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 AATK 0 genome.wustl.edu 37 17 79094046 79094048 + In_Frame_Del DEL CTT CTT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 17 79094046 79094048 CTT - DEL AATK ENST00000326724 human ensembl 69_37n -1 known in_frame_del c.3690_3688 p.K1230in_frame_del 0.995:1.000:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 19 0 0.00 30 5 13.89 - - - ADCY1 0 genome.wustl.edu 37 7 45753497 45753497 + Missense_Mutation SNP C C T TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 7 45753497 45753497 C T SNP ADCY1 ENST00000297323 human ensembl 69_37n +1 known missense c.3263 p.P1088L 0.982 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 53 0 0.00 39 31 44.29 - - - BRIX1 0 genome.wustl.edu 37 5 34925580 34925580 + Missense_Mutation SNP G G T TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 5 34925580 34925580 G T SNP BRIX1 ENST00000336767 human ensembl 69_37n +1 known missense c.1042 p.D348Y 0.706 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors BRIX1 HGNC ENSG00000113460 54 0 0.00 62 22 26.19 - - - C3orf38 0 genome.wustl.edu 37 3 88205221 88205223 + In_Frame_Del DEL AGA AGA - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 3 88205221 88205223 AGA - DEL C3orf38 ENST00000318887 human ensembl 69_37n +1 known in_frame_del c.426_428 p.E144in_frame_del 0.918:0.917:0.998 NULL NULL - no_errors C3orf38 HGNC ENSG00000179021 99 0 0.00 78 29 27.10 - - - COL4A3BP 0 genome.wustl.edu 37 5 74706907 74706909 + In_Frame_Del DEL TTC TTC - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 5 74706907 74706909 TTC - DEL COL4A3BP ENST00000380494 human ensembl 69_37n -1 known in_frame_del c.1243_1241 p.R414in_frame_del 0.011:0.227:1.000 NULL pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC ENSG00000113163 220 0 0.00 217 58 20.79 - - - CRYZL1 0 genome.wustl.edu 37 21 34968081 34968081 + Missense_Mutation SNP T T C TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 21 34968081 34968081 T C SNP CRYZL1 ENST00000381554 human ensembl 69_37n -1 known missense c.860 p.D287G 1.000 smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC ENSG00000205758 144 0 0.00 137 45 24.73 - - - CYP3A4 0 genome.wustl.edu 37 7 99358590 99358592 + In_Frame_Del DEL TTC TTC - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 7 99358590 99358592 TTC - DEL CYP3A4 ENST00000336411 human ensembl 69_37n -1 known in_frame_del c.1268_1266 p.K422in_frame_del 1.000:1.000:0.994 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 606 0 0.00 473 133 21.95 - - - CYP3A7 0 genome.wustl.edu 37 7 99306769 99306769 + Missense_Mutation SNP A A G TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 7 99306769 99306769 A G SNP CYP3A7 ENST00000336374 human ensembl 69_37n -1 known missense c.1142 p.V381A 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 421 1 0.24 415 65 13.51 - - - DBX1 0 genome.wustl.edu 37 11 20177994 20177994 + Silent SNP G G A TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 11 20177994 20177994 G A SNP DBX1 ENST00000227256 human ensembl 69_37n -1 known silent c.915 p.S305 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors DBX1 HGNC ENSG00000109851 19 0 0.00 22 13 37.14 - - - DLG1 0 genome.wustl.edu 37 3 196846394 196846396 + In_Frame_Del DEL AGA AGA - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 3 196846394 196846396 AGA - DEL DLG1 ENST00000346964 human ensembl 69_37n -1 known in_frame_del c.1272_1270 p.S424in_frame_del 1.000:1.000:1.000 pfam_PDZ_assoc,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 85 0 0.00 78 19 19.59 - - - DNAJA4 0 genome.wustl.edu 37 15 78572663 78572666 + Frame_Shift_Del DEL AAGT AAGT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 15 78572663 78572666 AAGT - DEL DNAJA4 ENST00000394855 human ensembl 69_37n +1 known frame_shift_del c.1142_1145 p.K381fs 0.974:0.121:0.117:0.114 NULL pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA4 HGNC ENSG00000140403 73 0 0.00 54 22 27.16 - - - DND1 0 genome.wustl.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 5 140052285 140052285 T - DEL DND1 ENST00000542735 human ensembl 69_37n -1 known frame_shift_del c.349 p.T117fs 0.986 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 8 0 0.00 16 3 15.00 - - - ENTPD2 0 genome.wustl.edu 37 9 139943179 139943179 + Missense_Mutation SNP G G A TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 9 139943179 139943179 G A SNP ENTPD2 ENST00000355097 human ensembl 69_37n -1 known missense c.1418 p.S473F 0.001 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 16 0 0.00 12 5 29.41 - - - EPM2AIP1 0 genome.wustl.edu 37 3 37033943 37033945 + In_Frame_Del DEL AGA AGA - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 3 37033943 37033945 AGA - DEL EPM2AIP1 ENST00000322716 human ensembl 69_37n -1 known in_frame_del c.626_624 p.L209in_frame_del 1.000:0.898:0.245 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 30 0 0.00 41 13 24.07 - - - GOLGA2P5 0 genome.wustl.edu 37 12 100562921 100562921 + RNA DEL T T - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 12 100562921 100562921 T - DEL GOLGA2P5 ENST00000421840 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2P5 HGNC ENSG00000238105 29 0 0.00 27 8 22.86 - - - KAT6B 0 genome.wustl.edu 37 10 76781825 76781827 + In_Frame_Del DEL GAA GAA - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 10 76781825 76781827 GAA - DEL KAT6B ENST00000287239 human ensembl 69_37n +1 known in_frame_del c.3208_3210 p.E1073in_frame_del 1.000:1.000:0.978 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 59 0 0.00 47 10 17.54 - - - KBTBD8 0 genome.wustl.edu 37 3 67058478 67058480 + In_Frame_Del DEL ATC ATC - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 3 67058478 67058480 ATC - DEL KBTBD8 ENST00000417314 human ensembl 69_37n +1 known in_frame_del c.1475_1477 p.H493in_frame_del 1.000:1.000:1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,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 KBTBD8 HGNC ENSG00000163376 107 0 0.00 91 35 27.78 - - - LEPRE1 0 genome.wustl.edu 37 1 43212402 43212403 + Frame_Shift_Del DEL GA GA - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 1 43212402 43212403 GA - DEL LEPRE1 ENST00000296388 human ensembl 69_37n -1 known frame_shift_del c.2177_2176 p.S726fs 0.001:0.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 94 0 0.00 128 40 23.81 - - - LPXN 0 genome.wustl.edu 37 11 58345493 58345493 + Silent SNP G G A TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 11 58345493 58345493 G A SNP LPXN ENST00000528954 human ensembl 69_37n -1 known silent c.27 p.S9 0.000 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 28 0 0.00 26 16 38.10 - - - MYO3B 0 genome.wustl.edu 37 2 171240240 171240240 + Silent SNP G G A TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 2 171240240 171240240 G A SNP MYO3B ENST00000334231 human ensembl 69_37n +1 known silent c.1233 p.G411 0.982 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 194 0 0.00 190 57 23.08 - - - NUDT18 0 genome.wustl.edu 37 8 21965179 21965182 + Frame_Shift_Del DEL CTGT CTGT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 8 21965179 21965182 CTGT - DEL NUDT18 ENST00000309188 human ensembl 69_37n -1 known frame_shift_del c.604_601 p.T201fs 0.328:0.160:0.808:0.980 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT18 HGNC ENSG00000173566 100 0 0.00 94 32 25.40 - - - PASD1 0 genome.wustl.edu 37 X 150832809 150832809 + Missense_Mutation SNP G G A TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a X 150832809 150832809 G A SNP PASD1 ENST00000370357 human ensembl 69_37n +1 known missense c.1060 p.A354T 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 75 0 0.00 73 38 34.23 - - - PHLDB3 0 genome.wustl.edu 37 19 44008096 44008098 + In_Frame_Del DEL CTT CTT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 19 44008096 44008098 CTT - DEL PHLDB3 ENST00000292140 human ensembl 69_37n -1 known in_frame_del c.175_173 p.E58in_frame_del 1.000:0.998:1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 102 0 0.00 102 42 29.17 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 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 63 0 0.00 67 27 28.42 - - - PRDM2 0 genome.wustl.edu 37 1 14107659 14107661 + In_Frame_Del DEL TGT TGT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 1 14107659 14107661 TGT - DEL PRDM2 ENST00000235372 human ensembl 69_37n +1 known in_frame_del c.3369_3371 p.V1126in_frame_del 0.597:0.363:0.092 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 130 0 0.00 109 40 26.67 - - - RIPK4 0 genome.wustl.edu 37 21 43187137 43187137 + Missense_Mutation SNP A A T TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 21 43187137 43187137 A T SNP RIPK4 ENST00000352483 human ensembl 69_37n -1 known missense c.65 p.F22Y 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 18 0 0.00 16 6 27.27 - - - ROGDI 0 genome.wustl.edu 37 16 4852446 4852448 + In_Frame_Del DEL CTC CTC - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 16 4852446 4852448 CTC - DEL ROGDI ENST00000322048 human ensembl 69_37n -1 known in_frame_del c.54_52 p.E18in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors ROGDI HGNC ENSG00000067836 8 0 0.00 18 5 21.74 - - - RTN4 0 genome.wustl.edu 37 2 55214698 55214699 + Frame_Shift_Del DEL CA CA - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 2 55214698 55214699 CA - DEL RTN4 ENST00000337526 human ensembl 69_37n -1 known frame_shift_del c.3150_3149 p.V1050fs 1.000:1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 147 0 0.00 148 51 25.50 - - - SEMA4F 0 genome.wustl.edu 37 2 74900877 74900879 + In_Frame_Del DEL CTT CTT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 2 74900877 74900879 CTT - DEL SEMA4F ENST00000357877 human ensembl 69_37n +1 known in_frame_del c.744_746 p.F251in_frame_del 1.000:1.000:1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC ENSG00000135622 44 0 0.00 66 21 24.14 - - - SLC35E3 0 genome.wustl.edu 37 12 69140514 69140516 + In_Frame_Del DEL CTT CTT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 12 69140514 69140516 CTT - DEL SLC35E3 ENST00000398004 human ensembl 69_37n +1 known in_frame_del c.357_359 p.F120in_frame_del 0.697:0.552:0.908 NULL pfam_DUF250,pfam_DMT - no_errors SLC35E3 HGNC ENSG00000175782 108 0 0.00 126 28 18.18 - - - SP3 0 genome.wustl.edu 37 2 174819671 174819674 + Frame_Shift_Del DEL TGTT TGTT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 2 174819671 174819674 TGTT - DEL SP3 ENST00000310015 human ensembl 69_37n -1 known frame_shift_del c.1569_1566 p.T523fs 1.000:1.000:1.000:1.000 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 88 0 0.00 99 23 18.85 - - - SPEN 0 genome.wustl.edu 37 1 16257842 16257842 + Frame_Shift_Del DEL C C - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 1 16257842 16257842 C - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.5107 p.P1704fs 0.001 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 48 0 0.00 65 8 10.81 - - - SQLE 0 genome.wustl.edu 37 8 126030304 126030306 + In_Frame_Del DEL TTC TTC - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 8 126030304 126030306 TTC - DEL SQLE ENST00000265896 human ensembl 69_37n +1 known in_frame_del c.1208_1210 p.L406in_frame_del 1.000:0.994:1.000 pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,prints_Rng_hydrolase-like pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 156 0 0.00 162 51 23.61 - - - SUZ12 0 genome.wustl.edu 37 17 30267462 30267465 + Frame_Shift_Del DEL CTTA CTTA - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CTTA CTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 17 30267462 30267465 CTTA - DEL SUZ12 ENST00000322652 human ensembl 69_37n +1 known frame_shift_del c.343_346 p.Y117fs 1.000:1.000:1.000:1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 57 0 0.00 71 10 12.20 - - - TAS2R3 0 genome.wustl.edu 37 7 141464672 141464674 + In_Frame_Del DEL CTT CTT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 7 141464672 141464674 CTT - DEL TAS2R3 ENST00000247879 human ensembl 69_37n +1 known in_frame_del c.714_716 p.F241in_frame_del 0.988:0.967:0.031 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 132 0 0.00 148 36 19.35 - - - TBL1XR1 0 genome.wustl.edu 37 3 176756187 176756189 + In_Frame_Del DEL TGT TGT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 3 176756187 176756189 TGT - DEL TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known in_frame_del c.961_959 p.N320in_frame_del 1.000:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL1XR1 HGNC ENSG00000177565 270 0 0.00 200 67 24.81 - - - TIA1 0 genome.wustl.edu 37 2 70475537 70475538 + Frame_Shift_Del DEL AG AG - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 2 70475537 70475538 AG - DEL TIA1 ENST00000433529 human ensembl 69_37n -1 known frame_shift_del c.26_25 p.L9fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 23 0 0.00 41 19 31.67 - - - TIMM23 0 genome.wustl.edu 37 10 51592555 51592555 + Missense_Mutation SNP T T C TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 10 51592555 51592555 T C SNP TIMM23 ENST00000444743 human ensembl 69_37n -1 known missense c.271 p.I91V 0.268 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TIMM23 HGNC ENSG00000138297 144 0 0.00 94 82 46.59 - - - TMEM87A 0 genome.wustl.edu 37 15 42529656 42529656 + Missense_Mutation SNP T T C TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 15 42529656 42529656 T C SNP TMEM87A ENST00000389834 human ensembl 69_37n -1 known missense c.842 p.Q281R 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 166 0 0.00 134 62 31.47 - - - TTC7B 0 genome.wustl.edu 37 14 91007788 91007788 + Missense_Mutation SNP T T G TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 14 91007788 91007788 T G SNP TTC7B ENST00000357056 human ensembl 69_37n -1 known missense c.2507 p.E836A 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 33 0 0.00 20 8 28.57 - - - TTC7B 0 genome.wustl.edu 37 14 91007891 91007891 + Missense_Mutation SNP T T G TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 14 91007891 91007891 T G SNP TTC7B ENST00000357056 human ensembl 69_37n -1 known missense c.2404 p.K802Q 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 33 0 0.00 29 13 30.95 - - - TTN 0 genome.wustl.edu 37 2 179442017 179442017 + Silent SNP C C T TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 2 179442017 179442017 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.61341 p.A20447 0.909 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 197 0 0.00 158 65 29.02 - - - WDR47 0 genome.wustl.edu 37 1 109525305 109525305 + Missense_Mutation SNP C C T TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 1 109525305 109525305 C T SNP WDR47 ENST00000400794 human ensembl 69_37n -1 known missense c.2216 p.G739E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 97 0 0.00 58 38 39.58 - - - ZNF2 0 genome.wustl.edu 37 2 95847302 95847302 + Silent SNP G G A TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 2 95847302 95847302 G A SNP ZNF2 ENST00000340539 human ensembl 69_37n +1 known silent c.729 p.S243 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF2 HGNC ENSG00000163067 111 0 0.00 93 43 31.62 - - - ZNF300 0 genome.wustl.edu 37 5 150275009 150275009 + Missense_Mutation SNP T T A TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 5 150275009 150275009 T A SNP ZNF300 ENST00000446148 human ensembl 69_37n -1 known missense c.1840 p.I614F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF300 HGNC ENSG00000145908 110 0 0.00 102 52 33.77 - - - ZNF518B 0 genome.wustl.edu 37 4 10445214 10445214 + Missense_Mutation SNP A A C TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f1853c2-6579-42d0-adc2-636b5de543e4 07d07a8a-5565-4f85-9de7-dd082bc2802a 4 10445214 10445214 A C SNP ZNF518B ENST00000326756 human ensembl 69_37n -1 known missense c.2739 p.D913E 0.113 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 72 0 0.00 81 34 29.57 - - -