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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABHD8 0 genome.wustl.edu 37 19 17405215 17405216 + Frame_Shift_Ins INS - - CGCT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 17405215 17405216 - CGCT INS ABHD8 ENST00000247706 human ensembl 74_37 -1 known frame_shift_ins c.1031_1030 p.G344fs 1.000:1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 tier1 141 0 0.00 51 24 32.00 ACSS1 0 genome.wustl.edu 37 20 25000721 25000723 + In_Frame_Del DEL CAG CAG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 25000721 25000723 CAG - DEL ACSS1 ENST00000323482 human ensembl 74_37 -1 known in_frame_del c.1171_1169 p.A390in_frame_del 0.000:0.000:0.995 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 tier1 175 0 0.00 77 15 16.30 ACSS1 0 genome.wustl.edu 37 20 25000725 25000725 + Silent SNP C C T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 25000725 25000725 C T SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known silent c.1167 p.T389 0.573 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 tier1 - - 181 0 0.00 77 18 18.95 ADRB2 0 genome.wustl.edu 37 5 148206398 148206401 + Frame_Shift_Del DEL GGGC GGGC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GGGC GGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 5 148206398 148206401 GGGC - DEL ADRB2 ENST00000305988 human ensembl 74_37 +1 known frame_shift_del c.4_7 p.G2fs 1.000:1.000:0.998:1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 tier1 94 0 0.00 50 19 27.54 ANK3 0 genome.wustl.edu 37 10 61946579 61946580 + Frame_Shift_Del DEL AC AC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 61946579 61946580 AC - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.1979_1978 p.V660fs 1.000:1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 116 0 0.00 59 22 27.16 ANK3 0 genome.wustl.edu 37 10 61946581 61946581 + Silent SNP T T G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 61946581 61946581 T G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.1977 p.A659 0.967 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 119 0 0.00 58 23 28.40 ANKRD35 0 genome.wustl.edu 37 1 145561465 145561466 + Frame_Shift_Ins INS - - TAAA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 145561465 145561466 - TAAA INS ANKRD35 ENST00000355594 human ensembl 74_37 +1 known frame_shift_ins c.1153_1154 p.K386fs 0.938:0.934 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 ANKRD35 HGNC ENSG00000198483 tier1 43 0 0.00 18 5 21.74 AP5M1 0 genome.wustl.edu 37 14 57741180 57741180 + Missense_Mutation SNP C C G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 14 57741180 57741180 C G SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known missense c.293 p.A98G 0.999 NULL pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 tier1 - - 100 0 0.00 58 36 38.30 ARHGAP26 0 genome.wustl.edu 37 5 142258963 142258964 + Frame_Shift_Ins INS - - TCAC TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 5 142258963 142258964 - TCAC INS ARHGAP26 ENST00000274498 human ensembl 74_37 +1 known frame_shift_ins c.337_338 p.P115fs 1.000:1.000 pfam_IRSp53/MIM_homology_IMD pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP26 HGNC ENSG00000145819 tier1 173 0 0.00 56 30 34.88 ARHGEF7 0 genome.wustl.edu 37 13 111927980 111927980 + Silent SNP C C T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 13 111927980 111927980 C T SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known silent c.1437 p.N479 0.170 pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 tier1 - - 170 0 0.00 69 42 37.50 ATP2A3 0 genome.wustl.edu 37 17 3840892 3840892 + Frame_Shift_Del DEL T T - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 3840892 3840892 T - DEL ATP2A3 ENST00000359983 human ensembl 74_37 -1 known frame_shift_del c.2139 p.A714fs 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 tier1 52 0 0.00 16 2 11.11 ATRNL1 0 genome.wustl.edu 37 10 117059664 117059664 + Frame_Shift_Del DEL T T - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 117059664 117059664 T - DEL ATRNL1 ENST00000355044 human ensembl 74_37 +1 known frame_shift_del c.2536 p.C847fs 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 96 0 0.00 55 17 23.61 BACE2 0 genome.wustl.edu 37 21 42540433 42540436 + Frame_Shift_Del DEL AGAC AGAC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 AGAC AGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 21 42540433 42540436 AGAC - DEL BACE2 ENST00000330333 human ensembl 74_37 +1 known frame_shift_del c.243_246 p.D82fs 0.323:0.267:0.205:0.094 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 tier1 19 0 0.00 2 5 71.43 BEX4 0 genome.wustl.edu 37 X 102471125 102471125 + Frame_Shift_Del DEL A A - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec X 102471125 102471125 A - DEL BEX4 ENST00000372691 human ensembl 74_37 +1 known frame_shift_del c.44 p.N16fs 0.006 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX4 HGNC ENSG00000102409 tier1 36 0 0.00 28 2 6.67 BUD31 0 genome.wustl.edu 37 7 99013885 99013886 + Splice_Site INS - - A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 7 99013885 99013886 - A INS BUD31 ENST00000222969 human ensembl 74_37 +1 known splice_site_ins c.217+2_217+1 e2+2 1.000:0.973 - - - no_errors BUD31 HGNC ENSG00000106245 tier1 150 0 0.00 60 24 28.57 BZW2 0 genome.wustl.edu 37 7 16722403 16722403 + Splice_Site SNP A A T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 7 16722403 16722403 A T SNP BZW2 ENST00000258761 human ensembl 74_37 +1 known splice_site c.340-2 e4-2 1.000 - - - no_errors BZW2 HGNC ENSG00000136261 tier1 - - 80 0 0.00 78 5 5.95 C10orf67 0 genome.wustl.edu 37 10 23609699 23609699 + Frame_Shift_Del DEL C C - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 23609699 23609699 C - DEL C10orf67 ENST00000323327 human ensembl 74_37 -1 known frame_shift_del c.520 p.A174fs 1.000 NULL NULL - no_errors C10orf67 HGNC ENSG00000179133 tier1 28 0 0.00 9 4 30.77 C10orf90 0 genome.wustl.edu 37 10 128192785 128192786 + Frame_Shift_Ins INS - - T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 128192785 128192786 - T INS C10orf90 ENST00000544758 human ensembl 74_37 -1 known frame_shift_ins c.1275_1274 p.D426fs 0.000:0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 92 0 0.00 57 21 26.92 C1orf116 0 genome.wustl.edu 37 1 207196582 207196582 + Missense_Mutation SNP C C A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 207196582 207196582 C A SNP C1orf116 ENST00000359470 human ensembl 74_37 -1 known missense c.527 p.S176I 0.002 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 tier1 - - 107 0 0.00 57 32 35.56 CAPN2 0 genome.wustl.edu 37 1 223949912 223949915 + Frame_Shift_Del DEL GATG GATG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GATG GATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 223949912 223949915 GATG - DEL CAPN2 ENST00000295006 human ensembl 74_37 +1 known frame_shift_del c.1591_1594 p.D531fs 0.991:0.985:0.000:0.009 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 tier1 72 0 0.00 34 15 30.61 CCER1 0 genome.wustl.edu 37 12 91348280 91348280 + Frame_Shift_Del DEL G G - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 91348280 91348280 G - DEL CCER1 ENST00000358859 human ensembl 74_37 -1 known frame_shift_del c.240 p.V81fs 0.000 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 tier1 61 0 0.00 13 2 13.33 CCNG2 0 genome.wustl.edu 37 4 78081964 78081965 + Frame_Shift_Ins INS - - A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 4 78081964 78081965 - A INS CCNG2 ENST00000316355 human ensembl 74_37 +1 known frame_shift_ins c.367_368 p.H123fs 0.991:1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNG2 HGNC ENSG00000138764 tier1 144 0 0.00 100 41 29.08 CD97 0 genome.wustl.edu 37 19 14518008 14518009 + Frame_Shift_Ins INS - - CTCT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 14518008 14518009 - CTCT INS CD97 ENST00000242786 human ensembl 74_37 +1 known frame_shift_ins c.2343_2344 p.Y782fs 1.000:1.000 pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 tier1 154 0 0.00 58 17 22.67 CDC42BPA 0 genome.wustl.edu 37 1 227235703 227235704 + Frame_Shift_Ins INS - - TC TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 227235703 227235704 - TC INS CDC42BPA ENST00000334218 human ensembl 74_37 -1 known frame_shift_ins c.2913_2912 p.D971fs 0.150:0.988 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 117 0 0.00 81 47 36.72 CELSR3 0 genome.wustl.edu 37 3 48692548 48692549 + Frame_Shift_Ins INS - - ACGG TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 48692548 48692549 - ACGG INS CELSR3 ENST00000544264 human ensembl 74_37 -1 known frame_shift_ins c.4917_4916 p.A1640fs 0.996:0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 43 0 0.00 11 4 26.67 CENPF 0 genome.wustl.edu 37 1 214792555 214792555 + Nonsense_Mutation SNP C C T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 214792555 214792555 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known nonsense c.565 p.Q189* 1.000 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 - - 116 0 0.00 85 5 5.56 CEP164 0 genome.wustl.edu 37 11 117222658 117222658 + Missense_Mutation SNP A A G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 117222658 117222658 A G SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known missense c.347 p.K116R 1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 21 0 0.00 18 2 10.00 CFH 0 genome.wustl.edu 37 1 196709923 196709923 + Splice_Site SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 196709923 196709923 G A SNP CFH ENST00000367429 human ensembl 74_37 +1 known splice_site c.2956+1 e18+1 1.000 - - - no_errors CFH HGNC ENSG00000000971 tier1 - - 117 0 0.00 81 44 35.20 COL6A6 0 genome.wustl.edu 37 3 130282155 130282155 + Missense_Mutation SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 130282155 130282155 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.308 p.G103E 0.958 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 53 0 0.00 34 4 10.53 CPSF1 0 genome.wustl.edu 37 8 145623706 145623707 + Frame_Shift_Ins INS - - GGAT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 8 145623706 145623707 - GGAT INS CPSF1 ENST00000349769 human ensembl 74_37 -1 known frame_shift_ins c.1880_1879 p.R627fs 1.000:1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 122 0 0.00 58 22 27.50 CSHL1 0 genome.wustl.edu 37 17 61988596 61988596 + RNA SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 61988596 61988596 G A SNP CSHL1 ENST00000558099 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors CSHL1 HGNC ENSG00000204414 tier1 - - 103 0 0.00 45 19 29.69 CSMD1 0 genome.wustl.edu 37 8 3265464 3265465 + Frame_Shift_Del DEL AG AG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 8 3265464 3265465 AG - DEL CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_del c.2031_2030 p.S677fs 0.008:1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 28 0 0.00 16 2 11.11 CSNK2A2 0 genome.wustl.edu 37 16 58230656 58230657 + Frame_Shift_Ins INS - - CT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 58230656 58230657 - CT INS CSNK2A2 ENST00000262506 human ensembl 74_37 -1 known frame_shift_ins c.197_196 p.V66fs 1.000:1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A2 HGNC ENSG00000070770 tier1 294 0 0.00 190 60 24.00 CSTF2T 0 genome.wustl.edu 37 10 53457668 53457668 + Frame_Shift_Del DEL T T - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 53457668 53457668 T - DEL CSTF2T ENST00000331173 human ensembl 74_37 -1 known frame_shift_del c.1642 p.I548fs 0.988 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 tier1 26 0 0.00 8 8 50.00 CSTF2T 0 genome.wustl.edu 37 10 53457670 53457672 + In_Frame_Del DEL CCT CCT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 53457670 53457672 CCT - DEL CSTF2T ENST00000331173 human ensembl 74_37 -1 known in_frame_del c.1640_1638 p.G547in_frame_del 0.919:0.908:0.010 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 tier1 24 0 0.00 8 7 46.67 CTNNA2 0 genome.wustl.edu 37 2 80874749 80874749 + Silent SNP C C T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 80874749 80874749 C T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.2572 p.L858 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 148 0 0.00 99 41 29.29 DGCR6 0 genome.wustl.edu 37 22 18898534 18898535 + Frame_Shift_Ins INS - - C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 22 18898534 18898535 - C INS DGCR6 ENST00000331444 human ensembl 74_37 +1 known frame_shift_ins c.506_507 p.Q171fs 1.000:0.999 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC ENSG00000183628 tier1 12 0 0.00 2 2 50.00 DNTTIP1 0 genome.wustl.edu 37 20 44429743 44429744 + In_Frame_Ins INS - - TAA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 44429743 44429744 - TAA INS DNTTIP1 ENST00000372622 human ensembl 74_37 +1 known in_frame_ins c.403_404 p.137in_frame_insI 0.986:0.630 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 tier1 267 0 0.00 154 43 21.83 DUOX1 0 genome.wustl.edu 37 15 45440176 45440177 + Frame_Shift_Ins INS - - AGTT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 15 45440176 45440177 - AGTT INS DUOX1 ENST00000321429 human ensembl 74_37 +1 known frame_shift_ins c.2623_2624 p.F876fs 1.000:1.000 pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 186 0 0.00 84 19 18.45 E2F4 0 genome.wustl.edu 37 16 67228856 67228857 + Frame_Shift_Ins INS - - T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 67228856 67228857 - T INS E2F4 ENST00000379378 human ensembl 74_37 +1 known frame_shift_ins c.781_782 p.M261fs 0.123:0.120 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 tier1 53 0 0.00 13 10 43.48 ECH1 0 genome.wustl.edu 37 19 39308209 39308212 + Frame_Shift_Del DEL TCAA TCAA - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 TCAA TCAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 39308209 39308212 TCAA - DEL ECH1 ENST00000221418 human ensembl 74_37 -1 known frame_shift_del c.356_353 p.I118fs 1.000:1.000:0.759:0.996 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECH1 HGNC ENSG00000104823 tier1 33 0 0.00 13 10 43.48 ENSG00000255446 0 genome.wustl.edu 37 11 62189579 62189580 + RNA INS - - TG TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 62189579 62189580 - TG INS ENSG00000255446 ENST00000528983 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.007 - - - no_errors CTD-2531D15.4 Clone_based_vega_gene ENSG00000255446 tier1 8 0 0.00 5 2 28.57 ENSG00000257886 0 genome.wustl.edu 37 12 105467558 105467559 + RNA DEL CT CT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 105467558 105467559 CT - DEL ENSG00000257886 ENST00000547750 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-61E11.1 Clone_based_vega_gene ENSG00000257886 tier1 27 0 0.00 8 11 57.89 ENSG00000267462 0 genome.wustl.edu 37 18 57677733 57677733 + RNA SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 18 57677733 57677733 G A SNP ENSG00000267462 ENST00000585691 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 tier1 - - 15 0 0.00 7 5 41.67 EPS8L2 0 genome.wustl.edu 37 11 720187 720190 + Frame_Shift_Del DEL CGAC CGAC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CGAC CGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 720187 720190 CGAC - DEL EPS8L2 ENST00000318562 human ensembl 74_37 +1 known frame_shift_del c.291_294 p.D98fs 0.996:1.000:1.000:0.997 pfam_PTB,pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 tier1 64 0 0.00 24 4 14.29 ERBB3 0 genome.wustl.edu 37 12 56495820 56495821 + In_Frame_Ins INS - - TAA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 56495820 56495821 - TAA INS ERBB3 ENST00000267101 human ensembl 74_37 +1 known in_frame_ins c.4010_4011 p.1339in_frame_insN 0.999:0.885 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 265 0 0.00 119 48 28.74 FAM160B1 0 genome.wustl.edu 37 10 116621001 116621001 + Missense_Mutation SNP C C A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 116621001 116621001 C A SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.2100 p.D700E 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 tier1 - - 90 0 0.00 56 22 28.21 FBXO21 0 genome.wustl.edu 37 12 117603403 117603404 + Frame_Shift_Ins INS - - TGAC TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 117603403 117603404 - TGAC INS FBXO21 ENST00000330622 human ensembl 74_37 -1 known frame_shift_ins c.1213_1212 p.Y404fs 0.999:0.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 tier1 113 0 0.00 75 23 23.47 FBXO28 0 genome.wustl.edu 37 1 224321874 224321874 + Missense_Mutation SNP A A C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 224321874 224321874 A C SNP FBXO28 ENST00000366862 human ensembl 74_37 +1 known missense c.476 p.K159T 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO28 HGNC ENSG00000143756 tier1 - - 63 0 0.00 40 27 40.30 FKBP8 0 genome.wustl.edu 37 19 18650522 18650523 + Frame_Shift_Ins INS - - C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 18650522 18650523 - C INS FKBP8 ENST00000453489 human ensembl 74_37 -1 known frame_shift_ins c.388_387 p.L129fs 0.973:0.966 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 tier1 188 0 0.00 104 37 26.24 FLG 0 genome.wustl.edu 37 1 152279422 152279422 + Missense_Mutation SNP C C A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 152279422 152279422 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7940 p.R2647I 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 20 0 0.00 22 14 38.89 FLG 0 genome.wustl.edu 37 1 152283655 152283655 + Missense_Mutation SNP C C T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 152283655 152283655 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3707 p.R1236H 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs201976711 - 431 0 0.00 223 126 36.10 FOXE1 0 genome.wustl.edu 37 9 100616633 100616633 + Missense_Mutation SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 100616633 100616633 G A SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known missense c.437 p.R146H 1.000 pfam_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 tier1 - - 58 0 0.00 35 16 31.37 GAB1 0 genome.wustl.edu 37 4 144258385 144258385 + Frame_Shift_Del DEL C C - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 4 144258385 144258385 C - DEL GAB1 ENST00000262995 human ensembl 74_37 +1 known frame_shift_del c.44 p.P17fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 tier1 15 0 0.00 5 2 28.57 GBA2 0 genome.wustl.edu 37 9 35737440 35737440 + Frame_Shift_Del DEL A A - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 35737440 35737440 A - DEL GBA2 ENST00000545786 human ensembl 74_37 -1 known frame_shift_del c.2528 p.L843fs 1.000 pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 tier1 44 0 0.00 15 2 11.76 GLUD2 0 genome.wustl.edu 37 X 120182780 120182780 + Missense_Mutation SNP T T G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec X 120182780 120182780 T G SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.1242 p.D414E 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 tier1 - - 254 0 0.00 33 6 15.38 GLUD2 0 genome.wustl.edu 37 X 120182781 120182781 + Nonsense_Mutation SNP A A T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec X 120182781 120182781 A T SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known nonsense c.1243 p.K415* 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 tier1 - - 251 0 0.00 33 6 15.38 GOLGA3 0 genome.wustl.edu 37 12 133384698 133384699 + In_Frame_Ins INS - - GAT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 133384698 133384699 - GAT INS GOLGA3 ENST00000204726 human ensembl 74_37 -1 known in_frame_ins c.957_956 p.320in_frame_insS 0.714:0.899 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 89 0 0.00 40 11 21.57 GOLGB1 0 genome.wustl.edu 37 3 121415000 121415000 + Frame_Shift_Del DEL T T - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 121415000 121415000 T - DEL GOLGB1 ENST00000340645 human ensembl 74_37 -1 known frame_shift_del c.4355 p.E1452fs 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 260 0 0.00 204 83 28.92 GPATCH2 0 genome.wustl.edu 37 1 217688227 217688229 + In_Frame_Del DEL GGT GGT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GGT GGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 217688227 217688229 GGT - DEL GPATCH2 ENST00000366935 human ensembl 74_37 -1 known in_frame_del c.1103_1101 p.P368in_frame_del 0.662:0.658:0.835 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 tier1 38 0 0.00 28 13 31.71 GZF1 0 genome.wustl.edu 37 20 23347736 23347739 + Splice_Site DEL TAAA TAAA - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 TAAA TAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 23347736 23347739 TAAA - DEL GZF1 ENST00000338121 human ensembl 74_37 +1 known splice_site_del c.1459+2_1459+1 e2+2 1.000:0.985:0.952:0.847 - - - no_errors GZF1 HGNC ENSG00000125812 tier1 82 0 0.00 49 9 15.52 HAO1 0 genome.wustl.edu 37 20 7886945 7886945 + Missense_Mutation SNP A A C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 7886945 7886945 A C SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known missense c.577 p.F193V 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 tier1 - - 74 0 0.00 59 28 32.18 HCP5 0 genome.wustl.edu 37 6 31431702 31431703 + RNA INS - - A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 6 31431702 31431703 - A INS HCP5 ENST00000414046 human ensembl 74_37 +1 known rna NULL NULL 0.276:0.263 - - - no_errors HCP5 HGNC ENSG00000206337 tier1 139 0 0.00 35 38 52.05 HCP5 0 genome.wustl.edu 37 6 31431703 31431703 + RNA SNP T T C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 6 31431703 31431703 T C SNP HCP5 ENST00000414046 human ensembl 74_37 +1 known rna NULL NULL 0.263 - - - no_errors HCP5 HGNC ENSG00000206337 tier1 - - 139 0 0.00 31 39 54.17 HEATR3 0 genome.wustl.edu 37 16 50138870 50138871 + Frame_Shift_Ins INS - - A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 50138870 50138871 - A INS HEATR3 ENST00000299192 human ensembl 74_37 +1 known frame_shift_ins c.1941_1942 p.N647fs 0.848:0.995 NULL superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 tier1 164 0 0.00 90 43 32.33 HECTD3 0 genome.wustl.edu 37 1 45475688 45475689 + In_Frame_Ins INS - - TAC TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 45475688 45475689 - TAC INS HECTD3 ENST00000372172 human ensembl 74_37 -1 known in_frame_ins c.729_728 p.YVES243in_frame_ins* 1.000:1.000 superfamily_Galactose-bd-like pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 tier1 138 0 0.00 55 20 26.67 HLA-B 0 genome.wustl.edu 37 6 31323269 31323270 + Frame_Shift_Del DEL GG GG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 6 31323269 31323270 GG - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.720_719 p.T240fs 0.997:0.994 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 148 0 0.00 33 25 43.10 HRCT1 0 genome.wustl.edu 37 9 35906423 35906425 + In_Frame_Del DEL GCT GCT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 35906423 35906425 GCT - DEL HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_del c.139_141 p.A48in_frame_del 0.001:0.001:0.000 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 79 0 0.00 38 13 25.49 HSPA14 0 genome.wustl.edu 37 10 14896242 14896243 + In_Frame_Ins INS - - GAA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 14896242 14896243 - GAA INS HSPA14 ENST00000378372 human ensembl 74_37 +1 known in_frame_ins c.853_854 p.LYEG285in_frame_ins* 0.995:0.996 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 tier1 155 0 0.00 85 15 15.00 HSPA14 0 genome.wustl.edu 37 10 14896243 14896243 + Nonsense_Mutation SNP T T A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 14896243 14896243 T A SNP HSPA14 ENST00000378372 human ensembl 74_37 +1 known nonsense c.854 p.L285* 0.996 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 tier1 - - 155 0 0.00 72 18 19.57 HSPA14 0 genome.wustl.edu 37 10 14896245 14896246 + Frame_Shift_Ins INS - - C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 14896245 14896246 - C INS HSPA14 ENST00000378372 human ensembl 74_37 +1 known frame_shift_ins c.856_857 p.Y286fs 0.997:1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 tier1 153 0 0.00 71 15 17.44 HTR3B 0 genome.wustl.edu 37 11 113802150 113802150 + Missense_Mutation SNP G G T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 113802150 113802150 G T SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known missense c.258 p.E86D 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 tier1 - - 98 0 0.00 54 24 30.77 IFT172 0 genome.wustl.edu 37 2 27669168 27669169 + Frame_Shift_Del DEL GT GT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 27669168 27669169 GT - DEL IFT172 ENST00000260570 human ensembl 74_37 -1 known frame_shift_del c.4714_4713 p.P1572fs 1.000:0.927 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 111 0 0.00 37 27 42.19 IL4I1 0 genome.wustl.edu 37 19 50398324 50398324 + Splice_Site SNP C C A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 50398324 50398324 C A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known splice_site c.431+1 e3+1 1.000 - - - no_errors IL4I1 HGNC ENSG00000104951 tier1 - - 38 0 0.00 19 12 38.71 INPP5D 0 genome.wustl.edu 37 2 234093074 234093075 + Frame_Shift_Ins INS - - A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 234093074 234093075 - A INS INPP5D ENST00000359570 human ensembl 74_37 +1 known frame_shift_ins c.2146_2147 p.G717fs 1.000:1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 42 0 0.00 18 5 21.74 IRF2BPL 0 genome.wustl.edu 37 14 77493648 77493650 + In_Frame_Del DEL GCG GCG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 14 77493648 77493650 GCG - DEL IRF2BPL ENST00000238647 human ensembl 74_37 -1 known in_frame_del c.488_486 p.A164in_frame_del 0.567:0.583:0.592 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 tier1 8 0 0.00 4 3 42.86 ITGAV 0 genome.wustl.edu 37 2 187490245 187490246 + Frame_Shift_Ins INS - - GA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 187490245 187490246 - GA INS ITGAV ENST00000261023 human ensembl 74_37 +1 known frame_shift_ins c.454_455 p.P154fs 1.000:1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 tier1 46 0 0.00 7 4 36.36 KBTBD2 0 genome.wustl.edu 37 7 32919316 32919317 + RNA INS - - TGTT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 7 32919316 32919317 - TGTT INS KBTBD2 ENST00000485611 human ensembl 74_37 -1 known rna NULL NULL 0.970:0.996 - - - no_errors KBTBD2 HGNC ENSG00000170852 tier1 12 0 0.00 11 3 21.43 KCNK5 0 genome.wustl.edu 37 6 39159166 39159167 + Frame_Shift_Ins INS - - C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 6 39159166 39159167 - C INS KCNK5 ENST00000359534 human ensembl 74_37 -1 known frame_shift_ins c.1000_999 p.L333fs 0.981:0.976 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 tier1 67 0 0.00 39 14 26.42 KDM2A 0 genome.wustl.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 67018079 67018081 GAG - DEL KDM2A ENST00000529006 human ensembl 74_37 +1 known in_frame_del c.2578_2580 p.E863in_frame_del 0.986:0.996:0.994 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 tier1 25 0 0.00 18 2 10.00 KDM4C 0 genome.wustl.edu 37 9 6805671 6805671 + Missense_Mutation SNP A A G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 6805671 6805671 A G SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.217 p.I73V 0.996 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 tier1 - - 115 0 0.00 32 33 50.77 KDM6A 0 genome.wustl.edu 37 X 44949103 44949106 + Frame_Shift_Del DEL GCAG GCAG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GCAG GCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec X 44949103 44949106 GCAG - DEL KDM6A ENST00000382899 human ensembl 74_37 +1 known frame_shift_del c.3685_3688 p.G1230fs 1.000:1.000:0.999:1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 65 0 0.00 15 23 60.53 LAMA5 0 genome.wustl.edu 37 20 60913075 60913075 + Frame_Shift_Del DEL G G - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 60913075 60913075 G - DEL LAMA5 ENST00000252999 human ensembl 74_37 -1 known frame_shift_del c.1888 p.Q630fs 1.000 smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 13 0 0.00 4 2 33.33 LGR5 0 genome.wustl.edu 37 12 71834058 71834061 + Frame_Shift_Del DEL CTTC CTTC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CTTC CTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 71834058 71834061 CTTC - DEL LGR5 ENST00000266674 human ensembl 74_37 +1 known frame_shift_del c.198_201 p.F67fs 1.000:1.000:1.000:1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 tier1 47 0 0.00 29 5 14.71 LHFPL4 0 genome.wustl.edu 37 3 9547794 9547795 + In_Frame_Ins INS - - AGT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 9547794 9547795 - AGT INS LHFPL4 ENST00000287585 human ensembl 74_37 -1 known in_frame_ins c.500_499 p.167in_frame_insY 1.000:1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 tier1 76 0 0.00 37 13 26.00 LIPH 0 genome.wustl.edu 37 3 185252832 185252833 + Frame_Shift_Ins INS - - T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 185252832 185252833 - T INS LIPH ENST00000296252 human ensembl 74_37 -1 known frame_shift_ins c.138_137 p.Y46fs 1.000:1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 tier1 208 0 0.00 135 57 29.69 LRRN4CL 0 genome.wustl.edu 37 11 62455456 62455456 + Frame_Shift_Del DEL G G - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 62455456 62455456 G - DEL LRRN4CL ENST00000317449 human ensembl 74_37 -1 known frame_shift_del c.525 p.D176fs 0.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 tier1 25 0 0.00 5 2 28.57 MAPK3 0 genome.wustl.edu 37 16 30129805 30129806 + Frame_Shift_Ins INS - - TG TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 30129805 30129806 - TG INS MAPK3 ENST00000263025 human ensembl 74_37 -1 known frame_shift_ins c.408_407 p.Q136fs 1.000:1.000 pfam_Prot_kinase_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_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 pfam_Prot_kinase_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_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK3 HGNC ENSG00000102882 tier1 130 0 0.00 57 28 32.94 MATN3 0 genome.wustl.edu 37 2 20205842 20205843 + Frame_Shift_Ins INS - - C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 20205842 20205843 - C INS MATN3 ENST00000407540 human ensembl 74_37 -1 known frame_shift_ins c.453_452 p.R152fs 0.003:0.606 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC ENSG00000132031 tier1 47 0 0.00 34 5 12.82 MCL1 0 genome.wustl.edu 37 1 150551525 150551526 + In_Frame_Ins INS - - GTA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 150551525 150551526 - GTA INS MCL1 ENST00000369026 human ensembl 74_37 -1 known in_frame_ins c.482_481 p.161in_frame_insL 0.998:0.972 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam - no_errors MCL1 HGNC ENSG00000143384 tier1 78 0 0.00 57 16 21.92 MED13 0 genome.wustl.edu 37 17 60140536 60140537 + Frame_Shift_Ins INS - - ATCT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 60140536 60140537 - ATCT INS MED13 ENST00000397786 human ensembl 74_37 -1 known frame_shift_ins c.193_192 p.V64fs 1.000:1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 280 0 0.00 180 62 25.62 MLLT4 0 genome.wustl.edu 37 6 168290008 168290008 + Splice_Site DEL T T - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 6 168290008 168290008 T - DEL MLLT4 ENST00000366806 human ensembl 74_37 +1 known splice_site_del c.1009+2 e7+2 0.998 - - - no_errors MLLT4 HGNC ENSG00000130396 tier1 166 0 0.00 49 34 40.96 NAPSA 0 genome.wustl.edu 37 19 50864250 50864250 + Missense_Mutation SNP G G C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 50864250 50864250 G C SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known missense c.616 p.L206V 0.003 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 tier1 - - 66 0 0.00 30 16 34.04 NAPSA 0 genome.wustl.edu 37 19 50864252 50864252 + Frame_Shift_Del DEL A A - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 50864252 50864252 A - DEL NAPSA ENST00000253719 human ensembl 74_37 -1 known frame_shift_del c.614 p.V205fs 0.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 tier1 68 0 0.00 34 14 29.17 NCOA2 0 genome.wustl.edu 37 8 71053479 71053479 + Missense_Mutation SNP T T C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 8 71053479 71053479 T C SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.2968 p.M990V 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 50 0 0.00 20 12 37.50 NEK9 0 genome.wustl.edu 37 14 75576578 75576578 + Frame_Shift_Del DEL G G - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 14 75576578 75576578 G - DEL NEK9 ENST00000238616 human ensembl 74_37 -1 known frame_shift_del c.992 p.S331fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_RCC1/BLIP-II,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 tier1 66 0 0.00 33 20 37.74 NEUROD2 0 genome.wustl.edu 37 17 37762409 37762412 + Frame_Shift_Del DEL CACC CACC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CACC CACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 37762409 37762412 CACC - DEL NEUROD2 ENST00000302584 human ensembl 74_37 -1 known frame_shift_del c.444_441 p.V148fs 1.000:1.000:1.000:1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD2 HGNC ENSG00000171532 tier1 46 0 0.00 9 5 35.71 NOMO1 0 genome.wustl.edu 37 16 14958442 14958443 + In_Frame_Ins INS - - TCA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 14958442 14958443 - TCA INS NOMO1 ENST00000287667 human ensembl 74_37 +1 known in_frame_ins c.1396_1397 p.468in_frame_insM 1.000:0.998 superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 tier1 281 0 0.00 93 38 29.01 NOTCH4 0 genome.wustl.edu 37 6 32165325 32165326 + Frame_Shift_Ins INS - - TG TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 6 32165325 32165326 - TG INS NOTCH4 ENST00000375023 human ensembl 74_37 -1 known frame_shift_ins c.4803_4802 p.Q1601fs 0.981:0.984 pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 58 0 0.00 7 9 56.25 NOTUM 0 genome.wustl.edu 37 17 79918599 79918600 + Frame_Shift_Del DEL TG TG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 79918599 79918600 TG - DEL NOTUM ENST00000409678 human ensembl 74_37 -1 known frame_shift_del c.187_186 p.M63fs 1.000:1.000 NULL pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 tier1 21 0 0.00 15 3 16.67 NR1D2 0 genome.wustl.edu 37 3 24004063 24004064 + Frame_Shift_Del DEL TT TT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 24004063 24004064 TT - DEL NR1D2 ENST00000312521 human ensembl 74_37 +1 known frame_shift_del c.1113_1114 p.S371fs 1.000:1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 tier1 133 0 0.00 27 37 57.81 NR4A1 0 genome.wustl.edu 37 12 52432513 52432513 + Missense_Mutation SNP A A T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 52432513 52432513 A T SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known missense c.20 p.K7I 0.007 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 tier1 - - 24 0 0.00 12 6 33.33 NUDT22 0 genome.wustl.edu 37 11 63997427 63997428 + Frame_Shift_Ins INS - - C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 63997427 63997428 - C INS NUDT22 ENST00000279206 human ensembl 74_37 +1 known frame_shift_ins c.877_878 p.L294fs 0.000:0.000 NULL superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT22 HGNC ENSG00000149761 tier1 98 0 0.00 56 16 22.22 OLIG3 0 genome.wustl.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 6 137815210 137815212 TGG 0 DEL OLIG3 ENST00000367734 human ensembl 74_37 -1 known in_frame_del c.98_96 p.H32in_frame_del 1.000:1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 86 0 0.00 40 3 6.98 OR1J4 0 genome.wustl.edu 37 9 125281455 125281455 + Missense_Mutation SNP C C G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 125281455 125281455 C G SNP OR1J4 ENST00000340750 human ensembl 74_37 +1 known missense c.36 p.F12L 0.491 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J4 HGNC ENSG00000239590 tier1 - - 116 0 0.00 70 27 27.84 OR5H14 0 genome.wustl.edu 37 3 97868727 97868727 + Silent SNP A A C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 97868727 97868727 A C SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known silent c.498 p.L166 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 273 0 0.00 157 10 5.99 OR8D1 0 genome.wustl.edu 37 11 124180054 124180054 + Silent SNP C C T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 124180054 124180054 C T SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known silent c.609 p.A203 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 tier1 rs148861414 - 34 0 0.00 28 20 41.67 P2RY6 0 genome.wustl.edu 37 11 73008086 73008087 + Frame_Shift_Ins INS - - CT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 73008086 73008087 - CT INS P2RY6 ENST00000349767 human ensembl 74_37 +1 known frame_shift_ins c.523_524 p.V176fs 1.000:0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 tier1 123 0 0.00 48 24 33.33 PAIP1 0 genome.wustl.edu 37 5 43543171 43543173 + In_Frame_Del DEL ATT ATT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 ATT ATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 5 43543171 43543173 ATT - DEL PAIP1 ENST00000306846 human ensembl 74_37 -1 known in_frame_del c.669_667 p.N223in_frame_del 1.000:1.000:1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC ENSG00000172239 tier1 97 0 0.00 56 27 32.53 PARVG 0 genome.wustl.edu 37 22 44601647 44601647 + Missense_Mutation SNP T T C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 22 44601647 44601647 T C SNP PARVG ENST00000415224 human ensembl 74_37 +1 known missense c.824 p.V275A 0.994 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 tier1 - - 38 0 0.00 11 4 26.67 PCBP1 0 genome.wustl.edu 37 2 70315933 70315934 + Frame_Shift_Ins INS - - G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 70315933 70315934 - G INS PCBP1 ENST00000303577 human ensembl 74_37 +1 known frame_shift_ins c.1058_1059 p.C355fs 1.000:1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC ENSG00000169564 tier1 46 0 0.00 24 14 36.84 PCDHA7 0 genome.wustl.edu 37 5 140214266 140214266 + Missense_Mutation SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 5 140214266 140214266 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.298 p.A100T 0.133 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 PCDHA7 HGNC ENSG00000204963 tier1 - - 468 0 0.00 309 47 13.20 PCDHGA2 0 genome.wustl.edu 37 5 140720449 140720449 + Silent SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 5 140720449 140720449 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.1911 p.A637 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 tier1 - - 128 0 0.00 68 9 11.69 PDZD4 0 genome.wustl.edu 37 X 153072286 153072286 + Missense_Mutation SNP G G T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec X 153072286 153072286 G T SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known missense c.397 p.L133M 0.999 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 tier1 - - 33 0 0.00 29 4 12.12 PGP 0 genome.wustl.edu 37 16 2264040 2264041 + Frame_Shift_Ins INS - - CAGA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 2264040 2264041 - CAGA INS PGP ENST00000333503 human ensembl 74_37 -1 known frame_shift_ins c.655_654 p.V218fs 1.000:1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA - no_errors PGP HGNC ENSG00000184207 tier1 76 0 0.00 35 9 20.45 PLBD2 0 genome.wustl.edu 37 12 113822008 113822010 + In_Frame_Del DEL CAA CAA - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CAA CAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 113822008 113822010 CAA - DEL PLBD2 ENST00000280800 human ensembl 74_37 +1 known in_frame_del c.1056_1058 p.N353in_frame_del 1.000:1.000:1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 tier1 52 0 0.00 22 10 31.25 PLXNB1 0 genome.wustl.edu 37 3 48463750 48463751 + Frame_Shift_Del DEL GT GT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 48463750 48463751 GT - DEL PLXNB1 ENST00000296440 human ensembl 74_37 -1 known frame_shift_del c.1409_1408 p.T470fs 1.000:1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 26 0 0.00 2 3 60.00 PMFBP1 0 genome.wustl.edu 37 16 72198813 72198813 + Silent SNP C C A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 72198813 72198813 C A SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known silent c.15 p.A5 0.004 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 90 0 0.00 49 3 5.77 PNMT 0 genome.wustl.edu 37 17 37826572 37826572 + Frame_Shift_Del DEL C C - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 37826572 37826572 C - DEL PNMT ENST00000269582 human ensembl 74_37 +1 known frame_shift_del c.779 p.H261fs 0.002 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 tier1 36 0 0.00 11 2 15.38 PNPO 0 genome.wustl.edu 37 17 46023272 46023272 + Missense_Mutation SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 46023272 46023272 G A SNP PNPO ENST00000225573 human ensembl 74_37 +1 known missense c.463 p.E155K 0.000 superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC ENSG00000108439 tier1 - - 56 0 0.00 27 16 37.21 PPFIA3 0 genome.wustl.edu 37 19 49639036 49639037 + Frame_Shift_Ins INS - - TCTC TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 49639036 49639037 - TCTC INS PPFIA3 ENST00000334186 human ensembl 74_37 +1 known frame_shift_ins c.1521_1522 p.P509fs 1.000:1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 tier1 114 0 0.00 51 17 25.00 PPP2R2D 0 genome.wustl.edu 37 10 133769319 133769320 + Frame_Shift_Ins INS - - GGGG TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 133769319 133769320 - GGGG INS PPP2R2D ENST00000455566 human ensembl 74_37 +1 known frame_shift_ins c.1121_1122 p.K377fs 0.361:0.156 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 tier1 74 0 0.00 45 8 15.09 PRKG1 0 genome.wustl.edu 37 10 52834516 52834518 + In_Frame_Del DEL GCC GCC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 10 52834516 52834518 GCC - DEL PRKG1 ENST00000373980 human ensembl 74_37 +1 known in_frame_del c.166_168 p.A56in_frame_del 1.000:1.000:1.000 pirsf_cGMP-dependent_protein_kinase pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 26 0 0.00 16 4 20.00 PTPDC1 0 genome.wustl.edu 37 9 96860420 96860421 + Frame_Shift_Ins INS - - G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 96860420 96860421 - G INS PTPDC1 ENST00000375360 human ensembl 74_37 +1 known frame_shift_ins c.1410_1411 p.S471fs 0.000:0.001 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 tier1 67 0 0.00 32 10 23.81 RAB2B 0 genome.wustl.edu 37 14 21931857 21931858 + In_Frame_Ins INS - - ATA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 14 21931857 21931858 - ATA INS RAB2B ENST00000397762 human ensembl 74_37 -1 known in_frame_ins c.432_431 p.145in_frame_insI 0.948:0.975 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2B HGNC ENSG00000129472 tier1 121 0 0.00 83 22 20.95 RBM46 0 genome.wustl.edu 37 4 155720605 155720606 + Frame_Shift_Del DEL GT GT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 4 155720605 155720606 GT - DEL RBM46 ENST00000281722 human ensembl 74_37 +1 known frame_shift_del c.1291_1292 p.V431fs 0.997:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 tier1 59 0 0.00 37 18 32.73 RBM46 0 genome.wustl.edu 37 4 155720607 155720607 + Silent SNP T T C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 4 155720607 155720607 T C SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known silent c.1293 p.V431 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 tier1 - - 56 0 0.00 34 18 34.62 RBM46 0 genome.wustl.edu 37 4 155720609 155720610 + Frame_Shift_Del DEL TT TT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 4 155720609 155720610 TT - DEL RBM46 ENST00000281722 human ensembl 74_37 +1 known frame_shift_del c.1295_1296 p.I432fs 1.000:0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 tier1 57 0 0.00 35 18 33.96 RFC1 0 genome.wustl.edu 37 4 39290366 39290366 + RNA SNP T T C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 4 39290366 39290366 T C SNP RFC1 ENST00000510783 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RFC1 HGNC ENSG00000035928 tier1 - - 86 0 0.00 52 28 35.00 RFX4 0 genome.wustl.edu 37 12 107109185 107109185 + Missense_Mutation SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 107109185 107109185 G A SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known missense c.1028 p.R343Q 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 tier1 - - 55 0 0.00 26 5 16.13 RHBDL1 0 genome.wustl.edu 37 16 727349 727351 + In_Frame_Del DEL CTC CTC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 727349 727351 CTC - DEL RHBDL1 ENST00000219551 human ensembl 74_37 +1 known in_frame_del c.844_846 p.L282in_frame_del 0.999:0.995:0.915 pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL1 HGNC ENSG00000103269 tier1 12 0 0.00 5 5 50.00 RHBDL1 0 genome.wustl.edu 37 16 727353 727354 + Frame_Shift_Ins INS - - GA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 727353 727354 - GA INS RHBDL1 ENST00000219551 human ensembl 74_37 +1 known frame_shift_ins c.848_849 p.I284fs 1.000:0.999 pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL1 HGNC ENSG00000103269 tier1 12 0 0.00 4 5 55.56 RPL8 0 genome.wustl.edu 37 8 146016763 146016764 + Frame_Shift_Ins INS - - A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 8 146016763 146016764 - A INS RPL8 ENST00000262584 human ensembl 74_37 -1 known frame_shift_ins c.398_397 p.Y133fs 1.000:1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 tier1 98 0 0.00 52 15 22.39 RYR2 0 genome.wustl.edu 37 1 237955537 237955537 + Missense_Mutation SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 237955537 237955537 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13714 p.G4572S 1.000 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 46 0 0.00 20 10 33.33 SEZ6 0 genome.wustl.edu 37 17 27287986 27287986 + Missense_Mutation SNP A A T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 27287986 27287986 A T SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known missense c.1246 p.C416S 1.000 pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 tier1 - - 202 0 0.00 79 52 39.39 SH3YL1 0 genome.wustl.edu 37 2 231120 231121 + Frame_Shift_Ins INS - - C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 231120 231121 - C INS SH3YL1 ENST00000356150 human ensembl 74_37 -1 known frame_shift_ins c.605_604 p.D202fs 0.997:0.999 pfam_Ysc84_actin-binding pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 tier1 99 0 0.00 54 15 21.74 SIDT1 0 genome.wustl.edu 37 3 113342480 113342480 + Missense_Mutation SNP C C G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 113342480 113342480 C G SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known missense c.2222 p.S741C 0.983 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 222 0 0.00 97 52 34.90 SIDT1 0 genome.wustl.edu 37 3 113342495 113342495 + Missense_Mutation SNP C C A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 3 113342495 113342495 C A SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known missense c.2237 p.P746Q 0.628 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 237 0 0.00 103 62 37.58 SIRPB2 0 genome.wustl.edu 37 20 1456934 1456937 + Frame_Shift_Del DEL TAAT TAAT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 TAAT TAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 1456934 1456937 TAAT - DEL SIRPB2 ENST00000359801 human ensembl 74_37 -1 known frame_shift_del c.907_904 p.I302fs 0.046:0.039:0.036:0.028 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 tier1 68 0 0.00 31 7 18.42 SIRPB2 0 genome.wustl.edu 37 20 1456938 1456938 + Silent SNP T T G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 1456938 1456938 T G SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known silent c.903 p.A301 0.007 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 tier1 - - 66 0 0.00 31 7 18.42 SLIT3 0 genome.wustl.edu 37 5 168187930 168187930 + Missense_Mutation SNP T T C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 5 168187930 168187930 T C SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.1622 p.D541G 1.000 NULL pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 95 0 0.00 41 17 29.31 SP140 0 genome.wustl.edu 37 2 231109745 231109746 + In_Frame_Ins INS - - TGG TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 231109745 231109746 - TGG INS SP140 ENST00000392045 human ensembl 74_37 +1 known in_frame_ins c.614_615 p.209in_frame_insG 0.000:0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 tier1 50 0 0.00 24 7 22.58 SSFA2 0 genome.wustl.edu 37 2 182780852 182780855 + Frame_Shift_Del DEL CCTA CCTA - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CCTA CCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 182780852 182780855 CCTA - DEL SSFA2 ENST00000431877 human ensembl 74_37 +1 known frame_shift_del c.2485_2488 p.T830fs 0.949:0.820:0.001:0.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 tier1 88 0 0.00 21 9 30.00 STK33 0 genome.wustl.edu 37 11 8414085 8414086 + In_Frame_Ins INS - - CGC TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 11 8414085 8414086 - CGC INS STK33 ENST00000315204 human ensembl 74_37 -1 known in_frame_ins c.1517_1516 p.506in_frame_insG 0.000:0.000 NULL pfam_Prot_kinase_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_dom - no_errors STK33 HGNC ENSG00000130413 tier1 318 0 0.00 181 49 21.30 STOML2 0 genome.wustl.edu 37 9 35102749 35102750 + Frame_Shift_Ins INS - - T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 35102749 35102750 - T INS STOML2 ENST00000356493 human ensembl 74_37 -1 known frame_shift_ins c.117_116 p.F40fs 1.000:1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 tier1 92 0 0.00 47 23 32.86 TAF1 0 genome.wustl.edu 37 X 70603000 70603000 + Frame_Shift_Del DEL A A - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec X 70603000 70603000 A - DEL TAF1 ENST00000449580 human ensembl 74_37 +1 known frame_shift_del c.1930 p.K646fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 tier1 65 0 0.00 59 5 7.81 TBC1D2 0 genome.wustl.edu 37 9 100983179 100983180 + Frame_Shift_Ins INS - - GA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 100983179 100983180 - GA INS TBC1D2 ENST00000375066 human ensembl 74_37 -1 known frame_shift_ins c.1310_1309 p.P437fs 0.000:0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 tier1 73 0 0.00 39 12 23.53 TGFB1 0 genome.wustl.edu 37 19 41854249 41854249 + Missense_Mutation SNP C C T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 41854249 41854249 C T SNP TGFB1 ENST00000221930 human ensembl 74_37 -1 known missense c.467 p.R156H 0.950 pfam_TGF-b_N,pirsf_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta - no_errors TGFB1 HGNC ENSG00000105329 tier1 - - 156 0 0.00 79 29 26.85 TMC7 0 genome.wustl.edu 37 16 19034446 19034446 + Missense_Mutation SNP A A G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 16 19034446 19034446 A G SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.640 p.T214A 0.998 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 tier1 - - 170 0 0.00 87 36 29.27 TMEM125 0 genome.wustl.edu 37 1 43738766 43738767 + Frame_Shift_Del DEL CT CT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 43738766 43738767 CT - DEL TMEM125 ENST00000432792 human ensembl 74_37 +1 known frame_shift_del c.373_374 p.L125fs 1.000:1.000 NULL NULL - no_errors TMEM125 HGNC ENSG00000179178 tier1 9 0 0.00 9 2 18.18 TMEM167A 0 genome.wustl.edu 37 5 82373157 82373157 + RNA DEL T T - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 5 82373157 82373157 T - DEL TMEM167A ENST00000504622 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors TMEM167A HGNC ENSG00000174695 tier1 227 0 0.00 112 15 11.81 TOM1 0 genome.wustl.edu 37 22 35726366 35726368 + In_Frame_Del DEL GCA GCA - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 22 35726366 35726368 GCA - DEL TOM1 ENST00000411850 human ensembl 74_37 +1 known in_frame_del c.792_794 p.Q266in_frame_del 1.000:1.000:1.000 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 tier1 162 0 0.00 32 14 30.43 TOP2A 0 genome.wustl.edu 37 17 38560458 38560458 + Missense_Mutation SNP C C A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 38560458 38560458 C A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.2229 p.K743N 1.000 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_like_dom,smart_Topo_IIA_A/C,prints_TopoII_euk pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 257 0 0.00 119 75 38.66 TOR1B 0 genome.wustl.edu 37 9 132571787 132571788 + Frame_Shift_Ins INS - - T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 132571787 132571788 - T INS TOR1B ENST00000259339 human ensembl 74_37 +1 known frame_shift_ins c.936_937 p.R315fs 0.617:0.988 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1B HGNC ENSG00000136816 tier1 103 0 0.00 53 28 34.57 TP53 0 genome.wustl.edu 37 17 7579528 7579529 + Frame_Shift_Ins INS - - CATT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 7579528 7579529 - CATT INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.159_158 p.W53fs 0.011:0.034 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 415 0 0.00 86 63 42.28 TP53BP1 0 genome.wustl.edu 37 15 43748755 43748755 + Missense_Mutation SNP A A G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 15 43748755 43748755 A G SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.2051 p.L684P 0.055 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 190 0 0.00 96 51 34.69 TSPAN10 0 genome.wustl.edu 37 17 79615070 79615071 + Frame_Shift_Ins INS - - GAGT TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 17 79615070 79615071 - GAGT INS TSPAN10 ENST00000328585 human ensembl 74_37 +1 known frame_shift_ins c.814_815 p.V274fs 0.003:0.002 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 tier1 22 0 0.00 9 4 30.77 TUBGCP4 0 genome.wustl.edu 37 15 43668402 43668403 + Frame_Shift_Del DEL AC AC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 15 43668402 43668403 AC - DEL TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known frame_shift_del c.185_186 p.T63fs 1.000:1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP4 HGNC ENSG00000137822 tier1 165 0 0.00 75 24 24.24 TYW5 0 genome.wustl.edu 37 2 200800664 200800665 + Frame_Shift_Ins INS - - A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 2 200800664 200800665 - A INS TYW5 ENST00000354611 human ensembl 74_37 -1 known frame_shift_ins c.681_680 p.L227fs 0.982:0.996 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 tier1 156 0 0.00 80 38 32.20 U2AF2 0 genome.wustl.edu 37 19 56179953 56179954 + Splice_Site INS - - TAAC TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 56179953 56179954 - TAAC INS U2AF2 ENST00000308924 human ensembl 74_37 +1 known splice_site_ins c.822+1_822+1 e8+1 1.000:0.996 - - - no_errors U2AF2 HGNC ENSG00000063244 tier1 34 0 0.00 19 3 13.64 VCAN 0 genome.wustl.edu 37 5 82835794 82835795 + Frame_Shift_Ins INS - - G TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 5 82835794 82835795 - G INS VCAN ENST00000265077 human ensembl 74_37 +1 known frame_shift_ins c.6972_6973 p.S2325fs 0.000:0.006 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 145 0 0.00 83 35 29.66 VCP 0 genome.wustl.edu 37 9 35068344 35068345 + Frame_Shift_Del DEL GT GT - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 9 35068344 35068345 GT - DEL VCP ENST00000358901 human ensembl 74_37 -1 known frame_shift_del c.33_32 p.D11fs 0.988:1.000 NULL pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 205 0 0.00 116 56 32.56 VPS13B 0 genome.wustl.edu 37 8 100148981 100148982 + Splice_Site INS - - TA TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 8 100148981 100148982 - TA INS VPS13B ENST00000358544 human ensembl 74_37 +1 known splice_site_ins c.1651+1_1651+1 e11+1 1.000:1.000 - - - no_errors VPS13B HGNC ENSG00000132549 tier1 153 0 0.00 124 54 30.34 VPS16 0 genome.wustl.edu 37 20 2843409 2843409 + Missense_Mutation SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 20 2843409 2843409 G A SNP VPS16 ENST00000380443 human ensembl 74_37 +1 known missense c.218 p.G73E 0.000 NULL pfam_Vps16_C,pfam_Vps16_N - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 82 0 0.00 28 24 46.15 WDR20 0 genome.wustl.edu 37 14 102661431 102661431 + Nonsense_Mutation SNP G G T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 14 102661431 102661431 G T SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known nonsense c.406 p.E136* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 tier1 - - 142 0 0.00 68 38 35.85 WEE2 0 genome.wustl.edu 37 7 141423757 141423757 + Silent SNP T T C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 7 141423757 141423757 T C SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known silent c.1044 p.C348 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 61 0 0.00 53 4 7.02 WNK1 0 genome.wustl.edu 37 12 988923 988924 + Frame_Shift_Ins INS - - AG TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 12 988923 988924 - AG INS WNK1 ENST00000530271 human ensembl 74_37 +1 known frame_shift_ins c.4052_4053 p.A1352fs 0.007:0.016 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 166 0 0.00 38 24 38.71 ZC3HAV1 0 genome.wustl.edu 37 7 138758731 138758733 + In_Frame_Del DEL ACA ACA - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 7 138758731 138758733 ACA 0 DEL ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known in_frame_del c.1743_1741 p.C581in_frame_del 0.002:0.050:0.056 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 111 0 0.00 84 8 8.70 ZFP57 0 genome.wustl.edu 37 6 29643829 29643830 + Frame_Shift_Del DEL AC AC - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 6 29643829 29643830 AC - DEL ZFP57 ENST00000488757 human ensembl 74_37 -1 known frame_shift_del c.131_130 p.V44fs 0.335:0.022 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZFP57 HGNC ENSG00000204644 tier1 218 0 0.00 62 40 39.22 ZNF350 0 genome.wustl.edu 37 19 52469194 52469194 + Missense_Mutation SNP C C T TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 52469194 52469194 C T SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known missense c.512 p.R171Q 0.001 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 ZNF350 HGNC ENSG00000256683 tier1 rs138780746 - 275 0 0.00 181 71 28.17 ZNF407 0 genome.wustl.edu 37 18 72347286 72347287 + Frame_Shift_Ins INS - - C TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 18 72347286 72347287 - C INS ZNF407 ENST00000299687 human ensembl 74_37 +1 known frame_shift_ins c.4311_4312 p.T1438fs 1.000:0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 47 0 0.00 27 13 32.50 ZNF471 0 genome.wustl.edu 37 19 57036524 57036524 + Missense_Mutation SNP G G A TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 19 57036524 57036524 G A SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.1088 p.R363H 0.000 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 ZNF471 HGNC ENSG00000196263 tier1 rs142290015 - 148 0 0.00 106 38 26.21 ZNF692 0 genome.wustl.edu 37 1 249150119 249150120 + Frame_Shift_Del DEL AG AG - TCGA-KB-A93J-01A-11D-A397-08 TCGA-KB-A93J-10A-01D-A39A-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1c3b487-e2b3-4955-9fa5-106f7219a9e1 029e1b20-ed29-4a79-8d41-d8074e2d44ec 1 249150119 249150120 AG - DEL ZNF692 ENST00000451251 human ensembl 74_37 -1 known frame_shift_del c.701_700 p.L234fs 0.000:0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 tier1 24 0 0.00 20 10 33.33