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 FAM108A1 81926 genome.wustl.edu 36 19 1832453 1832453 + Missense_Mutation SNP A A C novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 19 1832453 1832453 A C SNP FAM108A1 NM_031213 human genbank 54_36p -1 validated missense c.113 p.V38G 0.998 PatternScan_TONB_DEPENDENT_REC_1,superfamily_alpha/beta-Hydrolases PatternScan_TONB_DEPENDENT_REC_1,superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_2 - no_errors SRRM2 23524 genome.wustl.edu 36 16 2755986 2755986 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 16 2755986 2755986 G A SNP SRRM2 NM_016333 human genbank 54_36p +1 validated missense c.5456 p.G1819D 1.000 NULL HMMPfam_cwf21 - no_errors FUT3 2525 genome.wustl.edu 36 19 5794995 5794995 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 19 5794995 5794995 G A SNP FUT3 NM_000149 human genbank 54_36p -1 reviewed missense c.856 p.P286S 0.668 HMMPfam_Glyco_transf_10 HMMPfam_Glyco_transf_10 - no_errors C12orf57 113246 genome.wustl.edu 36 12 6925230 6925230 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 12 6925230 6925230 G A SNP C12orf57 NM_138425 human genbank 54_36p +1 provisional missense c.265 p.E89K 1.000 NULL NULL - no_errors TP53 7157 genome.wustl.edu 36 17 7520038 7520038 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 17 7520038 7520038 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.374 p.T125M 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 MYH8 4626 genome.wustl.edu 36 17 10245175 10245175 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 17 10245175 10245175 C T SNP MYH8 NM_002472 human genbank 54_36p -1 validated missense c.3167 p.R1056Q 1.000 NULL HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors ELOVL2 54898 genome.wustl.edu 36 6 11118969 11118969 + Silent SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 6 11118969 11118969 C T SNP ELOVL2 NM_017770 human genbank 54_36p -1 validated silent c.63 p.P21 1.000 NULL HMMPfam_ELO,PatternScan_ELO - no_errors MYOCD 93649 genome.wustl.edu 36 17 12607647 12607647 + Missense_Mutation SNP T T A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 17 12607647 12607647 T A SNP MYOCD NM_153604 human genbank 54_36p +1 provisional missense c.2778 p.N926K 0.993 NULL HMMSmart_SM00707,superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513 - no_errors RFX1 5989 genome.wustl.edu 36 19 13938444 13938444 + Splice_Site SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 19 13938444 13938444 C A SNP RFX1 NM_002918 human genbank 54_36p -1 reviewed splice_site c.1851+1 e12+1 1.000 - - - no_errors ITGA8 8516 genome.wustl.edu 36 10 15687738 15687738 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 10 15687738 15687738 G A SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional missense c.1961 p.S654L 0.993 HMMPfam_Integrin_alpha2,superfamily_SSF69179 superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors LOC388514 388514 genome.wustl.edu 36 19 15743966 15743966 + RNA SNP T T A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 19 15743966 15743966 T A SNP LOC388514 XR_017598 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - no_errors ABCC6 368 genome.wustl.edu 36 16 16174750 16174750 + Silent SNP T T G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 16 16174750 16174750 T G SNP ABCC6 NM_001171 human genbank 54_36p -1 reviewed silent c.2679 p.S893 0.000 NULL 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 MSTP9 11223 genome.wustl.edu 36 1 16959866 16959866 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 1 16959866 16959866 C T SNP MSTP9 ENST00000334998 human ensembl 54_36p -1 known missense c.305 p.R102H 1.000 HMMPfam_PAN_1,superfamily_Hairpin loop containing domain-like,HMMSmart_SM00473,HMMSmart_SM00130 HMMPfam_PAN_1,superfamily_Hairpin loop containing domain-like,HMMSmart_SM00473,HMMSmart_SM00130,HMMPfam_Kringle,superfamily_Kringle-like,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin - no_errors CILP2 148113 genome.wustl.edu 36 19 19512023 19512023 + Missense_Mutation SNP G G C novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 19 19512023 19512023 G C SNP CILP2 NM_153221 human genbank 54_36p +1 validated missense c.174 p.E58D 1.000 NULL superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_CarboxypepD_reg,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 - no_errors PPM1F 9647 genome.wustl.edu 36 22 20607487 20607487 + Missense_Mutation SNP G G T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 22 20607487 20607487 G T SNP PPM1F NM_014634 human genbank 54_36p -1 reviewed missense c.1343 p.T448N 0.039 NULL superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG,PatternScan_PP2C - no_errors BCR 613 genome.wustl.edu 36 22 21926071 21926071 + Nonsense_Mutation SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 22 21926071 21926071 C G SNP BCR NM_004327 human genbank 54_36p +1 reviewed nonsense c.1365 p.Y455* 1.000 NULL superfamily_Bcr-Abl oncoprotein oligomerization domain,HMMPfam_Bcr-Abl_Oligo,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors RBBP6 5930 genome.wustl.edu 36 16 24488810 24488810 + Nonsense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 16 24488810 24488810 C T SNP RBBP6 NM_006910 human genbank 54_36p +1 reviewed nonsense c.3298 p.Q1100* 1.000 NULL HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00184 - no_errors SSH2 85464 genome.wustl.edu 36 17 24987265 24987265 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 17 24987265 24987265 C A SNP SSH2 NM_033389 human genbank 54_36p -1 reviewed missense c.2028 p.M676I 0.996 NULL HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1 - no_errors IL21R 50615 genome.wustl.edu 36 16 27364870 27364870 + Missense_Mutation SNP T T G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 16 27364870 27364870 T G SNP IL21R NM_021798 human genbank 54_36p +1 reviewed missense c.827 p.F276C 0.965 NULL superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1 - no_errors LOC390561 390561 genome.wustl.edu 36 15 28874034 28874034 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 15 28874034 28874034 G A SNP LOC390561 XM_001726958 human genbank 54_36p +1 model missense c.1328 p.C443Y 1.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HLA-E 3133 genome.wustl.edu 36 6 30565631 30565631 + Missense_Mutation SNP T T A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 6 30565631 30565631 T A SNP HLA-E NM_005516 human genbank 54_36p +1 reviewed missense c.214 p.W72R 0.253 HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,HMMPfam_C1-set,superfamily_SSF48726,HMMSmart_IGc1,PatternScan_IG_MHC - no_errors ORAI3 93129 genome.wustl.edu 36 16 30872539 30872539 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 16 30872539 30872539 C A SNP ORAI3 NM_152288 human genbank 54_36p +1 validated missense c.761 p.P254H 1.000 HMMPfam_DUF1650 HMMPfam_DUF1650 - no_errors PHF1 5252 genome.wustl.edu 36 6 33490115 33490115 + Silent SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 6 33490115 33490115 G A SNP PHF1 NM_024165 human genbank 54_36p +1 reviewed silent c.870 p.L290 0.963 NULL HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors PDHX 8050 genome.wustl.edu 36 11 34935519 34935519 + Missense_Mutation SNP A A G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 11 34935519 34935519 A G SNP PDHX NM_003477 human genbank 54_36p +1 validated missense c.355 p.S119G 0.965 superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl,PatternScan_LIPOYL,superfamily_E3_bd,HMMPfam_E3_binding,HMMPfam_2-oxoacid_dh,superfamily_SSF52777 - no_errors SRC 6714 genome.wustl.edu 36 20 35455772 35455772 + Silent SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 20 35455772 35455772 C T SNP SRC NM_005417 human genbank 54_36p +1 reviewed silent c.411 p.S137 1.000 superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors MLH1 4292 genome.wustl.edu 36 3 37036955 37036955 + Silent SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 3 37036955 37036955 C G SNP MLH1 NM_000249 human genbank 54_36p +1 reviewed silent c.1035 p.T345 0.997 NULL superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_mis_repair - no_errors THBS1 7057 genome.wustl.edu 36 15 37673108 37673108 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 15 37673108 37673108 C A SNP THBS1 NM_003246 human genbank 54_36p +1 reviewed missense c.3214 p.P1072T 0.999 superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_TSP_C HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_TSP type-3 repeat,HMMPfam_TSP_3,HMMPfam_TSP_C - no_errors PNN 5411 genome.wustl.edu 36 14 38719777 38719777 + Missense_Mutation SNP G G C novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 14 38719777 38719777 G C SNP PNN NM_002687 human genbank 54_36p +1 validated missense c.1113 p.E371D 0.987 NULL HMMPfam_Pinin_SDK_N,HMMPfam_Pinin_SDK_memA - no_errors LRRK2 120892 genome.wustl.edu 36 12 38931437 38931437 + Missense_Mutation SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 12 38931437 38931437 C G SNP LRRK2 NM_198578 human genbank 54_36p +1 reviewed missense c.1095 p.H365Q 0.974 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2 - no_errors XIRP1 165904 genome.wustl.edu 36 3 39200781 39200781 + Silent SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 3 39200781 39200781 C T SNP XIRP1 NM_194293 human genbank 54_36p -1 provisional silent c.5160 p.G1720 0.000 NULL HMMPfam_Xin - no_errors ZNF33B 7582 genome.wustl.edu 36 10 42408074 42408074 + Missense_Mutation SNP T T C novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 10 42408074 42408074 T C SNP ZNF33B NM_006955 human genbank 54_36p -1 provisional missense c.2330 p.Y777C 0.010 superfamily_SSF57667 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ENOX1 55068 genome.wustl.edu 36 13 42770524 42770524 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 13 42770524 42770524 C A SNP ENOX1 NM_017993 human genbank 54_36p -1 validated missense c.1404 p.Q468H 1.000 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors PTK7 5754 genome.wustl.edu 36 6 43208346 43208346 + Missense_Mutation SNP T T A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 6 43208346 43208346 T A SNP PTK7 NM_002821 human genbank 54_36p +1 reviewed missense c.1171 p.C391S 1.000 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR - no_errors NETO2 81831 genome.wustl.edu 36 16 45674753 45674753 + Silent SNP T T C novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 16 45674753 45674753 T C SNP NETO2 NM_018092 human genbank 54_36p -1 reviewed silent c.1458 p.K486 1.000 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1 - no_errors IGFBP1 3484 genome.wustl.edu 36 7 45898111 45898111 + Missense_Mutation SNP A A G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 7 45898111 45898111 A G SNP IGFBP1 NM_000596 human genbank 54_36p +1 reviewed missense c.575 p.E192G 1.000 superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1 HMMSmart_SM00121,HMMPfam_IGFBP,PatternScan_IGFBP_N_1,superfamily_Growth factor receptor domain,superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211 - no_errors RSAD1 55316 genome.wustl.edu 36 17 45917146 45917146 + Silent SNP T T A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 17 45917146 45917146 T A SNP RSAD1 NM_018346 human genbank 54_36p +1 provisional silent c.1254 p.S418 0.939 superfamily_SSF102114 superfamily_SSF102114,HMMSmart_Elp3,HMMPfam_Radical_SAM,HMMPfam_HemN_C - no_errors PREX1 57580 genome.wustl.edu 36 20 46677883 46677883 + Missense_Mutation SNP G G T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 20 46677883 46677883 G T SNP PREX1 NM_020820 human genbank 54_36p -1 reviewed missense c.4792 p.Q1598K 1.000 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_PDZ domain-like,HMMSmart_SM00228" - no_errors GABRB1 2560 genome.wustl.edu 36 4 47122766 47122766 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 4 47122766 47122766 G A SNP GABRB1 NM_000812 human genbank 54_36p +1 reviewed missense c.1399 p.V467I 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 FBXW12 285231 genome.wustl.edu 36 3 48395934 48395934 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 3 48395934 48395934 C A SNP FBXW12 NM_207102 human genbank 54_36p +1 provisional missense c.656 p.P219H 0.023 superfamily_WD40_like PatternScan_WD_REPEATS_1,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383,superfamily_WD40_like - no_errors MAPK6 5597 genome.wustl.edu 36 15 50143927 50143927 + Missense_Mutation SNP T T A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 15 50143927 50143927 T A SNP MAPK6 NM_002748 human genbank 54_36p +1 reviewed missense c.1604 p.I535N 1.000 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors FAM124A 220108 genome.wustl.edu 36 13 50723733 50723733 + Missense_Mutation SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 13 50723733 50723733 C G SNP FAM124A NM_145019 human genbank 54_36p +1 predicted missense c.337 p.P113A 0.992 NULL NULL - no_errors KRT85 3891 genome.wustl.edu 36 12 51041079 51041079 + Missense_Mutation SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 12 51041079 51041079 C G SNP KRT85 NM_002283 human genbank 54_36p -1 reviewed missense c.1349 p.G450A 0.533 NULL HMMPfam_Filament,PatternScan_IF - no_errors KRT76 51350 genome.wustl.edu 36 12 51457047 51457047 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 12 51457047 51457047 C A SNP KRT76 NM_015848 human genbank 54_36p -1 validated missense c.296 p.G99V 0.181 NULL HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors ST18 9705 genome.wustl.edu 36 8 53211716 53211716 + Missense_Mutation SNP A A T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 8 53211716 53211716 A T SNP ST18 NM_014682 human genbank 54_36p -1 validated missense c.2287 p.S763T 1.000 superfamily_SSF103637 superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1 - no_errors HRC 3270 genome.wustl.edu 36 19 54350008 54350008 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 19 54350008 54350008 C A SNP HRC NM_002152 human genbank 54_36p -1 reviewed missense c.299 p.G100V 0.006 NULL HMMPfam_Hist_rich_Ca-bd - no_errors C19orf63 284361 genome.wustl.edu 36 19 55674111 55674111 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 19 55674111 55674111 C A SNP C19orf63 NM_206538 human genbank 54_36p +1 validated missense c.273 p.S91R 0.634 NULL NULL - no_errors OR5B2 390190 genome.wustl.edu 36 11 57947047 57947047 + Missense_Mutation SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 11 57947047 57947047 C G SNP OR5B2 NM_001005566 human genbank 54_36p -1 provisional missense c.264 p.K88N 0.000 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 PRPF6 24148 genome.wustl.edu 36 20 62101427 62101427 + Silent SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 20 62101427 62101427 C A SNP PRPF6 NM_012469 human genbank 54_36p +1 reviewed silent c.894 p.L298 1.000 HMMSmart_HAT,superfamily_SSF48452 HMMPfam_PRP1_N,HMMSmart_HAT,superfamily_SSF48452,HMMPfam_TPR_1 - no_errors AR 367 genome.wustl.edu 36 X 66682345 66682345 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 X 66682345 66682345 C T SNP AR NM_000044 human genbank 54_36p +1 reviewed missense c.632 p.A211V 0.661 HMMPfam_Androgen_recep HMMPfam_Androgen_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 TBC1D10C 374403 genome.wustl.edu 36 11 66930933 66930933 + Missense_Mutation SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 11 66930933 66930933 C G SNP TBC1D10C NM_198517 human genbank 54_36p +1 provisional missense c.708 p.H236Q 0.123 HMMSmart_TBC,HMMPfam_TBC,superfamily_RabGAP_TBC superfamily_RabGAP_TBC,HMMSmart_TBC,HMMPfam_TBC - no_errors WDR78 79819 genome.wustl.edu 36 1 67109739 67109739 + Nonsense_Mutation SNP A A C novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 1 67109739 67109739 A C SNP WDR78 NM_024763 human genbank 54_36p -1 validated nonsense c.842 p.L281* 0.472 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors HYDIN 54768 genome.wustl.edu 36 16 69754074 69754074 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 16 69754074 69754074 C T SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.577 p.A193T 1.000 superfamily_PapD-like superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ITGB4 3691 genome.wustl.edu 36 17 71245005 71245005 + Silent SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 17 71245005 71245005 G A SNP ITGB4 NM_000213 human genbank 54_36p +1 reviewed silent c.1998 p.E666 0.981 superfamily_Integrin beta tail domain,HMMPfam_Integrin_B_tail HMMSmart_SM00423,HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like,superfamily_Integrin domains,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_INTEGRIN_BETA,HMMPfam_EGF_2,superfamily_Integrin beta tail domain,HMMPfam_Integrin_B_tail,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors GLG1 2734 genome.wustl.edu 36 16 73198405 73198405 + Missense_Mutation SNP A A C novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 16 73198405 73198405 A C SNP GLG1 NM_012201 human genbank 54_36p -1 validated missense c.89 p.L30R 0.022 NULL HMMPfam_Cys_rich_FGFR - no_errors LOC729545 729545 genome.wustl.edu 36 7 76520425 76520425 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 7 76520425 76520425 C T SNP LOC729545 XM_001722895 human genbank 54_36p -1 model missense c.106 p.E36K 0.009 NULL NULL - no_errors FASN 2194 genome.wustl.edu 36 17 77646616 77646616 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 17 77646616 77646616 C T SNP FASN NM_004104 human genbank 54_36p -1 reviewed missense c.149 p.R50Q 1.000 superfamily_Thiolase-like,HMMPfam_ketoacyl-synt superfamily_Thiolase-like,HMMPfam_ketoacyl-synt,PatternScan_B_KETOACYL_SYNTHASE,HMMPfam_Ketoacyl-synt_C,superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_12,superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N,HMMPfam_adh_short,superfamily_ACP-like,HMMPfam_PP-binding,PatternScan_PHOSPHOPANTETHEINE,superfamily_alpha/beta-Hydrolases,HMMPfam_Thioesterase - no_errors SLC26A7 115111 genome.wustl.edu 36 8 92424811 92424811 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 8 92424811 92424811 C A SNP SLC26A7 NM_134266 human genbank 54_36p +1 reviewed missense c.1081 p.P361T 1.000 HMMPfam_Sulfate_transp HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS - no_errors KIAA1429 25962 genome.wustl.edu 36 8 95574202 95574202 + Missense_Mutation SNP T T G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 8 95574202 95574202 T G SNP KIAA1429 NM_015496 human genbank 54_36p -1 validated missense c.4662 p.E1554D 0.995 NULL NULL - no_errors TMEM45A 55076 genome.wustl.edu 36 3 101756852 101756852 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 3 101756852 101756852 G A SNP TMEM45A NM_018004 human genbank 54_36p +1 provisional missense c.107 p.R36Q 0.200 NULL HMMPfam_DUF716 - no_errors GRHL2 79977 genome.wustl.edu 36 8 102651799 102651799 + Splice_Site SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 8 102651799 102651799 G A SNP GRHL2 NM_024915 human genbank 54_36p +1 validated splice_site c.734+1 e5+1 1.000 - - - no_errors NXT2 55916 genome.wustl.edu 36 X 108665854 108665854 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 X 108665854 108665854 C A SNP NXT2 NM_018698 human genbank 54_36p +1 provisional missense c.87 p.S29R 0.000 NULL superfamily_SSF54427,HMMPfam_NTF2 - no_errors PLS3 5358 genome.wustl.edu 36 X 114770402 114770402 + Splice_Site SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 X 114770402 114770402 G A SNP PLS3 NM_005032 human genbank 54_36p +1 reviewed splice_site c.368-1 e4-1 1.000 - - - no_errors DSE 29940 genome.wustl.edu 36 6 116854684 116854684 + Splice_Site SNP G G T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 6 116854684 116854684 G T SNP DSE NM_001080976 human genbank 54_36p +1 reviewed splice_site c.670+1 e2+1 1.000 - - - no_errors WARS2 10352 genome.wustl.edu 36 1 119377371 119377371 + Missense_Mutation SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 1 119377371 119377371 C G SNP WARS2 NM_015836 human genbank 54_36p -1 reviewed missense c.769 p.D257H 0.997 HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I - no_errors NIACR1 338442 genome.wustl.edu 36 12 121752752 121752752 + Silent SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 12 121752752 121752752 C G SNP NIACR1 NM_177551 human genbank 54_36p -1 validated silent c.1032 p.A344 0.000 NULL superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors GRIA3 2892 genome.wustl.edu 36 X 122360286 122360286 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 X 122360286 122360286 C T SNP GRIA3 NM_000828 human genbank 54_36p +1 reviewed missense c.1031 p.P344L 1.000 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors ASAM 79827 genome.wustl.edu 36 11 122449534 122449534 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 11 122449534 122449534 C A SNP ASAM NM_024769 human genbank 54_36p -1 validated missense c.980 p.G327V 0.514 NULL superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMSmart_IGc2,HMMPfam_ig - no_errors LOC389322 389322 genome.wustl.edu 36 5 126876363 126876363 + RNA SNP A A T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 5 126876363 126876363 A T SNP LOC389322 XR_016670 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene SLC27A4 10999 genome.wustl.edu 36 9 130157209 130157209 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 9 130157209 130157209 G A SNP SLC27A4 NM_005094 human genbank 54_36p +1 provisional missense c.1381 p.D461N 0.996 superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_LIPOCALIN,PatternScan_AMP_BINDING - no_errors ADCY8 114 genome.wustl.edu 36 8 131991137 131991137 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 8 131991137 131991137 C T SNP ADCY8 NM_001115 human genbank 54_36p -1 reviewed missense c.1639 p.G547R 0.999 HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors FAM135B 51059 genome.wustl.edu 36 8 139233536 139233536 + Silent SNP G G T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 8 139233536 139233536 G T SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.2364 p.T788 0.000 NULL superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676 - no_errors ZC3H3 23144 genome.wustl.edu 36 8 144691817 144691817 + Missense_Mutation SNP C C A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 8 144691817 144691817 C A SNP ZC3H3 NM_015117 human genbank 54_36p -1 validated missense c.863 p.G288V 0.024 NULL superfamily_CCCH zinc finger,HMMPfam_zf-CCCH,HMMSmart_SM00356 - no_errors LARS 51520 genome.wustl.edu 36 5 145509399 145509399 + Silent SNP A A T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 5 145509399 145509399 A T SNP LARS NM_020117 human genbank 54_36p -1 reviewed silent c.1482 p.I494 1.000 superfamily_Nucleotidylyl transferase,superfamily_ValRS/IleRS/LeuRS editing domain superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,HMMPfam_tRNA-synt_1g,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 - no_errors HIST2H2BF 440689 genome.wustl.edu 36 1 148050372 148050372 + Missense_Mutation SNP T T C novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 1 148050372 148050372 T C SNP HIST2H2BF NM_001024599 human genbank 54_36p -1 provisional missense c.131 p.K44R 1.000 superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors DPP4 1803 genome.wustl.edu 36 2 162573358 162573358 + Silent SNP A A G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 2 162573358 162573358 A G SNP DPP4 NM_001935 human genbank 54_36p -1 reviewed silent c.1947 p.C649 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,PatternScan_PRO_ENDOPEP_SER - no_errors TTN 7273 genome.wustl.edu 36 2 179321579 179321579 + Missense_Mutation SNP G G T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 2 179321579 179321579 G T SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.13793 p.P4598Q 0.465 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors EIF2B5 8893 genome.wustl.edu 36 3 185340951 185340951 + Missense_Mutation SNP C C T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 3 185340951 185340951 C T SNP EIF2B5 NM_003907 human genbank 54_36p +1 validated missense c.895 p.R299C 1.000 superfamily_SSF53448 superfamily_SSF53448,superfamily_Trimer_LpxA_like,HMMPfam_Hexapep,superfamily_ARM-type_fold,HMMSmart_eIF5C,HMMPfam_W2 - no_errors ST6GAL1 6480 genome.wustl.edu 36 3 188243695 188243695 + Silent SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 3 188243695 188243695 C G SNP ST6GAL1 NM_003032 human genbank 54_36p +1 reviewed silent c.510 p.P170 0.171 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors OSTalpha 200931 genome.wustl.edu 36 3 197439528 197439528 + Missense_Mutation SNP C C G novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 3 197439528 197439528 C G SNP OSTalpha NM_152672 human genbank 54_36p +1 validated missense c.508 p.L170V 0.000 NULL NULL - no_errors MARCH4 57574 genome.wustl.edu 36 2 216943050 216943050 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 2 216943050 216943050 G A SNP MARCH4 NM_020814 human genbank 54_36p -1 validated missense c.179 p.A60V 0.997 NULL HMMSmart_RINGv,HMMPfam_zf-C3HC4 - no_errors ABCB10 23456 genome.wustl.edu 36 1 227751725 227751725 + Silent SNP G G T novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 1 227751725 227751725 G T SNP ABCB10 NM_012089 human genbank 54_36p -1 reviewed silent c.597 p.I199 1.000 superfamily_ABC_TM_1,HMMPfam_ABC_membrane superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors ESPNL 339768 genome.wustl.edu 36 2 238702171 238702171 + Missense_Mutation SNP G G A novel unknown TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1156f297-c04a-465f-8929-e800a9a1c99e 04f53806-7926-43b9-baef-f1a8132bb662 2 238702171 238702171 G A SNP ESPNL NM_194312 human genbank 54_36p +1 validated missense c.1300 p.G434R 0.059 NULL HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank - no_errors