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 ABCA1 0 genome.wustl.edu 37 9 107581011 107581011 + Frame_Shift_Del DEL T T - TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 9 107581011 107581011 T - DEL ABCA1 ENST00000374736 human ensembl 69_37n -1 known frame_shift_del c.3395 p.K1132fs 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 123 0 0.00 103 25 19.53 - - - ABCA1 0 genome.wustl.edu 37 9 107581011 107581011 + Frame_Shift_Del DEL T T - TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 9 107581011 107581011 T - DEL ABCA1 ENST00000374736 human ensembl 69_37n -1 known frame_shift_del c.3395 p.K1132fs 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 92 0 0.00 103 25 19.53 - - - AFTPH 0 genome.wustl.edu 37 2 64780391 64780391 + Missense_Mutation SNP G G A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 2 64780391 64780391 G A SNP AFTPH ENST00000422803 human ensembl 69_37n +1 known missense c.1783 p.E595K 0.977 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 206 0 0.00 144 29 16.67 - - - AFTPH 0 genome.wustl.edu 37 2 64780391 64780391 + Missense_Mutation SNP G G A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 2 64780391 64780391 G A SNP AFTPH ENST00000422803 human ensembl 69_37n +1 known missense c.1783 p.E595K 0.977 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 128 1 0.78 144 29 16.67 - - - C1orf198 0 genome.wustl.edu 37 1 230979500 230979500 + Missense_Mutation SNP A A G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 1 230979500 230979500 A G SNP C1orf198 ENST00000366663 human ensembl 69_37n -1 known missense c.527 p.L176P 0.131 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 125 0 0.00 196 60 23.26 - - - C1orf198 0 genome.wustl.edu 37 1 230979500 230979500 + Missense_Mutation SNP A A G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 1 230979500 230979500 A G SNP C1orf198 ENST00000366663 human ensembl 69_37n -1 known missense c.527 p.L176P 0.131 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 181 0 0.00 196 60 23.26 - - - CLNK 0 genome.wustl.edu 37 4 10566399 10566399 + Missense_Mutation SNP T T C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 4 10566399 10566399 T C SNP CLNK ENST00000226951 human ensembl 69_37n -1 known missense c.295 p.T99A 0.623 NULL pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 - no_errors CLNK HGNC ENSG00000109684 66 0 0.00 38 25 39.68 - - - CLNK 0 genome.wustl.edu 37 4 10566399 10566399 + Missense_Mutation SNP T T C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 4 10566399 10566399 T C SNP CLNK ENST00000226951 human ensembl 69_37n -1 known missense c.295 p.T99A 0.623 NULL pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 - no_errors CLNK HGNC ENSG00000109684 64 0 0.00 38 25 39.68 - - - DDB1 0 genome.wustl.edu 37 11 61093159 61093160 + Frame_Shift_Ins INS - - C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 11 61093159 61093160 - C INS DDB1 ENST00000301764 human ensembl 69_37n -1 known frame_shift_ins c.686_685 p.A229fs 1.000:1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 25 0 0.00 36 5 12.20 - - - DHX36 0 genome.wustl.edu 37 3 153995455 153995455 + Missense_Mutation SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 3 153995455 153995455 C T SNP DHX36 ENST00000496811 human ensembl 69_37n -1 known missense c.2620 p.V874I 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 158 0 0.00 52 51 49.51 - - - DHX36 0 genome.wustl.edu 37 3 153995455 153995455 + Missense_Mutation SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 3 153995455 153995455 C T SNP DHX36 ENST00000496811 human ensembl 69_37n -1 known missense c.2620 p.V874I 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 44 0 0.00 52 51 49.51 - - - DSC2 0 genome.wustl.edu 37 18 28669470 28669470 + Missense_Mutation SNP C C A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 18 28669470 28669470 C A SNP DSC2 ENST00000280904 human ensembl 69_37n -1 known missense c.562 p.V188L 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin - no_errors DSC2 HGNC ENSG00000134755 76 0 0.00 43 22 33.85 - - - EIF4G3 0 genome.wustl.edu 37 1 21306904 21306905 + Frame_Shift_Ins INS - - G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 1 21306904 21306905 - G INS EIF4G3 ENST00000374937 human ensembl 69_37n -1 known frame_shift_ins c.269_268 p.Q90fs 1.000:1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 66 0 0.00 34 6 15.00 - - - FAM75D5 0 genome.wustl.edu 37 9 84533988 84533988 + RNA SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 9 84533988 84533988 C T SNP FAM75D5 ENST00000527857 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM75D5 HGNC ENSG00000240632 93 0 0.00 10 3 23.08 - - - FRYL 0 genome.wustl.edu 37 4 48588708 48588708 + Missense_Mutation SNP A A G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 4 48588708 48588708 A G SNP FRYL ENST00000358350 human ensembl 69_37n -1 known missense c.1678 p.C560R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 341 0 0.00 149 100 40.16 - - - HIST1H2AI 0 genome.wustl.edu 37 6 27776209 27776209 + Missense_Mutation SNP C C G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 6 27776209 27776209 C G SNP HIST1H2AI ENST00000358739 human ensembl 69_37n +1 known missense c.222 p.N74K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 40 0 0.00 40 24 37.50 - - - HIST1H2AI 0 genome.wustl.edu 37 6 27776209 27776209 + Missense_Mutation SNP C C G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 6 27776209 27776209 C G SNP HIST1H2AI ENST00000358739 human ensembl 69_37n +1 known missense c.222 p.N74K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 184 0 0.00 40 24 37.50 - - - KANK2 0 genome.wustl.edu 37 19 11289393 11289393 + Missense_Mutation SNP A A G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 19 11289393 11289393 A G SNP KANK2 ENST00000432929 human ensembl 69_37n -1 known missense c.1253 p.L418P 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 12 0 0.00 9 6 40.00 - - - KLHL24 0 genome.wustl.edu 37 3 183368623 183368623 + Missense_Mutation SNP A A C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 3 183368623 183368623 A C SNP KLHL24 ENST00000242810 human ensembl 69_37n +1 known missense c.479 p.E160A 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 188 0 0.00 166 91 35.27 - - - KLHL24 0 genome.wustl.edu 37 3 183368623 183368623 + Missense_Mutation SNP A A C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 3 183368623 183368623 A C SNP KLHL24 ENST00000242810 human ensembl 69_37n +1 known missense c.479 p.E160A 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 570 5 0.87 166 91 35.27 - - - LILRA6 0 genome.wustl.edu 37 19 54745682 54745682 + Missense_Mutation SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 19 54745682 54745682 C T SNP LILRA6 ENST00000270464 human ensembl 69_37n -1 known missense c.428 p.R143Q 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRA6 HGNC ENSG00000244482 27 0 0.00 31 6 16.22 - - - MAN2B2 0 genome.wustl.edu 37 4 6590876 6590877 + Frame_Shift_Ins INS - - AA TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 4 6590876 6590877 - AA INS MAN2B2 ENST00000285599 human ensembl 69_37n +1 known frame_shift_ins c.669_670 p.F223fs 0.947:1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 16 0 0.00 42 21 33.33 - - - MAN2B2 0 genome.wustl.edu 37 4 6590876 6590877 + Frame_Shift_Ins INS - - AA TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 4 6590876 6590877 - AA INS MAN2B2 ENST00000285599 human ensembl 69_37n +1 known frame_shift_ins c.669_670 p.F223fs 0.947:1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 39 0 0.00 42 21 33.33 - - - MDGA1 0 genome.wustl.edu 37 6 37622129 37622129 + Silent SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 6 37622129 37622129 C T SNP MDGA1 ENST00000297153 human ensembl 69_37n -1 known silent c.903 p.R301 0.821 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 22 0 0.00 17 12 41.38 - - - MDGA1 0 genome.wustl.edu 37 6 37622129 37622129 + Silent SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 6 37622129 37622129 C T SNP MDGA1 ENST00000297153 human ensembl 69_37n -1 known silent c.903 p.R301 0.821 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 23 0 0.00 17 12 41.38 - - - PAX6 0 genome.wustl.edu 37 11 31812316 31812317 + Frame_Shift_Ins INS - - G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 11 31812316 31812317 - G INS PAX6 ENST00000379107 human ensembl 69_37n -1 known frame_shift_ins c.1167_1166 p.H390fs 0.017:1.000 NULL pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 31 0 0.00 36 4 10.00 - - - PELO 0 genome.wustl.edu 37 5 52097628 52097628 + Missense_Mutation SNP C C A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 5 52097628 52097628 C A SNP PELO ENST00000274311 human ensembl 69_37n +1 known missense c.1112 p.P371H 1.000 NULL pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 39 0 0.00 43 28 39.44 - - - PELO 0 genome.wustl.edu 37 5 52097628 52097628 + Missense_Mutation SNP C C A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 5 52097628 52097628 C A SNP PELO ENST00000274311 human ensembl 69_37n +1 known missense c.1112 p.P371H 1.000 NULL pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 66 0 0.00 43 28 39.44 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 97 0 0.00 36 43 54.43 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 68 0 0.00 36 43 54.43 - - - RDH16 0 genome.wustl.edu 37 12 57348901 57348901 + Missense_Mutation SNP G G A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 12 57348901 57348901 G A SNP RDH16 ENST00000398138 human ensembl 69_37n -1 known missense c.361 p.P121S 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 40 0 0.00 38 6 13.64 - - - RDH16 0 genome.wustl.edu 37 12 57348901 57348901 + Missense_Mutation SNP G G A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 12 57348901 57348901 G A SNP RDH16 ENST00000398138 human ensembl 69_37n -1 known missense c.361 p.P121S 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 53 0 0.00 38 6 13.64 - - - RYR2 0 genome.wustl.edu 37 1 237947546 237947546 + Silent SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 1 237947546 237947546 C T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.12552 p.N4184 0.242 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 265 0 0.00 211 59 21.85 - - - SLCO3A1 0 genome.wustl.edu 37 15 92647538 92647538 + Missense_Mutation SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 15 92647538 92647538 C T SNP SLCO3A1 ENST00000318445 human ensembl 69_37n +1 known missense c.775 p.R259C 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 340 0 0.00 157 41 20.71 - - - SLCO3A1 0 genome.wustl.edu 37 15 92647538 92647538 + Missense_Mutation SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 15 92647538 92647538 C T SNP SLCO3A1 ENST00000318445 human ensembl 69_37n +1 known missense c.775 p.R259C 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 149 0 0.00 157 41 20.71 - - - SMCR7L 0 genome.wustl.edu 37 22 39910165 39910165 + Frame_Shift_Del DEL A A - TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 22 39910165 39910165 A - DEL SMCR7L ENST00000325301 human ensembl 69_37n +1 known frame_shift_del c.1229 p.Q410fs 1.000 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 40 0 0.00 77 34 30.36 - - - SMCR7L 0 genome.wustl.edu 37 22 39910165 39910165 + Frame_Shift_Del DEL A A - TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 22 39910165 39910165 A - DEL SMCR7L ENST00000325301 human ensembl 69_37n +1 known frame_shift_del c.1229 p.Q410fs 1.000 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 131 0 0.00 77 34 30.36 - - - SORCS3 0 genome.wustl.edu 37 10 106959855 106959855 + Missense_Mutation SNP C C G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 10 106959855 106959855 C G SNP SORCS3 ENST00000369701 human ensembl 69_37n +1 known missense c.2108 p.T703S 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 213 0 0.00 91 55 37.67 - - - STAG2 0 genome.wustl.edu 37 X 123220476 123220476 + Nonsense_Mutation SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d X 123220476 123220476 C T SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known nonsense c.3133 p.R1045* 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 276 0 0.00 159 78 32.77 - - - STAG2 0 genome.wustl.edu 37 X 123220476 123220476 + Nonsense_Mutation SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 X 123220476 123220476 C T SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known nonsense c.3133 p.R1045* 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 198 2 1.00 159 78 32.77 - - - SULT1A4 0 genome.wustl.edu 37 16 29472811 29472811 + Silent SNP A A G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 16 29472811 29472811 A G SNP SULT1A4 ENST00000565290 human ensembl 69_37n +1 known silent c.105 p.Q35 0.951 NULL pfam_Sulfotransferase_dom - no_errors SULT1A4 HGNC ENSG00000213648 37 0 0.00 2 2 50.00 - - - TBX3 0 genome.wustl.edu 37 12 115118819 115118820 + Frame_Shift_Ins INS - - C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 12 115118819 115118820 - C INS TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_ins c.522_521 p.K175fs 0.995:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 80 0 0.00 54 30 35.71 - - - UNC5D 0 genome.wustl.edu 37 8 35425642 35425642 + Missense_Mutation SNP A A T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 8 35425642 35425642 A T SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.349 p.N117Y 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 268 0 0.00 184 74 28.68 - - - UNC5D 0 genome.wustl.edu 37 8 35425642 35425642 + Missense_Mutation SNP A A T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 8 35425642 35425642 A T SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.349 p.N117Y 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 317 3 0.94 184 74 28.68 - - - WDR91 0 genome.wustl.edu 37 7 134890683 134890683 + Missense_Mutation SNP T T C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 7 134890683 134890683 T C SNP WDR91 ENST00000354475 human ensembl 69_37n -1 known missense c.722 p.E241G 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 90 0 0.00 59 40 40.40 - - - WNT7A 0 genome.wustl.edu 37 3 13916460 13916460 + Frame_Shift_Del DEL C C - TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 3 13916460 13916460 C - DEL WNT7A ENST00000285018 human ensembl 69_37n -1 known frame_shift_del c.282 p.K95fs 0.699 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 61 0 0.00 15 2 11.76 - - - ZC3HAV1 0 genome.wustl.edu 37 7 138738313 138738313 + Missense_Mutation SNP A A T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 7 138738313 138738313 A T SNP ZC3HAV1 ENST00000242351 human ensembl 69_37n -1 known missense c.2333 p.M778K 0.992 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 187 0 0.00 139 82 36.94 - - - ZNF434 0 genome.wustl.edu 37 16 3447282 3447282 + Missense_Mutation SNP C C G TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 16 3447282 3447282 C G SNP ZNF434 ENST00000396846 human ensembl 69_37n -1 known missense c.276 p.E92D 0.417 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ENSG00000140987 9 0 0.00 11 4 26.67 - - - ZNF733P 0 genome.wustl.edu 37 7 62752861 62752861 + RNA SNP G G A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 ef4ad5bd-7fd5-4847-86cc-70f0a075656d 7 62752861 62752861 G A SNP ZNF733P ENST00000331425 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 58 0 0.00 56 24 29.63 - - - ZNF733P 0 genome.wustl.edu 37 7 62752861 62752861 + RNA SNP G G A TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0abb515a-8645-42d9-a5f4-f1363bc17ef9 bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6 7 62752861 62752861 G A SNP ZNF733P ENST00000331425 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 88 0 0.00 56 24 29.63 - - -