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 AKAP8L 0 genome.wustl.edu 37 19 15491335 15491335 + Missense_Mutation SNP T T C TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 19 15491335 15491335 T C SNP AKAP8L ENST00000397410 human ensembl 69_37n -1 known missense c.1625 p.Y542C 1.000 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 42 0 0.00 10 5 33.33 - - - ANKRD19P 0 genome.wustl.edu 37 9 95599230 95599230 + RNA SNP G G A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 9 95599230 95599230 G A SNP ANKRD19P ENST00000464387 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ANKRD19P HGNC ENSG00000187984 40 0 0.00 28 6 17.65 - - - CYP24A1 0 genome.wustl.edu 37 20 52774114 52774114 + Missense_Mutation SNP A A G TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 20 52774114 52774114 A G SNP CYP24A1 ENST00000216862 human ensembl 69_37n -1 known missense c.1247 p.M416T 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 40 0 0.00 44 13 22.81 - - - DNAH2 0 genome.wustl.edu 37 17 7664193 7664193 + Missense_Mutation SNP T T C TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 17 7664193 7664193 T C SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.2921 p.I974T 0.998 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 286 1 0.35 162 108 40.00 - - - DRAXIN 0 genome.wustl.edu 37 1 11766688 11766688 + Nonsense_Mutation SNP C C T TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 1 11766688 11766688 C T SNP DRAXIN ENST00000294485 human ensembl 69_37n +1 known nonsense c.373 p.R125* 0.007 NULL NULL - no_errors DRAXIN HGNC ENSG00000162490 83 0 0.00 64 15 18.99 - - - FAM155A 0 genome.wustl.edu 37 13 108518337 108518338 + Frame_Shift_Ins INS - - C TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 13 108518337 108518338 - C INS FAM155A ENST00000375915 human ensembl 69_37n -1 known frame_shift_ins c.608_607 p.D203fs 0.051:0.252 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 23 0 0.00 17 2 10.53 - - - GNAS 0 genome.wustl.edu 37 20 57470704 57470705 + Frame_Shift_Ins INS - - A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 20 57470704 57470705 - A INS GNAS ENST00000354359 human ensembl 69_37n +1 known frame_shift_ins c.177_178 p.M59fs 0.994:1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 195 0 0.00 166 42 20.19 - - - GOLGA3 0 genome.wustl.edu 37 12 133384597 133384599 + In_Frame_Del DEL TCC TCC - TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 12 133384597 133384599 TCC - DEL GOLGA3 ENST00000204726 human ensembl 69_37n -1 known in_frame_del c.1058_1056 p.D353in_frame_del 0.136:0.129:0.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 47 0 0.00 20 7 23.33 - - - HEATR7B2 0 genome.wustl.edu 37 5 41057211 41057211 + Missense_Mutation SNP C C T TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 5 41057211 41057211 C T SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.919 p.A307T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 187 0 0.00 139 38 21.47 - - - HLA-DRB6 0 genome.wustl.edu 37 6 32522570 32522570 + RNA SNP G G A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 6 32522570 32522570 G A SNP HLA-DRB6 ENST00000411500 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 15 0 0.00 8 4 33.33 - - - MED14 0 genome.wustl.edu 37 X 40511087 40511087 + Missense_Mutation SNP G G A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 X 40511087 40511087 G A SNP MED14 ENST00000324817 human ensembl 69_37n -1 known missense c.4336 p.L1446F 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 111 0 0.00 44 22 33.33 - - - MEGF8 0 genome.wustl.edu 37 19 42858174 42858174 + Missense_Mutation SNP A A G TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 19 42858174 42858174 A G SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known missense c.4009 p.T1337A 1.000 superfamily_CUB,pfscan_CUB pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 63 0 0.00 27 18 40.00 - - - NBPF9 0 genome.wustl.edu 37 1 144813815 144813815 + Missense_Mutation SNP A A G TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 1 144813815 144813815 A G SNP NBPF9 ENST00000375552 human ensembl 69_37n +1 known missense c.284 p.Q95R 0.004 NULL pfam_NBPF_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBPF9 HGNC ENSG00000168614 102 1 0.97 124 15 10.71 - - - NR1I3 0 genome.wustl.edu 37 1 161200619 161200619 + Nonsense_Mutation SNP G G A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 1 161200619 161200619 G A SNP NR1I3 ENST00000367979 human ensembl 69_37n -1 known nonsense c.928 p.R310* 0.419 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I3 HGNC ENSG00000143257 214 0 0.00 296 51 14.66 - - - OR8H1 0 genome.wustl.edu 37 11 56058466 56058466 + Missense_Mutation SNP T T A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 11 56058466 56058466 T A SNP OR8H1 ENST00000313022 human ensembl 69_37n -1 known missense c.73 p.M25L 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8H1 HGNC ENSG00000181693 100 0 0.00 78 31 28.44 - - - PCDHA2 0 genome.wustl.edu 37 5 140176837 140176838 + Frame_Shift_Ins INS - - C TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 5 140176837 140176838 - C INS PCDHA2 ENST00000526136 human ensembl 69_37n +1 known frame_shift_ins c.2288_2289 p.K766fs 0.292:0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 54 0 0.00 56 7 11.11 - - - PDCD11 0 genome.wustl.edu 37 10 105172930 105172930 + Missense_Mutation SNP C C T TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 10 105172930 105172930 C T SNP PDCD11 ENST00000369797 human ensembl 69_37n +1 known missense c.1036 p.R346C 1.000 superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 97 0 0.00 74 9 10.84 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 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 92 0 0.00 67 52 43.70 - - - PPIH 0 genome.wustl.edu 37 1 43124990 43124990 + Missense_Mutation SNP A A G TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 1 43124990 43124990 A G SNP PPIH ENST00000372549 human ensembl 69_37n +1 known missense c.145 p.I49V 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom - no_errors PPIH HGNC ENSG00000171960 248 0 0.00 194 23 10.55 - - - PRPF18 0 genome.wustl.edu 37 10 13642249 13642249 + Silent SNP G G A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 10 13642249 13642249 G A SNP PRPF18 ENST00000378572 human ensembl 69_37n +1 known silent c.150 p.Q50 1.000 NULL pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC ENSG00000165630 148 0 0.00 123 68 35.60 - - - RBM3 0 genome.wustl.edu 37 X 48433737 48433737 + RNA SNP A A G TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 X 48433737 48433737 A G SNP RBM3 ENST00000491240 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors RBM3 HGNC ENSG00000102317 81 0 0.00 46 14 23.33 - - - SEC14L5 0 genome.wustl.edu 37 16 5061151 5061152 + Frame_Shift_Ins INS - - C TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 16 5061151 5061152 - C INS SEC14L5 ENST00000251170 human ensembl 69_37n +1 known frame_shift_ins c.1856_1857 p.S622fs 0.002:0.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 42 0 0.00 27 5 15.62 - - - SNAPC3 0 genome.wustl.edu 37 9 15444655 15444655 + Missense_Mutation SNP G G A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 9 15444655 15444655 G A SNP SNAPC3 ENST00000380821 human ensembl 69_37n +1 known missense c.533 p.G178E 1.000 NULL pfam_snRNA-activating_su3 - no_errors SNAPC3 HGNC ENSG00000164975 180 0 0.00 196 35 15.15 - - - SPEG 0 genome.wustl.edu 37 2 220333726 220333726 + Silent SNP C C T TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 2 220333726 220333726 C T SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel silent c.3447 p.A1149 0.837 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 38 0 0.00 18 13 41.94 - - - SSC5D 0 genome.wustl.edu 37 19 56002275 56002276 + Frame_Shift_Ins INS - - GG TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 19 56002275 56002276 - GG INS SSC5D ENST00000389623 human ensembl 69_37n +1 known frame_shift_ins c.723_724 p.A243fs 0.918:1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 11 0 0.00 4 2 33.33 - - - TTN 0 genome.wustl.edu 37 2 179547548 179547548 + Silent SNP C C T TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 2 179547548 179547548 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.29238 p.E9746 0.341 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 248 0 0.00 284 46 13.94 - - - UBA6 0 genome.wustl.edu 37 4 68536192 68536192 + Missense_Mutation SNP G G A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 4 68536192 68536192 G A SNP UBA6 ENST00000322244 human ensembl 69_37n -1 known missense c.665 p.T222M 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 78 0 0.00 52 6 10.34 - - - WDR81 0 genome.wustl.edu 37 17 1628873 1628874 + Frame_Shift_Ins INS - - C TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 17 1628873 1628874 - C INS WDR81 ENST00000409644 human ensembl 69_37n +1 known frame_shift_ins c.620_621 p.R210fs 0.025:0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 10 0 0.00 4 2 33.33 - - - ZNF234 0 genome.wustl.edu 37 19 44660780 44660780 + Missense_Mutation SNP A A G TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd45e46c-50bf-449e-bb40-29ccffbbd49c 51960d24-2753-46e9-ab1d-e1b41c0ad0c5 19 44660780 44660780 A G SNP ZNF234 ENST00000426739 human ensembl 69_37n +1 known missense c.611 p.Y204C 0.039 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 153 1 0.65 141 76 35.02 - - -