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 TXNIP 10628 genome.wustl.edu 36 1 144151420 144151420 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 144151420 144151420 A G SNP TXNIP NM_006472 human genbank 54_36p 1 validated missense c.497 p.K166R 1 NULL - - no_errors FLG 2312 genome.wustl.edu 36 1 150543537 150543537 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 150543537 150543537 T G SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.10449 p.R3483S NULL - - no_errors TRIM46 80128 genome.wustl.edu 36 1 153421128 153421128 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 153421128 153421128 C G SNP TRIM46 NM_025058 human genbank 54_36p 1 validated missense c.1765 p.Q589E 0.998 NULL - - no_errors YY1AP1 55249 genome.wustl.edu 36 1 153905118 153905118 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 153905118 153905118 G C SNP YY1AP1 NM_139118 human genbank 54_36p -1 reviewed missense c.941 p.T314S 0.12 NULL - - no_errors FCRL5 83416 genome.wustl.edu 36 1 155779292 155779292 + Silent SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 155779292 155779292 A C SNP FCRL5 NM_031281 human genbank 54_36p -1 validated silent c.1104 p.A368 NULL HMMPfam_ig;superfamily_Immunoglobulin - no_errors USP21 27005 genome.wustl.edu 36 1 159398689 159398689 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 159398689 159398689 C T SNP USP21 ENST00000401988 human ensembl 54_36p 1 known missense c.658 p.P220S 1 NULL - - no_errors AVPR1B 553 genome.wustl.edu 36 1 204391958 204391958 + Frame_Shift_Del DEL A A - Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A - A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 204391958 204391958 A - DEL AVPR1B NM_000707 human genbank 54_36p 1 reviewed frame_shift_del c.895 p.S299fs 1 NULL - (deletion:cds_exon[204391064,204392003]) no_errors CD34 947 genome.wustl.edu 36 1 206128671 206128671 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 206128671 206128671 C G SNP CD34 NM_001025109 human genbank 54_36p -1 validated missense c.951 p.W317C 1 HMMPfam_CD34_antigen HMMPfam_CD34_antigen - no_errors RBM34 23029 genome.wustl.edu 36 1 233390906 233390906 + Silent SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 233390906 233390906 A G SNP RBM34 NM_015014 human genbank 54_36p -1 provisional silent c.138 p.G46 NULL - - no_errors CEP170 9859 genome.wustl.edu 36 1 241402644 241402644 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 241402644 241402644 G A SNP CEP170 NM_014812 human genbank 54_36p -1 reviewed missense c.1694 p.T565I 1 NULL HMMPfam_FHA;superfamily_Fibronectin type III;superfamily_SMAD/FHA domain - no_errors SPOCD1 90853 genome.wustl.edu 36 1 32036456 32036456 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 32036456 32036456 A C SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.2084 p.M695R 1 NULL - - no_errors LOC729828 729828 genome.wustl.edu 36 1 81960068 81960068 + RNA SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 81960068 81960068 G A SNP LOC729828 XR_015671 human genbank 54_36p 1 model rna NULL NULL 0.99 - - - pseudogene BARHL2 343472 genome.wustl.edu 36 1 90950709 90950709 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 90950709 90950709 G C SNP BARHL2 NM_020063 human genbank 54_36p -1 validated nonsense c.912 p.Y304* 1 NULL - - no_errors GFRA1 2674 genome.wustl.edu 36 10 117874815 117874815 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 10 117874815 117874815 C A SNP GFRA1 NM_005264 human genbank 54_36p -1 reviewed missense c.677 p.R226L 1 HMMPfam_GDNF HMMPfam_GDNF;superfamily_GDNF receptor-like (Pfam 02351) - no_errors TACC2 10579 genome.wustl.edu 36 