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 ABAT 0 genome.wustl.edu 37 16 8829606 8829606 + Missense_Mutation SNP A A G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 16 8829606 8829606 A G SNP ABAT ENST00000268251 human ensembl 69_37n +1 known missense c.10 p.M4V 0.968 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 16 0 0.00 2 7 77.78 - - - ABCA13 0 genome.wustl.edu 37 7 48284232 48284232 + Missense_Mutation SNP T T C TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 7 48284232 48284232 T C SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.1322 p.L441P 0.025 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 109 0 0.00 86 36 29.51 - - - AGL 0 genome.wustl.edu 37 1 100376361 100376361 + Frame_Shift_Del DEL A A - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 1 100376361 100376361 A - DEL AGL ENST00000294724 human ensembl 69_37n +1 known frame_shift_del c.3794 p.S1266fs 1.000 pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 79 0 0.00 117 99 44.80 - - - AGMAT 0 genome.wustl.edu 37 1 15905362 15905362 + Missense_Mutation SNP G G A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 1 15905362 15905362 G A SNP AGMAT ENST00000375826 human ensembl 69_37n -1 known missense c.712 p.R238W 0.767 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 58 0 0.00 12 8 40.00 - - - ALG11 0 genome.wustl.edu 37 13 52586563 52586563 + Silent SNP C C T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 13 52586563 52586563 C T SNP ALG11 ENST00000521508 human ensembl 69_37n +1 known silent c.9 p.A3 0.000 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 22 0 0.00 16 11 40.74 - - - ARHGAP35 0 genome.wustl.edu 37 19 47424158 47424158 + Nonsense_Mutation SNP C C G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 19 47424158 47424158 C G SNP ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known nonsense c.2226 p.Y742* 0.932 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 64 0 0.00 51 27 34.62 - - - CARM1 0 genome.wustl.edu 37 19 11024609 11024609 + Frame_Shift_Del DEL G G - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 19 11024609 11024609 G - DEL CARM1 ENST00000327064 human ensembl 69_37n +1 known frame_shift_del c.726 p.E243fs 1.000 pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11 pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 26 0 0.00 5 2 28.57 - - - CHRNA7 0 genome.wustl.edu 37 15 32460485 32460485 + Silent SNP C C T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 15 32460485 32460485 C T SNP CHRNA7 ENST00000454250 human ensembl 69_37n +1 known silent c.1422 p.N474 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 8 0 0.00 3 3 50.00 - - - COLEC12 0 genome.wustl.edu 37 18 334817 334818 + Frame_Shift_Ins INS - - G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 18 334817 334818 - G INS COLEC12 ENST00000400256 human ensembl 69_37n -1 known frame_shift_ins c.1741_1740 p.G580fs 0.997:0.111 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 28 0 0.00 9 2 18.18 - - - DNMT1 0 genome.wustl.edu 37 19 10249146 10249146 + Missense_Mutation SNP C C G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 19 10249146 10249146 C G SNP DNMT1 ENST00000359526 human ensembl 69_37n -1 known missense c.4084 p.D1362H 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 63 0 0.00 25 4 13.79 - - - DPY19L3 0 genome.wustl.edu 37 19 32949349 32949349 + Missense_Mutation SNP A A G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 19 32949349 32949349 A G SNP DPY19L3 ENST00000342179 human ensembl 69_37n +1 known missense c.1256 p.Y419C 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 134 0 0.00 119 22 15.60 - - - EIF2C1 0 genome.wustl.edu 37 1 36358236 36358236 + Silent SNP G G A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 1 36358236 36358236 G A SNP EIF2C1 ENST00000373204 human ensembl 69_37n +1 known silent c.288 p.K96 1.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C1 HGNC ENSG00000092847 155 0 0.00 101 107 51.44 - - - FBXO41 0 genome.wustl.edu 37 2 73491166 73491166 + Frame_Shift_Del DEL C C - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 2 73491166 73491166 C - DEL FBXO41 ENST00000295133 human ensembl 69_37n -1 known frame_shift_del c.2005 p.A669fs 1.000 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC ENSG00000163013 29 0 0.00 4 2 33.33 - - - FREM1 0 genome.wustl.edu 37 9 14868864 14868864 + Frame_Shift_Del DEL G G - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 9 14868864 14868864 G - DEL FREM1 ENST00000380881 human ensembl 69_37n -1 known frame_shift_del c.112 p.H38fs 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 26 0 0.00 18 2 10.00 - - - GPT2 0 genome.wustl.edu 37 16 46960909 46960909 + Missense_Mutation SNP G G A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 16 46960909 46960909 G A SNP GPT2 ENST00000340124 human ensembl 69_37n +1 known missense c.1441 p.G481S 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC ENSG00000166123 70 0 0.00 43 23 34.85 - - - HPS6 0 genome.wustl.edu 37 10 103826282 103826282 + Missense_Mutation SNP G G T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 10 103826282 103826282 G T SNP HPS6 ENST00000299238 human ensembl 69_37n +1 known missense c.1051 p.D351Y 1.000 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 99 0 0.00 21 5 19.23 - - - IL23R 0 genome.wustl.edu 37 1 67648572 67648572 + Missense_Mutation SNP A A C TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 1 67648572 67648572 A C SNP IL23R ENST00000347310 human ensembl 69_37n +1 known missense c.421 p.N141H 0.985 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 280 0 0.00 307 102 24.94 - - - ITGA2B 0 genome.wustl.edu 37 17 42463072 42463073 + Frame_Shift_Ins INS - - G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 17 42463072 42463073 - G INS ITGA2B ENST00000262407 human ensembl 69_37n -1 known frame_shift_ins c.421_420 p.W140fs 0.998:0.998 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 19 0 0.00 8 2 20.00 - - - KCNA1 0 genome.wustl.edu 37 12 5021358 5021358 + Missense_Mutation SNP G G A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 12 5021358 5021358 G A SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known missense c.814 p.E272K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 119 0 0.00 65 30 31.25 - - - KIAA0930 0 genome.wustl.edu 37 22 45601729 45601732 + Frame_Shift_Del DEL CCCA CCCA - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 CCCA CCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 22 45601729 45601732 CCCA - DEL KIAA0930 ENST00000251993 human ensembl 69_37n -1 known frame_shift_del c.296_293 p.L98fs 1.000:1.000:0.988:1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 55 0 0.00 17 9 34.62 - - - KIAA0930 0 genome.wustl.edu 37 22 45601738 45601738 + Frame_Shift_Del DEL G G - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 22 45601738 45601738 G - DEL KIAA0930 ENST00000251993 human ensembl 69_37n -1 known frame_shift_del c.287 p.P96fs 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 57 0 0.00 17 9 34.62 - - - LPHN1 0 genome.wustl.edu 37 19 14262349 14262349 + Frame_Shift_Del DEL A A - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 19 14262349 14262349 A - DEL LPHN1 ENST00000340736 human ensembl 69_37n -1 known frame_shift_del c.3761 p.L1254fs 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 53 0 0.00 17 2 10.53 - - - LRRC8D 0 genome.wustl.edu 37 1 90400639 90400639 + Missense_Mutation SNP G G A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 1 90400639 90400639 G A SNP LRRC8D ENST00000337338 human ensembl 69_37n +1 known missense c.2012 p.R671H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 117 0 0.00 162 48 22.86 - - - MAGEC2 0 genome.wustl.edu 37 X 141291740 141291740 + Missense_Mutation SNP C C T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 X 141291740 141291740 C T SNP MAGEC2 ENST00000247452 human ensembl 69_37n -1 known missense c.34 p.V12I 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 439 0 0.00 451 69 13.27 - - - MAML3 0 genome.wustl.edu 37 4 140811230 140811230 + Missense_Mutation SNP G G A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 4 140811230 140811230 G A SNP MAML3 ENST00000509479 human ensembl 69_37n -1 known missense c.1360 p.P454S 0.982 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 155 0 0.00 67 30 30.61 - - - MAP2K4 0 genome.wustl.edu 37 17 12028665 12028665 + Missense_Mutation SNP G G T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 17 12028665 12028665 G T SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known missense c.901 p.V301F 1.000 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 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 MAP2K4 HGNC ENSG00000065559 135 0 0.00 92 113 55.12 - - - MED15 0 genome.wustl.edu 37 22 20922834 20922835 + Frame_Shift_Ins INS - - C TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 22 20922834 20922835 - C INS MED15 ENST00000263205 human ensembl 69_37n +1 known frame_shift_ins c.1068_1069 p.V358fs 1.000:0.995 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 11 0 0.00 4 2 33.33 - - - NEB 0 genome.wustl.edu 37 2 152362016 152362017 + Frame_Shift_Del DEL CT CT - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 2 152362016 152362017 CT - DEL NEB ENST00000397345 human ensembl 69_37n -1 known frame_shift_del c.23718_23717 p.K7906fs 1.000:1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 223 0 0.00 221 42 15.38 - - - NKAPP1 0 genome.wustl.edu 37 X 119374159 119374159 + RNA SNP C C A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 X 119374159 119374159 C A SNP NKAPP1 ENST00000452254 human ensembl 69_37n -1 known rna NULL NULL 0.200 - - - no_errors NKAPP1 HGNC ENSG00000233382 161 0 0.00 148 53 26.24 - - - OR2A7 0 genome.wustl.edu 37 7 143956296 143956297 + Frame_Shift_Ins INS - - T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 7 143956296 143956297 - T INS OR2A7 ENST00000493325 human ensembl 69_37n -1 known frame_shift_ins c.426_425 p.L143fs 0.000:0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A7 HGNC ENSG00000243896 34 0 0.00 11 2 15.38 - - - PCDHGA2 0 genome.wustl.edu 37 5 140720425 140720425 + Silent SNP G G A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 5 140720425 140720425 G A SNP PCDHGA2 ENST00000394576 human ensembl 69_37n +1 known silent c.1887 p.A629 0.005 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 143 1 0.69 74 33 30.84 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 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 157 0 0.00 176 351 66.60 - - - PLXNA1 0 genome.wustl.edu 37 3 126735390 126735391 + Frame_Shift_Ins INS - - C TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 3 126735390 126735391 - C INS PLXNA1 ENST00000393409 human ensembl 69_37n +1 known frame_shift_ins c.3045_3046 p.G1017fs 0.554:0.981 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 32 0 0.00 12 3 20.00 - - - POTEE 0 genome.wustl.edu 37 2 131976219 131976219 + Missense_Mutation SNP G G A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 2 131976219 131976219 G A SNP POTEE ENST00000356920 human ensembl 69_37n +1 known missense c.244 p.A82T 0.002 NULL pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors AC131180.1 Clone_based_ensembl_gene ENSG00000188219 82 0 0.00 41 29 41.43 - - - PPFIA2 0 genome.wustl.edu 37 12 81671196 81671196 + Silent SNP T T C TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 12 81671196 81671196 T C SNP PPFIA2 ENST00000333447 human ensembl 69_37n -1 known silent c.3174 p.K1058 0.185 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_tRNA-bd_arm,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 8 0 0.00 10 11 52.38 - - - RELL1 0 genome.wustl.edu 37 4 37640083 37640083 + Silent SNP C C A TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 4 37640083 37640083 C A SNP RELL1 ENST00000314117 human ensembl 69_37n -1 known silent c.429 p.L143 0.013 NULL pfam_TNF_rcpt_RELT - no_errors RELL1 HGNC ENSG00000181826 138 0 0.00 95 70 42.42 - - - SLC1A3 0 genome.wustl.edu 37 5 36679791 36679791 + Missense_Mutation SNP G G T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 5 36679791 36679791 G T SNP SLC1A3 ENST00000265113 human ensembl 69_37n +1 known missense c.923 p.G308V 0.989 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 252 0 0.00 209 44 17.39 - - - SLC27A5 0 genome.wustl.edu 37 19 59022779 59022780 + Frame_Shift_Ins INS - - C TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 19 59022779 59022780 - C INS SLC27A5 ENST00000263093 human ensembl 69_37n -1 known frame_shift_ins c.544_543 p.S181fs 0.000:0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 28 0 0.00 7 2 22.22 - - - STRADA 0 genome.wustl.edu 37 17 61781404 61781404 + Frame_Shift_Del DEL G G - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 17 61781404 61781404 G - DEL STRADA ENST00000336174 human ensembl 69_37n -1 known frame_shift_del c.1104 p.S369fs 0.606 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADA HGNC ENSG00000266173 24 0 0.00 16 2 11.11 - - - THOC1 0 genome.wustl.edu 37 18 225118 225119 + Frame_Shift_Ins INS - - G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 18 225118 225119 - G INS THOC1 ENST00000261600 human ensembl 69_37n -1 known frame_shift_ins c.1108_1107 p.D369fs 1.000:0.059 pfam_THO_THOC1 pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death - no_errors THOC1 HGNC ENSG00000079134 27 0 0.00 20 3 13.04 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 155 0 0.00 53 56 51.38 - - - TRPC4AP 0 genome.wustl.edu 37 20 33598008 33598010 + In_Frame_Del DEL GCT GCT - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 20 33598008 33598010 GCT - DEL TRPC4AP ENST00000252015 human ensembl 69_37n -1 known in_frame_del c.1493_1491 p.EA497in_frame_delD 1.000:1.000:0.697 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 60 0 0.00 46 11 19.30 - - - TTN 0 genome.wustl.edu 37 2 179639817 179639817 + Missense_Mutation SNP C C G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 2 179639817 179639817 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.6621 p.W2207C 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 157 0 0.00 184 28 13.21 - - - USP38 0 genome.wustl.edu 37 4 144116875 144116875 + Missense_Mutation SNP T T G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 4 144116875 144116875 T G SNP USP38 ENST00000307017 human ensembl 69_37n +1 known missense c.825 p.I275M 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP38 HGNC ENSG00000170185 126 0 0.00 134 52 27.96 - - - VWA7 0 genome.wustl.edu 37 6 31740805 31740805 + Missense_Mutation SNP C C T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 6 31740805 31740805 C T SNP VWA7 ENST00000375686 human ensembl 69_37n -1 known missense c.1013 p.R338H 0.741 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 35 0 0.00 14 6 30.00 - - - ZIC2 0 genome.wustl.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 13 100635008 100635010 CCA - DEL ZIC2 ENST00000376335 human ensembl 69_37n +1 known in_frame_del c.690_692 p.H234in_frame_del 0.990:0.999:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 30 0 0.00 4 2 33.33 - - - ZNF646 0 genome.wustl.edu 37 16 31090899 31090899 + Missense_Mutation SNP C C T TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db589949-1630-45b2-b09b-0312d3efd60b 066a335d-a487-40d1-963c-71a15f5ed769 16 31090899 31090899 C T SNP ZNF646 ENST00000300850 human ensembl 69_37n +1 known missense c.3254 p.S1085F 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 182 0 0.00 50 14 21.88 - - -