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-ATP6 4508 genome.wustl.edu 36 MT 8744 8744 + Missense_Mutation SNP G G A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c MT 8744 8744 G A SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known missense c.217 p.V73M NULL HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A - no_errors ZDHHC11B 653082 genome.wustl.edu 36 5 786902 786902 + Missense_Mutation SNP T T G novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 5 786902 786902 T G SNP ZDHHC11B XM_926053 human genbank 54_36p -1 model missense c.988 p.T330P 0.000 NULL HMMPfam_zf-DHHC - no_errors NUP98 4928 genome.wustl.edu 36 11 3661233 3661233 + Missense_Mutation SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 11 3661233 3661233 G T SNP NUP98 NM_016320 human genbank 54_36p -1 reviewed missense c.4691 p.A1564D 1.000 NULL superfamily_SSF88633,HMMPfam_Nucleoporin2,superfamily_Peptidase_S59 - no_errors FARS2 10667 genome.wustl.edu 36 6 5716609 5716609 + Missense_Mutation SNP A A T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 6 5716609 5716609 A T SNP FARS2 NM_006567 human genbank 54_36p +1 reviewed missense c.1304 p.Q435L 0.992 superfamily_Fdx_AntiC_bd,HMMPfam_FDX-ACB superfamily_SSF55681,HMMPfam_tRNA-synt_2d,superfamily_Fdx_AntiC_bd,HMMPfam_FDX-ACB - no_errors TP53 7157 genome.wustl.edu 36 17 7518273 7518273 + Missense_Mutation SNP C T T rs28934575 unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 0.996 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 GDF3 9573 genome.wustl.edu 36 12 7734120 7734120 + Missense_Mutation SNP T T C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 12 7734120 7734120 T C SNP GDF3 NM_020634 human genbank 54_36p -1 reviewed missense c.716 p.N239S 0.975 NULL superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1 - no_errors OR5E1P 0 genome.wustl.edu 36 11 7827210 7827210 + Silent SNP C T T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 11 7827210 7827210 C T SNP OR5E1P ENST00000305754 human ensembl 54_36p +1 known silent c.37 p.L13 0.980 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,superfamily_SSF81321 - no_errors OR7G2 390882 genome.wustl.edu 36 19 9074963 9074963 + Missense_Mutation SNP A A C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 19 9074963 9074963 A C SNP OR7G2 NM_001005193 human genbank 54_36p -1 provisional missense c.20 p.L7R 0.000 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZNF559 84527 genome.wustl.edu 36 19 9312831 9312831 + Missense_Mutation SNP C C G novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 19 9312831 9312831 C G SNP ZNF559 NM_032497 human genbank 54_36p +1 provisional missense c.214 p.Q72E 0.011 HMMSmart_KRAB superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC400011 400011 genome.wustl.edu 36 12 16444841 16444841 + RNA SNP A A T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 12 16444841 16444841 A T SNP LOC400011 XR_016968 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene BZW2 28969 genome.wustl.edu 36 7 16704334 16704334 + Missense_Mutation SNP A A T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 7 16704334 16704334 A T SNP BZW2 NM_014038 human genbank 54_36p +1 provisional missense c.1106 p.K369I 1.000 superfamily_ARM repeat,HMMSmart_SM00515,HMMPfam_W2 superfamily_ARM repeat,HMMSmart_SM00515,HMMPfam_W2 - no_errors TMC5 79838 genome.wustl.edu 36 16 19416784 19416784 + Missense_Mutation SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 16 19416784 19416784 G T SNP TMC5 NM_001105248 human genbank 54_36p +1 validated missense c.3016 p.A1006S 0.000 NULL HMMPfam_TMC - no_errors GPRC5B 51704 genome.wustl.edu 36 16 19791072 19791072 + Missense_Mutation SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 16 19791072 19791072 G T SNP GPRC5B NM_016235 human genbank 54_36p -1 reviewed missense c.597 p.D199E 1.000 HMMPfam_7tm_3 PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_7tm_3 - no_errors LOC387646 387646 genome.wustl.edu 36 10 27576461 27576461 + RNA SNP C C T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 10 27576461 27576461 C T SNP LOC387646 NR_003525 human genbank 54_36p -1 provisional rna NULL NULL 0.042 - - - pseudogene EOMES 8320 genome.wustl.edu 36 3 27734229 27734229 + Missense_Mutation SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 3 27734229 27734229 G T SNP EOMES NM_005442 human genbank 54_36p -1 reviewed missense c.1397 p.P466H 1.000 NULL HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2 - no_errors THOC5 8563 genome.wustl.edu 36 22 28243092 28243092 + Missense_Mutation SNP G G C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 22 28243092 28243092 G C SNP THOC5 NM_001002877 human genbank 54_36p -1 validated missense c.1607 p.T536S 1.000 NULL HMMPfam_FimP - no_errors LOC390561 390561 genome.wustl.edu 36 15 28896033 28896033 + Silent SNP G G A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 15 28896033 28896033 G A SNP LOC390561 XM_001726958 human genbank 54_36p +1 model silent c.3228 p.G1076 1.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region BRCA2 675 genome.wustl.edu 36 13 31812221 31812221 + Missense_Mutation SNP A G G novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 13 31812221 31812221 A G SNP BRCA2 NM_000059 human genbank 54_36p +1 reviewed missense c.5729 p.N1910S 0.000 NULL HMMPfam_BRCA2,superfamily_BRCA2_helical,HMMPfam_BRCA-2_helical,superfamily_Nucleic_acid_OB,HMMPfam_BRCA-2_OB1,HMMPfam_Tower,superfamily_SSF81878,HMMPfam_BRCA-2_OB3 - no_errors MTMR12 54545 genome.wustl.edu 36 5 32279398 32279398 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 5 32279398 32279398 C T SNP MTMR12 NM_001040446 human genbank 54_36p -1 reviewed nonsense c.1086 p.W362* 1.000 superfamily_(Phosphotyrosine protein) phosphatases II superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related - no_errors LOC100130041 0 genome.wustl.edu 36 16 34581126 34581126 + RNA SNP A A T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 16 34581126 34581126 A T SNP LOC100130041 XR_037947 human genbank 54_36p +1 model rna NULL NULL 0.977 - - - pseudogene AGXT2 64902 genome.wustl.edu 36 5 35069395 35069395 + Missense_Mutation SNP C C G novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 5 35069395 35069395 C G SNP AGXT2 NM_031900 human genbank 54_36p -1 reviewed missense c.602 p.S201T 0.999 superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_3 superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3 - no_errors TGM4 7047 genome.wustl.edu 36 3 44918149 44918149 + Missense_Mutation SNP G G C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 3 44918149 44918149 G C SNP TGM4 NM_003241 human genbank 54_36p +1 validated missense c.787 p.V263L 0.435 superfamily_SSF54001,HMMSmart_TGc superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,PatternScan_TRANSGLUTAMINASES,HMMPfam_Transglut_core,superfamily_Transglut_C,HMMPfam_Transglut_C - no_errors CTGLF10P 653234 genome.wustl.edu 36 10 45507613 45507613 + Splice_Site SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 10 45507613 45507613 G T SNP CTGLF10P ENST00000406820 human ensembl 54_36p +1 known splice_site c.NULL NULL 0.999 - - - no_coding_region:pseudogene ZNF41 7592 genome.wustl.edu 36 X 47193508 47193508 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c X 47193508 47193508 G T SNP ZNF41 NM_007130 human genbank 54_36p -1 reviewed nonsense c.605 p.S202* 0.002 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 ZNF229 7772 genome.wustl.edu 36 19 49625431 49625431 + Silent SNP G G A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 19 49625431 49625431 G A SNP ZNF229 NM_014518 human genbank 54_36p -1 validated silent c.1365 p.H455 0.550 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_errors GIPR 2696 genome.wustl.edu 36 19 50873003 50873003 + Splice_Site SNP G G C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 19 50873003 50873003 G C SNP GIPR NM_000164 human genbank 54_36p +1 validated splice_site c.925-1 e10-1 1.000 - - - no_errors SUOX 6821 genome.wustl.edu 36 12 54684881 54684881 + Missense_Mutation SNP C C T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 12 54684881 54684881 C T SNP SUOX NM_000456 human genbank 54_36p +1 reviewed missense c.1441 p.R481C 0.238 HMMPfam_Mo-co_dimer,superfamily_Ig_E-set superfamily_Cyt_B5,HMMPfam_Cyt-b5,PatternScan_CYTOCHROME_B5_1,superfamily_Oxidored_molyb,HMMPfam_Oxidored_molyb,PatternScan_MOLYBDOPTERIN_EUK,HMMPfam_Mo-co_dimer,superfamily_Ig_E-set - no_errors C14orf101 54916 genome.wustl.edu 36 14 56152432 56152432 + Missense_Mutation SNP T T C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 14 56152432 56152432 T C SNP C14orf101 NM_017799 human genbank 54_36p +1 validated missense c.875 p.M292T 1.000 NULL NULL - no_errors OR5AP2 338675 genome.wustl.edu 36 11 56165572 56165572 + Missense_Mutation SNP A A T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 11 56165572 56165572 A T SNP OR5AP2 NM_001002925 human genbank 54_36p -1 provisional missense c.920 p.L307Q 0.251 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PEG3 5178 genome.wustl.edu 36 19 62016979 62016979 + Missense_Mutation SNP C C T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 19 62016979 62016979 C T SNP PEG3 NM_006210 human genbank 54_36p -1 provisional missense c.4643 p.R1548H 0.000 NULL HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SYVN1 84447 genome.wustl.edu 36 11 64655577 64655577 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 11 64655577 64655577 G A SNP SYVN1 NM_172230 human genbank 54_36p -1 reviewed nonsense c.598 p.Q200* 1.000 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors CALN1 83698 genome.wustl.edu 36 7 71126675 71126675 + Missense_Mutation SNP T T C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 7 71126675 71126675 T C SNP CALN1 NM_031468 human genbank 54_36p -1 validated missense c.404 p.D135G 1.000 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,PatternScan_S100_CABP - no_errors ENSG00000179994 0 genome.wustl.edu 36 7 71974924 71974924 + Silent SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 7 71974924 71974924 G T SNP ENSG00000179994 ENST00000355920 human ensembl 54_36p -1 known silent c.271 p.R91 0.086 NULL NULL - no_errors NEK9 91754 genome.wustl.edu 36 14 74624970 74624970 + Missense_Mutation SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 14 74624970 74624970 G T SNP NEK9 NM_033116 human genbank 54_36p -1 validated missense c.2570 p.A857D 0.976 NULL PatternScan_RCC1_1,PatternScan_RCC1_2,PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_RCC1/BLIP-II,HMMPfam_RCC1 - no_errors SLC44A5 204962 genome.wustl.edu 36 1 75457608 75457608 + Silent SNP C C T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 1 75457608 75457608 C T SNP SLC44A5 NM_152697 human genbank 54_36p -1 validated silent c.1188 p.A396 1.000 HMMPfam_DUF580 HMMPfam_DUF580 - no_errors SLC38A10 124565 genome.wustl.edu 36 17 76865510 76865510 + Silent SNP G A A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 17 76865510 76865510 G A SNP SLC38A10 NM_001037984 human genbank 54_36p -1 validated silent c.645 p.Y215 0.998 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors MAGI2 9863 genome.wustl.edu 36 7 77594617 77594617 + Missense_Mutation SNP G G C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 7 77594617 77594617 G C SNP MAGI2 NM_012301 human genbank 54_36p -1 reviewed missense c.3256 p.P1086A 1.000 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1 - no_errors AKAP13 11214 genome.wustl.edu 36 15 84074759 84074759 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 15 84074759 84074759 C T SNP AKAP13 NM_006738 human genbank 54_36p +1 reviewed nonsense c.7111 p.Q2371* 0.994 NULL superfamily_ANK,HMMPfam_RII_binding_1,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_EF_HAND_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH - no_errors PTPN21 11099 genome.wustl.edu 36 14 88037467 88037467 + Splice_Site SNP T T C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 14 88037467 88037467 T C SNP PTPN21 NM_007039 human genbank 54_36p -1 reviewed splice_site c.588-2 e6-2 1.000 - - - no_errors GSC 145258 genome.wustl.edu 36 14 94304596 94304596 + Missense_Mutation SNP C C G novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 14 94304596 94304596 C G SNP GSC NM_173849 human genbank 54_36p -1 reviewed missense c.759 p.L253F 1.000 NULL superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors FAHD2B 151313 genome.wustl.edu 36 2 97115310 97115310 + Missense_Mutation SNP C C A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 2 97115310 97115310 C A SNP FAHD2B NM_199336 human genbank 54_36p -1 provisional missense c.538 p.A180S 0.993 superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase - no_errors SYTL4 94121 genome.wustl.edu 36 X 99817703 99817703 + Missense_Mutation SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c X 99817703 99817703 G T SNP SYTL4 NM_080737 human genbank 54_36p -1 validated missense c.1994 p.A665D 0.998 NULL HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors MTTP 4547 genome.wustl.edu 36 4 100753203 100753203 + Missense_Mutation SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 4 100753203 100753203 G T SNP MTTP NM_000253 human genbank 54_36p +1 reviewed missense c.2100 p.Q700H 1.000 NULL superfamily_Lipid_transp_b-sht_shell,HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_LV_superhelical - no_errors CKAP2L 150468 genome.wustl.edu 36 2 113230720 113230720 + Missense_Mutation SNP A A C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 2 113230720 113230720 A C SNP CKAP2L NM_152515 human genbank 54_36p -1 validated missense c.699 p.N233K 0.000 NULL NULL - no_errors SAMD3 154075 genome.wustl.edu 36 6 130517712 130517712 + Missense_Mutation SNP G G A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 6 130517712 130517712 G A SNP SAMD3 NM_001017373 human genbank 54_36p -1 validated missense c.974 p.P325L 0.995 NULL superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 - no_errors GYPB 2994 genome.wustl.edu 36 4 145141886 145141886 + Missense_Mutation SNP T T G novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 4 145141886 145141886 T G SNP GYPB NM_002100 human genbank 54_36p -1 reviewed missense c.38 p.E13A 0.002 NULL HMMPfam_Glycophorin_A,PatternScan_GLYCOPHORIN_A - no_errors SH3TC2 79628 genome.wustl.edu 36 5 148372352 148372352 + Missense_Mutation SNP C C A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 5 148372352 148372352 C A SNP SH3TC2 NM_024577 human genbank 54_36p -1 reviewed missense c.3192 p.E1064D 0.982 superfamily_TPR-like,HMMSmart_SM00028 superfamily_SH3-domain,HMMPfam_SH3_2,HMMPfam_SH3_1,HMMSmart_SM00326,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1 - no_errors FBXW7 55294 genome.wustl.edu 36 4 153493276 153493276 + Silent SNP A C C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 4 153493276 153493276 A C SNP FBXW7 NM_018315 human genbank 54_36p -1 validated silent c.57 p.V19 1.000 NULL superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors RBM16 22828 genome.wustl.edu 36 6 155195213 155195213 + Silent SNP G G T novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 6 155195213 155195213 G T SNP RBM16 NM_014892 human genbank 54_36p +1 validated silent c.2808 p.G936 0.996 NULL superfamily_ENTH_VHS,HMMSmart_RPR,HMMPfam_DUF618,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors ADAMTS4 9507 genome.wustl.edu 36 1 159432629 159432629 + Missense_Mutation SNP T T A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 1 159432629 159432629 T A SNP ADAMTS4 NM_005099 human genbank 54_36p -1 reviewed missense c.1046 p.E349V 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors LY75 4065 genome.wustl.edu 36 2 160463585 160463585 + Missense_Mutation SNP T T G novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 2 160463585 160463585 T G SNP LY75 NM_002349 human genbank 54_36p -1 validated missense c.326 p.K109T 0.994 superfamily_Ricin B-like lectins,HMMSmart_SM00458 superfamily_Ricin B-like lectins,HMMSmart_SM00458,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors XIRP2 129446 genome.wustl.edu 36 2 167807647 167807647 + Missense_Mutation SNP G A A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 2 167807647 167807647 G A SNP XIRP2 NM_152381 human genbank 54_36p +1 validated missense c.1499 p.R500H 1.000 NULL HMMPfam_Xin - no_errors CACNA1E 777 genome.wustl.edu 36 1 180011867 180011867 + Missense_Mutation SNP A A G novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 1 180011867 180011867 A G SNP CACNA1E NM_000721 human genbank 54_36p +1 reviewed missense c.5147 p.N1716S 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors C1orf74 148304 genome.wustl.edu 36 1 208023254 208023254 + Missense_Mutation SNP C C A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 1 208023254 208023254 C A SNP C1orf74 NM_152485 human genbank 54_36p -1 predicted missense c.349 p.V117F 1.000 NULL PatternScan_TONB_DEPENDENT_REC_1 - no_errors CPS1 1373 genome.wustl.edu 36 2 211149460 211149460 + Splice_Site SNP G G A novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 2 211149460 211149460 G A SNP CPS1 NM_001875 human genbank 54_36p +1 reviewed splice_site c.381+1 e3+1 1.000 - - - no_errors OR2T2 401992 genome.wustl.edu 36 1 246682895 246682895 + Silent SNP A A C novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 1 246682895 246682895 A C SNP OR2T2 NM_001004136 human genbank 54_36p +1 provisional silent c.174 p.T58 0.354 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CDC14A 8556 genome.wustl.edu 36 1 100737085 100737103 + Frame_Shift_Del DEL CTCCCGGCTAGCCAGTTCT CTCCCGGCTAGCCAGTTCT - novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 CTCCCGGCTAGCCAGTTCT CTCCCGGCTAGCCAGTTCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 1 100737085 100737103 CTCCCGGCTAGCCAGTTCT - DEL CDC14A NM_033312 human genbank 54_36p +1 reviewed frame_shift_del c.1434_1452 p.S479fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMSmart_SM00404,HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1 (deletion:cds_exon[100737073,100737523]) no_errors PTPN22 26191 genome.wustl.edu 36 1 114182382 114182382 + Frame_Shift_Del DEL T T - novel unknown TCGA-61-1903-01A-01W-0639-09 TCGA-61-1903-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a67ce4fe-9da2-4eef-aa08-928658c25570 eaab9831-3f75-4083-9772-eba8674fd54c 1 114182382 114182382 T - DEL PTPN22 NM_015967 human genbank 54_36p -1 reviewed frame_shift_del c.1163 p.D388fs 0.124 NULL superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1 (deletion:cds_exon[114181735,114182552]) no_errors