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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ADAMTS16 0 genome.wustl.edu 37 5 5318312 5318312 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 5 5318312 5318312 G A SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known silent c.3477 p.P1159 0.106 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 72 0 0.00 91 21 18.75 - - - BCL6 0 genome.wustl.edu 37 3 187451419 187451419 + Missense_Mutation SNP G G C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 187451419 187451419 G C SNP BCL6 ENST00000232014 human ensembl 69_37n -1 known missense c.63 p.N21K 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 192 0 0.00 201 31 13.36 - - - BRS3 0 genome.wustl.edu 37 X 135574435 135574435 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c X 135574435 135574435 G A SNP BRS3 ENST00000370648 human ensembl 69_37n +1 known silent c.1101 p.V367 0.036 prints_Bombesin_rcpt_3 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC ENSG00000102239 162 0 0.00 130 24 15.58 - - - C9orf142 0 genome.wustl.edu 37 9 139888077 139888077 + Missense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 9 139888077 139888077 G A SNP C9orf142 ENST00000371620 human ensembl 69_37n +1 known missense c.536 p.R179Q 0.998 NULL NULL - no_errors C9orf142 HGNC ENSG00000148362 143 0 0.00 115 32 21.77 - - - C9orf69 0 genome.wustl.edu 37 9 139008534 139008534 + Missense_Mutation SNP A A T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 9 139008534 139008534 A T SNP C9orf69 ENST00000561457 human ensembl 69_37n -1 known missense c.287 p.V96E 0.996 NULL NULL - no_errors C9orf69 HGNC ENSG00000238227 44 0 0.00 32 17 32.69 - - - CARKD 0 genome.wustl.edu 37 13 111274599 111274599 + Missense_Mutation SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 13 111274599 111274599 C T SNP CARKD ENST00000309957 human ensembl 69_37n +1 known missense c.137 p.S46L 0.020 NULL pfam_UPF_carb_kinase-rel,tigrfam_UPF_carb_kinase-rel - no_errors CARKD HGNC ENSG00000213995 409 0 0.00 320 91 22.14 - - - CCDC141 0 genome.wustl.edu 37 2 179730515 179730515 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 2 179730515 179730515 G A SNP CCDC141 ENST00000420890 human ensembl 69_37n -1 known silent c.2703 p.A901 0.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 309 0 0.00 324 62 16.06 - - - CCDC67 0 genome.wustl.edu 37 11 93097377 93097377 + Nonsense_Mutation SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 11 93097377 93097377 C T SNP CCDC67 ENST00000298050 human ensembl 69_37n +1 known nonsense c.349 p.Q117* 1.000 superfamily_MHC_II-assoc_invariant_trimer superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 264 0 0.00 128 66 34.02 - - - CDH20 0 genome.wustl.edu 37 18 59167643 59167643 + Missense_Mutation SNP C C A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 18 59167643 59167643 C A SNP CDH20 ENST00000262717 human ensembl 69_37n +1 known missense c.569 p.T190K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 341 0 0.00 344 72 17.27 - - - CHPF 0 genome.wustl.edu 37 2 220405780 220405780 + Missense_Mutation SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 2 220405780 220405780 C T SNP CHPF ENST00000243776 human ensembl 69_37n -1 known missense c.956 p.R319Q 0.873 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 126 0 0.00 115 25 17.86 - - - DENND1C 0 genome.wustl.edu 37 19 6480063 6480063 + Splice_Site SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 19 6480063 6480063 C T SNP DENND1C ENST00000381480 human ensembl 69_37n -1 known splice_site c.18-1 e2-1 0.919 - - - no_errors DENND1C HGNC ENSG00000205744 128 1 0.78 127 36 22.09 - - - DHX30 0 genome.wustl.edu 37 3 47891404 47891404 + Missense_Mutation SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 47891404 47891404 C T SNP DHX30 ENST00000445061 human ensembl 69_37n +1 known missense c.3379 p.R1127W 0.999 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 35 0 0.00 42 5 10.64 - - - DNAJB4 0 genome.wustl.edu 37 1 78481910 78481910 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 1 78481910 78481910 G A SNP DNAJB4 ENST00000370763 human ensembl 69_37n +1 known silent c.993 p.R331 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB4 HGNC ENSG00000162616 308 1 0.32 230 36 13.53 - - - DYNC1H1 0 genome.wustl.edu 37 14 102452485 102452486 + Frame_Shift_Ins INS - - C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 14 102452485 102452486 - C INS DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known frame_shift_ins c.1923_1924 p.V643fs 1.000:1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 46 0 0.00 71 10 12.35 - - - FES 0 genome.wustl.edu 37 15 91436887 91436887 + Missense_Mutation SNP C C A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 15 91436887 91436887 C