10 123837268 123837268 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 10 123837268 123837268 G T SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed missense c.5263 p.A1755S NULL HMMPfam_TACC - no_errors PIH1D2 120379 genome.wustl.edu 36 11 111443833 111443833 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 11 111443833 111443833 G A SNP PIH1D2 NM_138789 human genbank 54_36p -1 validated missense c.920 p.T307M 0.42 NULL - - no_errors ROBO4 54538 genome.wustl.edu 36 11 124268986 124268986 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 11 124268986 124268986 G T SNP ROBO4 NM_019055 human genbank 54_36p -1 validated missense c.1484 p.A495D 0.019 NULL - - no_errors FEN1 2237 genome.wustl.edu 36 11 61320362 61320362 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 11 61320362 61320362 A T SNP FEN1 NM_004111 human genbank 54_36p 1 reviewed missense c.953 p.E318V 1 NULL HMMPfam_XPG_N;HMMPfam_XPG_I;superfamily_5' to 3' exonuclease C-terminal subdomain;superfamily_PIN domain-like - no_errors GANAB 23193 genome.wustl.edu 36 11 62163677 62163677 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 11 62163677 62163677 G A SNP GANAB NM_198335 human genbank 54_36p -1 validated silent c.141 p.C47 1 NULL HMMPfam_Glyco_hydro_31;superfamily_(Trans)glycosidases - no_errors ATP2A2 488 genome.wustl.edu 36 12 109204980 109204980 + Silent SNP T C C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 12 109204980 109204980 T C SNP ATP2A2 NM_170665 human genbank 54_36p 1 reviewed silent c.216 p.S72 1 HMMPfam_Cation_ATPase_N superfamily_HAD-like;superfamily_Calcium ATPase transduction domain A;superfamily_Metal cation-transporting ATPase ATP-binding domain N;superfamily_Calcium ATPase transmembrane domain M;HMMPfam_Cation_ATPase_N;HMMPfam_Hydrolase;HMMPfam_Cation_ATPase_C;HMMPfam_E1-E2_ATPase - no_errors SFSWAP 6433 genome.wustl.edu 36 12 130849938 130849938 + Silent SNP C C T Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 12 130849938 130849938 C T SNP SFRS8 NM_004592 human genbank 54_36p 1 reviewed silent c.2808 p.V936 0.97 NULL HMMPfam_Surp,superfamily_Surp module (SWAP domain Pfam 01805) - no_errors FBXL14 144699 genome.wustl.edu 36 12 1572492 1572492 + Silent SNP C C T Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 12 1572492 1572492 C T SNP FBXL14 NM_152441 human genbank 54_36p -1 validated silent c.1002 p.T334 1 NULL - - no_errors ARID2 196528 genome.wustl.edu 36 12 44531669 44531669 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 12 44531669 44531669 G C SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.3496 p.G1166R 1 NULL - - no_errors RDH5 5959 genome.wustl.edu 36 12 54404013 54404013 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 12 54404013 54404013 G A SNP RDH5 NM_002905 human genbank 54_36p 1 reviewed missense c.646 p.E216K 1 NULL HMMPfam_adh_short;superfamily_NAD(P)-binding Rossmann-fold domains - no_errors ATP5B 506 genome.wustl.edu 36 12 55325235 55325235 + Silent SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 12 55325235 55325235 C G SNP ATP5B NM_001686 human genbank 54_36p -1 reviewed silent c.297 p.V99 1 HMMPfam_ATP-synt_ab_N HMMPfam_ATP-synt_ab;HMMPfam_ATP-synt_ab_C;superfamily_C-terminal domain of alpha and beta subunits of F1 ATP synthase;HMMPfam_ATP-synt_ab_N;superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors THSD1 55901 genome.wustl.edu 36 13 51870016 51870016 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 13 51870016 51870016 C A SNP THSD1 NM_018676 human genbank 54_36p -1 reviewed missense c.373 p.V125L 1 NULL HMMPfam_TSP_1;superfamily_TSP-1 type 1 repeat - no_errors ATP5S 27109 