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 C1orf194 127003 genome.wustl.edu 36 1 109457783 109457783 + Missense_Mutation SNP C C A Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 1 109457783 109457783 C A SNP C1orf194 ENST00000369949 human ensembl 54_36p -1 known missense c.40 p.A14S 0.022 NULL - - no_errors PI4KB 5298 genome.wustl.edu 36 1 149555082 149555082 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 1 149555082 149555082 A C SNP PI4KB NM_002651 human genbank 54_36p -1 provisional missense c.536 p.F179C 1 NULL - - no_errors LMNA 4000 genome.wustl.edu 36 1 154370932 154370932 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 1 154370932 154370932 A G SNP LMNA NM_170707 human genbank 54_36p 1 reviewed missense c.628 p.I210V 1 HMMPfam_Filament HMMPfam_IF_tail,HMMPfam_Filament,superfamily_Prefoldin,superfamily_Lamin A/C globular tail domain - no_errors SPEN 23013 genome.wustl.edu 36 1 16073415 16073415 + Silent SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 1 16073415 16073415 T C SNP SPEN ENST00000375753 human ensembl 54_36p 1 known silent c.219 p.Y73 1 NULL - - no_stop_codon NUAK2 81788 genome.wustl.edu 36 1 203539936 203539936 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 1 203539936 203539936 G A SNP NUAK2 NM_030952 human genbank 54_36p -1 provisional silent c.1152 p.A384 1 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors LOC729708 729708 genome.wustl.edu 36 1 76938324 76938324 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 1 76938324 76938324 G A SNP LOC729708 XM_001133949 human genbank 54_36p 1 model missense c.263 p.R88K 1 NULL - - pseudogene BMS1 9790 genome.wustl.edu 36 10 42645856 42645856 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 10 42645856 42645856 C G SNP BMS1 NM_014753 human genbank 54_36p 1 reviewed missense c.3598 p.R1200G 0.95 NULL HMMPfam_DUF663;HMMPfam_AARP2CN;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors HINFP 25988 genome.wustl.edu 36 11 118506671 118506671 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 11 118506671 118506671 G C SNP HINFP NM_015517 human genbank 54_36p 1 validated missense c.208 p.E70Q 1 NULL HMMPfam_zf-C2H2;superfamily_C2H2 and C2HC zinc fingers - no_errors OR51A4 401666 genome.wustl.edu 36 11 4924258 4924258 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 11 4924258 4924258 C A SNP OR51A4 NM_001005329 human genbank 54_36p -1 provisional missense c.649 p.V217L NULL - - no_errors TCIRG1 10312 genome.wustl.edu 36 11 67571713 67571713 + Silent SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 11 67571713 67571713 C A SNP TCIRG1 NM_006019 human genbank 54_36p 1 reviewed silent c.1329 p.G443 1 HMMPfam_V_ATPase_I HMMPfam_V_ATPase_I - no_errors LARP4 113251 genome.wustl.edu 36 12 49147018 49147018 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 12 49147018 49147018 C T SNP LARP4 NM_199188 human genbank 54_36p 1 validated missense c.1411 p.P471S 0.26 NULL "HMMPfam_La;superfamily_""Winged helix"" DNA-binding domain;superfamily_RNA-binding domain RBD" - no_errors ITGA7 3679 genome.wustl.edu 36 12 54373249 54373249 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 12 54373249 54373249 G A SNP ITGA7 NM_002206 human genbank 54_36p -1 reviewed silent c.2655 p.G885 0.99 HMMPfam_Integrin_alpha2 HMMPfam_Integrin_alpha;HMMPfam_FG-GAP;HMMPfam_Integrin_alpha2;superfamily_Integrin domains;superfamily_Integrin alpha N-terminal domain - no_errors LGR5 8549 genome.wustl.edu 36 12 70264197 70264197 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 12 70264197 70264197 C A SNP LGR5 NM_003667 human genbank 54_36p 1 provisional missense c.2140 p.P714T 1 NULL - - no_errors DCT 1638 genome.wustl.edu 36 13 93929317 93929317 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 13 93929317 93929317 C G SNP DCT NM_001922 human genbank 54_36p -1 validated missense c.194 p.R65P 0.1 NULL HMMPfam_Tyrosinase;superfamily_Di-copper centre-containing domain - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104483748 104483748 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 14 104483748 104483748 C G SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.9085 p.E3029Q 0 NULL - - no_errors HERC2 8924 genome.wustl.edu 36 15 26110869 26110869 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 15 26110869 26110869 G C SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.8284 p.R2762G 1 NULL HMMPfam_RCC1;HMMPfam_ZZ;HMMPfam_HECT;superfamily_Spermadhesin CUB domain;HMMPfam_Cyt-b5;superfamily_Cytochrome b5-like heme/steroid binding domain;superfamily_Galactose-binding domain-like;superfamily_RCC1/BLIP-II;HMMPfam_MIB_HERC2;superfamily_Hect E3 ligase catalytic domain - no_errors SLC28A2 9153 genome.wustl.edu 36 15 43342663 43342663 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 15 43342663 43342663 G C SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.375 p.K125N 0.01 NULL - - no_errors PRR15L 79170 genome.wustl.edu 36 17 43385312 43385312 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 17 43385312 43385312 G C SNP ATAD4 NM_024320 human genbank 54_36p -1 provisional missense c.288 p.H96Q NULL - - no_errors LLGL2 3993 genome.wustl.edu 36 17 71066945 71066945 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 17 71066945 71066945 C G SNP LLGL2 NM_001031803 human genbank 54_36p 1 reviewed missense c.389 p.T130R 1 NULL HMMPfam_WD40;superfamily_WD40 repeat-like;HMMPfam_LLGL - no_errors TP53 7157 genome.wustl.edu 36 17 7519260 7519260 + Missense_Mutation SNP T A A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 17 7519260 7519260 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.395 p.K132M 1 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors C19orf57 79173 genome.wustl.edu 36 19 13867340 13867340 + Silent SNP T T G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 13867340 13867340 T G SNP C19orf57 NM_024323 human genbank 54_36p -1 predicted silent c.51 p.P17 NULL - - no_errors ZNF493 284443 genome.wustl.edu 36 19 21399223 21399223 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 21399223 21399223 C A SNP ZNF493 NM_001076678 human genbank 54_36p 1 validated missense c.1922 p.S641Y NULL - - no_errors CCDC123 84902 genome.wustl.edu 36 19 38116210 38116210 + Silent SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 38116210 38116210 C T SNP CCDC123 NM_032816 human genbank 54_36p -1 validated silent c.873 p.A291 NULL - - no_errors ZNF285B 147711 genome.wustl.edu 36 19 49669048 49669048 + RNA SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 49669048 49669048 T C SNP ZNF285B XR_016906 human genbank 54_36p 1 model rna NULL NULL - - - pseudogene CEACAM16 388551 genome.wustl.edu 36 19 49894554 49894554 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 49894554 49894554 G C SNP CEACAM16 NM_001039213 human genbank 54_36p 1 provisional missense c.165 p.L55F 1 NULL - - no_errors MYBPC2 4606 genome.wustl.edu 36 19 55631732 55631732 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 55631732 55631732 G A SNP MYBPC2 NM_004533 human genbank 54_36p 1 validated missense c.392 p.R131H 0.85 NULL HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;superfamily_Immunoglobulin - no_errors ZNF614 80110 genome.wustl.edu 36 19 57212247 57212247 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 57212247 57212247 G C SNP ZNF614 NM_025040 human genbank 54_36p -1 validated nonsense c.416 p.S139* 0.07 NULL HMMPfam_KRAB;HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers - no_errors EMR1 2015 genome.wustl.edu 36 19 6877553 6877553 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 6877553 6877553 G A SNP EMR1 NM_001974 human genbank 54_36p 1 reviewed silent c.2163 p.P721 0.97 HMMPfam_7tm_2 HMMPfam_GPS;HMMPfam_7tm_2;HMMPfam_EGF_CA;superfamily_EGF/Laminin;superfamily_Family A G protein-coupled receptor-like - no_errors PNPLA6 10908 genome.wustl.edu 36 19 7520842 7520842 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 7520842 7520842 G A SNP PNPLA6 NM_006702 human genbank 54_36p 1 validated missense c.1541 p.R514H 1 HMMPfam_cNMP_binding HMMPfam_cNMP_binding;superfamily_cAMP-binding domain-like;HMMPfam_Patatin;superfamily_FabD/lysophospholipase-like - no_errors NBAS 51594 genome.wustl.edu 36 2 15481953 15481953 + Silent SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 2 15481953 15481953 C G SNP NBAS NM_015909 human genbank 54_36p -1 validated silent c.2514 p.T838 0.05 NULL - - no_errors SERPINE2 5270 genome.wustl.edu 36 2 224571223 224571223 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 2 224571223 224571223 C T SNP SERPINE2 NM_006216 human genbank 54_36p -1 validated missense c.340 p.V114M 0.87 NULL - - no_errors RPN2 6185 genome.wustl.edu 36 20 35295886 35295886 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 20 35295886 35295886 C T SNP RPN2 NM_002951 human genbank 54_36p 1 reviewed missense c.1727 p.T576M 1 HMMPfam_Ribophorin_II HMMPfam_Ribophorin_II - no_errors TGM2 7052 genome.wustl.edu 36 20 36212776 36212776 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 20 36212776 36212776 G A SNP TGM2 NM_004613 human genbank 54_36p -1 reviewed silent c.531 p.N177 NULL HMMPfam_Transglut_N;HMMPfam_Transglut_core;HMMPfam_Transglut_C;superfamily_Transglutaminase two C-terminal domains;superfamily_E set domains;superfamily_Cysteine proteinases - no_errors PTPRT 11122 genome.wustl.edu 36 20 40739976 40739976 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 20 40739976 40739976 C A SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.1097 p.G366V 1 NULL - - no_errors TOX2 84969 genome.wustl.edu 36 20 42126903 42126903 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 20 42126903 42126903 G A SNP TOX2 NM_001098797 human genbank 54_36p 1 validated missense c.952 p.V318I 1 NULL - - no_errors ATR 545 genome.wustl.edu 36 3 143663531 143663531 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 3 143663531 143663531 T A SNP ATR NM_001184 human genbank 54_36p -1 reviewed missense c.7133 p.E2378V 1 HMMPfam_PI3_PI4_kinase HMMPfam_HEAT;HMMPfam_PI3_PI4_kinase;HMMPfam_FAT;HMMPfam_FATC;superfamily_Protein kinase-like (PK-like);HMMPfam_UME;superfamily_ARM repeat;superfamily_TPR-like - no_errors PIK3CA 5290 genome.wustl.edu 36 3 180418785 180418785 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 3 180418785 180418785 G A SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed missense c.1633 p.E545K 1 HMMPfam_PI3Ka PI3K_rbd;HMMPfam_PI3K_rbd;PI3_PI4_kinase;HMMPfam_PI3_PI4_kinase;PI3Ka;HMMPfam_PI3Ka;PI3K_C2;HMMPfam_PI3K_C2;PI3K_p85B;HMMPfam_PI3K_p85B - no_errors HTR1F 3355 genome.wustl.edu 36 3 88122898 88122898 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 3 88122898 88122898 C A SNP HTR1F NM_000866 human genbank 54_36p 1 validated missense c.309 p.D103E 1 NULL - - no_errors CYP2A7P1 1550 genome.wustl.edu 36 19 46224937 46224937 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 46224937 46224937 C T SNP CYP2A7P1 ENST00000301171 human ensembl 54_36p -1 known missense c.253 p.D85N 0.79 NULL - - no_stop_codon CYP2A7P1 1550 genome.wustl.edu 36 19 46225384 46225384 + Silent SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 19 46225384 46225384 C T SNP CYP2A7P1 ENST00000301171 human ensembl 54_36p -1 known silent c.84 p.K28 0.01 NULL - - no_stop_codon SLC25A2 83884 genome.wustl.edu 36 5 140663501 140663501 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 5 140663501 140663501 G A SNP SLC25A2 NM_031947 human genbank 54_36p -1 reviewed missense c.116 p.T39M 1 NULL - - no_errors FRK 2444 genome.wustl.edu 36 6 116370338 116370338 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 6 116370338 116370338 G A SNP FRK NM_002031 human genbank 54_36p -1 reviewed missense c.1450 p.R484C 1 HMMPfam_Pkinase_Tyr SH2;HMMPfam_SH2;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;SH3_1;HMMPfam_SH3_1 - no_errors DNAH8 1769 genome.wustl.edu 36 6 38985289 38985289 + Silent SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 6 38985289 38985289 T C SNP DNAH8 NM_001371 human genbank 54_36p 1 validated silent c.8880 p.R2960 0.5 NULL HMMPfam_AAA_5;HMMPfam_DHC_N1;HMMPfam_DHC_N2;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases;HMMPfam_Dynein_heavy - no_errors MUC17 140453 genome.wustl.edu 36 7 100463481 100463481 + Silent SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 7 100463481 100463481 T C SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.2064 p.T688 0.01 NULL HMMPfam_SEA;superfamily_EGF/Laminin;superfamily_SEA domain - no_errors CFTR 1080 genome.wustl.edu 36 7 116958238 116958238 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 7 116958238 116958238 C A SNP CFTR NM_000492 human genbank 54_36p 1 reviewed missense c.323 p.S108Y 1 HMMPfam_ABC_membrane HMMPfam_ABC_membrane;HMMPfam_ABC_tran;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain - no_errors HECW1 23072 genome.wustl.edu 36 7 43558412 43558412 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 7 43558412 43558412 G A SNP HECW1 NM_015052 human genbank 54_36p 1 validated missense c.4462 p.A1488T 0.92 HMMPfam_HECT HMMPfam_C2;HMMPfam_HECT;HMMPfam_WW;superfamily_WW domain;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);superfamily_Hect E3 ligase catalytic domain - no_errors GTF2IRD2P1 401375 genome.wustl.edu 36 7 72296263 72296263 + RNA SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 7 72296263 72296263 G A SNP GTF2IRD2P NR_002164 human genbank 54_36p -1 provisional rna NULL NULL 0.93 - - - pseudogene CALCR 799 genome.wustl.edu 36 7 92893814 92893814 + Missense_Mutation SNP T T A Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 7 92893814 92893814 T A SNP CALCR NM_001742 human genbank 54_36p -1 validated missense c.1215 p.Q405H 0.948 NULL HMMPfam_7tm_2,HMMPfam_HRM,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like - no_errors COL22A1 169044 genome.wustl.edu 36 8 139728095 139728095 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 8 139728095 139728095 G A SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.3460 p.P1154S NULL HMMPfam_VWA;HMMPfam_Collagen;superfamily_Concanavalin A-like lectins/glucanases;superfamily_vWA-like - no_errors FKTN 2218 genome.wustl.edu 36 9 107417453 107417453 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 9 107417453 107417453 C T SNP FKTN NM_001079802 human genbank 54_36p 1 reviewed missense c.854 p.A285V 0.96 NULL - - no_errors LOC653155 653155 genome.wustl.edu 36 X 115766826 115766826 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 X 115766826 115766826 C G SNP LOC653155 XM_926254 human genbank 54_36p -1 model missense c.36 p.M12I 1 NULL - - no_errors AIFM1 9131 genome.wustl.edu 36 X 129098804 129098804 + Silent SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 X 129098804 129098804 G C SNP AIFM1 NM_004208 human genbank 54_36p -1 reviewed silent c.1005 p.P335 0.91 HMMPfam_Pyr_redox:HMMPfam_Pyr_redox_2 Pyr_redox;HMMPfam_Pyr_redox;Pyr_redox_2;HMMPfam_Pyr_redox_2;FAD/NAD(P)-binding domain;superfamily_FAD/NAD(P)-binding domain;FAD/NAD-linked reductases dimerisation (C-terminal) domain;superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain - no_errors RBMX 27316 genome.wustl.edu 36 X 135785393 135785393 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 X 135785393 135785393 T C SNP RBMX NM_002139 human genbank 54_36p -1 reviewed missense c.559 p.R187G 1 HMMPfam_RBM1CTR HMMPfam_RRM_1;HMMPfam_RBM1CTR;superfamily_RNA-binding domain RBD - no_errors DMD 1756 genome.wustl.edu 36 X 32573127 32573127 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 X 32573127 32573127 C T SNP DMD NM_004006 human genbank 54_36p -1 reviewed missense c.1024 p.D342N 1 HMMPfam_Spectrin HMMPfam_ZZ;HMMPfam_WW;superfamily_WW domain;HMMPfam_CH;HMMPfam_Spectrin;superfamily_Prefoldin;superfamily_t-snare proteins;HMMPfam_efhand_1;HMMPfam_efhand_2;superfamily_Spectrin repeat;superfamily_EF-hand;superfamily_Calponin-homology domain CH-domain - no_errors ZNF674 641339 genome.wustl.edu 36 X 46245242 46245242 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 X 46245242 46245242 A T SNP ZNF674 NM_001039891 human genbank 54_36p -1 provisional missense c.726 p.H242Q 0.68 NULL - - no_errors RAB41 347517 genome.wustl.edu 36 X 69418889 69418889 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 757862e3-0392-4e05-a242-25e3d2094ee8 7bd7b34c-778d-421d-b80e-17ecba029854 X 69418889 69418889 A G SNP RAB41 NM_001032726 human genbank 54_36p 1 provisional missense c.97 p.K33E 0.31 HMMPfam_Ras HMMPfam_Ras;P-loop containing nucleoside triphosphate hydrolases;superfamily_P-loop containing nucleoside triphosphate hydrolases;Ras - no_errors