A SNP FES ENST00000328850 human ensembl 69_37n +1 known missense c.2049 p.D683E 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FES HGNC ENSG00000182511 45 0 0.00 33 12 26.67 - - - FGF4 0 genome.wustl.edu 37 11 69588113 69588113 + Silent SNP G G T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 11 69588113 69588113 G T SNP FGF4 ENST00000168712 human ensembl 69_37n -1 known silent c.585 p.P195 0.999 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF4 HGNC ENSG00000075388 334 0 0.00 279 73 20.68 - - - FMO1 0 genome.wustl.edu 37 1 171251383 171251383 + Missense_Mutation SNP C C A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 1 171251383 171251383 C A SNP FMO1 ENST00000354841 human ensembl 69_37n +1 known missense c.1094 p.T365N 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 191 0 0.00 270 51 15.84 - - - GABARAP 0 genome.wustl.edu 37 17 7145570 7145570 + Missense_Mutation SNP T T C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 17 7145570 7145570 T C SNP GABARAP ENST00000302386 human ensembl 69_37n -1 known missense c.80 p.D27G 1.000 pfam_Atg8_ubiquitin-like pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors GABARAP HGNC ENSG00000170296 83 0 0.00 63 17 20.48 - - - GDF6 0 genome.wustl.edu 37 8 97157010 97157010 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 8 97157010 97157010 G A SNP GDF6 ENST00000287020 human ensembl 69_37n -1 known silent c.1149 p.C383 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 175 0 0.00 223 56 20.00 - - - HERC1 0 genome.wustl.edu 37 15 63970199 63970199 + Silent SNP G G C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 15 63970199 63970199 G C SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known silent c.6915 p.P2305 0.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 402 0 0.00 413 92 18.11 - - - HOXB2 0 genome.wustl.edu 37 17 46620904 46620904 + Missense_Mutation SNP C C A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 17 46620904 46620904 C A SNP HOXB2 ENST00000330070 human ensembl 69_37n -1 known missense c.597 p.K199N 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HOXB2 HGNC ENSG00000173917 8 0 0.00 10 4 28.57 - - - IFT81 0 genome.wustl.edu 37 12 110566885 110566885 + Missense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 12 110566885 110566885 G A SNP IFT81 ENST00000242591 human ensembl 69_37n +1 known missense c.379 p.V127I 0.998 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 195 0 0.00 177 94 34.69 - - - IGLC7 0 genome.wustl.edu 37 22 23264956 23264956 + Missense_Mutation SNP C C A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 22 23264956 23264956 C A SNP IGLC7 ENST00000390331 human ensembl 69_37n +1 known missense c.191 p.T64K 0.973 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGLC7 HGNC ENSG00000211685 217 0 0.00 148 41 21.69 - - - IRAK4 0 genome.wustl.edu 37 12 44180307 44180307 + Missense_Mutation SNP G G T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 12 44180307 44180307 G T SNP IRAK4 ENST00000448290 human ensembl 69_37n +1 known missense c.1294 p.V432F 0.892 pirsf_Interleukin-1_rcpt-assoc_kin4,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Interleukin-1_rcpt-assoc_kin4,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK4 HGNC ENSG00000198001 75 0 0.00 78 19 19.59 - - - KBTBD8 0 genome.wustl.edu 37 3 67054333 67054333 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 67054333 67054333 G A SNP KBTBD8 ENST00000417314 human ensembl 69_37n +1 known silent c.942 p.V314 0.999 pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 133 0 0.00 168 32 16.00 - - - KCNK4 0 genome.wustl.edu 37 11 64067025 64067026 + Frame_Shift_Ins INS - - T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 11 64067025 64067026 - T INS KCNK4 ENST00000394525 human ensembl 69_37n +1 known frame_shift_ins c.1009_1010 p.D338fs 0.987:1.000 prints_2pore_dom_K_chnl_TRAAK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK4 HGNC ENSG00000182450 9 0 0.00 2 2 50.00 - - - KIAA1199 0 genome.wustl.edu 37 15 81176528 81176528 + Silent SNP T T C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 15 81176528 81176528 T C SNP KIAA1199 ENST00000220244 human ensembl 69_37n +1 known silent c.630 p.Y210 0.125 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 239 0 0.00 218 68 23.78 - - - KIAA1257 0 genome.wustl.edu 37 3 128707653 128707653 + Missense_Mutation SNP A A G TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 128707653 128707653 A G SNP KIAA1257 ENST00000265068 human ensembl 69_37n -1 known missense c.371 p.L124P 1.000 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 469 0 0.00 484 90 15.65 - - - MAP3K1 0 genome.wustl.edu 37 5 56160565 56160565 + Missense_Mutation SNP A A C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 5 56160565 56160565 A C SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.839 p.Q280P 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 117 0 0.00 110 19 14.73 - - - MAP3K1 0 genome.wustl.edu 37 5 56177598 56177598 + Frame_Shift_Del DEL G G - TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 5 56177598 56177598 G - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.2571 p.A858fs 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 216 0 0.00 179 45 20.09 - - - MKNK2 0 genome.wustl.edu 37 19 2041144 2041144 + Silent SNP G G T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 19 2041144 2041144 G T SNP MKNK2 ENST00000250896 human ensembl 69_37n -1 known silent c.1005 p.A335 0.993 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MKNK2 HGNC ENSG00000099875 164 0 0.00 221 57 20.50 - - - MYB 0 genome.wustl.edu 37 6 135511399 135511399 + Nonsense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 6 135511399 135511399 G A SNP MYB ENST00000341911 human ensembl 69_37n +1 known nonsense c.441 p.W147* 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 287 0 0.00 234 66 22.00 - - - MYBPC2 0 genome.wustl.edu 37 19 50939058 50939058 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 19 50939058 50939058 G A SNP MYBPC2 ENST00000357701 human ensembl 69_37n +1 known silent c.135 p.P45 0.117 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 118 0 0.00 78 20 20.41 - - - MYBPC2 0 genome.wustl.edu 37 19 50964798 50964798 + Splice_Site SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 19 50964798 50964798 G A SNP MYBPC2 ENST00000357701 human ensembl 69_37n +1 known splice_site c.2932-1 e25-1 1.000 - - - no_errors MYBPC2 HGNC ENSG00000086967 114 0 0.00 114 66 36.67 - - - MYH13 0 genome.wustl.edu 37 17 10213133 10213133 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 17 10213133 10213133 G A SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known silent c.4671 p.H1557 0.622 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 118 1 0.84 101 17 14.29 - - - NALCN 0 genome.wustl.edu 37 13 101756927 101756927 + Missense_Mutation SNP A A T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 13 101756927 101756927 A T SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.2711 p.M904K 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 265 0 0.00 286 73 20.28 - - - PCNXL3 0 genome.wustl.edu 37 11 65396838 65396838 + Missense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 11 65396838 65396838 G A SNP PCNXL3 ENST00000355703 human ensembl 69_37n +1 known missense c.3952 p.V1318M 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 159 0 0.00 118 71 37.57 - - - PDHA2 0 genome.wustl.edu 37 4 96761984 96761984 + Missense_Mutation SNP G G T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 4 96761984 96761984 G T SNP PDHA2 ENST00000295266 human ensembl 69_37n +1 known missense c.683 p.G228V 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 352 0 0.00 322 50 13.44 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 273 0 0.00 141 145 50.70 - - - PLEKHG1 0 genome.wustl.edu 37 6 151055039 151055039 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 6 151055039 151055039 G A SNP PLEKHG1 ENST00000358517 human ensembl 69_37n +1 known silent c.222 p.T74 0.011 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 76 0 0.00 64 19 22.89 - - - POLR2J4 0 genome.wustl.edu 37 7 44009429 44009429 + RNA DEL A A - TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 7 44009429 44009429 A - DEL POLR2J4 ENST00000427076 human ensembl 69_37n -1 known rna NULL NULL 0.991 - - - no_errors POLR2J4 HGNC ENSG00000214783 8 0 0.00 3 2 33.33 - - - POLR3B 0 genome.wustl.edu 37 12 106824180 106824180 + Missense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 12 106824180 106824180 G A SNP POLR3B ENST00000228347 human ensembl 69_37n +1 known missense c.1393 p.V465M 1.000 pfam_RNA_pol_Rpb2_3 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 172 0 0.00 197 38 16.17 - - - PRNT 0 genome.wustl.edu 37 20 4713295 4713296 + Frame_Shift_Ins INS - - A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 20 4713295 4713296 - A INS PRNT ENST00000326539 human ensembl 69_37n -1 known frame_shift_ins c.28_27 p.A9fs 0.000:0.002 NULL NULL - no_errors PRNT HGNC ENSG00000180259 387 0 0.00 405 81 16.67 - - - RARS2 0 genome.wustl.edu 37 6 88279250 88279250 + Missense_Mutation SNP G G T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 6 88279250 88279250 G T SNP RARS2 ENST00000369536 human ensembl 69_37n -1 known missense c.95 p.P32Q 0.996 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-synth_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia - no_errors RARS2 HGNC ENSG00000146282 478 0 0.00 354 71 16.71 - - - RNF103 0 genome.wustl.edu 37 2 86832076 86832076 + Silent SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 2 86832076 86832076 C T SNP RNF103 ENST00000237455 human ensembl 69_37n -1 known silent c.948 p.L316 1.000 superfamily_Thioredoxin-like_fold pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 335 0 0.00 251 44 14.86 - - - ROBO2 0 genome.wustl.edu 37 3 77623847 77623847 + Missense_Mutation SNP T T G TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 77623847 77623847 T G SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.2169 p.D723E 0.996 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 91 0 0.00 63 27 30.00 - - - RRP1 0 genome.wustl.edu 37 21 45217847 45217847 + Missense_Mutation SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 21 45217847 45217847 C T SNP RRP1 ENST00000497547 human ensembl 69_37n +1 known missense c.677 p.P226L 0.990 NULL pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 150 0 0.00 97 55 35.95 - - - SBF2 0 genome.wustl.edu 37 11 9989966 9989966 + Missense_Mutation SNP T T A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 11 9989966 9989966 T A SNP SBF2 ENST00000256190 human ensembl 69_37n -1 known missense c.1522 p.N508Y 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 281 0 0.00 261 48 15.53 - - - SLC16A12 0 genome.wustl.edu 37 10 91198855 91198855 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 10 91198855 91198855 G A SNP SLC16A12 ENST00000371790 human ensembl 69_37n -1 known silent c.534 p.I178 0.937 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 74 0 0.00 61 11 15.28 - - - SLC5A9 0 genome.wustl.edu 37 1 48703432 48703432 + Missense_Mutation SNP C C A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 1 48703432 48703432 C A SNP SLC5A9 ENST00000236495 human ensembl 69_37n +1 known missense c.1449 p.D483E 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 228 0 0.00 244 60 19.74 - - - SRGAP3 0 genome.wustl.edu 37 3 9027246 9027246 + Missense_Mutation SNP T T C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 9027246 9027246 T C SNP SRGAP3 ENST00000383836 human ensembl 69_37n -1 known missense c.3257 p.K1086R 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 20 0 0.00 30 7 18.92 - - - TAF3 0 genome.wustl.edu 37 10 8006835 8006835 + Silent SNP C C G TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 10 8006835 8006835 C G SNP TAF3 ENST00000344293 human ensembl 69_37n +1 known silent c.1362 p.S454 0.065 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 101 0 0.00 68 31 31.00 - - - TAOK3 0 genome.wustl.edu 37 12 118590144 118590144 + Missense_Mutation SNP A A G TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 12 118590144 118590144 A G SNP TAOK3 ENST00000392533 human ensembl 69_37n -1 known missense c.2423 p.L808P 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC ENSG00000135090 174 0 0.00 191 54 22.04 - - - TBL1XR1 0 genome.wustl.edu 37 3 176744190 176744190 + Nonsense_Mutation SNP T T A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 176744190 176744190 T A SNP TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known nonsense c.1489 p.K497* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL1XR1 HGNC ENSG00000177565 535 0 0.00 583 106 15.34 - - - TBL1XR1 0 genome.wustl.edu 37 3 176771659 176771659 + Nonsense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 3 176771659 176771659 G A SNP TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known nonsense c.106 p.Q36* 1.000 smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL1XR1 HGNC ENSG00000177565 381 0 0.00 382 84 18.03 - - - TLN2 0 genome.wustl.edu 37 15 63102180 63102180 + Silent SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 15 63102180 63102180 C T SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known silent c.6720 p.F2240 0.567 NULL pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 215 0 0.00 250 39 13.36 - - - USP6 0 genome.wustl.edu 37 17 5072218 5072218 + Missense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 17 5072218 5072218 G A SNP USP6 ENST00000250066 human ensembl 69_37n +1 known missense c.3385 p.E1129K 0.949 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 223 0 0.00 185 47 20.26 - - - ZFHX3 0 genome.wustl.edu 37 16 72830186 72830186 + Missense_Mutation SNP T T C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 16 72830186 72830186 T C SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.6395 p.Y2132C 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 61 0 0.00 25 12 32.43 - - - ZFYVE27 0 genome.wustl.edu 37 10 99502856 99502856 + Frame_Shift_Del DEL A A - TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d45bb60a-e73b-4b95-8637-e8d17fcca745 9b5d1a2f-ccca-45de-b995-85754015b39c 10 99502856 99502856 A - DEL ZFYVE27 ENST00000356257 human ensembl 69_37n +1 known frame_shift_del c.203 p.Q68fs 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 430 0 0.00 461 88 15.83 - - -