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 ACTR3B 0 genome.wustl.edu 37 7 152550654 152550654 + Missense_Mutation SNP G G A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 7 152550654 152550654 G A SNP ACTR3B ENST00000256001 human ensembl 69_37n +1 known missense c.1153 p.A385T 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR3B HGNC ENSG00000133627 24 0 0.00 12 5 29.41 - - - ACTR3B 0 genome.wustl.edu 37 7 152550654 152550654 + Missense_Mutation SNP G G A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 7 152550654 152550654 G A SNP ACTR3B ENST00000256001 human ensembl 69_37n +1 known missense c.1153 p.A385T 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR3B HGNC ENSG00000133627 21 0 0.00 12 5 29.41 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69421946 69421946 + Silent SNP T T C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 9 69421946 69421946 T C SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known silent c.1410 p.Y470 0.129 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 8 0 0.00 11 7 38.89 - - - APOA5 0 genome.wustl.edu 37 11 116660880 116660881 + In_Frame_Ins INS - - AGG TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 11 116660880 116660881 - AGG INS APOA5 ENST00000227665 human ensembl 69_37n -1 known in_frame_ins c.1065_1064 p.356in_frame_insL 0.726:0.838 NULL pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 17 0 0.00 22 6 21.43 - - - APOA5 0 genome.wustl.edu 37 11 116660880 116660881 + In_Frame_Ins INS - - AGG TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 11 116660880 116660881 - AGG INS APOA5 ENST00000227665 human ensembl 69_37n -1 known in_frame_ins c.1065_1064 p.356in_frame_insL 0.726:0.838 NULL pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 23 0 0.00 22 6 21.43 - - - BHLHE40 0 genome.wustl.edu 37 3 5022090 5022091 + Frame_Shift_Ins INS - - A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 3 5022090 5022091 - A INS BHLHE40 ENST00000256495 human ensembl 69_37n +1 known frame_shift_ins c.255_256 p.T85fs 1.000:1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors BHLHE40 HGNC ENSG00000134107 47 0 0.00 12 3 20.00 - - - BHLHE40 0 genome.wustl.edu 37 3 5022090 5022091 + Frame_Shift_Ins INS - - A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 3 5022090 5022091 - A INS BHLHE40 ENST00000256495 human ensembl 69_37n +1 known frame_shift_ins c.255_256 p.T85fs 1.000:1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors BHLHE40 HGNC ENSG00000134107 16 0 0.00 12 3 20.00 - - - C19orf57 0 genome.wustl.edu 37 19 14000926 14000926 + Frame_Shift_Del DEL T T - TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 19 14000926 14000926 T - DEL C19orf57 ENST00000454313 human ensembl 69_37n -1 known frame_shift_del c.743 p.D248fs 0.022 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 41 0 0.00 35 202 82.45 - - - C19orf57 0 genome.wustl.edu 37 19 14000926 14000926 + Frame_Shift_Del DEL T T - TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 19 14000926 14000926 T - DEL C19orf57 ENST00000454313 human ensembl 69_37n -1 known frame_shift_del c.743 p.D248fs 0.022 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 8 0 0.00 35 202 82.45 - - - CBX1 0 genome.wustl.edu 37 17 46152423 46152423 + Missense_Mutation SNP C C T TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 17 46152423 46152423 C T SNP CBX1 ENST00000225603 human ensembl 69_37n -1 known missense c.358 p.E120K 1.000 pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC ENSG00000108468 320 0 0.00 348 44 11.20 - - - CBX1 0 genome.wustl.edu 37 17 46152423 46152423 + Missense_Mutation SNP C C T TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 17 46152423 46152423 C T SNP CBX1 ENST00000225603 human ensembl 69_37n -1 known missense c.358 p.E120K 1.000 pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC ENSG00000108468 188 0 0.00 348 44 11.20 - - - CEP250 0 genome.wustl.edu 37 20 34078523 34078524 + Frame_Shift_Ins INS - - A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 20 34078523 34078524 - A INS CEP250 ENST00000397527 human ensembl 69_37n +1 known frame_shift_ins c.2647_2648 p.M885fs 0.960:0.967 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 41 0 0.00 54 7 11.48 - - - CLCA2 0 genome.wustl.edu 37 1 86904570 86904570 + Silent SNP C C A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 1 86904570 86904570 C A SNP CLCA2 ENST00000370565 human ensembl 69_37n +1 known silent c.984 p.L328 0.788 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 254 0 0.00 199 33 14.22 - - - CLCA2 0 genome.wustl.edu 37 1 86904570 86904570 + Silent SNP C C A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 1 86904570 86904570 C A SNP CLCA2 ENST00000370565 human ensembl 69_37n +1 known silent c.984 p.L328 0.788 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 158 0 0.00 199 33 14.22 - - - CNTN4 0 genome.wustl.edu 37 3 3084016 3084016 + Silent SNP T T C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 3 3084016 3084016 T C SNP CNTN4 ENST00000397461 human ensembl 69_37n +1 known silent c.2421 p.S807 0.929 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 151 0 0.00 114 21 15.56 - - - CNTN4 0 genome.wustl.edu 37 3 3084016 3084016 + Silent SNP T T C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 3 3084016 3084016 T C SNP CNTN4 ENST00000397461 human ensembl 69_37n +1 known silent c.2421 p.S807 0.929 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 139 0 0.00 114 21 15.56 - - - CREM 0 genome.wustl.edu 37 10 35500300 35500300 + Missense_Mutation SNP G G T TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 10 35500300 35500300 G T SNP CREM ENST00000333809 human ensembl 69_37n +1 known missense c.1021 p.D341Y 1.000 pfam_bZIP_1,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 79 0 0.00 73 10 12.05 - - - CREM 0 genome.wustl.edu 37 10 35500300 35500300 + Missense_Mutation SNP G G T TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 10 35500300 35500300 G T SNP CREM ENST00000333809 human ensembl 69_37n +1 known missense c.1021 p.D341Y 1.000 pfam_bZIP_1,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 51 0 0.00 73 10 12.05 - - - DIP2A 0 genome.wustl.edu 37 21 47978305 47978306 + Frame_Shift_Ins INS - - G TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 21 47978305 47978306 - G INS DIP2A ENST00000318711 human ensembl 69_37n +1 known frame_shift_ins c.3971_3972 p.T1326fs 1.000:1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 8 0 0.00 5 3 37.50 - - - DNAJB3 0 genome.wustl.edu 37 2 234652187 234652188 + RNA INS - - C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 2 234652187 234652188 - C INS DNAJB3 ENST00000449667 human ensembl 69_37n -1 known rna NULL NULL 0.050:0.014 - - - no_errors DNAJB3 HGNC ENSG00000227802 66 0 0.00 44 5 10.20 - - - FBN3 0 genome.wustl.edu 37 19 8193948 8193949 + Frame_Shift_Ins INS - - G TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 19 8193948 8193949 - G INS FBN3 ENST00000270509 human ensembl 69_37n -1 known frame_shift_ins c.2260_2259 p.G753fs 1.000:0.646 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 20 0 0.00 24 3 11.11 - - - FBN3 0 genome.wustl.edu 37 19 8193948 8193949 + Frame_Shift_Ins INS - - G TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 19 8193948 8193949 - G INS FBN3 ENST00000270509 human ensembl 69_37n -1 known frame_shift_ins c.2260_2259 p.G753fs 1.000:0.646 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 20 0 0.00 24 3 11.11 - - - FREM2 0 genome.wustl.edu 37 13 39266380 39266380 + Missense_Mutation SNP T T A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 13 39266380 39266380 T A SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.4899 p.D1633E 0.986 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 159 0 0.00 79 41 34.17 - - - FREM2 0 genome.wustl.edu 37 13 39266380 39266380 + Missense_Mutation SNP T T A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 13 39266380 39266380 T A SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.4899 p.D1633E 0.986 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 89 0 0.00 79 41 34.17 - - - HPS4 0 genome.wustl.edu 37 22 26860722 26860722 + Missense_Mutation SNP C C A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 22 26860722 26860722 C A SNP HPS4 ENST00000398141 human ensembl 69_37n -1 known missense c.913 p.A305S 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 64 0 0.00 43 12 21.82 - - - HPS4 0 genome.wustl.edu 37 22 26860722 26860722 + Missense_Mutation SNP C C A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 22 26860722 26860722 C A SNP HPS4 ENST00000398141 human ensembl 69_37n -1 known missense c.913 p.A305S 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 84 0 0.00 43 12 21.82 - - - IL27RA 0 genome.wustl.edu 37 19 14162703 14162704 + Frame_Shift_Ins INS - - GC TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 19 14162703 14162704 - GC INS IL27RA ENST00000263379 human ensembl 69_37n +1 known frame_shift_ins c.1634_1635 p.R546fs 0.083:0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 43 0 0.00 33 13 28.26 - - - IL27RA 0 genome.wustl.edu 37 19 14162703 14162704 + Frame_Shift_Ins INS - - GC TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 19 14162703 14162704 - GC INS IL27RA ENST00000263379 human ensembl 69_37n +1 known frame_shift_ins c.1634_1635 p.R546fs 0.083:0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 17 0 0.00 33 13 28.26 - - - LZTS2 0 genome.wustl.edu 37 10 102766351 102766352 + Frame_Shift_Ins INS - - T TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 10 102766351 102766352 - T INS LZTS2 ENST00000370220 human ensembl 69_37n +1 known frame_shift_ins c.1436_1437 p.E480fs 0.992:0.983 pfam_Fez1 pfam_Fez1 - no_errors LZTS2 HGNC ENSG00000107816 10 0 0.00 4 2 33.33 - - - MYCN 0 genome.wustl.edu 37 2 16082313 16082314 + Frame_Shift_Ins INS - - C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 2 16082313 16082314 - C INS MYCN ENST00000281043 human ensembl 69_37n +1 known frame_shift_ins c.127_128 p.G47fs 1.000:1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 19 0 0.00 4 2 33.33 - - - MYCN 0 genome.wustl.edu 37 2 16082313 16082314 + Frame_Shift_Ins INS - - C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 2 16082313 16082314 - C INS MYCN ENST00000281043 human ensembl 69_37n +1 known frame_shift_ins c.127_128 p.G47fs 1.000:1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 10 0 0.00 4 2 33.33 - - - NACA 0 genome.wustl.edu 37 12 57111533 57111534 + Frame_Shift_Ins INS - - G TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 12 57111533 57111534 - G INS NACA ENST00000454682 human ensembl 69_37n -1 known frame_shift_ins c.3781_3780 p.K1260fs 0.000:0.000 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC ENSG00000196531 10 0 0.00 4 2 33.33 - - - NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 69_37n -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 10 0 0.00 4 2 33.33 - - - OPN1LW 0 genome.wustl.edu 37 X 153421964 153421964 + Missense_Mutation SNP G G A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b X 153421964 153421964 G A SNP OPN1LW ENST00000369951 human ensembl 69_37n +1 known missense c.940 p.A314T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 228 0 0.00 238 34 12.50 - - - OPN1LW 0 genome.wustl.edu 37 X 153421964 153421964 + Missense_Mutation SNP G G A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 X 153421964 153421964 G A SNP OPN1LW ENST00000369951 human ensembl 69_37n +1 known missense c.940 p.A314T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 218 0 0.00 238 34 12.50 - - - OR10G9 0 genome.wustl.edu 37 11 123894588 123894588 + Missense_Mutation SNP G G A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 11 123894588 123894588 G A SNP OR10G9 ENST00000375024 human ensembl 69_37n +1 known missense c.869 p.R290K 1.000 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 212 0 0.00 196 58 22.83 - - - OR10G9 0 genome.wustl.edu 37 11 123894588 123894588 + Missense_Mutation SNP G G A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 11 123894588 123894588 G A SNP OR10G9 ENST00000375024 human ensembl 69_37n +1 known missense c.869 p.R290K 1.000 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 318 1 0.31 196 58 22.83 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 117 0 0.00 104 14 11.86 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 69 0 0.00 104 14 11.86 - - - POM121 0 genome.wustl.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 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 18 0 0.00 19 3 13.64 - - - PTCHD1 0 genome.wustl.edu 37 X 23398006 23398006 + Nonsense_Mutation SNP C C A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b X 23398006 23398006 C A SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known nonsense c.650 p.S217* 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 275 0 0.00 237 37 13.50 - - - PTCHD1 0 genome.wustl.edu 37 X 23398006 23398006 + Nonsense_Mutation SNP C C A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 X 23398006 23398006 C A SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known nonsense c.650 p.S217* 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 221 0 0.00 237 37 13.50 - - - SLC35B1 0 genome.wustl.edu 37 17 47780313 47780313 + Missense_Mutation SNP T T C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 17 47780313 47780313 T C SNP SLC35B1 ENST00000415270 human ensembl 69_37n -1 known missense c.934 p.T312A 1.000 pfam_UAA,pfam_DMT,pfam_DUF250 pfam_UAA,pfam_DMT,pfam_DUF250 - no_errors SLC35B1 HGNC ENSG00000121073 115 0 0.00 90 15 14.29 - - - SLC35B1 0 genome.wustl.edu 37 17 47780313 47780313 + Missense_Mutation SNP T T C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 17 47780313 47780313 T C SNP SLC35B1 ENST00000415270 human ensembl 69_37n -1 known missense c.934 p.T312A 1.000 pfam_UAA,pfam_DMT,pfam_DUF250 pfam_UAA,pfam_DMT,pfam_DUF250 - no_errors SLC35B1 HGNC ENSG00000121073 103 0 0.00 90 15 14.29 - - - SLC5A12 0 genome.wustl.edu 37 11 26720081 26720081 + Missense_Mutation SNP C C T TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 11 26720081 26720081 C T SNP SLC5A12 ENST00000396005 human ensembl 69_37n -1 known missense c.823 p.A275T 0.999 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 SLC5A12 HGNC ENSG00000148942 196 1 0.51 161 24 12.90 - - - SLC5A12 0 genome.wustl.edu 37 11 26720081 26720081 + Missense_Mutation SNP C C T TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 11 26720081 26720081 C T SNP SLC5A12 ENST00000396005 human ensembl 69_37n -1 known missense c.823 p.A275T 0.999 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 SLC5A12 HGNC ENSG00000148942 80 0 0.00 161 24 12.90 - - - STARD4 0 genome.wustl.edu 37 5 110835685 110835685 + Missense_Mutation SNP T T C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 5 110835685 110835685 T C SNP STARD4 ENST00000296632 human ensembl 69_37n -1 known missense c.517 p.I173V 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD4 HGNC ENSG00000164211 152 0 0.00 89 38 29.92 - - - STARD4 0 genome.wustl.edu 37 5 110835685 110835685 + Missense_Mutation SNP T T C TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 5 110835685 110835685 T C SNP STARD4 ENST00000296632 human ensembl 69_37n -1 known missense c.517 p.I173V 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD4 HGNC ENSG00000164211 53 0 0.00 89 38 29.92 - - - TAOK2 0 genome.wustl.edu 37 16 29998787 29998788 + Frame_Shift_Ins INS - - G TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 16 29998787 29998788 - G INS TAOK2 ENST00000308893 human ensembl 69_37n +1 known frame_shift_ins c.3194_3195 p.R1068fs 1.000:0.997 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 TAOK2 HGNC ENSG00000149930 39 0 0.00 26 4 13.33 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 45 0 0.00 35 13 26.53 - - - TET3 0 genome.wustl.edu 37 2 74328777 74328777 + Frame_Shift_Del DEL C C - TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 2 74328777 74328777 C - DEL TET3 ENST00000409262 human ensembl 69_37n +1 known frame_shift_del c.4457 p.A1486fs 0.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 52 0 0.00 23 16 40.00 - - - TET3 0 genome.wustl.edu 37 2 74328777 74328777 + Frame_Shift_Del DEL C C - TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-11A-23W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 9fb162fe-879e-454a-a2ce-f1471ecaf3f7 2 74328777 74328777 C - DEL TET3 ENST00000409262 human ensembl 69_37n +1 known frame_shift_del c.4457 p.A1486fs 0.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 24 0 0.00 23 16 40.00 - - - U2AF2 0 genome.wustl.edu 37 19 56173905 56173906 + Frame_Shift_Ins INS - - G TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a774aaa7-e53e-4b05-8b5a-08e9949d5fb1 43287256-9ad4-437b-932d-a0e2aef9ae2b 19 56173905 56173906 - G INS U2AF2 ENST00000308924 human ensembl 69_37n +1 known frame_shift_ins c.524_525 p.L178fs 0.991:0.923 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 11 0 0.00 9 2 18.18 - - -