Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error MT-CO3 4514 genome.wustl.edu 36 MT 9381 9381 + Silent SNP G A A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e MT 9381 9381 G A SNP MT-CO3 ENST00000362079 human ensembl 54_36p +1 known silent c.174 p.W58 NULL superfamily_CytC_oxdse_III,HMMPfam_COX3 superfamily_CytC_oxdse_III,HMMPfam_COX3 - no_stop_codon:bad_bp_length_for_coding_region SIRPA 140885 genome.wustl.edu 36 20 1863398 1863398 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 20 1863398 1863398 C T SNP SIRPA NM_001040022 human genbank 54_36p +1 reviewed nonsense c.1264 p.Q422* 1.000 NULL HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C1-set,HMMSmart_IGc1 - no_errors ZNF77 58492 genome.wustl.edu 36 19 2885297 2885297 + Silent SNP G G T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 19 2885297 2885297 G T SNP ZNF77 NM_021217 human genbank 54_36p -1 validated silent c.828 p.A276 0.014 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ENSG00000188954 0 genome.wustl.edu 36 4 4227650 4227650 + Missense_Mutation SNP G G A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 4 4227650 4227650 G A SNP ENSG00000188954 ENST00000342858 human ensembl 54_36p -1 known missense c.251 p.T84M 0.000 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_start_codon:no_stop_codon TPTE 7179 genome.wustl.edu 36 21 9963836 9963836 + Silent SNP A A G novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 21 9963836 9963836 A G SNP TPTE NM_199261 human genbank 54_36p -1 validated silent c.738 p.I246 1.000 superfamily_(Phosphotyrosine protein) phosphatases II superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors GRHL1 29841 genome.wustl.edu 36 2 10021890 10021890 + Missense_Mutation SNP C C G novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 2 10021890 10021890 C G SNP GRHL1 NM_014552 human genbank 54_36p +1 reviewed missense c.979 p.R327G 0.995 HMMPfam_CP2 HMMPfam_CP2 - no_errors TEKT3 64518 genome.wustl.edu 36 17 15158210 15158210 + Missense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 17 15158210 15158210 C T SNP TEKT3 NM_031898 human genbank 54_36p -1 reviewed missense c.797 p.R266Q 0.992 HMMPfam_Tektin HMMPfam_Tektin - no_errors HERC2P2 400322 genome.wustl.edu 36 15 18905844 18905844 + Missense_Mutation SNP G G A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 15 18905844 18905844 G A SNP HERC2P2 ENST00000324413 human ensembl 54_36p -1 known missense c.2246 p.T749M 1.000 NULL HMMPfam_MIB_HERC2 - no_errors BMP1 649 genome.wustl.edu 36 8 22110844 22110844 + Silent SNP G G A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 8 22110844 22110844 G A SNP BMP1 NM_006129 human genbank 54_36p +1 reviewed silent c.2073 p.V691 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF_CA,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF" - no_errors RNASEN 29102 genome.wustl.edu 36 5 31540456 31540456 + Missense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 5 31540456 31540456 C T SNP RNASEN NM_013235 human genbank 54_36p -1 validated missense c.1631 p.R544H 1.000 NULL superfamily_RNase III catalytic domain-like (Pfam 00636),HMMSmart_SM00535,PatternScan_RNASE_3_1,HMMPfam_Ribonuclease_3,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358 - no_errors TOM1 10043 genome.wustl.edu 36 22 34049857 34049857 + Missense_Mutation SNP G A A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 22 34049857 34049857 G A SNP TOM1 NM_005488 human genbank 54_36p +1 reviewed missense c.598 p.A200T 0.000 superfamily_SSF89009 superfamily_ENTH_VHS,HMMPfam_VHS,HMMSmart_VHS,superfamily_SSF89009,HMMPfam_GAT - no_errors RBL1 5933 genome.wustl.edu 36 20 35069252 35069252 + Silent SNP G G A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 20 35069252 35069252 G A SNP RBL1 NM_002895 human genbank 54_36p -1 reviewed silent c.2847 p.Y949 0.916 superfamily_Cyclin-like HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385 - no_errors CNP 1267 genome.wustl.edu 36 17 37373858 37373858 + Missense_Mutation SNP G G C novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 17 37373858 37373858 G C SNP CNP NM_033133 human genbank 54_36p +1 validated missense c.250 p.D84H 0.994 HMMPfam_CNPase,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_CNPase,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_LigT-like - no_errors C17orf53 78995 genome.wustl.edu 36 17 39585601 39585601 + Missense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 17 39585601 39585601 C T SNP C17orf53 NM_024032 human genbank 54_36p +1 predicted missense c.1379 p.T460M 0.988 NULL NULL - no_errors FAM75A6 0 genome.wustl.edu 36 9 43567305 43567305 + Missense_Mutation SNP T T C novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 9 43567305 43567305 T C SNP FAM75A6 ENST00000332857 human ensembl 54_36p -1 known missense c.1378 p.T460A 0.073 NULL NULL - no_errors SLC12A5 57468 genome.wustl.edu 36 20 44119219 44119219 + Silent SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 20 44119219 44119219 C T SNP SLC12A5 NM_020708 human genbank 54_36p +1 reviewed silent c.3129 p.N1043 1.000 NULL HMMPfam_AA_permease - no_errors FBLN1 2192 genome.wustl.edu 36 22 44337571 44337571 + Missense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 22 44337571 44337571 C T SNP FBLN1 NM_001996 human genbank 54_36p +1 reviewed missense c.1813 p.R605C 1.000 NULL HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL - no_errors SPTBN4 57731 genome.wustl.edu 36 19 45773195 45773195 + Silent SNP G G C novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 19 45773195 45773195 G C SNP SPTBN4 NM_020971 human genbank 54_36p +1 reviewed silent c.7575 p.S2525 0.178 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors AMBRA1 55626 genome.wustl.edu 36 11 46523898 46523898 + Missense_Mutation SNP C C A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 11 46523898 46523898 C A SNP AMBRA1 NM_017749 human genbank 54_36p -1 validated missense c.383 p.G128V 1.000 superfamily_WD40_like,HMMSmart_WD40 HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors COL2A1 1280 genome.wustl.edu 36 12 46680134 46680134 + Missense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 12 46680134 46680134 C T SNP COL2A1 NM_001844 human genbank 54_36p -1 reviewed missense c.127 p.D43N 1.000 HMMPfam_VWC,HMMSmart_SM00214 HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors FNDC3A 22862 genome.wustl.edu 36 13 48679278 48679278 + Missense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 13 48679278 48679278 C T SNP FNDC3A NM_001079673 human genbank 54_36p +1 validated missense c.3343 p.R1115C 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060 HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors DGKK 139189 genome.wustl.edu 36 X 50229960 50229960 + Missense_Mutation SNP G T T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e X 50229960 50229960 G T SNP DGKK ENST00000376025 human ensembl 54_36p -1 known missense c.458 p.P153Q 0.002 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045 - no_errors SIGLEC8 27181 genome.wustl.edu 36 19 56653290 56653290 + Missense_Mutation SNP C A A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 19 56653290 56653290 C A SNP SIGLEC8 NM_014442 human genbank 54_36p -1 validated missense c.164 p.G55V 0.000 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig - no_errors BSCL2 26580 genome.wustl.edu 36 11 62229431 62229431 + Missense_Mutation SNP C C A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 11 62229431 62229431 C A SNP BSCL2 NM_032667 human genbank 54_36p -1 reviewed missense c.130 p.V44L 1.000 HMMPfam_Seipin HMMPfam_Seipin - no_errors TRIM23 373 genome.wustl.edu 36 5 64928114 64928114 + Missense_Mutation SNP C C A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 5 64928114 64928114 C A SNP TRIM23 NM_001656 human genbank 54_36p -1 reviewed missense c.1310 p.G437V 1.000 HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175 superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502,HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,PatternScan_ARF - no_errors FAM75A7 26165 genome.wustl.edu 36 9 65246053 65246053 + Missense_Mutation SNP G A A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 9 65246053 65246053 G A SNP FAM75A7 NM_015667 human genbank 54_36p -1 validated missense c.1327 p.P443S 0.003 NULL NULL - no_errors DNAJC6 9829 genome.wustl.edu 36 1 65646930 65646930 + Missense_Mutation SNP C C A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 1 65646930 65646930 C A SNP DNAJC6 NM_014787 human genbank 54_36p +1 validated missense c.2339 p.A780D 1.000 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ - no_errors C15orf17 57184 genome.wustl.edu 36 15 72982055 72982055 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 15 72982055 72982055 G T SNP C15orf17 NM_020447 human genbank 54_36p -1 validated nonsense c.555 p.C185* 1.000 NULL NULL - no_errors ADAT1 23536 genome.wustl.edu 36 16 74212092 74212092 + Missense_Mutation SNP G G A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 16 74212092 74212092 G A SNP ADAT1 NM_012091 human genbank 54_36p -1 reviewed missense c.107 p.A36V 0.994 HMMSmart_SM00552 HMMSmart_SM00552,HMMPfam_A_deamin - no_errors IMPG1 3617 genome.wustl.edu 36 6 76808448 76808448 + Silent SNP G G A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 6 76808448 76808448 G A SNP IMPG1 NM_001563 human genbank 54_36p -1 provisional silent c.183 p.F61 0.988 NULL superfamily_SSF82671,HMMPfam_SEA,HMMSmart_SEA - no_errors PLCG2 5336 genome.wustl.edu 36 16 80499587 80499587 + Silent SNP G G A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 16 80499587 80499587 G A SNP PLCG2 NM_002661 human genbank 54_36p +1 validated silent c.1623 p.T541 0.718 superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2 superfamily_SSF50729,HMMSmart_PH,HMMPfam_PH,superfamily_SSF47473,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors CA1 759 genome.wustl.edu 36 8 86436512 86436512 + Missense_Mutation SNP T T C novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 8 86436512 86436512 T C SNP CA1 NM_001738 human genbank 54_36p -1 validated missense c.268 p.R90G 0.434 superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1 - no_errors CA5A 763 genome.wustl.edu 36 16 86479243 86479243 + Missense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 16 86479243 86479243 C T SNP CA5A NM_001739 human genbank 54_36p -1 reviewed missense c.911 p.R304K 0.000 NULL HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,PatternScan_ALPHA_CA_1 - no_errors CLCA3 9629 genome.wustl.edu 36 1 86877193 86877193 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 1 86877193 86877193 C T SNP CLCA3 ENST00000284054 human ensembl 54_36p +1 known nonsense c.622 p.R208* 0.001 HMMPfam_CLCA_N HMMPfam_CLCA_N - no_errors GALNT4 8693 genome.wustl.edu 36 12 88441893 88441893 + Missense_Mutation SNP A A T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 12 88441893 88441893 A T SNP GALNT4 NM_003774 human genbank 54_36p -1 reviewed missense c.565 p.Y189N 0.994 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458 - no_errors AMY2B 280 genome.wustl.edu 36 1 103923604 103923604 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 1 103923604 103923604 G T SNP AMY2B NM_020978 human genbank 54_36p +1 reviewed nonsense c.1495 p.E499* 1.000 superfamily_Glycosyl hydrolase domain,HMMSmart_SM00632,HMMPfam_Alpha-amylase_C superfamily_(Trans)glycosidases,HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_Glycosyl hydrolase domain,HMMSmart_SM00632,HMMPfam_Alpha-amylase_C - no_errors CBLL1 79872 genome.wustl.edu 36 7 107185914 107185914 + Missense_Mutation SNP G G T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 7 107185914 107185914 G T SNP CBLL1 NM_024814 human genbank 54_36p +1 validated missense c.531 p.L177F 0.996 HMMSmart_ZnF_C2H2 PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_ZnF_C2H2 - no_errors TRPS1 7227 genome.wustl.edu 36 8 116668653 116668653 + Missense_Mutation SNP G G T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 8 116668653 116668653 G T SNP TRPS1 NM_014112 human genbank 54_36p -1 reviewed missense c.2450 p.P817Q 1.000 NULL HMMSmart_ZnF_C2H2,superfamily_SSF57716,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors AASS 10157 genome.wustl.edu 36 7 121519082 121519082 + Missense_Mutation SNP T T C novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 7 121519082 121519082 T C SNP AASS NM_005763 human genbank 54_36p -1 reviewed missense c.1927 p.N643D 0.999 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Saccharop_dh,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AlaDh_PNT_N,HMMPfam_AlaDh_PNT_C,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Saccharop_dh,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain - no_errors ATP6V0A2 23545 genome.wustl.edu 36 12 122778291 122778291 + Missense_Mutation SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 12 122778291 122778291 C T SNP ATP6V0A2 NM_012463 human genbank 54_36p +1 validated missense c.530 p.S177F 1.000 HMMPfam_V_ATPase_I HMMPfam_V_ATPase_I - no_errors PCDHB6 56130 genome.wustl.edu 36 5 140511546 140511546 + Silent SNP C C T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 5 140511546 140511546 C T SNP PCDHB6 NM_018939 human genbank 54_36p +1 reviewed silent c.1524 p.N508 0.258 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors INPP4B 8821 genome.wustl.edu 36 4 143401142 143401142 + Missense_Mutation SNP G G T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 4 143401142 143401142 G T SNP INPP4B NM_001101669 human genbank 54_36p -1 reviewed missense c.641 p.A214D 0.996 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors HMGB3 3149 genome.wustl.edu 36 X 149906346 149906346 + Missense_Mutation SNP G G T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e X 149906346 149906346 G T SNP HMGB3 NM_005342 human genbank 54_36p +1 validated missense c.378 p.K126N 1.000 superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box superfamily_HMG-box,HMMPfam_HMG_box,HMMSmart_HMG,PatternScan_HMG_BOX_1 - no_errors GIMAP6 474344 genome.wustl.edu 36 7 149956336 149956336 + Missense_Mutation SNP C C G novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 7 149956336 149956336 C G SNP GIMAP6 NM_024711 human genbank 54_36p -1 reviewed missense c.283 p.D95H 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1 - no_errors uc003ezv.1 0 genome.wustl.edu 36 3 155323066 155323066 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 3 155323066 155323066 G T SNP uc003ezv.1 ENST00000356448 human ensembl 54_36p +1 known nonsense c.595 p.E199* 0.003 NULL superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1 - no_errors NEK1 4750 genome.wustl.edu 36 4 170582408 170582408 + Silent SNP T T C novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 4 170582408 170582408 T C SNP NEK1 NM_012224 human genbank 54_36p -1 validated silent c.3009 p.Q1003 0.788 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors TBP 6908 genome.wustl.edu 36 6 170712977 170712977 + Silent SNP G G A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 6 170712977 170712977 G A SNP TBP NM_003194 human genbank 54_36p +1 reviewed silent c.228 p.Q76 0.973 NULL superfamily_TFIID_C/glycos_N,HMMPfam_TBP,PatternScan_TFIID - no_errors TTN 7273 genome.wustl.edu 36 2 179167039 179167039 + Missense_Mutation SNP C C A novel unknown TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f075d72a-5f51-48f1-93a9-09249367f8ce f29efd01-7121-4d99-a78b-10aeb8b1678e 2 179167039 179167039 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.46270 p.A15424S 0.998 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors