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 ARHGAP1 0 genome.wustl.edu 37 11 46702223 46702224 + Frame_Shift_Ins INS - - G TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 11 46702223 46702224 - G INS ARHGAP1 ENST00000311956 human ensembl 69_37n -1 known frame_shift_ins c.710_709 p.L237fs 1.000:0.993 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 15 0 0.00 17 4 19.05 - - - CCDC105 0 genome.wustl.edu 37 19 15131381 15131381 + Missense_Mutation SNP C C T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 19 15131381 15131381 C T SNP CCDC105 ENST00000292574 human ensembl 69_37n +1 known missense c.784 p.H262Y 0.995 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 109 0 0.00 116 65 35.91 - - - COL27A1 0 genome.wustl.edu 37 9 117004482 117004482 + Missense_Mutation SNP A A T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 9 117004482 117004482 A T SNP COL27A1 ENST00000356083 human ensembl 69_37n +1 known missense c.2851 p.M951L 0.985 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 42 0 0.00 66 42 38.89 - - - CPN1 0 genome.wustl.edu 37 10 101835672 101835672 + Missense_Mutation SNP G G A TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 10 101835672 101835672 G A SNP CPN1 ENST00000370418 human ensembl 69_37n -1 known missense c.416 p.A139V 0.003 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 146 0 0.00 109 65 37.36 - - - GALNT10 0 genome.wustl.edu 37 5 153760044 153760044 + Missense_Mutation SNP C C G TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 5 153760044 153760044 C G SNP GALNT10 ENST00000297107 human ensembl 69_37n +1 known missense c.791 p.P264R 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 74 0 0.00 87 48 35.56 - - - GPR143 0 genome.wustl.edu 37 X 9716674 9716674 + Missense_Mutation SNP C C T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d X 9716674 9716674 C T SNP GPR143 ENST00000380929 human ensembl 69_37n -1 known missense c.548 p.G183D 1.000 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 93 0 0.00 70 45 39.13 - - - HRH2 0 genome.wustl.edu 37 5 175110783 175110783 + Missense_Mutation SNP G G A TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 5 175110783 175110783 G A SNP HRH2 ENST00000377291 human ensembl 69_37n +1 known missense c.547 p.G183R 0.990 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,prints_7TM_GPCR_Rhodpsn,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors HRH2 HGNC ENSG00000113749 220 1 0.45 115 73 38.62 - - - MAGEL2 0 genome.wustl.edu 37 15 23890165 23890165 + Nonsense_Mutation SNP G G A TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 15 23890165 23890165 G A SNP MAGEL2 ENST00000532292 human ensembl 69_37n -1 known nonsense c.916 p.Q306* 0.780 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 52 0 0.00 24 14 35.90 - - - MLL3 0 genome.wustl.edu 37 7 151877053 151877054 + Frame_Shift_Ins INS - - G TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 7 151877053 151877054 - G INS MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_ins c.7308_7307 p.P2437fs 0.334:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 74 0 0.00 244 125 33.88 - - - MYEF2 0 genome.wustl.edu 37 15 48441260 48441260 + Nonsense_Mutation SNP C C T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 15 48441260 48441260 C T SNP MYEF2 ENST00000324324 human ensembl 69_37n -1 known nonsense c.1608 p.W536* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 223 0 0.00 362 194 34.89 - - - MYO7A 0 genome.wustl.edu 37 11 76910861 76910861 + Missense_Mutation SNP C C A TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 11 76910861 76910861 C A SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known missense c.4850 p.P1617H 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 27 0 0.00 22 14 37.84 - - - NOS1AP 0 genome.wustl.edu 37 1 162337159 162337159 + Missense_Mutation SNP G G A TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 1 162337159 162337159 G A SNP NOS1AP ENST00000361897 human ensembl 69_37n +1 known missense c.1423 p.E475K 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors NOS1AP HGNC ENSG00000198929 21 0 0.00 24 5 17.24 - - - NYAP1 0 genome.wustl.edu 37 7 100087051 100087052 + Frame_Shift_Ins INS - - G TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 7 100087051 100087052 - G INS NYAP1 ENST00000423930 human ensembl 69_37n +1 known frame_shift_ins c.1707_1708 p.V571fs 0.997:1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 10 0 0.00 2 3 60.00 - - - PCDH10 0 genome.wustl.edu 37 4 134071967 134071968 + Frame_Shift_Ins INS - - C TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 4 134071967 134071968 - C INS PCDH10 ENST00000264360 human ensembl 69_37n +1 known frame_shift_ins c.672_673 p.Q226fs 0.999:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 27 0 0.00 19 5 20.83 - - - PCDHA11 0 genome.wustl.edu 37 5 140248828 140248828 + Missense_Mutation SNP G G A TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 5 140248828 140248828 G A SNP PCDHA11 ENST00000398640 human ensembl 69_37n +1 known missense c.140 p.R47H 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 20 0 0.00 12 15 55.56 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047L 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 80 0 0.00 104 63 37.72 - - - PLCB4 0 genome.wustl.edu 37 20 9401989 9401989 + Missense_Mutation SNP G G A TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 20 9401989 9401989 G A SNP PLCB4 ENST00000334005 human ensembl 69_37n +1 known missense c.2164 p.V722I 1.000 pirsf_PLC-beta,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 52 0 0.00 99 53 34.87 - - - PPP1R13B 0 genome.wustl.edu 37 14 104224078 104224078 + Missense_Mutation SNP G G T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 14 104224078 104224078 G T SNP PPP1R13B ENST00000202556 human ensembl 69_37n -1 known missense c.365 p.P122Q 0.997 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 135 0 0.00 159 75 32.05 - - - PRKAG2 0 genome.wustl.edu 37 7 151257608 151257609 + Splice_Site DEL AC AC - TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 7 151257608 151257609 AC - DEL PRKAG2 ENST00000287878 human ensembl 69_37n -1 known splice_site_del c.1678+1_1678+1 e15+1 0.999:1.000 - - - no_errors PRKAG2 HGNC ENSG00000106617 123 0 0.00 182 302 62.01 - - - RCOR1 0 genome.wustl.edu 37 14 103167650 103167650 + Missense_Mutation SNP G G T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 14 103167650 103167650 G T SNP RCOR1 ENST00000262241 human ensembl 69_37n +1 known missense c.481 p.G161W 1.000 pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom - no_errors RCOR1 HGNC ENSG00000089902 324 0 0.00 542 270 33.25 - - - SETD1B 0 genome.wustl.edu 37 12 122242657 122242658 + Frame_Shift_Ins INS - - C TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 12 122242657 122242658 - C INS SETD1B ENST00000267197 human ensembl 69_37n +1 known frame_shift_ins c.14_15 p.H8fs 1.000:1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 19 0 0.00 35 5 12.50 - - - SGCZ 0 genome.wustl.edu 37 8 14412415 14412415 + Frame_Shift_Del DEL T T - TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 8 14412415 14412415 T - DEL SGCZ ENST00000382080 human ensembl 69_37n -1 known frame_shift_del c.60 p.L21fs 0.953 NULL pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 277 0 0.00 591 289 32.51 - - - SMYD3 0 genome.wustl.edu 37 1 245912935 245912935 + Missense_Mutation SNP C C T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 1 245912935 245912935 C T SNP SMYD3 ENST00000388985 human ensembl 69_37n -1 known missense c.1217 p.R406K 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 90 0 0.00 463 82 15.05 - - - TPP1 0 genome.wustl.edu 37 11 6638532 6638532 + Missense_Mutation SNP C C T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 11 6638532 6638532 C T SNP TPP1 ENST00000299427 human ensembl 69_37n -1 known missense c.508 p.V170M 1.000 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 63 0 0.00 76 51 40.16 - - - UBAP1L 0 genome.wustl.edu 37 15 65392012 65392013 + Frame_Shift_Ins INS - - C TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 15 65392012 65392013 - C INS UBAP1L ENST00000502113 human ensembl 69_37n -1 known frame_shift_ins c.740_739 p.A247fs 0.006:0.000 superfamily_UBA-like superfamily_UBA-like - no_errors UBAP1L HGNC ENSG00000246922 14 0 0.00 17 4 19.05 - - - XIRP2 0 genome.wustl.edu 37 2 168115850 168115850 + Missense_Mutation SNP A A T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 2 168115850 168115850 A T SNP XIRP2 ENST00000420519 human ensembl 69_37n +1 known missense c.2893 p.R965W 0.989 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 38 0 0.00 44 38 46.34 - - - ZMAT5 0 genome.wustl.edu 37 22 30136653 30136653 + Missense_Mutation SNP C C A TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 22 30136653 30136653 C A SNP ZMAT5 ENST00000344318 human ensembl 69_37n -1 known missense c.257 p.S86I 0.617 NULL pfam_Znf_CCCH,pfam_Znf_U1-C,smart_Znf_CCCH - no_errors ZMAT5 HGNC ENSG00000100319 92 0 0.00 93 19 16.96 - - - ZNF70 0 genome.wustl.edu 37 22 24086804 24086804 + Missense_Mutation SNP T T C TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0e01c6b8-9edd-4965-b247-ee7e68124f48 475ab163-650e-4139-b373-13cebd7a3f7d 22 24086804 24086804 T C SNP ZNF70 ENST00000341976 human ensembl 69_37n -1 known missense c.524 p.K175R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 318 0 0.00 332 168 33.60 - - -