genome.wustl.edu 36 14 49862185 49862185 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 14 49862185 49862185 G A SNP ATP5S NM_001003803 human genbank 54_36p 1 reviewed silent c.642 p.L214 0.19 NULL superfamily_RNI-like - no_errors ATP5S 27109 genome.wustl.edu 36 14 49868648 49868648 + Silent SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 14 49868648 49868648 G T SNP ATP5S ENST00000358473 human ensembl 54_36p 1 known silent c.645 p.L215 NULL superfamily_RNI-like - no_errors SPTB 6710 genome.wustl.edu 36 14 64309076 64309076 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 14 64309076 64309076 C T SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.5528 p.R1843Q 0.99 HMMPfam_Spectrin HMMPfam_CH;HMMPfam_PH;HMMPfam_Spectrin;superfamily_Spectrin repeat;superfamily_Calponin-homology domain CH-domain;superfamily_PH domain-like - no_errors ENSG00000211729 0 genome.wustl.edu 36 7 141876211 141876211 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 7 141876211 141876211 A G SNP ENSG00000211729 ENST00000390376 human ensembl 54_36p 1 known missense c.272 p.D91G NULL - - no_stop_codon:bad_bp_length_for_coding_region C15orf57 90416 genome.wustl.edu 36 15 38642302 38642302 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 15 38642302 38642302 C G SNP C15orf57 NM_001080791 human genbank 54_36p -1 validated missense c.232 p.A78P 1 NULL - - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359100 50359100 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 15 50359100 50359100 C T SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.202 p.G68S 1 NULL HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_DIL;HMMPfam_Myosin_N;superfamily_Myosin S1 fragment N-terminal domain;superfamily_Hypothetical protein yfbM;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ANXA2 302 genome.wustl.edu 36 15 58436718 58436718 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 15 58436718 58436718 T G SNP ANXA2 NM_001002858 human genbank 54_36p -1 reviewed missense c.421 p.T141P 1 HMMPfam_Annexin HMMPfam_Annexin;superfamily_Annexin - no_errors HERC1 8925 genome.wustl.edu 36 15 61751786 61751786 + Silent SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 15 61751786 61751786 T G SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed silent c.8007 p.A2669 0.94 NULL HMMPfam_RCC1;HMMPfam_HECT;HMMPfam_WD40;HMMPfam_SPRY;superfamily_RCC1/BLIP-II;superfamily_WD40 repeat-like;superfamily_Hect E3 ligase catalytic domain - no_errors WDR61 80349 genome.wustl.edu 36 15 76369034 76369034 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 15 76369034 76369034 G A SNP WDR61 NM_025234 human genbank 54_36p -1 provisional missense c.544 p.L182F 1 NULL - - no_errors ABCA3 21 genome.wustl.edu 36 16 2269010 2269010 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 16 2269010 2269010 G A SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed silent c.4482 p.C1494 0.99 HMMPfam_ABC_tran HMMPfam_ABC_tran;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TMEM186 25880 genome.wustl.edu 36 16 8797350 8797350 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 16 8797350 8797350 C T SNP TMEM186 NM_015421 human genbank 54_36p -1 validated missense c.602 p.R201H NULL - - no_errors GRIN2A 2903 genome.wustl.edu 36 16 9842061 9842061 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 16 9842061 9842061 C T SNP GRIN2A NM_000833 human genbank 54_36p -1 reviewed missense c.1595 p.G532E 1 NULL HMMPfam_Lig_chan;superfamily_Periplasmic binding protein-like I;superfamily_Periplasmic binding protein-like II - no_errors CACNB1 782 genome.wustl.edu 36 17 34593507 34593507 + Missense_Mutation SNP C G G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C G G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 17 34593507 34593507 C G SNP CACNB1 NM_000723 human genbank 54_36p -1 reviewed missense c.1035 p.K345N 1 HMMPfam_Ca_channel_B HMMPfam_Ca_channel_B;HMMPfam_SH3_1;superfamily_SH3-domain;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors B4GALNT2 124872 genome.wustl.edu 36 17 44601986 44601986 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 17 44601986 44601986 C A SNP B4GALNT2 NM_153446 human genbank 54_36p 1 provisional missense c.1598 p.A533D NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7520037 7520037 + Silent SNP C C A rs55863639 Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 17 7520037 7520037 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed silent c.375 p.T125 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 KRI1 65095 genome.wustl.edu 36 19 10531330 10531330 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 19 10531330 10531330 T C SNP KRI1 NM_023008 human genbank 54_36p -1 validated missense c.1000 p.R334G 1 NULL HMMPfam_Krr1 - no_errors USHBP1 83878 genome.wustl.edu 36 19 17228458 17228458 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 19 17228458 17228458 C T SNP USHBP1 NM_031941 human genbank 54_36p -1 validated missense c.1292 p.R431H 0.75 NULL - - no_errors ZNF585A 199704 genome.wustl.edu 36 19 42335087 42335087 + Silent SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 19 42335087 42335087 C T SNP ZNF585A NM_152655 human genbank 54_36p -1 validated silent c.1389 p.G463 0.96 NULL HMMPfam_zf-C2H2;superfamily_C2H2 and C2HC zinc fingers - no_errors ZNF614 80110 genome.wustl.edu 36 19 57212179 57212179 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 19 57212179 57212179 C T SNP ZNF614 NM_025040 human genbank 54_36p -1 validated missense c.484 p.E162K 0.02 NULL HMMPfam_KRAB;HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers - no_errors LASS4 79603 genome.wustl.edu 36 19 8228867 8228867 + Silent SNP C C A Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 19 8228867 8228867 C A SNP LASS4 NM_024552 human genbank 54_36p 1 validated silent c.846 p.T282 0.78 NULL - - no_errors MUC16 94025 genome.wustl.edu 36 19 8854503 8854503 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 19 8854503 8854503 G T SNP MUC16 NM_024690 human genbank 54_36p -1 validated nonsense c.41586 p.C13862* 0.37 HMMPfam_SEA HMMPfam_SEA;superfamily_Immunoglobulin;superfamily_SEA domain - no_errors NXPH2 11249 genome.wustl.edu 36 2 139145435 139145435 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 139145435 139145435 A T SNP NXPH2 NM_007226 human genbank 54_36p -1 validated missense c.322 p.F108I 1 HMMPfam_Neurexophilin HMMPfam_Neurexophilin - no_errors NXPH2 11249 genome.wustl.edu 36 2 139145697 139145697 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 139145697 139145697 A T SNP NXPH2 NM_007226 human genbank 54_36p -1 validated nonsense c.60 p.C20* 1 HMMPfam_Neurexophilin HMMPfam_Neurexophilin - no_errors PKP4 8502 genome.wustl.edu 36 2 159227670 159227670 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 159227670 159227670 G A SNP PKP4 NM_003628 human genbank 54_36p 1 reviewed missense c.2227 p.V743M 1 NULL - - no_errors BAZ2B 29994 genome.wustl.edu 36 2 159948437 159948437 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 159948437 159948437 A T SNP BAZ2B NM_013450 human genbank 54_36p -1 validated missense c.3687 p.S1229R 1 NULL - - no_errors TTN 7273 genome.wustl.edu 36 2 179166415 179166415 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 179166415 179166415 G C SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.51061 p.Q17021E 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTN 7273 genome.wustl.edu 36 2 179313341 179313341 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 179313341 179313341 C A SNP TTN NM_133432 human genbank 54_36p -1 reviewed missense c.12150 p.E4050D 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ST13P2 344328 genome.wustl.edu 36 2 188398902 188398902 + RNA SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 188398902 188398902 C G SNP LOC344328 XR_017370 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ALS2CR11 151254 genome.wustl.edu 36 2 202138809 202138809 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 202138809 202138809 G T SNP ALS2CR11 NM_152525 human genbank 54_36p -1 validated missense c.865 p.P289T 1 NULL - - no_errors CCDC85A 114800 genome.wustl.edu 36 2 56273230 56273230 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 56273230 56273230 C T SNP CCDC85A NM_001080433 human genbank 54_36p 1 provisional missense c.391 p.R131C 1 NULL - - no_errors ASPRV1 151516 genome.wustl.edu 36 2 70042190 70042190 + Frame_Shift_Del DEL T T - Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T - T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 2 70042190 70042190 T - DEL ASPRV1 NM_152792 human genbank 54_36p -1 validated frame_shift_del c.135 p.V46fs 0 NULL - (deletion:cds_exon[70041293,70042324]) no_errors TGM6 343641 genome.wustl.edu 36 20 2332442 2332442 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 20 2332442 2332442 A G SNP TGM6 NM_198994 human genbank 54_36p 1 validated missense c.1309 p.I437V 1 NULL - - no_errors GSS 2937 genome.wustl.edu 36 20 32997502 32997502 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 20 32997502 32997502 G C SNP GSS NM_000178 human genbank 54_36p -1 reviewed missense c.190 p.Q64E 1 HMMPfam_GSH_synth_ATP HMMPfam_GSH_synthase;HMMPfam_GSH_synth_ATP;superfamily_PreATP-grasp domain;superfamily_Glutathione synthetase ATP-binding domain-like - no_errors CHD6 84181 genome.wustl.edu 36 20 39507731 39507731 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 20 39507731 39507731 C T SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed missense c.3865 p.V1289M 1 NULL HMMPfam_SNF2_N;HMMPfam_Chromo;HMMPfam_Helicase_C;HMMPfam_TCH;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Chromo domain-like - no_errors KDM5B 10765 genome.wustl.edu 36 1 200978198 200978199 + Frame_Shift_Ins INS - C C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 - - C C - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 1 200978198 200978199 - C INS JARID1B NM_006618 human genbank 54_36p -1 validated frame_shift_ins c.2532 p.F844fs 0.98 HMMPfam_PLU-1 HMMPfam_ARID;HMMPfam_PHD;HMMPfam_JmjN;HMMPfam_zf-C5HC2;superfamily_FYVE/PHD zinc finger;HMMPfam_JmjC;HMMPfam_PLU-1;superfamily_ARID-like - no_errors HLCS 3141 genome.wustl.edu 36 21 37231367 37231367 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 21 37231367 37231367 C T SNP HLCS NM_000411 human genbank 54_36p -1 validated missense c.248 p.S83N NULL HMMPfam_BPL_C;HMMPfam_BPL_LipA_LipB;superfamily_Class II aaRS and biotin synthetases - no_errors ZNF70 7621 genome.wustl.edu 36 22 22416469 22416469 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 22 22416469 22416469 T C SNP ZNF70 NM_021916 human genbank 54_36p -1 provisional missense c.859 p.K287E 1 NULL - - no_errors SEC14L3 266629 genome.wustl.edu 36 22 29187550 29187550 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 22 29187550 29187550 G C SNP SEC14L3 NM_174975 human genbank 54_36p -1 reviewed missense c.903 p.C301W 1 HMMPfam_EMP24_GP25L HMMPfam_EMP24_GP25L;HMMPfam_CRAL_TRIO;superfamily_CRAL/TRIO domain;HMMPfam_CRAL_TRIO_N;superfamily_CRAL/TRIO N-terminal domain;superfamily_Supernatant protein factor (SPF) C-terminal domain - no_errors FBLN1 2192 genome.wustl.edu 36 22 44293295 44293295 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 22 44293295 44293295 G A SNP FBLN1 NM_006486 human genbank 54_36p 1 reviewed missense c.149 p.C50Y 1 HMMPfam_ANATO HMMPfam_ANATO;HMMPfam_EGF_CA;superfamily_EGF/Laminin - no_errors TRMU 55687 genome.wustl.edu 36 22 45121059 45121059 + Silent SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 22 45121059 45121059 T G SNP TRMU NM_018006 human genbank 54_36p 1 reviewed silent c.432 p.V144 HMMPfam_tRNA_Me_trans HMMPfam_tRNA_Me_trans;superfamily_Adenine nucleotide alpha hydrolases-like - no_errors MYH15 22989 genome.wustl.edu 36 3 109678039 109678039 + Silent SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 3 109678039 109678039 A T SNP MYH15 NM_014981 human genbank 54_36p -1 validated silent c.1188 p.A396 1 NULL - - no_errors SR140 23350 genome.wustl.edu 36 3 144239734 144239746 + Frame_Shift_Del DEL GGGTGAGTAAAAG GGGTGAGTAAAAG - Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 GGGTGAGTAAAAG GGGTGAGTAAAAG GGGTGAGTAAAAG - GGGTGAGTAAAAG GGGTGAGTAAAAG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 3 144239734 144239746 GGGTGAGTAAAAG - DEL SR140 NM_001080415 human genbank 54_36p 1 provisional frame_shift_del c.2315_2317 p.Q772fs 1.000:1.000:1.000 NULL - (deletion:cds_exon[144239640,144239735], intron[144239736,144240425]) no_errors MBNL1 4154 genome.wustl.edu 36 3 153500755 153500755 + Nonsense_Mutation SNP C G G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C G G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 3 153500755 153500755 C G SNP MBNL1 NM_207293 human genbank 54_36p 1 validated nonsense c.83 p.S28* 1 NULL - - no_errors ATP13A3 79572 genome.wustl.edu 36 3 195633836 195633836 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 3 195633836 195633836 C A SNP ATP13A3 NM_024524 human genbank 54_36p -1 validated missense c.2320 p.A774S 1 NULL - - no_errors LOC643634 643634 genome.wustl.edu 36 3 27649864 27649864 + RNA SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 3 27649864 27649864 G A SNP LOC643634 XR_016808 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene RAD54L2 23132 genome.wustl.edu 36 3 51648655 51648655 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 3 51648655 51648655 A C SNP RAD54L2 NM_015106 human genbank 54_36p 1 validated missense c.1717 p.S573R 1 NULL HMMPfam_SNF2_N;HMMPfam_Helicase_C;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors KIAA1109 84162 genome.wustl.edu 36 4 123380667 123380667 + Silent SNP T T A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 4 123380667 123380667 T A SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated silent c.4380 p.P1460 1 NULL - - no_errors PROM1 8842 genome.wustl.edu 36 4 15629230 15629230 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 4 15629230 15629230 G T SNP PROM1 NM_006017 human genbank 54_36p -1 reviewed missense c.816 p.N272K 0.92 HMMPfam_Prominin HMMPfam_Prominin - no_errors DDX60L 91351 genome.wustl.edu 36 4 169552223 169552223 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 4 169552223 169552223 C G SNP DDX60L NM_001012967 human genbank 54_36p -1 validated missense c.3778 p.V1260L 0.36 NULL - - no_errors OTOP1 133060 genome.wustl.edu 36 4 4250353 4250353 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 4 4250353 4250353 C T SNP OTOP1 NM_177998 human genbank 54_36p -1 provisional missense c.1109 p.R370Q 0.95 NULL - - no_errors MEGF10 84466 genome.wustl.edu 36 5 126786259 126786259 + Splice_Site SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 5 126786259 126786259 A T SNP MEGF10 NM_032446 human genbank 54_36p 1 validated splice_site c.1591-2 e12-2 1 - - - no_errors ANKHD1-EIF4EBP3 404734 genome.wustl.edu 36 5 139908732 139908732 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 5 139908732 139908732 C T SNP EIF4EBP3 NM_003732 human genbank 54_36p 1 reviewed missense c.161 p.A54V 1 NULL - - no_errors YIPF5 81555 genome.wustl.edu 36 5 143520217 143520225 + In_Frame_Del DEL TTGCTGTCC TTGCTGTCC - Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 TTGCTGTCC TTGCTGTCC TTGCTGTCC - TTGCTGTCC TTGCTGTCC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 5 143520217 143520225 TTGCTGTCC - DEL YIPF5 NM_001024947 human genbank 54_36p -1 validated in_frame_del c.711_703 p.GQQ235in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL - (deletion:cds_exon[143520154,143520316]) no_errors GRPEL2 134266 genome.wustl.edu 36 5 148708089 148708089 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 5 148708089 148708089 G C SNP GRPEL2 NM_152407 human genbank 54_36p 1 validated missense c.139 p.E47Q 1 NULL - - no_errors KIF4B 285643 genome.wustl.edu 36 5 154374459 154374459 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 5 154374459 154374459 G T SNP KIF4B NM_001099293 human genbank 54_36p 1 provisional missense c.847 p.G283C 0.32 NULL - - no_errors LPA 4018 genome.wustl.edu 36 6 160976228 160976228 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 6 160976228 160976228 G A SNP LPA NM_005577 human genbank 54_36p -1 validated missense c.992 p.T331M 0.04 NULL - - no_errors HIST1H3A 8350 genome.wustl.edu 36 6 26128756 26128756 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 6 26128756 26128756 G T SNP HIST1H3A NM_003529 human genbank 54_36p 1 reviewed missense c.60 p.Q20H 1 NULL - - no_errors OR12D3 81797 genome.wustl.edu 36 6 29450715 29450715 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 6 29450715 29450715 G A SNP OR12D3 NM_030959 human genbank 54_36p -1 provisional missense c.329 p.A110V NULL - - no_errors NT5E 4907 genome.wustl.edu 36 6 86251818 86251818 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 6 86251818 86251818 G A SNP NT5E NM_002526 human genbank 54_36p 1 validated missense c.898 p.V300I 1 NULL HMMPfam_5_nucleotid_C;superfamily_5'-nucleotidase (syn. UDP-sugar hydrolase) C-terminal domain;superfamily_Metallo-dependent phosphatases;HMMPfam_Metallophos - no_errors CTTNBP2 83992 genome.wustl.edu 36 7 117211650 117211650 + Silent SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 7 117211650 117211650 T G SNP CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed silent c.2163 p.G721 1 NULL - - no_errors GRM8 2918 genome.wustl.edu 36 7 126670303 126670303 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 7 126670303 126670303 A C SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed missense c.192 p.C64W 1 NULL - - no_errors MLL3 58508 genome.wustl.edu 36 7 151593143 151593143 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 7 151593143 151593143 T G SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.1097 p.Y366S 1 HMMPfam_PHD AT_hook;HMMPfam_AT_hook;HMG_box;HMMPfam_HMG_box;SET;HMMPfam_SET;PHD;HMMPfam_PHD;FYRN;HMMPfam_FYRN;FYRC;HMMPfam_FYRC - no_errors STK31 56164 genome.wustl.edu 36 7 23741746 23741746 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 7 23741746 23741746 C G SNP STK31 NM_031414 human genbank 54_36p 1 reviewed missense c.548 p.S183C 0.8 NULL HMMPfam_Pkinase;HMMPfam_TUDOR;superfamily_Protein kinase-like (PK-like);superfamily_Staphylococcal nuclease;superfamily_Tudor/PWWP/MBT - no_errors GRM3 2913 genome.wustl.edu 36 7 86306689 86306689 + Silent SNP T T C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 7 86306689 86306689 T C SNP GRM3 NM_000840 human genbank 54_36p 1 reviewed silent c.1923 p.C641 0.49 HMMPfam_7tm_3 HMMPfam_ANF_receptor;HMMPfam_NCD3G;superfamily_Periplasmic binding protein-like I;superfamily_TNF receptor-like;HMMPfam_7tm_3 - no_errors ASAP1 50807 genome.wustl.edu 36 8 131142205 131142205 + Silent SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 8 131142205 131142205 C G SNP ASAP1 NM_018482 human genbank 54_36p -1 validated silent c.2994 p.L998 1 NULL HMMPfam_ArfGap;superfamily_Pyk2-associated protein beta ARF-GAP domain;HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_PH;HMMPfam_Ank;superfamily_Ankyrin repeat;superfamily_PH domain-like - no_errors SLC20A2 6575 genome.wustl.edu 36 8 42448973 42448973 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 8 42448973 42448973 G A SNP SLC20A2 NM_006749 human genbank 54_36p -1 provisional silent c.93 p.N31 1 NULL - - no_errors TOPORS 10210 genome.wustl.edu 36 9 32534141 32534141 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 9 32534141 32534141 C T SNP TOPORS NM_005802 human genbank 54_36p -1 validated missense c.382 p.V128I 1 HMMPfam_zf-C3HC4 HMMPfam_zf-C3HC4;superfamily_RING/U-box - no_errors CA9 768 genome.wustl.edu 36 9 35664151 35664151 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 9 35664151 35664151 G A SNP CA9 NM_001216 human genbank 54_36p 1 reviewed silent c.195 p.L65 0.46 NULL HMMPfam_Carb_anhydrase;superfamily_Carbonic anhydrase - no_errors DOCK8 81704 genome.wustl.edu 36 9 362251 362251 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 9 362251 362251 A T SNP DOCK8 NM_203447 human genbank 54_36p 1 validated nonsense c.1870 p.K624* 1 NULL HMMPfam_Ded_cyto;superfamily_ARM repeat - no_errors MELK 9833 genome.wustl.edu 36 9 36641858 36641858 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 9 36641858 36641858 C T SNP MELK NM_014791 human genbank 54_36p 1 provisional missense c.1037 p.P346L 0.02 NULL HMMPfam_Pkinase;HMMPfam_KA1;superfamily_Protein kinase-like (PK-like);superfamily_Kinase associated domain 1 KA1 - no_errors FAM75A3 727830 genome.wustl.edu 36 9 40694394 40694394 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 9 40694394 40694394 G A SNP FAM75A3 NM_001083124 human genbank 54_36p 1 predicted missense c.2051 p.R684K 0 NULL - - no_errors VSIG1 340547 genome.wustl.edu 36 X 107196873 107196873 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 X 107196873 107196873 C G SNP VSIG1 NM_182607 human genbank 54_36p 1 provisional missense c.265 p.R89G 0.55 NULL - - no_errors DUSP9 1852 genome.wustl.edu 36 X 152568775 152568775 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 X 152568775 152568775 A T SNP DUSP9 NM_001395 human genbank 54_36p 1 reviewed missense c.976 p.N326Y 1 HMMPfam_DSPc HMMPfam_DSPc;superfamily_(Phosphotyrosine protein) phosphatases II;superfamily_Rhodanese/Cell cycle control phosphatase - no_errors MPP1 4354 genome.wustl.edu 36 X 153673314 153673314 + Silent SNP T T A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 X 153673314 153673314 T A SNP MPP1 NM_002436 human genbank 54_36p -1 reviewed silent c.249 p.G83 0.98 NULL - - no_errors ENSG00000183704 0 genome.wustl.edu 36 Y 11960742 11960742 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9bd227fa-e52a-4805-bd04-ad63df0930af f96a9dfb-78a7-4c0d-adf1-d3125400cfa8 Y 11960742 11960742 G A SNP ENSG00000183704 ENST00000331172 human ensembl 54_36p -1 known nonsense c.535 p.R179* 0.04 NULL - - no_stop_codon