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 ABCA9 0 genome.wustl.edu 37 17 66982354 66982354 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 17 66982354 66982354 C T SNP ABCA9 ENST00000340001 human ensembl 69_37n -1 known missense c.4159 p.A1387T 0.503 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 253 0 0.00 266 72 21.18 - - - ACTN3 0 genome.wustl.edu 37 11 66318787 66318787 + Silent SNP T T C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 11 66318787 66318787 T C SNP ACTN3 ENST00000502692 human ensembl 69_37n +1 known silent c.354 p.N118 0.971 NULL NULL - pseudogene ACTN3 HGNC ENSG00000248746 33 0 0.00 42 5 10.64 - - - AHNAK2 0 genome.wustl.edu 37 14 105415953 105415953 + Silent SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 14 105415953 105415953 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.5835 p.P1945 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 53 0 0.00 38 13 25.49 - - - BTK 0 genome.wustl.edu 37 X 100613405 100613405 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 X 100613405 100613405 C T SNP BTK ENST00000308731 human ensembl 69_37n -1 known missense c.995 p.R332H 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 192 0 0.00 254 31 10.88 - - - CCDC27 0 genome.wustl.edu 37 1 3688024 3688025 + Frame_Shift_Ins INS - - C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 1 3688024 3688025 - C INS CCDC27 ENST00000294600 human ensembl 69_37n +1 known frame_shift_ins c.1908_1909 p.L638fs 0.063:0.211 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 38 0 0.00 32 4 11.11 - - - CHD2 0 genome.wustl.edu 37 15 93545466 93545466 + Silent SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 15 93545466 93545466 G A SNP CHD2 ENST00000557381 human ensembl 69_37n +1 putative silent c.4197 p.E1399 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 429 1 0.23 350 145 29.23 - - - CNTNAP1 0 genome.wustl.edu 37 17 40847561 40847561 + Silent SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 17 40847561 40847561 G A SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known silent c.3015 p.P1005 0.019 superfamily_ConA-like_lec_gl pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 84 0 0.00 85 13 13.27 - - - DAB2IP 0 genome.wustl.edu 37 9 124521225 124521225 + Missense_Mutation SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 9 124521225 124521225 G A SNP DAB2IP ENST00000408936 human ensembl 69_37n +1 known missense c.565 p.E189K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 11 0 0.00 16 7 30.43 - - - DENND1B 0 genome.wustl.edu 37 1 197611863 197611863 + Missense_Mutation SNP A A C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 1 197611863 197611863 A C SNP DENND1B ENST00000367396 human ensembl 69_37n -1 known missense c.650 p.I217S 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 66 0 0.00 46 17 26.98 - - - DNAH11 0 genome.wustl.edu 37 7 21744132 21744132 + Silent SNP T T C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 7 21744132 21744132 T C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known silent c.6375 p.G2125 0.995 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 101 0 0.00 73 40 35.09 - - - DOCK8 0 genome.wustl.edu 37 9 429793 429793 + Frame_Shift_Del DEL C C - TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 9 429793 429793 C - DEL DOCK8 ENST00000453981 human ensembl 69_37n +1 known frame_shift_del c.4565 p.R1523fs 1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 50 0 0.00 10 2 16.67 - - - ETV4 0 genome.wustl.edu 37 17 41610700 41610701 + Frame_Shift_Ins INS - - G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 17 41610700 41610701 - G INS ETV4 ENST00000319349 human ensembl 69_37n -1 known frame_shift_ins c.400_399 p.R133fs 1.000:1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV4 HGNC ENSG00000175832 26 0 0.00 38 5 11.63 - - - F13A1 0 genome.wustl.edu 37 6 6206822 6206822 + Silent SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 6 6206822 6206822 G A SNP F13A1 ENST00000445223 human ensembl 69_37n -1 putative silent c.276 p.F92 0.008 smart_Transglutaminase-like pfam_Transglutaminase-like,smart_Transglutaminase-like - pseudogene:no_stop_codon:bad_bp_length_for_coding_region F13A1 HGNC ENSG00000124491 20 0 0.00 13 6 31.58 - - - FRMPD1 0 genome.wustl.edu 37 9 37746347 37746348 + Frame_Shift_Ins INS - - G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 9 37746347 37746348 - G INS FRMPD1 ENST00000377765 human ensembl 69_37n +1 known frame_shift_ins c.4318_4319 p.V1442fs 0.994:1.000 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 22 0 0.00 16 2 11.11 - - - GJA10 0 genome.wustl.edu 37 6 90604250 90604250 + Silent SNP G G T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 6 90604250 90604250 G T SNP GJA10 ENST00000369352 human ensembl 69_37n +1 known silent c.63 p.V21 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 347 0 0.00 274 66 19.41 - - - GPR98 0 genome.wustl.edu 37 5 90050985 90050985 + Missense_Mutation SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 5 90050985 90050985 G A SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.11563 p.E3855K 0.009 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 184 0 0.00 117 24 17.02 - - - HERC2 0 genome.wustl.edu 37 15 28421694 28421694 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 15 28421694 28421694 C T SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.9566 p.G3189E 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 278 0 0.00 269 43 13.69 - - - HERC2 0 genome.wustl.edu 37 15 28518115 28518115 + Missense_Mutation SNP C C A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 15 28518115 28518115 C A SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.836 p.G279V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 32 0 0.00 19 30 61.22 - - - HPS5 0 genome.wustl.edu 37 11 18339303 18339303 + Missense_Mutation SNP G G C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 11 18339303 18339303 G C SNP HPS5 ENST00000349215 human ensembl 69_37n -1 known missense c.103 p.L35V 1.000 superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 24 0 0.00 45 35 43.75 - - - HTR1F 0 genome.wustl.edu 37 3 88039975 88039975 + Missense_Mutation SNP G G C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 3 88039975 88039975 G C SNP HTR1F ENST00000319595 human ensembl 69_37n +1 known missense c.76 p.V26L 0.970 prints_5HT1F_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1F_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1F HGNC ENSG00000179097 287 0 0.00 119 47 28.31 - - - IGHV2-26 0 genome.wustl.edu 37 14 106757840 106757840 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 14 106757840 106757840 C T SNP IGHV2-26 ENST00000390611 human ensembl 69_37n -1 known missense c.167 p.S56N 0.001 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV2-26 HGNC ENSG00000211951 92 0 0.00 106 21 16.54 - - - KCNJ12 0 genome.wustl.edu 37 17 21318698 21318698 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 17 21318698 21318698 C T SNP KCNJ12 ENST00000331718 human ensembl 69_37n +1 known missense c.44 p.S15L 0.996 pfam_K_chnl_inward-rec_Kir_N pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 8 0 0.00 8 4 33.33 - - - KIAA1377 0 genome.wustl.edu 37 11 101829065 101829065 + Missense_Mutation SNP C C A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 11 101829065 101829065 C A SNP KIAA1377 ENST00000263468 human ensembl 69_37n +1 known missense c.673 p.L225I 0.998 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 687 0 0.00 430 110 20.37 - - - KRT35 0 genome.wustl.edu 37 17 39637093 39637093 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 17 39637093 39637093 C T SNP KRT35 ENST00000393989 human ensembl 69_37n -1 known missense c.257 p.G86D 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 49 0 0.00 29 10 25.64 - - - KRTAP10-8 0 genome.wustl.edu 37 21 46032028 46032028 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 21 46032028 46032028 C T SNP KRTAP10-8 ENST00000334662 human ensembl 69_37n +1 known missense c.11 p.A4V 0.844 NULL pfam_PMG - no_errors KRTAP10-8 HGNC ENSG00000187766 183 0 0.00 155 53 25.36 - - - LRP4 0 genome.wustl.edu 37 11 46880600 46880600 + Silent SNP T T C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 11 46880600 46880600 T C SNP LRP4 ENST00000378623 human ensembl 69_37n -1 known silent c.5652 p.R1884 0.999 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 38 0 0.00 25 10 28.57 - - - METAP2 0 genome.wustl.edu 37 12 95888899 95888899 + Nonsense_Mutation SNP G G T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 12 95888899 95888899 G T SNP METAP2 ENST00000323666 human ensembl 69_37n +1 known nonsense c.757 p.G253* 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC ENSG00000111142 227 0 0.00 98 132 57.39 - - - METAP2 0 genome.wustl.edu 37 12 95888900 95888900 + Missense_Mutation SNP G G T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 12 95888900 95888900 G T SNP METAP2 ENST00000323666 human ensembl 69_37n +1 known missense c.758 p.G253V 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC ENSG00000111142 224 2 0.88 95 132 58.15 - - - MYH4 0 genome.wustl.edu 37 17 10366448 10366448 + Missense_Mutation SNP A A G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 17 10366448 10366448 A G SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known missense c.863 p.I288T 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 196 0 0.00 96 41 29.93 - - - NIN 0 genome.wustl.edu 37 14 51288724 51288724 + Missense_Mutation SNP A A C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 14 51288724 51288724 A C SNP NIN ENST00000245441 human ensembl 69_37n -1 known missense c.51 p.F17L 1.000 pfscan_EF_HAND_2 superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 185 0 0.00 124 36 22.50 - - - OCIAD1 0 genome.wustl.edu 37 4 48835499 48835499 + Splice_Site SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 4 48835499 48835499 G A SNP OCIAD1 ENST00000264312 human ensembl 69_37n +1 known splice_site c.139+1 e2+1 1.000 - - - no_errors OCIAD1 HGNC ENSG00000109180 52 0 0.00 37 10 21.28 - - - ODZ4 0 genome.wustl.edu 37 11 78412585 78412585 + Nonsense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 11 78412585 78412585 C T SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known nonsense c.5073 p.W1691* 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 77 0 0.00 38 6 13.64 - - - PCDH15 0 genome.wustl.edu 37 10 55582296 55582296 + Silent SNP A A G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 10 55582296 55582296 A G SNP PCDH15 ENST00000320301 human ensembl 69_37n -1 known silent c.5190 p.I1730 0.009 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 164 0 0.00 107 39 26.71 - - - PCDHGA12 0 genome.wustl.edu 37 5 140811927 140811927 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 5 140811927 140811927 C T SNP PCDHGA12 ENST00000252085 human ensembl 69_37n +1 known missense c.1601 p.A534V 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 74 0 0.00 69 32 31.68 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 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 159 0 0.00 46 393 89.52 - - - POM121 0 genome.wustl.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 7 72413723 72413724 - CTC INS POM121 ENST00000434423 human ensembl 69_37n +1 known in_frame_ins c.3191_3192 p.1065in_frame_insS 0.980:0.870 NULL NULL - no_errors POM121 HGNC ENSG00000196313 10 0 0.00 5 3 37.50 - - - PTGFR 0 genome.wustl.edu 37 1 78958991 78958991 + Missense_Mutation SNP A A C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 1 78958991 78958991 A C SNP PTGFR ENST00000370757 human ensembl 69_37n +1 known missense c.563 p.Y188S 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_PglndnF_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors PTGFR HGNC ENSG00000122420 182 0 0.00 106 26 19.70 - - - RFC1 0 genome.wustl.edu 37 4 39314522 39314522 + Missense_Mutation SNP T T C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 4 39314522 39314522 T C SNP RFC1 ENST00000381897 human ensembl 69_37n -1 known missense c.1233 p.I411M 0.105 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 584 0 0.00 259 270 50.85 - - - RHEB 0 genome.wustl.edu 37 7 151188068 151188068 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 7 151188068 151188068 C T SNP RHEB ENST00000262187 human ensembl 69_37n -1 known missense c.85 p.G29S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHEB HGNC ENSG00000106615 176 0 0.00 81 21 20.59 - - - SGK196 0 genome.wustl.edu 37 8 42977743 42977743 + Missense_Mutation SNP T T C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 8 42977743 42977743 T C SNP SGK196 ENST00000331373 human ensembl 69_37n +1 known missense c.776 p.L259P 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK196 Clone_based_vega_gene ENSG00000185900 74 0 0.00 99 21 17.50 - - - SLC12A1 0 genome.wustl.edu 37 15 48580714 48580714 + Splice_Site SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 15 48580714 48580714 G A SNP SLC12A1 ENST00000380993 human ensembl 69_37n +1 known splice_site c.2873+1 e22+1 1.000 - - - no_errors SLC12A1 HGNC ENSG00000074803 12 0 0.00 22 8 26.67 - - - SLC35F1 0 genome.wustl.edu 37 6 118556692 118556692 + Missense_Mutation SNP A A C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 6 118556692 118556692 A C SNP SLC35F1 ENST00000360388 human ensembl 69_37n +1 known missense c.370 p.I124L 1.000 pfam_DUF914_euk,pfam_DMT pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 257 1 0.39 229 37 13.91 - - - SPRTN 0 genome.wustl.edu 37 1 231488908 231488908 + Missense_Mutation SNP A A G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 1 231488908 231488908 A G SNP SPRTN ENST00000295050 human ensembl 69_37n +1 known missense c.1271 p.K424R 0.639 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 141 0 0.00 153 23 13.07 - - - SPTB 0 genome.wustl.edu 37 14 65216860 65216862 + In_Frame_Del DEL GTT GTT - TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 14 65216860 65216862 GTT - DEL SPTB ENST00000389722 human ensembl 69_37n -1 known in_frame_del c.6615_6613 p.N2205in_frame_del 0.994:1.000:1.000 pirsf_Spectrin_bsu,pfam_Pleckstrin_homology,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 27 0 0.00 12 5 29.41 - - - SSH3 0 genome.wustl.edu 37 11 67077326 67077326 + Silent SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 11 67077326 67077326 C T SNP SSH3 ENST00000308127 human ensembl 69_37n +1 known silent c.1296 p.Y432 0.797 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 15 0 0.00 17 4 19.05 - - - TBX18 0 genome.wustl.edu 37 6 85448248 85448248 + Missense_Mutation SNP T T G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 6 85448248 85448248 T G SNP TBX18 ENST00000369663 human ensembl 69_37n -1 known missense c.1066 p.T356P 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 354 0 0.00 244 56 18.67 - - - TEX11 0 genome.wustl.edu 37 X 69773227 69773227 + Silent SNP A A G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 X 69773227 69773227 A G SNP TEX11 ENST00000344304 human ensembl 69_37n -1 known silent c.2373 p.I791 0.003 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 101 1 0.98 107 18 14.40 - - - TNFSF13 0 genome.wustl.edu 37 17 7462459 7462460 + Frame_Shift_Ins INS - - G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 17 7462459 7462460 - G INS TNFSF13 ENST00000338784 human ensembl 69_37n +1 known frame_shift_ins c.103_104 p.A37fs 1.000:1.000 NULL pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF - no_errors TNFSF13 HGNC ENSG00000161955 15 0 0.00 25 4 13.79 - - - TP53 0 genome.wustl.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 17 7578222 7578223 TC - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.627_626 p.R209fs 0.000:0.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 72 0 0.00 42 54 55.67 - - - TPR 0 genome.wustl.edu 37 1 186315302 186315302 + Missense_Mutation SNP C C G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 1 186315302 186315302 C G SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.3061 p.D1021H 1.000 superfamily_Prefoldin pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 171 0 0.00 192 27 12.33 - - - TSPO2 0 genome.wustl.edu 37 6 41011722 41011722 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 6 41011722 41011722 C T SNP TSPO2 ENST00000373161 human ensembl 69_37n +1 known missense c.359 p.T120I 0.007 pfam_TspO_MBR,pirsf_TspO_MBR pfam_TspO_MBR,pirsf_TspO_MBR - no_errors TSPO2 HGNC ENSG00000112212 46 0 0.00 10 14 58.33 - - - TTN 0 genome.wustl.edu 37 2 179408032 179408032 + Nonsense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 2 179408032 179408032 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known nonsense c.88964 p.W29655* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 239 0 0.00 216 53 19.70 - - - TTN 0 genome.wustl.edu 37 2 179442793 179442793 + Nonsense_Mutation SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 2 179442793 179442793 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known nonsense c.60745 p.R20249* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 137 0 0.00 100 33 24.81 - - - TXLNB 0 genome.wustl.edu 37 6 139563701 139563701 + Missense_Mutation SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 6 139563701 139563701 G A SNP TXLNB ENST00000358430 human ensembl 69_37n -1 known missense c.2017 p.R673C 0.016 NULL pfam_Taxilin - no_errors TXLNB HGNC ENSG00000164440 48 0 0.00 21 8 27.59 - - - U2SURP 0 genome.wustl.edu 37 3 142738838 142738838 + Frame_Shift_Del DEL A A - TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 3 142738838 142738838 A - DEL U2SURP ENST00000319822 human ensembl 69_37n +1 known frame_shift_del c.598 p.S202fs 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 22 0 0.00 12 2 14.29 - - - UMODL1 0 genome.wustl.edu 37 21 43508466 43508466 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 21 43508466 43508466 C T SNP UMODL1 ENST00000400421 human ensembl 69_37n +1 known missense c.173 p.T58M 0.139 NULL pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UMODL1 HGNC ENSG00000177398 17 0 0.00 10 4 25.00 - - - UPF2 0 genome.wustl.edu 37 10 12071392 12071392 + Nonsense_Mutation SNP G G C TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 10 12071392 12071392 G C SNP UPF2 ENST00000356352 human ensembl 69_37n -1 known nonsense c.497 p.S166* 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 239 1 0.42 249 62 19.94 - - - UPP1 0 genome.wustl.edu 37 7 48147911 48147911 + Missense_Mutation SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 7 48147911 48147911 G A SNP UPP1 ENST00000331803 human ensembl 69_37n +1 known missense c.890 p.R297Q 0.938 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP1 HGNC ENSG00000183696 50 0 0.00 63 23 26.74 - - - USO1 0 genome.wustl.edu 37 4 76703933 76703933 + Missense_Mutation SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 4 76703933 76703933 G A SNP USO1 ENST00000538159 human ensembl 69_37n +1 known missense c.783 p.M261I 1.000 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 64 0 0.00 66 76 53.52 - - - ZNF831 0 genome.wustl.edu 37 20 57769143 57769143 + Silent SNP G G A TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 277c2e8a-dd28-4b8f-96d3-ea790a1986b6 115bb522-26a3-418d-90bb-e786e9c87b88 20 57769143 57769143 G A SNP ZNF831 ENST00000371030 human ensembl 69_37n +1 novel silent c.3069 p.G1023 0.011 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 15 0 0.00 17 5 22.73 - - -