p +1 reviewed missense c.2017 p.V673M 1.000 superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9 superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9 - no_errors PAPPA 5069 genome.wustl.edu 36 9 118013756 118013756 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 118013756 118013756 C G SNP PAPPA NM_002581 human genbank 54_36p +1 reviewed missense c.1642 p.P548A 1.000 superfamily_SSF55486 superfamily_ConA_like_lec_gl,HMMSmart_LamGL,superfamily_SSF55486,HMMPfam_Notch,HMMSmart_NL,PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M43,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors P2RX7 5027 genome.wustl.edu 36 12 120106751 120106751 + Silent SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 12 120106751 120106751 C G SNP P2RX7 NM_002562 human genbank 54_36p +1 reviewed silent c.1551 p.V517 0.950 NULL HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR - no_errors INPP5F 22876 genome.wustl.edu 36 10 121557532 121557532 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 10 121557532 121557532 C G SNP INPP5F NM_014937 human genbank 54_36p +1 reviewed missense c.1539 p.S513R 1.000 NULL HMMPfam_Syja_N - no_errors GSN 2934 genome.wustl.edu 36 9 123119230 123119230 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 123119230 123119230 G A SNP GSN NM_000177 human genbank 54_36p +1 reviewed missense c.952 p.E318K 1.000 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin - no_errors C10orf90 118611 genome.wustl.edu 36 10 128137606 128137606 + Silent SNP A A C novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 10 128137606 128137606 A C SNP C10orf90 NM_001004298 human genbank 54_36p -1 validated silent c.1890 p.P630 0.998 NULL NULL - no_errors STXBP1 6812 genome.wustl.edu 36 9 129463266 129463266 + Silent SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 129463266 129463266 G T SNP STXBP1 NM_003165 human genbank 54_36p +1 provisional silent c.390 p.L130 1.000 superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1 superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1 - no_errors NUP205 23165 genome.wustl.edu 36 7 134938181 134938181 + Silent SNP A A G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 7 134938181 134938181 A G SNP NUP205 NM_015135 human genbank 54_36p +1 validated silent c.2601 p.L867 0.994 NULL NULL - no_errors MAP3K5 4217 genome.wustl.edu 36 6 136976001 136976001 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 6 136976001 136976001 C A SNP MAP3K5 NM_005923 human genbank 54_36p -1 reviewed nonsense c.2365 p.E789* 1.000 HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology - no_errors OLFM1 10439 genome.wustl.edu 36 9 137127668 137127668 + Silent SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 9 137127668 137127668 C T SNP OLFM1 NM_006334 human genbank 54_36p +1 reviewed silent c.384 p.H128 1.000 NULL NULL - no_errors PCDHB8 56128 genome.wustl.edu 36 5 140539016 140539016 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 5 140539016 140539016 C G SNP PCDHB8 NM_019120 human genbank 54_36p +1 reviewed missense c.1217 p.T406R 0.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors RORC 6097 genome.wustl.edu 36 1 150055905 150055905 + Missense_Mutation SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 150055905 150055905 C T SNP RORC NM_005060 human genbank 54_36p -1 reviewed missense c.157 p.G53S 1.000 HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1 HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors KPRP 448834 genome.wustl.edu 36 1 151000372 151000372 + Missense_Mutation SNP G G T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 151000372 151000372 G T SNP KPRP NM_001025231 human genbank 54_36p +1 provisional missense c.1684 p.D562Y 0.967 NULL NULL - no_errors NMUR2 56923 genome.wustl.edu 36 5 151764813 151764813 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 5 151764813 151764813 C G SNP NMUR2 NM_020167 human genbank 54_36p -1 reviewed missense c.55 p.E19Q 0.001 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 OR10J5 127385 genome.wustl.edu 36 1 157771858 157771858 + Silent SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 157771858 157771858 G A SNP OR10J5 NM_001004469 human genbank 54_36p -1 provisional silent c.564 p.C188 0.219 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors ENSG00000188668 0 genome.wustl.edu 36 2 159427376 159427376 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 2 159427376 159427376 C G SNP ENSG00000188668 ENST00000343761 human ensembl 54_36p +1 known missense c.179 p.S60C 0.701 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors PPIG 9360 genome.wustl.edu 36 2 170201625 170201625 + Silent SNP A A G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 2 170201625 170201625 A G SNP PPIG NM_004792 human genbank 54_36p +1 validated silent c.1611 p.E537 0.923 NULL superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 - no_errors NSD1 64324 genome.wustl.edu 36 5 176597881 176597881 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 5 176597881 176597881 G A SNP NSD1 NM_022455 human genbank 54_36p +1 reviewed missense c.3959 p.R1320Q 0.998 NULL superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors TBC1D9B 23061 genome.wustl.edu 36 5 179267421 179267421 + Silent SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 5 179267421 179267421 G A SNP TBC1D9B NM_198868 human genbank 54_36p -1 validated silent c.7 p.L3 1.000 NULL HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand,HMMPfam_efhand - no_errors FXR1 8087 genome.wustl.edu 36 3 182168663 182168663 + Silent SNP A A T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 3 182168663 182168663 A T SNP FXR1 NM_005087 human genbank 54_36p +1 reviewed silent c.1329 p.G443 1.000 NULL HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors EXO1 9156 genome.wustl.edu 36 1 240082272 240082272 + Missense_Mutation SNP C C A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 240082272 240082272 C A SNP EXO1 NM_006027 human genbank 54_36p +1 reviewed missense c.217 p.P73T 1.000 HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1 HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279 - no_errors STK25 10494 genome.wustl.edu 36 2 242087229 242087229 + Missense_Mutation SNP C C T novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 2 242087229 242087229 C T SNP STK25 NM_006374 human genbank 54_36p -1 provisional missense c.619 p.E207K 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP - no_errors C1orf101 257044 genome.wustl.edu 36 1 242823339 242823339 + Missense_Mutation SNP C C G novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 242823339 242823339 C G SNP C1orf101 NM_173807 human genbank 54_36p +1 validated missense c.2209 p.P737A 0.005 NULL NULL - no_errors OR2M2 391194 genome.wustl.edu 36 1 246410419 246410419 + Missense_Mutation SNP G G A novel unknown TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx fe930e94-15b5-426d-b383-0c76fdee9532 b5233d4e-e526-4f15-8470-a1d8271359cf 1 246410419 246410419 G A SNP OR2M2 NM_001004688 human genbank 54_36p +1 provisional missense c.509 p.G170E 0.018 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors