Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error MT-CO3 4514 genome.wustl.edu 36 MT 8505 8505 + Missense_Mutation SNP T T C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 MT 8505 8505 T C SNP MT-CO3 ENST00000361851 human ensembl 54_36p +1 known missense c.139 p.Y47H NULL HMMPfam_ATP-synt_8 HMMPfam_ATP-synt_8 - no_errors GNPTG 84572 genome.wustl.edu 36 16 1352862 1352862 + Silent SNP G G T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 16 1352862 1352862 G T SNP GNPTG NM_032520 human genbank 54_36p +1 validated silent c.777 p.L259 0.004 NULL superfamily_Mannose 6-phosphate receptor domain,HMMPfam_PRKCSH - no_errors NOP2 4839 genome.wustl.edu 36 12 6541187 6541187 + Missense_Mutation SNP C C A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 12 6541187 6541187 C A SNP NOP2 NM_001033714 human genbank 54_36p -1 validated missense c.1099 p.A367S 1.000 superfamily_SSF53335,HMMPfam_Nol1_Nop2_Fmu superfamily_SSF53335,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN,HMMPfam_P120R - no_errors TP53 7157 genome.wustl.edu 36 17 7518285 7518285 + Missense_Mutation SNP A A C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 17 7518285 7518285 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.721 p.S241A 0.999 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors FASTKD3 79072 genome.wustl.edu 36 5 7920012 7920012 + Silent SNP A A C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 7920012 7920012 A C SNP FASTKD3 NM_024091 human genbank 54_36p -1 validated silent c.1185 p.T395 0.624 NULL HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors USP7 7874 genome.wustl.edu 36 16 8906617 8906617 + Missense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 16 8906617 8906617 G A SNP USP7 NM_003470 human genbank 54_36p -1 validated missense c.1501 p.H501Y 1.000 superfamily_SSF54001,HMMPfam_UCH superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors EPS8 2059 genome.wustl.edu 36 12 15698413 15698413 + Missense_Mutation SNP T T G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 12 15698413 15698413 T G SNP EPS8 NM_004447 human genbank 54_36p -1 reviewed missense c.1183 p.N395H 0.951 NULL HMMSmart_PTB,superfamily_SSF50729,HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors JAK3 3718 genome.wustl.edu 36 19 17803152 17803152 + Missense_Mutation SNP T T A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 19 17803152 17803152 T A SNP JAK3 NM_000215 human genbank 54_36p -1 reviewed missense c.2863 p.I955F 1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR HMMSmart_SM00295,superfamily_SH2 domain,HMMSmart_SM00252,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_THIOL_PROTEASE_HIS,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors FAM18B 51030 genome.wustl.edu 36 17 18648190 18648190 + Missense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 17 18648190 18648190 G A SNP FAM18B NM_016078 human genbank 54_36p +1 predicted missense c.477 p.M159I 1.000 HMMPfam_DUF846 HMMPfam_DUF846 - no_errors RABGGTA 5875 genome.wustl.edu 36 14 23809074 23809074 + Missense_Mutation SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 14 23809074 23809074 C T SNP RABGGTA NM_004581 human genbank 54_36p -1 validated missense c.352 p.G118S 0.859 superfamily_Prenyl_trans,HMMPfam_PPTA superfamily_Prenyl_trans,HMMPfam_PPTA,superfamily_RabGG_trans_A,HMMPfam_RabGGT_insert,superfamily_SSF52058,HMMPfam_LRR_1 - no_errors LOC730087 730087 genome.wustl.edu 36 19 23889473 23889473 + Missense_Mutation SNP A T T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 19 23889473 23889473 A T SNP LOC730087 XM_001726951 human genbank 54_36p +1 model missense c.254 p.N85I 0.010 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HIST1H2BB 3018 genome.wustl.edu 36 6 26151790 26151790 + Missense_Mutation SNP C G G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 6 26151790 26151790 C G SNP HIST1H2BB NM_021062 human genbank 54_36p -1 reviewed missense c.75 p.K25N 0.022 superfamily_Histone-fold superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors APBA2 321 genome.wustl.edu 36 15 27133549 27133549 + Missense_Mutation SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 15 27133549 27133549 C T SNP APBA2 NM_005503 human genbank 54_36p +1 reviewed missense c.170 p.A57V 0.669 NULL superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ - no_errors GDPD3 79153 genome.wustl.edu 36 16 30030215 30030215 + Missense_Mutation SNP G G C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 16 30030215 30030215 G C SNP GDPD3 NM_024307 human genbank 54_36p -1 validated missense c.702 p.I234M 1.000 superfamily_PLC-like phosphodiesterases,HMMPfam_GDPD superfamily_PLC-like phosphodiesterases,HMMPfam_GDPD - no_errors FAM47A 158724 genome.wustl.edu 36 X 34058819 34058819 + Missense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 X 34058819 34058819 G A SNP FAM47A NM_203408 human genbank 54_36p -1 predicted missense c.1498 p.R500W 0.000 NULL NULL - no_errors C12orf40 283461 genome.wustl.edu 36 12 38363099 38363099 + Missense_Mutation SNP A A C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 12 38363099 38363099 A C SNP C12orf40 NM_001031748 human genbank 54_36p +1 validated missense c.1106 p.E369A 0.040 NULL NULL - no_errors ALDH1B1 219 genome.wustl.edu 36 9 38386587 38386587 + Missense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 9 38386587 38386587 G A SNP ALDH1B1 NM_000692 human genbank 54_36p +1 reviewed missense c.842 p.R281K 0.992 superfamily_ALDH-like,HMMPfam_Aldedh superfamily_ALDH-like,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors FAM113B 91523 genome.wustl.edu 36 12 45915259 45915259 + Missense_Mutation SNP G G C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 12 45915259 45915259 G C SNP FAM113B NM_138371 human genbank 54_36p +1 predicted missense c.146 p.R49T 0.998 NULL superfamily_SGNH hydrolase - no_errors ZNF859P 0 genome.wustl.edu 36 1 50084234 50084234 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 1 50084234 50084234 C T SNP ZNF859P ENST00000401053 human ensembl 54_36p +1 known nonsense c.988 p.R330* 0.124 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon RPGRIP1L 23322 genome.wustl.edu 36 16 52240476 52240476 + Missense_Mutation SNP T T G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 16 52240476 52240476 T G SNP RPGRIP1L NM_015272 human genbank 54_36p -1 reviewed missense c.2205 p.L735F 0.997 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors ST18 9705 genome.wustl.edu 36 8 53234148 53234148 + Missense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 8 53234148 53234148 G A SNP ST18 NM_014682 human genbank 54_36p -1 validated missense c.1669 p.R557C 0.690 HMMPfam_MYT1 superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1 - no_errors PCSK9 255738 genome.wustl.edu 36 1 55290950 55290950 + Missense_Mutation SNP G G C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 1 55290950 55290950 G C SNP PCSK9 NM_174936 human genbank 54_36p +1 reviewed missense c.697 p.V233L 0.998 superfamily_Subtilisin-like,HMMPfam_Peptidase_S8 superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8 - no_errors TCF12 6938 genome.wustl.edu 36 15 55341640 55341640 + Silent SNP T T C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 15 55341640 55341640 T C SNP TCF12 NM_207036 human genbank 54_36p +1 reviewed silent c.1524 p.S508 1.000 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH - no_errors ZNF613 79898 genome.wustl.edu 36 19 57140725 57140725 + Missense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 19 57140725 57140725 G A SNP ZNF613 NM_001031721 human genbank 54_36p +1 provisional missense c.1777 p.E593K 0.000 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PPP2R5E 5529 genome.wustl.edu 36 14 62990280 62990280 + Missense_Mutation SNP G G T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 14 62990280 62990280 G T SNP PPP2R5E NM_006246 human genbank 54_36p -1 reviewed missense c.234 p.D78E 1.000 HMMPfam_B56,superfamily_ARM repeat HMMPfam_B56,superfamily_ARM repeat - no_errors GLCE 26035 genome.wustl.edu 36 15 67348419 67348419 + Missense_Mutation SNP A A C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 15 67348419 67348419 A C SNP GLCE NM_015554 human genbank 54_36p +1 validated missense c.1636 p.K546Q 0.987 HMMPfam_C5-epim_C HMMPfam_C5-epim_C - no_errors RAD17 5884 genome.wustl.edu 36 5 68717800 68717800 + Missense_Mutation SNP A A T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 68717800 68717800 A T SNP RAD17 NM_133339 human genbank 54_36p +1 reviewed missense c.769 p.I257L 1.000 HMMPfam_Rad17,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Rad17,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors FOLR3 2352 genome.wustl.edu 36 11 71528471 71528471 + Missense_Mutation SNP A A G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 11 71528471 71528471 A G SNP FOLR3 ENST00000325101 human ensembl 54_36p +1 known missense c.683 p.Y228C 0.899 NULL HMMPfam_Folate_rec - no_errors PSAP 5660 genome.wustl.edu 36 10 73248481 73248481 + Missense_Mutation SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 10 73248481 73248481 C T SNP PSAP NM_001042465 human genbank 54_36p -1 reviewed missense c.1447 p.G483R 1.000 superfamily_Saposin_like,HMMSmart_SapB,HMMPfam_SapB_2 HMMPfam_SapA,HMMSmart_SAPA,superfamily_Saposin_like,HMMPfam_SapB_1,HMMSmart_SapB,HMMPfam_SapB_2 - no_errors SLAIN1 122060 genome.wustl.edu 36 13 77233171 77233171 + Missense_Mutation SNP G G T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 13 77233171 77233171 G T SNP SLAIN1 NM_001040153 human genbank 54_36p +1 validated missense c.899 p.S300I 0.997 NULL NULL - no_errors PHIP 55023 genome.wustl.edu 36 6 79707624 79707624 + Missense_Mutation SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 6 79707624 79707624 C T SNP PHIP ENST00000355098 human ensembl 54_36p -1 known missense c.1145 p.R382K 1.000 NULL superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors LOC642585 0 genome.wustl.edu 36 X 80072225 80072225 + RNA SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 X 80072225 80072225 C T SNP LOC642585 XR_038848 human genbank 54_36p +1 model rna NULL NULL 0.839 - - - pseudogene NBPF22P 285622 genome.wustl.edu 36 5 85628062 85628062 + RNA SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 85628062 85628062 C T SNP NBPF22P NR_003719 human genbank 54_36p +1 validated rna NULL NULL 0.022 - - - pseudogene TMEM55A 55529 genome.wustl.edu 36 8 92077219 92077219 + Silent SNP G G T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 8 92077219 92077219 G T SNP TMEM55A NM_018710 human genbank 54_36p -1 validated silent c.636 p.G212 0.999 HMMPfam_Tmemb_55A HMMPfam_Tmemb_55A - no_errors LOC643486 643486 genome.wustl.edu 36 X 95479215 95479215 + RNA SNP T T C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 X 95479215 95479215 T C SNP LOC643486 NR_003539 human genbank 54_36p -1 provisional rna NULL NULL 0.646 - - - pseudogene FBXO24 26261 genome.wustl.edu 36 7 100028531 100028531 + Missense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 7 100028531 100028531 G A SNP FBXO24 NM_033506 human genbank 54_36p +1 reviewed missense c.748 p.V250M 0.998 superfamily_RCC1/BLIP-II superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_RCC1/BLIP-II - no_errors TFR2 7036 genome.wustl.edu 36 7 100063036 100063036 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 7 100063036 100063036 G T SNP TFR2 NM_003227 human genbank 54_36p -1 reviewed nonsense c.1782 p.Y594* 1.000 superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28 superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer - no_errors DYNC2H1 79659 genome.wustl.edu 36 11 102531282 102531282 + Missense_Mutation SNP A A C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 11 102531282 102531282 A C SNP DYNC2H1 NM_001080463 human genbank 54_36p +1 provisional missense c.3586 p.I1196L 0.997 HMMPfam_DHC_N2 HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors CENPE 1062 genome.wustl.edu 36 4 104323463 104323463 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 4 104323463 104323463 G A SNP CENPE NM_001813 human genbank 54_36p -1 validated nonsense c.868 p.R290* 1.000 HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,PatternScan_AA_TRNA_LIGASE_I - no_errors HBXIP 10542 genome.wustl.edu 36 1 110751860 110751860 + Missense_Mutation SNP C C G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 1 110751860 110751860 C G SNP HBXIP NM_006402 human genbank 54_36p -1 reviewed missense c.152 p.R51P 0.000 NULL NULL - no_errors ABHD10 55347 genome.wustl.edu 36 3 113188535 113188535 + Missense_Mutation SNP G G T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 3 113188535 113188535 G T SNP ABHD10 NM_018394 human genbank 54_36p +1 validated missense c.523 p.V175L 0.905 superfamily_SSF53474,HMMPfam_Abhydrolase_1 superfamily_SSF53474,HMMPfam_Abhydrolase_1 - no_errors CCDC80 151887 genome.wustl.edu 36 3 113839777 113839777 + Missense_Mutation SNP T T A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 3 113839777 113839777 T A SNP CCDC80 NM_199511 human genbank 54_36p -1 validated missense c.1666 p.N556Y 0.970 NULL NULL - no_errors KIAA1407 57577 genome.wustl.edu 36 3 115180396 115180396 + Missense_Mutation SNP T T G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 3 115180396 115180396 T G SNP KIAA1407 NM_020817 human genbank 54_36p -1 predicted missense c.2459 p.Q820P 0.998 NULL NULL - no_errors MEGF10 84466 genome.wustl.edu 36 5 126799008 126799008 + Missense_Mutation SNP A A G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 126799008 126799008 A G SNP MEGF10 NM_032446 human genbank 54_36p +1 validated missense c.2032 p.N678D 1.000 superfamily_Plant inhibitors of proteinases and amylases,HMMSmart_SM00181,superfamily_EGF/Laminin HMMPfam_EMI,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00180,HMMPfam_Laminin_EGF,HMMPfam_EGF_2,superfamily_Plant inhibitors of proteinases and amylases - no_errors LOC100130600 0 genome.wustl.edu 36 7 128085394 128085394 + Silent SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 7 128085394 128085394 C T SNP LOC100130600 XM_001726460 human genbank 54_36p -1 model silent c.432 p.L144 0.997 NULL NULL - no_errors TMCC1 23023 genome.wustl.edu 36 3 130853173 130853173 + Missense_Mutation SNP C C G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 3 130853173 130853173 C G SNP TMCC1 NM_001017395 human genbank 54_36p -1 validated missense c.1803 p.L601F 0.990 HMMPfam_Tmemb_cc2 HMMPfam_Tmemb_cc2 - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131516002 131516002 + Silent SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 7 131516002 131516002 C T SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated silent c.3522 p.G1174 1.000 HMMSmart_SM00429,HMMPfam_TIG,superfamily_E set domains superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP - no_errors ANKHD1-EIF4EBP3 404734 genome.wustl.edu 36 5 139889231 139889231 + Silent SNP C C T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 139889231 139889231 C T SNP ANKHD1-EIF4EBP3 NM_020690 human genbank 54_36p +1 reviewed silent c.6516 p.G2172 0.513 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SSF54791,HMMSmart_KH,HMMPfam_KH_1 - no_errors PCDHB7 56129 genome.wustl.edu 36 5 140533294 140533294 + Missense_Mutation SNP G G T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 140533294 140533294 G T SNP PCDHB7 NM_018940 human genbank 54_36p +1 reviewed missense c.694 p.V232F 0.725 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112 - no_errors PCDHGA3 56112 genome.wustl.edu 36 5 140704076 140704076 + Missense_Mutation SNP C C G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 140704076 140704076 C G SNP PCDHGA3 NM_018916 human genbank 54_36p +1 reviewed missense c.292 p.Q98E 0.000 HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDH1 5097 genome.wustl.edu 36 5 141223415 141223415 + Missense_Mutation SNP C C G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 141223415 141223415 C G SNP PCDH1 NM_032420 human genbank 54_36p -1 reviewed missense c.2665 p.G889R 1.000 HMMPfam_Protocadherin superfamily_Cadherin,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_GREAB_2,HMMPfam_Protocadherin - no_errors PPARGC1B 133522 genome.wustl.edu 36 5 149196753 149196753 + Missense_Mutation SNP C C A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 149196753 149196753 C A SNP PPARGC1B NM_133263 human genbank 54_36p +1 provisional missense c.2542 p.L848I 0.932 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors FAT2 2196 genome.wustl.edu 36 5 150904835 150904835 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 150904835 150904835 G A SNP FAT2 NM_001447 human genbank 54_36p -1 reviewed nonsense c.6046 p.Q2016* 0.002 superfamily_Cadherin-like,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00112,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2 - no_errors GPR160 26996 genome.wustl.edu 36 3 171285089 171285089 + Missense_Mutation SNP G G C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 3 171285089 171285089 G C SNP GPR160 NM_014373 human genbank 54_36p +1 validated missense c.635 p.R212T 0.002 NULL PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZBTB37 84614 genome.wustl.edu 36 1 172106138 172106138 + Missense_Mutation SNP C C A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 1 172106138 172106138 C A SNP ZBTB37 NM_032522 human genbank 54_36p +1 provisional missense c.152 p.A51D 1.000 superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB - no_errors LOC100128760 0 genome.wustl.edu 36 5 176625621 176625621 + RNA SNP G G A novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 5 176625621 176625621 G A SNP LOC100128760 XR_038526 human genbank 54_36p -1 model rna NULL NULL 0.998 - - - pseudogene HMCN1 83872 genome.wustl.edu 36 1 184273695 184273695 + Missense_Mutation SNP C C G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 1 184273695 184273695 C G SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.5756 p.P1919R 0.993 superfamily_Immunoglobulin superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2 - no_errors LOC391722 391722 genome.wustl.edu 36 4 185457358 185457358 + Missense_Mutation SNP G G T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 4 185457358 185457358 G T SNP LOC391722 XM_373042 human genbank 54_36p -1 model missense c.1052 p.A351E 1.000 superfamily_EF-hand superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors ICOS 29851 genome.wustl.edu 36 2 204530828 204530828 + Missense_Mutation SNP C C G novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 2 204530828 204530828 C G SNP ICOS NM_012092 human genbank 54_36p +1 reviewed missense c.563 p.T188R 0.291 NULL NULL - no_errors ABCA12 26154 genome.wustl.edu 36 2 215573970 215573970 + Silent SNP A A T novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 2 215573970 215573970 A T SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed silent c.2883 p.P961 0.880 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors SP100 6672 genome.wustl.edu 36 2 231022551 231022551 + Missense_Mutation SNP G G C novel unknown TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0 e2a327aa-4c95-42d5-b446-ea9a04476ed0 2 231022551 231022551 G C SNP SP100 NM_001080391 human genbank 54_36p +1 validated missense c.618 p.E206D 0.000 NULL HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors