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 PRAMEF4 400735 genome.wustl.edu 36 1 12864794 12864794 + Missense_Mutation SNP A A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 1 12864794 12864794 A G SNP PRAMEF4 NM_001009611 human genbank 54_36p -1 validated missense c.343 p.W115R 0.09 NULL - - no_errors APH1A 51107 genome.wustl.edu 36 1 148507029 148507029 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 1 148507029 148507029 G C SNP APH1A NM_001077628 human genbank 54_36p -1 validated missense c.236 p.S79C 1 NULL - - no_errors HRNR 388697 genome.wustl.edu 36 1 150453461 150453461 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 1 150453461 150453461 C T SNP HRNR NM_001009931 human genbank 54_36p -1 validated missense c.7268 p.R2423Q 0 NULL - - no_errors KIAA0467 23334 genome.wustl.edu 36 1 43664194 43664194 + Silent SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 1 43664194 43664194 G A SNP KIAA0467 NM_015284 human genbank 54_36p 1 predicted silent c.390 p.P130 NULL - - no_errors ZFYVE9 9372 genome.wustl.edu 36 1 52584418 52584418 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 1 52584418 52584418 C G SNP ZFYVE9 NM_004799 human genbank 54_36p 1 reviewed missense c.4215 p.C1405W 1 NULL HMMPfam_FYVE;superfamily_FYVE/PHD zinc finger - no_errors ENO1 2023 genome.wustl.edu 36 1 8846605 8846605 + Silent SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 1 8846605 8846605 G A SNP ENO1 NM_001428 human genbank 54_36p -1 reviewed silent c.999 p.N333 HMMPfam_Enolase_C HMMPfam_Enolase_C;HMMPfam_Enolase_N;superfamily_Enolase C-terminal domain-like;superfamily_Enolase N-terminal domain-like - no_errors LGI1 9211 genome.wustl.edu 36 10 95543049 95543049 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 10 95543049 95543049 G C SNP LGI1 NM_005097 human genbank 54_36p 1 reviewed missense c.790 p.E264Q 1 HMMPfam_EPTP HMMPfam_LRRCT;HMMPfam_LRR_1;HMMPfam_EPTP;superfamily_L domain-like - no_errors MYO7A 4647 genome.wustl.edu 36 11 76548208 76548208 + Silent SNP C G G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 11 76548208 76548208 C G SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed silent c.1071 p.S357 0.3 NULL - - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42103950 42103950 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 12 42103950 42103950 C G SNP ADAMTS20 ENST00000389417 human ensembl 54_36p -1 known missense c.4332 p.L1444F NULL - - no_errors PABPN1 8106 genome.wustl.edu 36 14 22861342 22861342 + Missense_Mutation SNP A A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 14 22861342 22861342 A G SNP PABPN1 NM_004643 human genbank 54_36p 1 reviewed missense c.464 p.N155S 1 NULL - - no_errors CPSF2 53981 genome.wustl.edu 36 14 91697797 91697797 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 14 91697797 91697797 T G SNP CPSF2 NM_017437 human genbank 54_36p 1 validated missense c.2305 p.Y769D 1 NULL - - no_errors NDUFAF1 51103 genome.wustl.edu 36 15 39474438 39474438 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 15 39474438 39474438 T G SNP NDUFAF1 NM_016013 human genbank 54_36p -1 validated missense c.670 p.K224Q 0.01 HMMPfam_CIA30 HMMPfam_CIA30 - no_errors LIPC 3990 genome.wustl.edu 36 15 56617868 56617868 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 15 56617868 56617868 C T SNP LIPC NM_000236 human genbank 54_36p 1 reviewed silent c.133 p.L45 HMMPfam_Lipase HMMPfam_PLAT;HMMPfam_Lipase;superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain);superfamily_alpha/beta-Hydrolases - no_errors LRRC49 54839 genome.wustl.edu 36 15 69016209 69016209 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 15 69016209 69016209 T G SNP LRRC49 NM_017691 human genbank 54_36p 1 validated missense c.767 p.I256R 1 NULL - - no_errors ADAMTS17 170691 genome.wustl.edu 36 15 98512972 98512972 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 15 98512972 98512972 C T SNP ADAMTS17 NM_139057 human genbank 54_36p -1 reviewed missense c.1258 p.G420S 1 HMMPfam_Reprolysin "HMMPfam_TSP_1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (""zincins"") catalytic domain,superfamily_TSP-1 type 1 repeat" - no_errors HS3ST2 9956 genome.wustl.edu 36 16 22833913 22833913 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 16 22833913 22833913 C T SNP HS3ST2 NM_006043 human genbank 54_36p 1 reviewed silent c.633 p.A211 1 HMMPfam_Sulfotransfer_1 HMMPfam_Sulfotransfer_1;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CDH3 1001 genome.wustl.edu 36 16 67276041 67276041 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 16 67276041 67276041 G A SNP CDH3 NM_001793 human genbank 54_36p 1 reviewed missense c.1237 p.E413K 1 HMMPfam_Cadherin HMMPfam_Cadherin;superfamily_Cadherin-like;HMMPfam_Cadherin_C - no_errors SPACA3 124912 genome.wustl.edu 36 17 28346653 28346653 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 17 28346653 28346653 G A SNP SPACA3 NM_173847 human genbank 54_36p 1 provisional missense c.148 p.A50T 0.01 NULL - - no_errors LRRC46 90506 genome.wustl.edu 36 17 43267764 43267764 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 17 43267764 43267764 G A SNP LRRC46 NM_033413 human genbank 54_36p 1 provisional missense c.272 p.R91H 1 NULL - - no_errors GPRC5C 55890 genome.wustl.edu 36 17 69948051 69948051 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 17 69948051 69948051 C T SNP GPRC5C NM_022036 human genbank 54_36p 1 reviewed missense c.676 p.R226W 0.94 NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7519259 7519259 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 17 7519259 7519259 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.396 p.K132N 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 HRH4 59340 genome.wustl.edu 36 18 20311168 20311168 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 18 20311168 20311168 G T SNP HRH4 NM_021624 human genbank 54_36p 1 reviewed missense c.817 p.A273S NULL - - no_errors MAST3 23031 genome.wustl.edu 36 19 18115610 18115610 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 19 18115610 18115610 T A SNP MAST3 NM_015016 human genbank 54_36p 1 validated missense c.2290 p.S764T 0.01 NULL - - no_errors PSG11 5680 genome.wustl.edu 36 19 48211161 48211161 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 19 48211161 48211161 C T SNP PSG11 NM_002785 human genbank 54_36p -1 validated missense c.911 p.R304H 0.26 NULL - - no_errors LOC100128975 100128975 genome.wustl.edu 36 19 19909009 19909009 + Silent SNP G A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 19 19909009 19909009 G A SNP LOC100128975 XM_001719745 human genbank 54_36p -1 model silent c.279 p.V93 NULL - - no_errors PIKFYVE 200576 genome.wustl.edu 36 2 208846602 208846602 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 2 208846602 208846602 G C SNP PIP5K3 NM_015040 human genbank 54_36p 1 validated missense c.222 p.W74C 1 NULL "HMMPfam_FYVE;HMMPfam_DEP;HMMPfam_Cpn60_TCP1;HMMPfam_PIP5K;superfamily_FYVE/PHD zinc finger;superfamily_""Winged helix"" DNA-binding domain;superfamily_Spectrin repeat;superfamily_GroEL apical domain-like;superfamily_GroEL-intermediate domain like;superfamily_SAICAR synthase-like" - no_errors DLGAP4 22839 genome.wustl.edu 36 20 34494244 34494244 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 20 34494244 34494244 G T SNP DLGAP4 NM_014902 human genbank 54_36p 1 reviewed missense c.710 p.S237I 0.98 NULL - - no_errors EIF4ENIF1 56478 genome.wustl.edu 36 22 30166737 30166737 + Frame_Shift_Del DEL C C - novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C - C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 22 30166737 30166737 C - DEL EIF4ENIF1 NM_019843 human genbank 54_36p -1 reviewed frame_shift_del c.2669 p.G890fs 1 NULL - (deletion:cds_exon[30166690;30166854]) no_errors GPR149 344758 genome.wustl.edu 36 3 155538219 155538219 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 3 155538219 155538219 G A SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional missense c.2159 p.A720V 1 NULL - - no_errors PLXNB1 5364 genome.wustl.edu 36 3 48429549 48429549 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 3 48429549 48429549 C A SNP PLXNB1 NM_002673 human genbank 54_36p -1 validated missense c.4569 p.K1523N 1 NULL - - no_errors COL7A1 1294 genome.wustl.edu 36 3 48598288 48598288 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 3 48598288 48598288 C A SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed missense c.3765 p.Q1255H 1 NULL HMMPfam_VWA;HMMPfam_Kunitz_BPTI;superfamily_BPTI-like;HMMPfam_fn3;HMMPfam_Collagen;superfamily_Fibronectin type III;superfamily_vWA-like - no_errors COL7A1 1294 genome.wustl.edu 36 3 48604189 48604189 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 3 48604189 48604189 C T SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed silent c.1428 p.P476 0.954 HMMPfam_fn3 HMMPfam_VWA,HMMPfam_Kunitz_BPTI,superfamily_BPTI-like,HMMPfam_fn3,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like - no_errors SLC2A9 56606 genome.wustl.edu 36 4 9596452 9596452 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 4 9596452 9596452 C T SNP SLC2A9 NM_020041 human genbank 54_36p -1 reviewed silent c.474 p.S158 NULL - - no_errors SIM1 6492 genome.wustl.edu 36 6 101002802 101002802 + Missense_Mutation SNP G G T Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 6 101002802 101002802 G T SNP SIM1 NM_005068 human genbank 54_36p -1 reviewed missense c.791 p.T264N 1 HMMPfam_PAS_3 HMMPfam_HLH,HMMPfam_SIM_C,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_PAS_3,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain) - no_errors UTRN 7402 genome.wustl.edu 36 6 144848293 144848293 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 6 144848293 144848293 T G SNP UTRN NM_007124 human genbank 54_36p 1 reviewed missense c.3767 p.M1256R 0.06 NULL - - no_errors PPP1R3A 5506 genome.wustl.edu 36 7 113346185 113346185 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 7 113346185 113346185 G A SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.103 p.P35S 1 NULL HMMPfam_CBM_21 - no_errors THSD7A 221981 genome.wustl.edu 36 7 11642346 11642346 + Nonsense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 7 11642346 11642346 G A SNP THSD7A NM_015204 human genbank 54_36p -1 validated nonsense c.958 p.Q320* 1 NULL - - no_errors LOC653052 653052 genome.wustl.edu 36 7 139063067 139063067 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 7 139063067 139063067 C T SNP LOC653052 XM_925800 human genbank 54_36p -1 model missense c.253 p.V85I 1 NULL - - no_errors EPDR1 54749 genome.wustl.edu 36 7 37926788 37926800 + Frame_Shift_Del DEL AGGCAGTGGCAGC AGGCAGTGGCAGC - novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 AGGCAGTGGCAGC AGGCAGTGGCAGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 7 37926788 37926800 AGGCAGTGGCAGC - DEL EPDR1 NM_017549 human genbank 54_36p 1 reviewed frame_shift_del c.82_94 p.Q31fs 0.083:0.084:0.084:0.084:0.084:0.084:0.083:0.082:0.080:0.077:0.074:0.070:0.065 NULL - (deletion:cds_exon[37926707;37927335]) no_errors ADCY1 107 genome.wustl.edu 36 7 45684099 45684099 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 7 45684099 45684099 G A SNP ADCY1 NM_021116 human genbank 54_36p 1 reviewed missense c.1712 p.R571H 1 NULL HMMPfam_Guanylate_cyc;superfamily_Adenylyl and guanylyl cyclase catalytic domain;superfamily_Voltage-gated potassium channels - no_errors CYP11B1 1584 genome.wustl.edu 36 8 143957893 143957893 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 8 143957893 143957893 C T SNP CYP11B1 ENST00000377675 human ensembl 54_36p -1 known missense c.245 p.R82Q NULL HMMPfam_p450;superfamily_Cytochrome_P450 - no_errors LOC100130134 100130134 genome.wustl.edu 36 X 89181291 89181291 + RNA SNP A A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd X 89181291 89181291 A G SNP LOC100130134 XR_037810 human genbank 54_36p -1 model rna NULL NULL 0.01 - - - pseudogene NTRK2 4915 genome.wustl.edu 36 9 86760151 86760151 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd 9 86760151 86760151 C T SNP NTRK2 NM_006180 human genbank 54_36p 1 reviewed missense c.2071 p.R691C 1 HMMPfam_Pkinase_Tyr LRRNT;HMMPfam_LRRNT;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;LRR_1;HMMPfam_LRR_1;Protein kinase-like (PK-like);superfamily_Protein kinase-like (PK-like);I-set;HMMPfam_I-set;Immunoglobulin;superfamily_Immunoglobulin;L domain-like;superfamily_L domain-like - no_errors MBTPS2 51360 genome.wustl.edu 36 X 21771329 21771329 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd X 21771329 21771329 C T SNP MBTPS2 NM_015884 human genbank 54_36p 1 validated missense c.196 p.R66W 1 NULL superfamily_PDZ domain-like;HMMPfam_Peptidase_M50 - no_errors ARR3 407 genome.wustl.edu 36 X 69413276 69413276 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 62269d21-50dc-42b0-b1e4-75ed8010080a 79fa14ed-bc6b-444f-a2d0-b69ec117defd X 69413276 69413276 C T SNP ARR3 NM_004312 human genbank 54_36p 1 validated silent c.438 p.F146 1 NULL - - no_errors