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 ABCC8 0 genome.wustl.edu 37 11 17428939 17428939 + Missense_Mutation SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 11 17428939 17428939 G A SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known missense c.2885 p.S962L 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 180 0 0.00 191 32 14.35 - - - CDK12 0 genome.wustl.edu 37 17 37687471 37687472 + Frame_Shift_Ins INS - - G TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 17 37687471 37687472 - G INS CDK12 ENST00000447079 human ensembl 69_37n +1 known frame_shift_ins c.4375_4376 p.P1463fs 1.000:1.000 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 CDK12 HGNC ENSG00000167258 34 0 0.00 37 6 13.95 - - - CILP 0 genome.wustl.edu 37 15 65491181 65491181 + Missense_Mutation SNP G G T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 15 65491181 65491181 G T SNP CILP ENST00000261883 human ensembl 69_37n -1 known missense c.1443 p.S481R 1.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC ENSG00000138615 45 0 0.00 41 5 10.87 - - - CLP1 0 genome.wustl.edu 37 11 57428789 57428790 + Frame_Shift_Del DEL AT AT - TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 11 57428789 57428790 AT - DEL CLP1 ENST00000525602 human ensembl 69_37n +1 known frame_shift_del c.1159_1160 p.I387fs 1.000:1.000 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors CLP1 HGNC ENSG00000172409 226 0 0.00 163 72 30.38 - - - CPSF1 0 genome.wustl.edu 37 8 145624997 145624997 + Frame_Shift_Del DEL A A - TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 8 145624997 145624997 A - DEL CPSF1 ENST00000349769 human ensembl 69_37n -1 known frame_shift_del c.1223 p.V408fs 0.026 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 21 0 0.00 19 32 62.75 - - - CYP7B1 0 genome.wustl.edu 37 8 65527680 65527680 + Silent SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 8 65527680 65527680 G A SNP CYP7B1 ENST00000310193 human ensembl 69_37n -1 known silent c.960 p.D320 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 123 0 0.00 149 21 12.28 - - - DCAF4L1 0 genome.wustl.edu 37 4 41984183 41984183 + Missense_Mutation SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 4 41984183 41984183 G A SNP DCAF4L1 ENST00000333141 human ensembl 69_37n +1 known missense c.374 p.R125Q 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 67 0 0.00 52 9 14.75 - - - EHF 0 genome.wustl.edu 37 11 34664214 34664214 + Missense_Mutation SNP C C G TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 11 34664214 34664214 C G SNP EHF ENST00000257831 human ensembl 69_37n +1 known missense c.37 p.P13A 1.000 superfamily_SAM/pointed pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors EHF HGNC ENSG00000135373 111 0 0.00 31 12 27.91 - - - EML3 0 genome.wustl.edu 37 11 62378801 62378802 + Frame_Shift_Ins INS - - G TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 11 62378801 62378802 - G INS EML3 ENST00000529309 human ensembl 69_37n -1 known frame_shift_ins c.210_209 p.G71fs 0.982:1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 17 0 0.00 10 3 23.08 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 63 0 0.00 46 6 11.54 - - - GALNTL2 0 genome.wustl.edu 37 3 16216886 16216887 + Frame_Shift_Del DEL AG AG - TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 3 16216886 16216887 AG - DEL GALNTL2 ENST00000339732 human ensembl 69_37n +1 known frame_shift_del c.228_229 p.E77fs 0.263:0.860 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL2 HGNC ENSG00000131386 130 0 0.00 163 89 35.32 - - - GALNTL2 0 genome.wustl.edu 37 3 16216891 16216891 + Frame_Shift_Del DEL A A - TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 3 16216891 16216891 A - DEL GALNTL2 ENST00000339732 human ensembl 69_37n +1 known frame_shift_del c.233 p.Y78fs 0.905 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL2 HGNC ENSG00000131386 137 0 0.00 147 89 37.71 - - - GLB1L3 0 genome.wustl.edu 37 11 134179562 134179562 + Missense_Mutation SNP C C T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 11 134179562 134179562 C T SNP GLB1L3 ENST00000431683 human ensembl 69_37n +1 known missense c.1004 p.S335F 1.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 61 0 0.00 46 33 41.77 - - - GNB3 0 genome.wustl.edu 37 12 6952161 6952161 + Nonsense_Mutation SNP C C T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 12 6952161 6952161 C T SNP GNB3 ENST00000229264 human ensembl 69_37n +1 known nonsense c.124 p.R42* 1.000 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC ENSG00000111664 219 0 0.00 194 22 10.19 - - - IRF2BP2 0 genome.wustl.edu 37 1 234743301 234743302 + Frame_Shift_Ins INS - - A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 1 234743301 234743302 - A INS IRF2BP2 ENST00000366609 human ensembl 69_37n -1 known frame_shift_ins c.1346_1345 p.S449fs 1.000:1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 71 0 0.00 20 7 25.93 - - - KDM4C 0 genome.wustl.edu 37 9 6793072 6793072 + Silent SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 9 6793072 6793072 G A SNP KDM4C ENST00000381309 human ensembl 69_37n +1 known silent c.84 p.E28 0.431 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 79 0 0.00 94 19 16.81 - - - KIAA2022 0 genome.wustl.edu 37 X 73963301 73963301 + Frame_Shift_Del DEL A A - TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc X 73963301 73963301 A - DEL KIAA2022 ENST00000055682 human ensembl 69_37n -1 known frame_shift_del c.1091 p.F364fs 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 124 0 0.00 124 23 15.65 - - - LDB2 0 genome.wustl.edu 37 4 16504298 16504298 + Missense_Mutation SNP A A T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 4 16504298 16504298 A T SNP LDB2 ENST00000304523 human ensembl 69_37n -1 known missense c.1090 p.S364T 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 146 0 0.00 129 18 12.24 - - - LRFN2 0 genome.wustl.edu 37 6 40400576 40400577 + Frame_Shift_Ins INS - - C TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 6 40400576 40400577 - C INS LRFN2 ENST00000338305 human ensembl 69_37n -1 known frame_shift_ins c.277_276 p.P92fs 1.000:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC ENSG00000156564 58 0 0.00 31 17 35.42 - - - LRIG2 0 genome.wustl.edu 37 1 113616247 113616248 + Frame_Shift_Ins INS - - C TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 1 113616247 113616248 - C INS LRIG2 ENST00000361127 human ensembl 69_37n +1 known frame_shift_ins c.219_220 p.D75fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 21 0 0.00 18 2 10.00 - - - LSMD1 0 genome.wustl.edu 37 17 7760674 7760675 + Frame_Shift_Ins INS - - C TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 17 7760674 7760675 - C INS LSMD1 ENST00000333775 human ensembl 69_37n -1 known frame_shift_ins c.68_67 p.L23fs 0.000:0.007 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSMD1 HGNC ENSG00000183011 8 0 0.00 10 5 33.33 - - - MAGEA8 0 genome.wustl.edu 37 X 149013310 149013311 + Frame_Shift_Ins INS - - G TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc X 149013310 149013311 - G INS MAGEA8 ENST00000286482 human ensembl 69_37n +1 known frame_shift_ins c.264_265 p.S88fs 0.001:0.002 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 66 0 0.00 28 12 30.00 - - - MAGEA8 0 genome.wustl.edu 37 X 149013312 149013313 + Frame_Shift_Ins INS - - T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc X 149013312 149013313 - T INS MAGEA8 ENST00000286482 human ensembl 69_37n +1 known frame_shift_ins c.266_267 p.N90fs 0.001:0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 67 0 0.00 29 12 29.27 - - - MAST1 0 genome.wustl.edu 37 19 12978650 12978651 + Frame_Shift_Ins INS - - C TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 19 12978650 12978651 - C INS MAST1 ENST00000251472 human ensembl 69_37n +1 known frame_shift_ins c.2425_2426 p.Q811fs 0.596:0.615 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 27 0 0.00 27 3 10.00 - - - MST1P9 0 genome.wustl.edu 37 1 17083776 17083776 + Missense_Mutation SNP C C A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 1 17083776 17083776 C A SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known missense c.2021 p.R674L 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 30 0 0.00 52 9 14.52 - - - NRBP1 0 genome.wustl.edu 37 2 27656951 27656951 + Frame_Shift_Del DEL G G - TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 2 27656951 27656951 G - DEL NRBP1 ENST00000233557 human ensembl 69_37n +1 known frame_shift_del c.429 p.A144fs 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 NRBP1 HGNC ENSG00000115216 96 0 0.00 82 54 39.13 - - - NYAP2 0 genome.wustl.edu 37 2 226273793 226273793 + Missense_Mutation SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 2 226273793 226273793 G A SNP NYAP2 ENST00000272907 human ensembl 69_37n +1 known missense c.197 p.R66Q 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 63 0 0.00 64 11 14.47 - - - OR56A1 0 genome.wustl.edu 37 11 6048841 6048841 + Missense_Mutation SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 11 6048841 6048841 G A SNP OR56A1 ENST00000316650 human ensembl 69_37n -1 known missense c.94 p.H32Y 0.930 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 444 0 0.00 345 42 10.82 - - - OXER1 0 genome.wustl.edu 37 2 42991088 42991089 + Frame_Shift_Ins INS - - C TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 2 42991088 42991089 - C INS OXER1 ENST00000378661 human ensembl 69_37n -1 known frame_shift_ins c.232_231 p.S77fs 0.000:0.001 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 41 0 0.00 45 5 10.00 - - - PARP12 0 genome.wustl.edu 37 7 139726015 139726015 + Missense_Mutation SNP C C G TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 7 139726015 139726015 C G SNP PARP12 ENST00000263549 human ensembl 69_37n -1 known missense c.1762 p.G588R 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 76 0 0.00 31 27 46.55 - - - PGA5 0 genome.wustl.edu 37 11 61017206 61017206 + Missense_Mutation SNP C C G TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 11 61017206 61017206 C G SNP PGA5 ENST00000312403 human ensembl 69_37n +1 known missense c.839 p.T280S 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors PGA5 HGNC ENSG00000256713 154 0 0.00 124 106 45.89 - - - POTEE 0 genome.wustl.edu 37 2 132021946 132021946 + Missense_Mutation SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 2 132021946 132021946 G A SNP POTEE ENST00000356920 human ensembl 69_37n +1 known missense c.2918 p.G973D 1.000 pfam_Actin-like,smart_Actin-like 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 8 0 0.00 13 10 43.48 - - - PPP1R32 0 genome.wustl.edu 37 11 61258004 61258004 + Missense_Mutation SNP A A C TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 11 61258004 61258004 A C SNP PPP1R32 ENST00000338608 human ensembl 69_37n +1 known missense c.1240 p.N414H 0.000 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 78 0 0.00 83 26 23.85 - - - REV1 0 genome.wustl.edu 37 2 100019354 100019354 + Silent SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 2 100019354 100019354 G A SNP REV1 ENST00000258428 human ensembl 69_37n -1 known silent c.3382 p.L1128 0.966 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 149 0 0.00 86 22 20.37 - - - RSBN1L 0 genome.wustl.edu 37 7 77379331 77379331 + Missense_Mutation SNP T T G TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 7 77379331 77379331 T G SNP RSBN1L ENST00000334955 human ensembl 69_37n +1 known missense c.1294 p.L432V 0.992 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 88 0 0.00 33 15 31.25 - - - SLC25A5 0 genome.wustl.edu 37 X 118603962 118603962 + Frame_Shift_Del DEL T T - TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc X 118603962 118603962 T - DEL SLC25A5 ENST00000317881 human ensembl 69_37n +1 known frame_shift_del c.450 p.E151fs 0.913 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 54 0 0.00 50 8 13.79 - - - SOCS7 0 genome.wustl.edu 37 17 36522192 36522192 + Missense_Mutation SNP C C T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 17 36522192 36522192 C T SNP SOCS7 ENST00000580660 human ensembl 69_37n +1 putative missense c.178 p.H60Y 0.997 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_start_codon:pseudogene:no_stop_codon SOCS7 HGNC ENSG00000174111 133 0 0.00 87 44 33.59 - - - SPNS1 0 genome.wustl.edu 37 16 28986519 28986519 + Missense_Mutation SNP C C G TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 16 28986519 28986519 C G SNP SPNS1 ENST00000311008 human ensembl 69_37n +1 known missense c.47 p.P16R 0.998 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 36 0 0.00 34 8 19.05 - - - SRCAP 0 genome.wustl.edu 37 16 30722123 30722123 + Missense_Mutation SNP C C T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 16 30722123 30722123 C T SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.1183 p.H395Y 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 357 0 0.00 301 54 15.21 - - - TMEM233 0 genome.wustl.edu 37 12 120031840 120031840 + Splice_Site SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 12 120031840 120031840 G A SNP TMEM233 ENST00000426426 human ensembl 69_37n +1 known splice_site c.186+1 e1+1 1.000 - - - no_errors TMEM233 HGNC ENSG00000224982 365 0 0.00 315 84 21.00 - - - TMPRSS11B 0 genome.wustl.edu 37 4 69094493 69094493 + Silent SNP A A T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 4 69094493 69094493 A T SNP TMPRSS11B ENST00000332644 human ensembl 69_37n -1 known silent c.1056 p.A352 0.998 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6 - no_errors TMPRSS11B HGNC ENSG00000185873 188 1 0.53 92 11 10.68 - - - WIF1 0 genome.wustl.edu 37 12 65460458 65460458 + Missense_Mutation SNP G G C TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 12 65460458 65460458 G C SNP WIF1 ENST00000286574 human ensembl 69_37n -1 known missense c.693 p.I231M 1.000 pfam_EGF_extracell,smart_EGF-like,pfscan_EG-like_dom pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EGF-like,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 127 0 0.00 150 19 11.24 - - - YIPF7 0 genome.wustl.edu 37 4 44626756 44626756 + Missense_Mutation SNP A A T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 4 44626756 44626756 A T SNP YIPF7 ENST00000332990 human ensembl 69_37n -1 known missense c.542 p.I181N 0.999 pfam_Yip1 pfam_Yip1 - no_errors YIPF7 HGNC ENSG00000177752 219 0 0.00 131 25 16.03 - - - ZNF362 0 genome.wustl.edu 37 1 33745932 33745933 + Frame_Shift_Ins INS - - C TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 1 33745932 33745933 - C INS ZNF362 ENST00000373428 human ensembl 69_37n +1 known frame_shift_ins c.557_558 p.K189fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 32 0 0.00 47 6 11.32 - - - ZNF486 0 genome.wustl.edu 37 19 20307906 20307906 + Silent SNP G G T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9aa68af-f5fe-4ac0-987f-8af49b85c231 f41d6d14-ad4f-49d5-a4fb-6bdd1b6dbddc 19 20307906 20307906 G T SNP ZNF486 ENST00000335117 human ensembl 69_37n +1 known silent c.387 p.V129 0.982 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 63 0 0.00 99 24 19.51 - - -