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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABCC8 6833 genome.wustl.edu 37 11 17419331 17419331 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 11 17419331 17419331 G A SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known missense c.3770 p.A1257V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 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 ALOXE3 59344 genome.wustl.edu 37 17 8013799 8013799 + Frame_Shift_Del DEL G G - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 8013799 8013799 G - DEL ALOXE3 ENST00000318227 human ensembl 70_37 -1 known frame_shift_del c.1401 p.T468fs 0.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ANKLE1 126549 genome.wustl.edu 37 19 17397495 17397495 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 17397495 17397495 G T SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative missense c.1765 p.V589L 0.072 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ANKRD20A4 728747 genome.wustl.edu 37 9 69421905 69421905 + Frame_Shift_Del DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 9 69421905 69421905 A - DEL ANKRD20A4 ENST00000357336 human ensembl 70_37 +1 known frame_shift_del c.1369 p.N459fs 0.373 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ARR3 407 genome.wustl.edu 37 X 69497631 69497632 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe X 69497631 69497632 - A INS ARR3 ENST00000307959 human ensembl 70_37 +1 known frame_shift_ins c.675_676 p.I227fs 0.996:1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC B3GNT5 84002 genome.wustl.edu 37 3 182987673 182987674 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 182987673 182987674 - T INS B3GNT5 ENST00000326505 human ensembl 70_37 +1 known frame_shift_ins c.87_88 p.W31fs 1.000:0.912 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC BAI1 575 genome.wustl.edu 37 8 143558803 143558803 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 8 143558803 143558803 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.1280 p.R427H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC BCLAF1 9774 genome.wustl.edu 37 6 136599059 136599059 + Silent SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 136599059 136599059 C T SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known silent c.960 p.S320 0.934 NULL NULL - no_errors BCLAF1 HGNC C17orf70 80233 genome.wustl.edu 37 17 79507882 79507882 + Missense_Mutation SNP T T C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 79507882 79507882 T C SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.2609 p.Y870C 0.968 NULL NULL - no_errors C17orf70 HGNC C3orf49 132200 genome.wustl.edu 37 3 63816799 63816800 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 63816799 63816800 - A INS C3orf49 ENST00000295896 human ensembl 70_37 +1 known frame_shift_ins c.584_585 p.R198fs 0.982:0.981 NULL NULL - no_errors C3orf49 HGNC C5orf54 63920 genome.wustl.edu 37 5 159820772 159820773 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 159820772 159820773 - T INS C5orf54 ENST00000408953 human ensembl 70_37 -1 known frame_shift_ins c.1726_1725 p.V575fs 1.000:1.000 NULL superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC CCDC74A 90557 genome.wustl.edu 37 2 132288203 132288203 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 2 132288203 132288203 G A SNP CCDC74A ENST00000295171 human ensembl 70_37 +1 known missense c.347 p.R116H 0.000 NULL NULL - no_errors CCDC74A HGNC CCDC74B 91409 genome.wustl.edu 37 2 130899903 130899903 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 2 130899903 130899903 C T SNP CCDC74B ENST00000392984 human ensembl 70_37 -1 known missense c.653 p.R218H 0.001 NULL NULL - no_errors CCDC74B HGNC CDK5RAP1 51654 genome.wustl.edu 37 20 31984665 31984665 + Nonsense_Mutation SNP A A T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 20 31984665 31984665 A T SNP CDK5RAP1 ENST00000357886 human ensembl 70_37 -1 known nonsense c.206 p.L69* 1.000 NULL pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC CHD7 55636 genome.wustl.edu 37 8 61769043 61769043 + Missense_Mutation SNP A A G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 8 61769043 61769043 A G SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.7204 p.R2402G 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHD8 57680 genome.wustl.edu 37 14 21897286 21897287 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 14 21897286 21897287 - T INS CHD8 ENST00000399982 human ensembl 70_37 -1 known frame_shift_ins c.1052_1051 p.I351fs 1.000:0.998 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC CLASRP 11129 genome.wustl.edu 37 19 45570740 45570745 + In_Frame_Del DEL AGCCAG AGCCAG - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 AGCCAG AGCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 45570740 45570745 AGCCAG - DEL CLASRP ENST00000221455 human ensembl 70_37 +1 known in_frame_del c.1555_1560 p.QS520in_frame_del 0.016:0.023:0.005:0.002:0.000:0.001 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC CLCC1 23155 genome.wustl.edu 37 1 109479990 109479990 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 109479990 109479990 G A SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known silent c.1092 p.G364 0.032 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC CLCNKA 1187 genome.wustl.edu 37 1 16356551 16356552 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 16356551 16356552 - G INS CLCNKA ENST00000331433 human ensembl 70_37 +1 known frame_shift_ins c.1389_1390 p.Y465fs 0.169:0.840 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC CNNM1 26507 genome.wustl.edu 37 10 101089223 101089223 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 10 101089223 101089223 C T SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known missense c.79 p.L27F 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC COG5 10466 genome.wustl.edu 37 7 107167783 107167783 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 7 107167783 107167783 C T SNP COG5 ENST00000297135 human ensembl 70_37 -1 known missense c.530 p.R177Q 1.000 pfam_COG_su5 pfam_COG_su5,pfam_Vps51 - no_errors COG5 HGNC CPSF1 29894 genome.wustl.edu 37 8 145625874 145625874 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 8 145625874 145625874 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.700 p.R234W 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CRB1 23418 genome.wustl.edu 37 1 197313486 197313487 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 197313486 197313487 - G INS CRB1 ENST00000367400 human ensembl 70_37 +1 known frame_shift_ins c.728_729 p.A245fs 0.000:0.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC CRTAC1 55118 genome.wustl.edu 37 10 99625445 99625445 + Frame_Shift_Del DEL G G - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 10 99625445 99625445 G - DEL CRTAC1 ENST00000370597 human ensembl 70_37 -1 known frame_shift_del c.1846 p.R616fs 0.838 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd - no_errors CRTAC1 HGNC DAAM2 23500 genome.wustl.edu 37 6 39846355 39846355 + Silent SNP T T C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 39846355 39846355 T C SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known silent c.1536 p.S512 0.983 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC DDX60L 91351 genome.wustl.edu 37 4 169317264 169317264 + Frame_Shift_Del DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 169317264 169317264 T - DEL DDX60L ENST00000260184 human ensembl 70_37 -1 known frame_shift_del c.3503 p.N1168fs 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC DLGAP3 58512 genome.wustl.edu 37 1 35370731 35370731 + Frame_Shift_Del DEL C C - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 35370731 35370731 C - DEL DLGAP3 ENST00000235180 human ensembl 70_37 -1 known frame_shift_del c.254 p.G85fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC DYNC1LI1 51143 genome.wustl.edu 37 3 32571049 32571050 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 32571049 32571050 - T INS DYNC1LI1 ENST00000273130 human ensembl 70_37 -1 known frame_shift_ins c.1289_1288 p.I430fs 1.000:1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain - no_errors DYNC1LI1 HGNC ENAH 55740 genome.wustl.edu 37 1 225702424 225702424 + Silent SNP A A T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 225702424 225702424 A T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known silent c.1092 p.P364 0.036 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000231364 0 genome.wustl.edu 37 1 83912273 83912273 + RNA DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 83912273 83912273 A - DEL ENSG00000231364 ENST00000446227 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-413G15.1 Clone_based_vega_gene ENSG00000249428 0 genome.wustl.edu 37 4 2461960 2461961 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 2461960 2461961 - G INS ENSG00000249428 ENST00000506607 human ensembl 70_37 +1 putative frame_shift_ins c.887_888 p.A297fs 0.856:0.018 NULL NULL - no_errors RP11-503N18.3 Clone_based_vega_gene ENSG00000258367 0 genome.wustl.edu 37 14 19339542 19339542 + RNA DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 14 19339542 19339542 A - DEL ENSG00000258367 ENST00000550098 human ensembl 70_37 +1 known rna NULL NULL 0.951 - - - no_errors RP11-536C10.3 Clone_based_vega_gene ENSG00000259176 0 genome.wustl.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 15 22332412 22332413 - A INS ENSG00000259176 ENST00000558896 human ensembl 70_37 +1 known rna NULL NULL 0.686:0.693 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENTHD2 146705 genome.wustl.edu 37 17 79202813 79202813 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 79202813 79202813 C T SNP ENTHD2 ENST00000300714 human ensembl 70_37 -1 known missense c.1493 p.R498H 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC EPN1 29924 genome.wustl.edu 37 19 56206237 56206237 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 56206237 56206237 G A SNP EPN1 ENST00000411543 human ensembl 70_37 +1 known silent c.1668 p.T556 0.168 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC FAF1 11124 genome.wustl.edu 37 1 50956315 50956316 + Frame_Shift_Ins INS - - TC TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 50956315 50956316 - TC INS FAF1 ENST00000371778 human ensembl 70_37 -1 known frame_shift_ins c.1598_1597 p.M533fs 1.000:1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC FAM186A 121006 genome.wustl.edu 37 12 50747820 50747821 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 12 50747820 50747821 - T INS FAM186A ENST00000327337 human ensembl 70_37 -1 known frame_shift_ins c.2795_2794 p.M932fs 0.110:0.106 NULL NULL - no_errors FAM186A HGNC FBXO11 80204 genome.wustl.edu 37 2 48061746 48061747 + Frame_Shift_Ins INS - - AT TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 2 48061746 48061747 - AT INS FBXO11 ENST00000403359 human ensembl 70_37 -1 known frame_shift_ins c.906_905 p.E303fs 1.000:1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC FLRT1 23769 genome.wustl.edu 37 11 63885113 63885113 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 11 63885113 63885113 G A SNP FLRT1 ENST00000246841 human ensembl 70_37 +1 known silent c.1374 p.T458 0.002 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC FMNL1 752 genome.wustl.edu 37 17 43323080 43323080 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 43323080 43323080 C T SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.2974 p.R992C 0.991 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC FSCN2 25794 genome.wustl.edu 37 17 79495811 79495811 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 79495811 79495811 G A SNP FSCN2 ENST00000334850 human ensembl 70_37 +1 known missense c.254 p.G85D 0.507 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN2 HGNC GINS1 9837 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 70_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC HECA 51696 genome.wustl.edu 37 6 139487874 139487874 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 139487874 139487874 G A SNP HECA ENST00000367658 human ensembl 70_37 +1 known missense c.725 p.R242Q 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC HEPH 9843 genome.wustl.edu 37 X 65486413 65486414 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe X 65486413 65486414 - T INS HEPH ENST00000519389 human ensembl 70_37 +1 known frame_shift_ins c.3538_3539 p.G1181fs 0.405:0.385 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC HIVEP1 3096 genome.wustl.edu 37 6 12123569 12123570 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 12123569 12123570 - A INS HIVEP1 ENST00000379388 human ensembl 70_37 +1 known frame_shift_ins c.3541_3542 p.E1182fs 0.115:0.057 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC IL4I1 259307 genome.wustl.edu 37 19 50398358 50398359 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 50398358 50398359 - C INS IL4I1 ENST00000341114 human ensembl 70_37 -1 known frame_shift_ins c.398_397 p.E133fs 0.998:0.995 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC INTS12 57117 genome.wustl.edu 37 4 106616790 106616791 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 106616790 106616791 - T INS INTS12 ENST00000340139 human ensembl 70_37 -1 known frame_shift_ins c.192_191 p.N64fs 0.008:0.124 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC IRX4 50805 genome.wustl.edu 37 5 1882016 1882016 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 1882016 1882016 G A SNP IRX4 ENST00000231357 human ensembl 70_37 -1 known missense c.203 p.A68V 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC KCNG1 3755 genome.wustl.edu 37 20 49621098 49621098 + Silent SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 20 49621098 49621098 C T SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known silent c.1020 p.L340 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC LILRB1 10859 genome.wustl.edu 37 19 55146728 55146728 + Missense_Mutation SNP T T C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 55146728 55146728 T C SNP LILRB1 ENST00000421584 human ensembl 70_37 +1 known missense c.1502 p.M501T 0.001 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRB1 HGNC LOC653160 653160 genome.wustl.edu 37 1 35442664 35442664 + RNA SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 35442664 35442664 G A SNP LOC653160 ENST00000311990 human ensembl 70_37 -1 known rna NULL NULL 0.653 - - - no_errors RP11-244H3.1 Clone_based_vega_gene LOC729444 729444 genome.wustl.edu 37 22 20342086 20342086 + RNA SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 22 20342086 20342086 G A SNP LOC729444 ENST00000454636 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene LRP5 4041 genome.wustl.edu 37 11 68201306 68201306 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 11 68201306 68201306 G T SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.4000 p.A1334S 0.959 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC LTBR 4055 genome.wustl.edu 37 12 6499901 6499902 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 12 6499901 6499902 - G INS LTBR ENST00000228918 human ensembl 70_37 +1 known frame_shift_ins c.1106_1107 p.P372fs 0.411:0.497 pirsf_TNFR_3_LTBR pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR - no_errors LTBR HGNC MAP1S 55201 genome.wustl.edu 37 19 17836950 17836950 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 17836950 17836950 G A SNP MAP1S ENST00000324096 human ensembl 70_37 +1 known missense c.757 p.A253T 0.752 NULL NULL - no_errors MAP1S HGNC MKL2 57496 genome.wustl.edu 37 16 14346300 14346300 + Frame_Shift_Del DEL C C - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 14346300 14346300 C - DEL MKL2 ENST00000341243 human ensembl 70_37 +1 known frame_shift_del c.2611 p.R873fs 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC MSH5 4439 genome.wustl.edu 37 6 31729722 31729722 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 31729722 31729722 G A SNP MSH5 ENST00000375742 human ensembl 70_37 +1 known missense c.2360 p.R787H 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC MTHFR 4524 genome.wustl.edu 37 1 11854494 11854495 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 11854494 11854495 - C INS MTHFR ENST00000376583 human ensembl 70_37 -1 known frame_shift_ins c.1391_1390 p.E464fs 1.000:1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC MYH7B 57644 genome.wustl.edu 37 20 33588263 33588263 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 20 33588263 33588263 C T SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.5075 p.T1692M 0.905 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC NAA15 80155 genome.wustl.edu 37 4 140291445 140291445 + Frame_Shift_Del DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 140291445 140291445 A - DEL NAA15 ENST00000296543 human ensembl 70_37 +1 known frame_shift_del c.1834 p.N614fs 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NLRC3 197358 genome.wustl.edu 37 16 3613196 3613196 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 3613196 3613196 C T SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known missense c.1883 p.R628H 0.017 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC NOP14 8602 genome.wustl.edu 37 4 2939958 2939958 + Frame_Shift_Del DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 2939958 2939958 A - DEL NOP14 ENST00000398071 human ensembl 70_37 -1 known frame_shift_del c.2403 p.F801fs 0.010 NULL pfam_Nop14 - no_errors NOP14 HGNC PCNT 5116 genome.wustl.edu 37 21 47851552 47851552 + Missense_Mutation SNP A A G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 21 47851552 47851552 A G SNP PCNT ENST00000359568 human ensembl 70_37 +1 known missense c.8174 p.E2725G 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC PI4KA 5297 genome.wustl.edu 37 22 21065052 21065053 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 22 21065052 21065053 - C INS PI4KA ENST00000255882 human ensembl 70_37 -1 known frame_shift_ins c.6018_6017 p.K2007fs 1.000:1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC PPL 5493 genome.wustl.edu 37 16 4933425 4933425 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 4933425 4933425 G A SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.5231 p.S1744F 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPP6R2 9701 genome.wustl.edu 37 22 50877166 50877166 + Frame_Shift_Del DEL G G - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 22 50877166 50877166 G - DEL PPP6R2 ENST00000216061 human ensembl 70_37 +1 known frame_shift_del c.2103 p.P703fs 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC PRDM15 63977 genome.wustl.edu 37 21 43254644 43254645 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 21 43254644 43254645 - C INS PRDM15 ENST00000538201 human ensembl 70_37 -1 known frame_shift_ins c.1396_1395 p.P465fs 0.000:0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC PTENP1 11191 genome.wustl.edu 37 9 33674656 33674656 + RNA SNP T T C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 9 33674656 33674656 T C SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC RBM43 375287 genome.wustl.edu 37 2 152112048 152112048 + Frame_Shift_Del DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 2 152112048 152112048 T - DEL RBM43 ENST00000331426 human ensembl 70_37 -1 known frame_shift_del c.213 p.V72fs 0.948 pfscan_RRM_dom pfscan_RRM_dom - no_errors RBM43 HGNC RGS11 8786 genome.wustl.edu 37 16 321285 321285 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 321285 321285 G T SNP RGS11 ENST00000397770 human ensembl 70_37 -1 known missense c.779 p.P260H 0.060 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS11 HGNC RNF145 153830 genome.wustl.edu 37 5 158630642 158630643 + Frame_Shift_Del DEL TT TT - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 158630642 158630643 TT - DEL RNF145 ENST00000274542 human ensembl 70_37 -1 known frame_shift_del c.68_67 p.K23fs 0.000:0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC SDCCAG3 10807 genome.wustl.edu 37 9 139301724 139301724 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 9 139301724 139301724 G A SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known missense c.692 p.A231V 0.935 NULL NULL - no_errors SDCCAG3 HGNC SERPINI2 5276 genome.wustl.edu 37 3 167185055 167185055 + Missense_Mutation SNP A A G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 167185055 167185055 A G SNP SERPINI2 ENST00000264677 human ensembl 70_37 -1 known missense c.266 p.L89P 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC SLC16A11 162515 genome.wustl.edu 37 17 6945572 6945572 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 6945572 6945572 C T SNP SLC16A11 ENST00000308009 human ensembl 70_37 -1 known missense c.929 p.R310Q 0.968 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC SLC27A6 28965 genome.wustl.edu 37 5 128368800 128368800 + Missense_Mutation SNP A A G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 128368800 128368800 A G SNP SLC27A6 ENST00000262462 human ensembl 70_37 +1 known missense c.1685 p.E562G 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC SLC38A9 153129 genome.wustl.edu 37 5 55008363 55008363 + RNA SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 55008363 55008363 G T SNP SLC38A9 ENST00000504880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC38A9 HGNC SLITRK2 84631 genome.wustl.edu 37 X 144904117 144904118 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe X 144904117 144904118 - C INS SLITRK2 ENST00000370490 human ensembl 70_37 +1 known frame_shift_ins c.174_175 p.Q60fs 1.000:1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC SNRNP48 154007 genome.wustl.edu 37 6 7602865 7602865 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 7602865 7602865 G A SNP SNRNP48 ENST00000342415 human ensembl 70_37 +1 known missense c.605 p.R202Q 1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC SYNE2 23224 genome.wustl.edu 37 14 64427501 64427501 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 14 64427501 64427501 G T SNP SYNE2 ENST00000341472 human ensembl 70_37 +1 novel missense c.835 p.V279L 0.011 smart_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SYNE2 HGNC SYNJ2 8871 genome.wustl.edu 37 6 158492661 158492661 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 158492661 158492661 G A SNP SYNJ2 ENST00000355585 human ensembl 70_37 +1 known silent c.1968 p.T656 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC SYNJ2 8871 genome.wustl.edu 37 6 158508008 158508009 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 158508008 158508009 - C INS SYNJ2 ENST00000355585 human ensembl 70_37 +1 known frame_shift_ins c.3330_3331 p.P1113fs 1.000:1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC TADA3 10474 genome.wustl.edu 37 3 9831553 9831553 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 9831553 9831553 G T SNP TADA3 ENST00000301964 human ensembl 70_37 -1 known missense c.302 p.P101H 1.000 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC TAOK3 51347 genome.wustl.edu 37 12 118675938 118675938 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 12 118675938 118675938 G A SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known missense c.377 p.A126V 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 TAOK3 HGNC TAS2R1 50834 genome.wustl.edu 37 5 9630024 9630024 + Frame_Shift_Del DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 9630024 9630024 T - DEL TAS2R1 ENST00000382492 human ensembl 70_37 -1 known frame_shift_del c.121 p.M41fs 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC TCF25 22980 genome.wustl.edu 37 16 89971470 89971470 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 89971470 89971470 G A SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known missense c.1594 p.A532T 0.411 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC TM9SF2 9375 genome.wustl.edu 37 13 100181813 100181814 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 13 100181813 100181814 - A INS TM9SF2 ENST00000376387 human ensembl 70_37 +1 known frame_shift_ins c.426_427 p.S144fs 1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC TNXB 7148 genome.wustl.edu 37 6 32049424 32049424 + Frame_Shift_Del DEL G G - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 32049424 32049424 G - DEL TNXB ENST00000375247 human ensembl 70_37 -1 known frame_shift_del c.3763 p.R1255fs 0.009 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TP73 7161 genome.wustl.edu 37 1 3649571 3649571 + Silent SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 3649571 3649571 C T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known silent c.1839 p.G613 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TRAPPC8 22878 genome.wustl.edu 37 18 29522913 29522914 + Splice_Site INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 18 29522913 29522914 - C INS TRAPPC8 ENST00000582539 human ensembl 70_37 -1 putative splice_site_ins c.1+1_0 e0+1 0.002:0.006 - - - no_errors TRAPPC8 HGNC TRMT10A 93587 genome.wustl.edu 37 4 100480442 100480443 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 100480442 100480443 - T INS TRMT10A ENST00000273962 human ensembl 70_37 -1 known frame_shift_ins c.54_53 p.Q19fs 0.261:0.390 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC TSPEAR 54084 genome.wustl.edu 37 21 45987772 45987773 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 21 45987772 45987773 - G INS TSPEAR ENST00000323084 human ensembl 70_37 -1 known frame_shift_ins c.200_199 p.R67fs 0.067:0.978 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC TSSC4 10078 genome.wustl.edu 37 11 2424288 2424288 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 11 2424288 2424288 G A SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known missense c.425 p.R142Q 0.003 NULL NULL - no_errors TSSC4 HGNC TULP4 56995 genome.wustl.edu 37 6 158923715 158923715 + Frame_Shift_Del DEL C C - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 158923715 158923715 C - DEL TULP4 ENST00000367097 human ensembl 70_37 +1 known frame_shift_del c.3020 p.L1009fs 0.925 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC TBC1D31 93594 genome.wustl.edu 37 8 124140521 124140521 + Frame_Shift_Del DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 8 124140521 124140521 T - DEL WDR67 ENST00000287380 human ensembl 70_37 +1 known frame_shift_del c.1885 p.H632fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC WDR90 197335 genome.wustl.edu 37 16 707790 707790 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 707790 707790 G A SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel silent c.2502 p.A834 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC XRCC6 2547 genome.wustl.edu 37 22 42042909 42042910 + Frame_Shift_Ins INS - - AA TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 22 42042909 42042910 - AA INS XRCC6 ENST00000359308 human ensembl 70_37 +1 known frame_shift_ins c.783_784 p.L262fs 0.444:0.469 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,tigrfam_DNA_helicase_ATP-dep_Ku70 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70 - no_errors XRCC6 HGNC ZFHX3 463 genome.wustl.edu 37 16 72830806 72830807 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 72830806 72830807 - C INS ZFHX3 ENST00000268489 human ensembl 70_37 -1 known frame_shift_ins c.5775_5774 p.G1926fs 0.000:0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZNF440 126070 genome.wustl.edu 37 19 11942915 11942916 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 11942915 11942916 - A INS ZNF440 ENST00000304060 human ensembl 70_37 +1 known frame_shift_ins c.924_925 p.N309fs 0.999:1.000 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 ZNF440 HGNC ZNF527 84503 genome.wustl.edu 37 19 37879760 37879760 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 37879760 37879760 G A SNP ZNF527 ENST00000436120 human ensembl 70_37 +1 known missense c.809 p.G270E 0.730 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 ZNF527 HGNC ZSCAN20 7579 genome.wustl.edu 37 1 33960712 33960712 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 33960712 33960712 G A SNP ZSCAN20 ENST00000326544 human ensembl 70_37 +1 known missense c.2768 p.R923H 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC