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 ABCC9 0 genome.wustl.edu 37 12 21981946 21981946 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 21981946 21981946 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known silent c.3615 p.N1205 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 rs17846779 - 109 0 0.00 115 22 16.06 ACO1 0 genome.wustl.edu 37 9 32420998 32420999 + Frame_Shift_Ins INS - - T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 32420998 32420999 - T INS ACO1 ENST00000309951 human ensembl 74_37 +1 known frame_shift_ins c.943_944 p.S316fs 1.000:1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 tier1 337 0 0.00 155 64 29.22 ADCY10 0 genome.wustl.edu 37 1 167847828 167847829 + Frame_Shift_Ins INS - - AGTA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 167847828 167847829 - AGTA INS ADCY10 ENST00000367851 human ensembl 74_37 -1 known frame_shift_ins c.1262_1261 p.Y421fs 1.000:1.000 superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 111 0 0.00 81 16 16.49 AHNAK2 0 genome.wustl.edu 37 14 105405060 105405060 + Missense_Mutation SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 105405060 105405060 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.16728 p.M5576I 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 33 0 0.00 17 4 19.05 AKAP13 0 genome.wustl.edu 37 15 86122605 86122606 + In_Frame_Ins INS - - CTG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 86122605 86122606 - CTG INS AKAP13 ENST00000361243 human ensembl 74_37 +1 known in_frame_ins c.1306_1307 p.Q436in_frame_insPE 0.000:0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 60 0 0.00 38 8 17.39 AKAP6 0 genome.wustl.edu 37 14 33015304 33015305 + Frame_Shift_Ins INS - - G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 33015304 33015305 - G INS AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_ins c.1445_1446 p.R484fs 1.000:1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 193 0 0.00 136 34 20.00 ALDH18A1 0 genome.wustl.edu 37 10 97386457 97386459 + Splice_Site DEL TAC TAC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 TAC TAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 10 97386457 97386459 TAC - DEL ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known splice_site_del c.1152+1_1152+1 e9+1 0.435:0.997:1.000 - - - no_errors ALDH18A1 HGNC ENSG00000059573 tier1 62 0 0.00 48 7 12.73 ANKRD52 0 genome.wustl.edu 37 12 56637078 56637078 + Frame_Shift_Del DEL C C - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 56637078 56637078 C - DEL ANKRD52 ENST00000267116 human ensembl 74_37 -1 known frame_shift_del c.3079 p.V1027fs 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 tier1 54 0 0.00 18 2 10.00 AP3B2 0 genome.wustl.edu 37 15 83335571 83335571 + Missense_Mutation SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 83335571 83335571 C A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.1780 p.A594S 0.973 superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 - - 56 0 0.00 42 15 26.32 ARFGEF2 0 genome.wustl.edu 37 20 47605052 47605053 + In_Frame_Ins INS - - AGT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 20 47605052 47605053 - AGT INS ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known in_frame_ins c.2386_2387 p.YIK797in_frame_ins* 1.000:1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 101 0 0.00 119 20 14.39 ARHGEF39 0 genome.wustl.edu 37 9 35664030 35664031 + Frame_Shift_Ins INS - - GT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 35664030 35664031 - GT INS ARHGEF39 ENST00000378387 human ensembl 74_37 -1 known frame_shift_ins c.448_447 p.P149fs 0.866:0.864 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 tier1 81 0 0.00 48 14 22.58 ARID1B 0 genome.wustl.edu 37 6 157522222 157522223 + Frame_Shift_Ins INS - - A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 157522222 157522223 - A INS ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_ins c.4614_4615 p.M1538fs 0.106:0.913 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 85 0 0.00 52 15 22.39 ATAD2 0 genome.wustl.edu 37 8 124335209 124335209 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 124335209 124335209 C T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.4100 p.R1367H 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 rs147449805 - 75 0 0.00 82 15 15.46 ATP13A5 0 genome.wustl.edu 37 3 193049076 193049077 + Frame_Shift_Ins INS - - ATGG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 3 193049076 193049077 - ATGG INS ATP13A5 ENST00000342358 human ensembl 74_37 -1 known frame_shift_ins c.1297_1296 p.M432fs 1.000:0.929 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 tier1 54 0 0.00 40 4 9.09 ATP8B2 0 genome.wustl.edu 37 1 154317558 154317559 + In_Frame_Ins INS - - TGT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 154317558 154317559 - TGT INS ATP8B2 ENST00000368489 human ensembl 74_37 +1 known in_frame_ins c.2497_2498 p.834in_frame_insL 0.996:1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 tier1 177 0 0.00 117 27 18.75 ATP9A 0 genome.wustl.edu 37 20 50342378 50342379 + Frame_Shift_Del DEL AG AG - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 20 50342378 50342379 AG - DEL ATP9A ENST00000338821 human ensembl 74_37 -1 known frame_shift_del c.307_306 p.T104fs 1.000:0.929 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 tier1 50 0 0.00 51 9 15.00 BOC 0 genome.wustl.edu 37 3 112989649 112989652 + Frame_Shift_Del DEL TAAC TAAC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 TAAC TAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 3 112989649 112989652 TAAC - DEL BOC ENST00000273395 human ensembl 74_37 +1 known frame_shift_del c.525_528 p.N176fs 0.988:1.000:1.000:1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 tier1 89 0 0.00 32 30 48.39 C1orf210 0 genome.wustl.edu 37 1 43748922 43748923 + Frame_Shift_Ins INS - - TT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 43748922 43748923 - TT INS C1orf210 ENST00000423420 human ensembl 74_37 -1 known frame_shift_ins c.20_19 p.T7fs 0.991:0.326 NULL NULL - no_errors C1orf210 HGNC ENSG00000253313 tier1 44 0 0.00 33 9 21.43 C2CD3 0 genome.wustl.edu 37 11 73803554 73803555 + In_Frame_Ins INS - - AAC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 73803554 73803555 - AAC INS C2CD3 ENST00000334126 human ensembl 74_37 -1 known in_frame_ins c.3424_3423 p.1141in_frame_insV 1.000:1.000 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 88 0 0.00 72 13 15.29 C2CD3 0 genome.wustl.edu 37 11 73803555 73803555 + Silent SNP G G C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 73803555 73803555 G C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.3423 p.T1141 1.000 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 86 0 0.00 67 14 17.28 C9orf96 0 genome.wustl.edu 37 9 136270026 136270027 + In_Frame_Ins INS - - TGC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 136270026 136270027 - TGC INS C9orf96 ENST00000371957 human ensembl 74_37 +1 known in_frame_ins c.1846_1847 p.619in_frame_insL 0.988:1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 tier1 112 0 0.00 75 19 20.21 CACNA1F 0 genome.wustl.edu 37 X 49076225 49076227 + In_Frame_Del DEL TCC TCC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a X 49076225 49076227 TCC - DEL CACNA1F ENST00000376265 human ensembl 74_37 -1 known in_frame_del c.2444_2442 p.E818in_frame_del 0.912:0.895:0.691 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 tier1 8 0 0.00 5 2 28.57 CASZ1 0 genome.wustl.edu 37 1 10700021 10700022 + In_Frame_Ins INS - - CGC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 10700021 10700022 - CGC INS CASZ1 ENST00000377022 human ensembl 74_37 -1 known in_frame_ins c.4258_4257 p.1419in_frame_insA 0.517:0.046 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 32 0 0.00 23 8 25.81 CD47 0 genome.wustl.edu 37 3 107778384 107778385 + Frame_Shift_Del DEL AT AT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 3 107778384 107778385 AT - DEL CD47 ENST00000361309 human ensembl 74_37 -1 known frame_shift_del c.606_605 p.Y202fs 0.999:1.000 pfam_CD47_TM pfam_CD47_Vset,pfam_CD47_TM,pfscan_Ig-like_dom - no_errors CD47 HGNC ENSG00000196776 tier1 98 0 0.00 79 46 36.80 CDH4 0 genome.wustl.edu 37 20 60498692 60498692 + Missense_Mutation SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 20 60498692 60498692 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1558 p.V520M 0.425 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 35 0 0.00 28 6 17.65 CENPL 0 genome.wustl.edu 37 1 173780343 173780343 + Missense_Mutation SNP T T G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 173780343 173780343 T G SNP CENPL ENST00000356198 human ensembl 74_37 -1 known missense c.95 p.E32A 0.790 NULL NULL - no_errors CENPL HGNC ENSG00000120334 tier1 - - 126 0 0.00 66 26 27.96 CNTN5 0 genome.wustl.edu 37 11 99931992 99931992 + Missense_Mutation SNP T T A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 99931992 99931992 T A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1029 p.S343R 0.833 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 167 0 0.00 141 11 7.24 CR2 0 genome.wustl.edu 37 1 207644426 207644426 + Missense_Mutation SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 207644426 207644426 G A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.1487 p.G496D 0.967 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 tier1 - - 85 0 0.00 46 12 20.69 DBF4 0 genome.wustl.edu 37 7 87537084 87537085 + Frame_Shift_Ins INS - - T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 7 87537084 87537085 - T INS DBF4 ENST00000265728 human ensembl 74_37 +1 known frame_shift_ins c.1631_1632 p.V545fs 0.003:0.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 tier1 126 0 0.00 114 27 19.15 DDX19B 0 genome.wustl.edu 37 16 70365712 70365713 + Frame_Shift_Ins INS - - AG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 16 70365712 70365713 - AG INS DDX19B ENST00000288071 human ensembl 74_37 +1 known frame_shift_ins c.1111_1112 p.A373fs 1.000:1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 tier1 38 0 0.00 16 11 40.74 DPRX 0 genome.wustl.edu 37 19 54139886 54139886 + Missense_Mutation SNP G G T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 54139886 54139886 G T SNP DPRX ENST00000376650 human ensembl 74_37 +1 known missense c.220 p.A74S 0.017 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DPRX HGNC ENSG00000204595 tier1 - - 54 0 0.00 54 13 19.40 DPY19L2P1 0 genome.wustl.edu 37 7 35187465 35187465 + RNA SNP G G T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 7 35187465 35187465 G T SNP DPY19L2P1 ENST00000458672 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 25 0 0.00 20 6 23.08 DSP 0 genome.wustl.edu 37 6 7559468 7559468 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 7559468 7559468 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.432 p.Q144 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 71 0 0.00 30 18 37.50 DUOX1 0 genome.wustl.edu 37 15 45455820 45455821 + Frame_Shift_Ins INS - - TGGT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 45455820 45455821 - TGGT INS DUOX1 ENST00000321429 human ensembl 74_37 +1 known frame_shift_ins c.4339_4340 p.S1449fs 1.000:1.000 pfam_Fe_red_NAD-bd_6 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 102 0 0.00 69 17 19.77 DUSP4 0 genome.wustl.edu 37 8 29194858 29194859 + Frame_Shift_Ins INS - - AT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 29194858 29194859 - AT INS DUSP4 ENST00000240100 human ensembl 74_37 -1 known frame_shift_ins c.870_869 p.C291fs 1.000:1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 tier1 58 0 0.00 28 13 31.71 DYRK3 0 genome.wustl.edu 37 1 206822307 206822308 + Frame_Shift_Ins INS - - T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 206822307 206822308 - T INS DYRK3 ENST00000367109 human ensembl 74_37 +1 known frame_shift_ins c.1764_1765 p.*588fs 1.000:1.000 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 DYRK3 HGNC ENSG00000143479 tier1 100 0 0.00 68 20 22.73 EGFL8 0 genome.wustl.edu 37 6 32134572 32134573 + Frame_Shift_Del DEL GC GC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 32134572 32134573 GC - DEL EGFL8 ENST00000333845 human ensembl 74_37 +1 known frame_shift_del c.319_320 p.L108fs 1.000:0.999 pfscan_EMI_domain pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 tier1 30 0 0.00 21 6 22.22 EIF2AK3 0 genome.wustl.edu 37 2 88874956 88874957 + Frame_Shift_Ins INS - - A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 2 88874956 88874957 - A INS EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known frame_shift_ins c.2045_2044 p.W682fs 1.000:1.000 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,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 tier1 57 0 0.00 39 15 27.78 ENC1 0 genome.wustl.edu 37 5 73931865 73931866 + Frame_Shift_Ins INS - - AGTT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 5 73931865 73931866 - AGTT INS ENC1 ENST00000302351 human ensembl 74_37 -1 known frame_shift_ins c.446_445 p.C149fs 1.000:1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 tier1 109 0 0.00 56 22 28.21 ENPP5 0 genome.wustl.edu 37 6 46135602 46135605 + Frame_Shift_Del DEL GTAT GTAT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 GTAT GTAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 46135602 46135605 GTAT - DEL ENPP5 ENST00000230565 human ensembl 74_37 -1 known frame_shift_del c.398_395 p.H132fs 0.000:0.000:0.060:0.981 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 tier1 113 0 0.00 49 15 23.44 ENSG00000231868 0 genome.wustl.edu 37 1 6505708 6505708 + RNA SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 6505708 6505708 C A SNP ENSG00000231868 ENST00000419034 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-202O8.2 Clone_based_vega_gene ENSG00000231868 tier1 - - 31 0 0.00 21 7 25.00 ERI1 0 genome.wustl.edu 37 8 8887408 8887409 + Frame_Shift_Ins INS - - AGCA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 8887408 8887409 - AGCA INS ERI1 ENST00000250263 human ensembl 74_37 +1 known frame_shift_ins c.914_915 p.V307fs 1.000:0.982 superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_SAP_dom,superfamily_RNaseH-like_dom,smart_SAP_dom,smart_Exonuclease,pfscan_SAP_dom - no_errors ERI1 HGNC ENSG00000104626 tier1 101 0 0.00 57 13 18.57 ESRRB 0 genome.wustl.edu 37 14 76905765 76905765 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 76905765 76905765 G A SNP ESRRB ENST00000380887 human ensembl 74_37 +1 known silent c.69 p.P23 0.675 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 tier1 rs1064436 - 66 0 0.00 37 19 33.93 EXOC3 0 genome.wustl.edu 37 5 453712 453715 + Frame_Shift_Del DEL TCAC TCAC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 TCAC TCAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 5 453712 453715 TCAC - DEL EXOC3 ENST00000315013 human ensembl 74_37 +1 known frame_shift_del c.592_595 p.S198fs 0.976:0.978:0.137:0.318 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 tier1 79 0 0.00 44 13 22.81 EXOC7 0 genome.wustl.edu 37 17 74097940 74097941 + Frame_Shift_Ins INS - - AC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 74097940 74097941 - AC INS EXOC7 ENST00000335146 human ensembl 74_37 -1 known frame_shift_ins c.131_130 p.S44fs 1.000:1.000 NULL pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 tier1 42 0 0.00 35 11 23.91 FAM179B 0 genome.wustl.edu 37 14 45496649 45496649 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 45496649 45496649 C T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.3476 p.S1159L 0.961 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 tier1 - - 63 0 0.00 40 13 24.53 FANCM 0 genome.wustl.edu 37 14 45644500 45644500 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 45644500 45644500 C T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.2543 p.T848I 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 37 0 0.00 49 11 18.33 FBXO27 0 genome.wustl.edu 37 19 39521724 39521725 + Frame_Shift_Ins INS - - CT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 39521724 39521725 - CT INS FBXO27 ENST00000292853 human ensembl 74_37 -1 known frame_shift_ins c.517_516 p.G172fs 0.898:0.966 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO27 HGNC ENSG00000161243 tier1 127 0 0.00 86 15 14.85 FGF8 0 genome.wustl.edu 37 10 103534666 103534666 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 10 103534666 103534666 T - DEL FGF8 ENST00000320185 human ensembl 74_37 -1 known frame_shift_del c.160 p.T54fs 1.000 superfamily_Cytokine_IL1-like pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF8 HGNC ENSG00000107831 tier1 32 0 0.00 34 12 26.09 FLG2 0 genome.wustl.edu 37 1 152327704 152327704 + Missense_Mutation SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 152327704 152327704 C A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2558 p.S853I 0.813 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 406 0 0.00 282 76 21.23 FMO3 0 genome.wustl.edu 37 1 171076876 171076877 + Frame_Shift_Del DEL AC AC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 171076876 171076877 AC - DEL FMO3 ENST00000367755 human ensembl 74_37 +1 known frame_shift_del c.382_383 p.T128fs 0.039:0.005 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 tier1 78 0 0.00 60 18 23.08 FRMD3 0 genome.wustl.edu 37 9 86153098 86153098 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 86153098 86153098 T - DEL FRMD3 ENST00000304195 human ensembl 74_37 -1 known frame_shift_del c.49 p.M17fs 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 tier1 20 0 0.00 12 2 14.29 GNPTAB 0 genome.wustl.edu 37 12 102224402 102224403 + Frame_Shift_Del DEL AC AC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 102224402 102224403 AC - DEL GNPTAB ENST00000299314 human ensembl 74_37 -1 known frame_shift_del c.52_51 p.Y18fs 1.000:1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 20 0 0.00 18 5 21.74 GPR137C 0 genome.wustl.edu 37 14 53020294 53020295 + Frame_Shift_Ins INS - - CT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 53020294 53020295 - CT INS GPR137C ENST00000321662 human ensembl 74_37 +1 known frame_shift_ins c.429_430 p.Y144fs 1.000:1.000 NULL NULL - no_errors GPR137C HGNC ENSG00000180998 tier1 16 0 0.00 18 9 33.33 GSKIP 0 genome.wustl.edu 37 14 96848830 96848830 + Missense_Mutation SNP A A C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 96848830 96848830 A C SNP GSKIP ENST00000438650 human ensembl 74_37 +1 known missense c.246 p.E82D 0.991 pfam_DUF727,superfamily_GSKIP_dom pfam_DUF727,superfamily_GSKIP_dom - no_errors GSKIP HGNC ENSG00000100744 tier1 - - 52 0 0.00 46 10 17.86 GSPT2 0 genome.wustl.edu 37 X 51487820 51487820 + Silent SNP T T C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a X 51487820 51487820 T C SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known silent c.1098 p.C366 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 tier1 - - 71 0 0.00 42 17 28.81 GZF1 0 genome.wustl.edu 37 20 23347736 23347739 + Splice_Site DEL TAAA TAAA - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 TAAA TAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 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 49 0 0.00 31 12 27.91 HCP5 0 genome.wustl.edu 37 6 31431702 31431703 + RNA INS - - TAT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 31431702 31431703 - TAT INS HCP5 ENST00000414046 human ensembl 74_37 +1 known rna NULL NULL 0.276:0.263 - - - no_errors HCP5 HGNC ENSG00000206337 tier1 103 0 0.00 67 12 15.19 HIAT1 0 genome.wustl.edu 37 1 100546214 100546214 + Missense_Mutation SNP A A T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 100546214 100546214 A T SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known missense c.1265 p.Q422L 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 tier1 - - 122 0 0.00 79 26 24.76 HNRNPL 0 genome.wustl.edu 37 19 39328041 39328042 + Frame_Shift_Ins INS - - AATG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 39328041 39328042 - AATG INS HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_ins c.1694_1693 p.Y565fs 1.000:1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 tier1 40 0 0.00 36 4 10.00 IRF2 0 genome.wustl.edu 37 4 185320123 185320123 + Frame_Shift_Del DEL C C - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 4 185320123 185320123 C - DEL IRF2 ENST00000393593 human ensembl 74_37 -1 known frame_shift_del c.640 p.V214fs 0.976 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 tier1 77 0 0.00 23 23 50.00 IRF4 0 genome.wustl.edu 37 6 393302 393302 + Frame_Shift_Del DEL C C - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 393302 393302 C - DEL IRF4 ENST00000380956 human ensembl 74_37 +1 known frame_shift_del c.150 p.R51fs 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 tier1 18 0 0.00 4 2 33.33 KCNH5 0 genome.wustl.edu 37 14 63447637 63447638 + In_Frame_Ins INS - - CAG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 63447637 63447638 - CAG INS KCNH5 ENST00000322893 human ensembl 74_37 -1 known in_frame_ins c.895_894 p.298in_frame_insL 1.000:0.993 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 tier1 51 0 0.00 36 12 25.00 KCNT2 0 genome.wustl.edu 37 1 196197391 196197391 + Missense_Mutation SNP A A C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 196197391 196197391 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.3371 p.V1124G 0.811 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 65 0 0.00 36 13 26.53 KIAA0391 0 genome.wustl.edu 37 14 35736081 35736082 + Frame_Shift_Ins INS - - GTAA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 35736081 35736082 - GTAA INS KIAA0391 ENST00000534898 human ensembl 74_37 +1 known frame_shift_ins c.1424_1425 p.I475fs 1.000:1.000 NULL NULL - no_errors KIAA0391 HGNC ENSG00000100890 tier1 77 0 0.00 82 15 15.46 KIFC2 0 genome.wustl.edu 37 8 145697869 145697870 + Splice_Site INS - - AG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 145697869 145697870 - AG INS KIFC2 ENST00000301332 human ensembl 74_37 +1 known splice_site_ins c.1731+2_1731+1 e15+2 0.940:0.272 - - - no_errors KIFC2 HGNC ENSG00000167702 tier1 28 0 0.00 14 7 33.33 KRBA2 0 genome.wustl.edu 37 17 8273688 8273689 + Frame_Shift_Ins INS - - AGCT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 8273688 8273689 - AGCT INS KRBA2 ENST00000331336 human ensembl 74_37 -1 known frame_shift_ins c.243_242 p.S82fs 0.683:0.206 superfamily_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core - no_errors KRBA2 HGNC ENSG00000184619 tier1 73 0 0.00 43 11 20.37 KRT35 0 genome.wustl.edu 37 17 39637118 39637118 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 39637118 39637118 C T SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known missense c.232 p.A78T 0.105 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 tier1 - - 45 0 0.00 179 12 6.28 KRT85 0 genome.wustl.edu 37 12 52761107 52761108 + Frame_Shift_Ins INS - - T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 52761107 52761108 - T INS KRT85 ENST00000257901 human ensembl 74_37 -1 known frame_shift_ins c.83_82 p.T28fs 0.909:0.962 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 48 0 0.00 25 2 7.41 KRTAP4-7 0 genome.wustl.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 39240627 39240627 T C SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known missense c.169 p.S57P 0.032 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 tier1 rs189343211 - 56 0 0.00 81 20 19.80 KRTAP4-8 0 genome.wustl.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 39254054 39254054 A T SNP KRTAP4-8 ENST00000333822 human ensembl 74_37 -1 known missense c.283 p.C95S 0.992 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 tier1 rs76270529 - 44 0 0.00 244 28 10.29 LRRK2 0 genome.wustl.edu 37 12 40619415 40619416 + Frame_Shift_Ins INS - - G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 40619415 40619416 - G INS LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_ins c.210_211 p.Y70fs 0.050:0.616 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 47 0 0.00 26 17 39.53 LRRK2 0 genome.wustl.edu 37 12 40619416 40619416 + Missense_Mutation SNP T T A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 40619416 40619416 T A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.211 p.Y71N 0.616 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 47 0 0.00 24 17 38.64 LYN 0 genome.wustl.edu 37 8 56864630 56864630 + Missense_Mutation SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 56864630 56864630 G A SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.593 p.R198Q 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 tier1 - - 89 0 0.00 56 52 48.15 MALAT1 0 genome.wustl.edu 37 11 65273297 65273298 + RNA INS - - ACAT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 65273297 65273298 - ACAT INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 75 0 0.00 62 16 20.51 MAPK6 0 genome.wustl.edu 37 15 52339019 52339020 + Frame_Shift_Ins INS - - G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 52339019 52339020 - G INS MAPK6 ENST00000261845 human ensembl 74_37 +1 known frame_shift_ins c.362_363 p.L124fs 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 tier1 63 0 0.00 43 13 23.21 MED21 0 genome.wustl.edu 37 12 27179396 27179398 + In_Frame_Del DEL GTG GTG - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 27179396 27179398 GTG - DEL MED21 ENST00000282892 human ensembl 74_37 +1 known in_frame_del c.86_88 p.G30in_frame_del 1.000:1.000:1.000 pfam_Mediator_Med21 pfam_Mediator_Med21 - no_errors MED21 HGNC ENSG00000152944 tier1 79 0 0.00 55 21 27.63 MIDN 0 genome.wustl.edu 37 19 1257098 1257098 + Frame_Shift_Del DEL G G - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 1257098 1257098 G - DEL MIDN ENST00000300952 human ensembl 74_37 +1 known frame_shift_del c.1234 p.A412fs 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors MIDN HGNC ENSG00000167470 tier1 29 0 0.00 10 9 47.37 MIDN 0 genome.wustl.edu 37 19 1257099 1257099 + Missense_Mutation SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 1257099 1257099 C A SNP MIDN ENST00000300952 human ensembl 74_37 +1 known missense c.1235 p.A412E 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors MIDN HGNC ENSG00000167470 tier1 - - 30 0 0.00 10 9 47.37 MORC4 0 genome.wustl.edu 37 X 106199760 106199760 + Missense_Mutation SNP G G T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a X 106199760 106199760 G T SNP MORC4 ENST00000355610 human ensembl 74_37 -1 known missense c.1459 p.Q487K 0.989 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 tier1 - - 205 0 0.00 146 38 20.65 MOV10L1 0 genome.wustl.edu 37 22 50580607 50580608 + Frame_Shift_Ins INS - - GAGC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 22 50580607 50580608 - GAGC INS MOV10L1 ENST00000262794 human ensembl 74_37 +1 known frame_shift_ins c.2168_2169 p.D725fs 0.000:0.000 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 tier1 30 0 0.00 13 4 23.53 MRGPRX1 0 genome.wustl.edu 37 11 18956154 18956154 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 18956154 18956154 C T SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known missense c.178 p.A60T 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 tier1 - - 93 0 0.00 64 29 31.18 MROH1 0 genome.wustl.edu 37 8 145278034 145278034 + Frame_Shift_Del DEL G G - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 145278034 145278034 G - DEL MROH1 ENST00000326134 human ensembl 74_37 +1 known frame_shift_del c.1239 p.I414fs 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors MROH1 HGNC ENSG00000179832 tier1 22 0 0.00 25 5 16.67 MRPL37 0 genome.wustl.edu 37 1 54666084 54666085 + Frame_Shift_Ins INS - - C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 54666084 54666085 - C INS MRPL37 ENST00000360840 human ensembl 74_37 +1 known frame_shift_ins c.168_169 p.I57fs 1.000:1.000 NULL pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 tier1 59 0 0.00 43 14 24.56 MRPL45 0 genome.wustl.edu 37 17 36478056 36478059 + Frame_Shift_Del DEL AGAT AGAT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 36478056 36478059 AGAT 0 DEL MRPL45 ENST00000312513 human ensembl 74_37 +1 known frame_shift_del c.708_711 p.D237fs 1.000:1.000:1.000:1.000 pfam_Tim44-like_dom,smart_Tim44-like_dom pfam_Tim44-like_dom,smart_Tim44-like_dom - no_errors MRPL45 HGNC ENSG00000174100 113 0 0.00 224 16 6.67 MTBP 0 genome.wustl.edu 37 8 121457710 121457712 + In_Frame_Del DEL GAT GAT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 121457710 121457712 GAT - DEL MTBP ENST00000305949 human ensembl 74_37 +1 known in_frame_del c.2_2 p.Y4in_frame_del* 0.174:0.974:1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 tier1 72 0 0.00 55 21 27.63 MTBP 0 genome.wustl.edu 37 8 121457713 121457713 + Missense_Mutation SNP G G C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 121457713 121457713 G C SNP MTBP ENST00000305949 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 tier1 - - 71 0 0.00 51 21 29.17 MTERFD3 0 genome.wustl.edu 37 12 107371502 107371503 + Frame_Shift_Ins INS - - TACT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 107371502 107371503 - TACT INS MTERFD3 ENST00000240050 human ensembl 74_37 -1 known frame_shift_ins c.991_990 p.Q330fs 0.983:0.028 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 tier1 225 0 0.00 150 41 21.47 MUC7 0 genome.wustl.edu 37 4 71347114 71347114 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 4 71347114 71347114 C T SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known missense c.653 p.P218L 0.051 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 tier1 - - 90 0 0.00 72 18 20.00 NCSTN 0 genome.wustl.edu 37 1 160326468 160326468 + Missense_Mutation SNP A A G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 160326468 160326468 A G SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known missense c.1718 p.N573S 1.000 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 tier1 - - 65 0 0.00 49 21 30.00 NEDD9 0 genome.wustl.edu 37 6 11185795 11185795 + Missense_Mutation SNP G G T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 11185795 11185795 G T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.2105 p.A702D 0.005 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 tier1 - - 67 0 0.00 36 12 25.00 NEDD9 0 genome.wustl.edu 37 6 11185798 11185798 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 11185798 11185798 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.2102 p.S701N 0.199 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 tier1 rs146839387 - 66 0 0.00 33 11 24.44 NOD2 0 genome.wustl.edu 37 16 50744629 50744629 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 16 50744629 50744629 G A SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known silent c.807 p.P269 0.001 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 - - 22 0 0.00 15 7 31.82 OR8B2 0 genome.wustl.edu 37 11 124253168 124253168 + Silent SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 124253168 124253168 C T SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known silent c.72 p.R24 0.012 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 tier1 - - 244 0 0.00 188 74 28.24 OR9A4 0 genome.wustl.edu 37 7 141619259 141619259 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 7 141619259 141619259 C T SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known missense c.584 p.T195M 0.000 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 OR9A4 HGNC ENSG00000258083 tier1 - - 129 0 0.00 70 28 28.57 PBRM1 0 genome.wustl.edu 37 3 52620539 52620540 + Frame_Shift_Del DEL CG CG - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 CG CG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 3 52620539 52620540 CG - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.3289_3288 p.V1097fs 1.000:0.963 NULL pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 106 0 0.00 53 10 15.87 PBRM1 0 genome.wustl.edu 37 3 52620544 52620545 + Frame_Shift_Del DEL AC AC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 3 52620544 52620545 AC - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.3284_3283 p.V1095fs 1.000:1.000 NULL pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 100 0 0.00 42 11 20.75 PCDH10 0 genome.wustl.edu 37 4 134072318 134072319 + Frame_Shift_Ins INS - - TT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 4 134072318 134072319 - TT INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.1023_1024 p.C341fs 1.000:1.000 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 PCDH10 HGNC ENSG00000138650 tier1 104 0 0.00 81 13 13.83 PCDH17 0 genome.wustl.edu 37 13 58208475 58208475 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 13 58208475 58208475 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1795 p.R599C 0.950 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 42 0 0.00 31 11 26.19 PCDHA12 0 genome.wustl.edu 37 5 140256803 140256803 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 5 140256803 140256803 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1746 p.P582 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 161 0 0.00 93 37 28.46 PCDHGA5 0 genome.wustl.edu 37 5 140745573 140745573 + Missense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 5 140745573 140745573 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1676 p.T559M 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 tier1 - - 178 0 0.00 137 40 22.60 PCM1 0 genome.wustl.edu 37 8 17794817 17794817 + Nonsense_Mutation SNP C C T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 17794817 17794817 C T SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known nonsense c.271 p.Q91* 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 16 0 0.00 15 5 25.00 PCSK1 0 genome.wustl.edu 37 5 95746490 95746490 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 5 95746490 95746490 G A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known silent c.1083 p.T361 0.962 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 tier1 - - 102 0 0.00 73 17 18.89 PEX3 0 genome.wustl.edu 37 6 143780224 143780225 + Frame_Shift_Ins INS - - TATA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 143780224 143780225 - TATA INS PEX3 ENST00000367591 human ensembl 74_37 +1 known frame_shift_ins c.76_77 p.L29fs 1.000:1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 tier1 40 0 0.00 31 7 18.42 PIFO 0 genome.wustl.edu 37 1 111890366 111890367 + Frame_Shift_Ins INS - - AGCT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 111890366 111890367 - AGCT INS PIFO ENST00000369738 human ensembl 74_37 +1 known frame_shift_ins c.230_231 p.V79fs 0.984:0.142 NULL NULL - no_errors PIFO HGNC ENSG00000173947 tier1 80 0 0.00 63 9 12.50 PITPNM1 0 genome.wustl.edu 37 11 67265104 67265105 + Frame_Shift_Ins INS - - G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 67265104 67265105 - G INS PITPNM1 ENST00000356404 human ensembl 74_37 -1 known frame_shift_ins c.1829_1828 p.L610fs 1.000:1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 tier1 88 0 0.00 65 20 23.53 PKD2L2 0 genome.wustl.edu 37 5 137259161 137259164 + Frame_Shift_Del DEL ATTC ATTC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 ATTC ATTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 5 137259161 137259164 ATTC - DEL PKD2L2 ENST00000508883 human ensembl 74_37 +1 known frame_shift_del c.1502_1505 p.Y501fs 0.998:0.998:0.997:0.999 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 tier1 154 0 0.00 109 10 8.40 POLG 0 genome.wustl.edu 37 15 89876827 89876828 + In_Frame_Ins INS - - TGC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 89876827 89876828 - TGC INS POLG ENST00000268124 human ensembl 74_37 -1 known in_frame_ins c.159_158 p.56in_frame_insQ 0.004:0.005 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 tier1 17 0 0.00 10 3 23.08 POM121 0 genome.wustl.edu 37 7 72416125 72416125 + Missense_Mutation SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 7 72416125 72416125 G A SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.3530 p.G1177D 0.970 NULL NULL - no_errors POM121 HGNC ENSG00000196313 tier1 - - 37 0 0.00 26 4 13.33 PREX1 0 genome.wustl.edu 37 20 47259053 47259054 + RNA INS - - TCAG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 20 47259053 47259054 - TCAG INS PREX1 ENST00000496915 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.114 - - - no_errors PREX1 HGNC ENSG00000124126 tier1 26 0 0.00 20 5 20.00 PRIM2 0 genome.wustl.edu 37 6 57393160 57393160 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 57393160 57393160 G A SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known silent c.810 p.K270 1.000 pfam_DNA_primase_lsu_euk/arc pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 tier1 rs76686926 - 14 0 0.00 7 6 46.15 PRMT3 0 genome.wustl.edu 37 11 20417463 20417463 + Missense_Mutation SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 20417463 20417463 C A SNP PRMT3 ENST00000331079 human ensembl 74_37 +1 known missense c.515 p.A172D 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 tier1 - - 105 0 0.00 70 9 11.25 PSMB3 0 genome.wustl.edu 37 17 36909536 36909537 + Frame_Shift_Del DEL GT GT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 36909536 36909537 GT - DEL PSMB3 ENST00000225426 human ensembl 74_37 +1 known frame_shift_del c.137_138 p.D47fs 0.999:0.242 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB3 HGNC ENSG00000108294 tier1 58 0 0.00 67 8 10.67 PTEN 0 genome.wustl.edu 37 10 89720779 89720780 + Frame_Shift_Ins INS - - C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 10 89720779 89720780 - C INS PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_ins c.930_931 p.N310fs 1.000:1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 134 0 0.00 77 32 29.36 PVRL2 0 genome.wustl.edu 37 19 45377717 45377717 + Missense_Mutation SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 45377717 45377717 C A SNP PVRL2 ENST00000252483 human ensembl 74_37 +1 known missense c.1024 p.Q342K 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 tier1 - - 34 0 0.00 30 8 21.05 RALGPS2 0 genome.wustl.edu 37 1 178858804 178858805 + Frame_Shift_Ins INS - - AG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 178858804 178858805 - AG INS RALGPS2 ENST00000367635 human ensembl 74_37 +1 known frame_shift_ins c.1220_1221 p.T409fs 1.000:1.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 tier1 117 0 0.00 102 19 15.70 RFXANK 0 genome.wustl.edu 37 19 19308961 19308962 + In_Frame_Ins INS - - AGC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 19308961 19308962 - AGC INS RFXANK ENST00000303088 human ensembl 74_37 +1 known in_frame_ins c.484_485 p.SLAS162in_frame_ins* 1.000:0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 tier1 79 0 0.00 38 9 19.15 RGS2 0 genome.wustl.edu 37 1 192778212 192778213 + Frame_Shift_Ins INS - - TA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 192778212 192778213 - TA INS RGS2 ENST00000235382 human ensembl 74_37 +1 known frame_shift_ins c.11_12 p.M5fs 0.991:0.948 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS2 HGNC ENSG00000116741 tier1 64 0 0.00 34 12 26.09 RLF 0 genome.wustl.edu 37 1 40705774 40705777 + Frame_Shift_Del DEL TTCT TTCT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 TTCT TTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 40705774 40705777 TTCT - DEL RLF ENST00000372771 human ensembl 74_37 +1 known frame_shift_del c.5400_5403 p.S1801fs 0.791:0.888:0.999:0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 tier1 76 0 0.00 71 13 15.48 RNF111 0 genome.wustl.edu 37 15 59347956 59347956 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 59347956 59347956 G A SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known silent c.1083 p.E361 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 43 0 0.00 48 10 17.24 RNF20 0 genome.wustl.edu 37 9 104313017 104313017 + Missense_Mutation SNP C C G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 104313017 104313017 C G SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.1222 p.L408V 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 tier1 - - 142 0 0.00 103 19 15.57 RPL24 0 genome.wustl.edu 37 3 101404713 101404713 + Silent SNP C C G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 3 101404713 101404713 C G SNP RPL24 ENST00000394077 human ensembl 74_37 -1 known silent c.141 p.R47 1.000 pfam_Ribosomal_L24e_rel pfam_Ribosomal_L24e_rel,smart_TRASH_dom - no_errors RPL24 HGNC ENSG00000114391 tier1 - - 157 0 0.00 133 35 20.83 RPP25L 0 genome.wustl.edu 37 9 34611089 34611090 + Frame_Shift_Ins INS - - GACA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 34611089 34611090 - GACA INS RPP25L ENST00000297613 human ensembl 74_37 -1 known frame_shift_ins c.205_204 p.S68fs 1.000:1.000 pfam_DNA/RNA-bd_Alba-like pfam_DNA/RNA-bd_Alba-like - no_errors RPP25L HGNC ENSG00000164967 tier1 38 0 0.00 25 3 10.71 RPRD2 0 genome.wustl.edu 37 1 150445772 150445772 + Missense_Mutation SNP T T G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 150445772 150445772 T G SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.4348 p.F1450V 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 tier1 - - 83 0 0.00 58 18 23.68 SAV1 0 genome.wustl.edu 37 14 51132284 51132285 + In_Frame_Ins INS - - ATC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 51132284 51132285 - ATC INS SAV1 ENST00000324679 human ensembl 74_37 -1 known in_frame_ins c.148_147 p.49in_frame_insD 1.000:1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_SARAH_dom,pfscan_WW_dom - no_errors SAV1 HGNC ENSG00000151748 tier1 53 0 0.00 44 12 21.43 SCN3A 0 genome.wustl.edu 37 2 166021007 166021008 + Frame_Shift_Ins INS - - TA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 2 166021007 166021008 - TA INS SCN3A ENST00000283254 human ensembl 74_37 -1 known frame_shift_ins c.497_496 p.T166fs 1.000:1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 34 0 0.00 35 10 22.22 SEC16A 0 genome.wustl.edu 37 9 139362892 139362892 + Silent SNP A A G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 139362892 139362892 A G SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.3777 p.Y1259 0.008 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 82 0 0.00 57 21 26.92 SETBP1 0 genome.wustl.edu 37 18 42449206 42449207 + Frame_Shift_Ins INS - - AGTG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 18 42449206 42449207 - AGTG INS SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_ins c.498_499 p.D167fs 1.000:1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 152 0 0.00 128 13 9.22 SH2D4A 0 genome.wustl.edu 37 8 19250920 19250921 + Frame_Shift_Ins INS - - TA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 8 19250920 19250921 - TA INS SH2D4A ENST00000265807 human ensembl 74_37 +1 known frame_shift_ins c.1140_1141 p.A381fs 1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 tier1 101 0 0.00 49 18 26.87 SLC2A6 0 genome.wustl.edu 37 9 136337221 136337222 + In_Frame_Ins INS - - CAG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 136337221 136337222 - CAG INS SLC2A6 ENST00000371899 human ensembl 74_37 -1 known in_frame_ins c.1446_1445 p.483in_frame_insC 0.644:0.990 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 tier1 62 0 0.00 37 15 28.85 SLC30A7 0 genome.wustl.edu 37 1 101362205 101362206 + Frame_Shift_Del DEL CT CT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 101362205 101362206 CT - DEL SLC30A7 ENST00000357650 human ensembl 74_37 +1 novel frame_shift_del c.160_161 p.Y55fs 0.920:0.946 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A7 HGNC ENSG00000162695 tier1 56 0 0.00 34 12 26.09 SNAPC4 0 genome.wustl.edu 37 9 139275294 139275294 + Silent SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 139275294 139275294 G A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known silent c.2397 p.H799 0.999 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 tier1 - - 37 0 0.00 19 7 26.92 SNORA3 0 genome.wustl.edu 37 11 8705833 8705834 + RNA INS - - G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 11 8705833 8705834 - G INS SNORA3 ENST00000364113 human ensembl 74_37 +1 known rna NULL NULL 0.999:0.998 - - - no_errors SNORA3 HGNC ENSG00000200983 tier1 149 0 0.00 124 34 21.52 SOCS7 0 genome.wustl.edu 37 17 36523899 36523899 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 36523899 36523899 T 0 DEL SOCS7 ENST00000577233 human ensembl 74_37 +1 known frame_shift_del c.1326 p.I443fs 0.992 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC ENSG00000174111 60 0 0.00 87 9 9.38 SP100 0 genome.wustl.edu 37 2 231308929 231308930 + Frame_Shift_Ins INS - - AG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 2 231308929 231308930 - AG INS SP100 ENST00000340126 human ensembl 74_37 +1 known frame_shift_ins c.307_308 p.V105fs 0.000:0.000 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,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 - no_errors SP100 HGNC ENSG00000067066 tier1 127 0 0.00 84 28 25.00 SRCIN1 0 genome.wustl.edu 37 17 36719075 36719078 + Frame_Shift_Del DEL GTTG GTTG - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 GTTG GTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 36719075 36719078 GTTG - DEL SRCIN1 ENST00000264659 human ensembl 74_37 -1 known frame_shift_del c.822_819 p.N274fs 1.000:1.000:1.000:1.000 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 tier1 36 0 0.00 42 6 12.50 SSBP1 0 genome.wustl.edu 37 7 141438992 141438993 + Splice_Site INS - - AGTC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 7 141438992 141438993 - AGTC INS SSBP1 ENST00000265304 human ensembl 74_37 +1 known splice_site_ins c.24+2_24+1 e1+2 0.999:0.917 - - - no_errors SSBP1 HGNC ENSG00000106028 tier1 136 0 0.00 125 17 11.97 STX1A 0 genome.wustl.edu 37 7 73118740 73118741 + Frame_Shift_Ins INS - - GACT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 7 73118740 73118741 - GACT INS STX1A ENST00000222812 human ensembl 74_37 -1 known frame_shift_ins c.297_296 p.I100fs 1.000:1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1A HGNC ENSG00000106089 tier1 56 0 0.00 36 13 26.53 SYNPO2 0 genome.wustl.edu 37 4 119951944 119951944 + Nonsense_Mutation SNP G G T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 4 119951944 119951944 G T SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known nonsense c.2014 p.E672* 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 tier1 - - 44 0 0.00 26 11 29.73 SZT2 0 genome.wustl.edu 37 1 43916082 43916082 + Silent SNP C C G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 43916082 43916082 C G SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.10059 p.V3353 0.993 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 - - 95 0 0.00 53 9 14.52 TCF20 0 genome.wustl.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 22 42610776 42610778 TGC - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known in_frame_del c.536_534 p.Q179in_frame_del 1.000:1.000:1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 76 0 0.00 32 4 11.11 TET1 0 genome.wustl.edu 37 10 70332153 70332153 + Frame_Shift_Del DEL A A - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 10 70332153 70332153 A - DEL TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_del c.58 p.K22fs 0.855 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 32 0 0.00 14 2 12.50 TGM7 0 genome.wustl.edu 37 15 43585724 43585725 + Frame_Shift_Ins INS - - G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 43585724 43585725 - G INS TGM7 ENST00000452443 human ensembl 74_37 -1 known frame_shift_ins c.116_115 p.Q39fs 0.998:1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 tier1 136 0 0.00 92 20 17.86 TIE1 0 genome.wustl.edu 37 1 43782996 43782996 + Missense_Mutation SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 43782996 43782996 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.2536 p.G846R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 70 0 0.00 39 6 13.33 TNFRSF8 0 genome.wustl.edu 37 1 12157225 12157228 + Frame_Shift_Del DEL CTAC CTAC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 CTAC CTAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 12157225 12157228 CTAC - DEL TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known frame_shift_del c.219_222 p.Y74fs 0.948:0.945:0.941:0.866 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 43 0 0.00 31 7 18.42 TNFRSF8 0 genome.wustl.edu 37 1 12157232 12157233 + Frame_Shift_Del DEL GA GA - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 12157232 12157233 GA - DEL TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known frame_shift_del c.226_227 p.D76fs 0.000:0.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 37 0 0.00 28 7 20.00 TOP2A 0 genome.wustl.edu 37 17 38560458 38560458 + Missense_Mutation SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 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 - - 180 0 0.00 324 41 11.23 TP53 0 genome.wustl.edu 37 17 7577565 7577566 + Frame_Shift_Del DEL TT TT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 7577565 7577566 TT - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.716_715 p.N239fs 1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 79 0 0.00 30 9 23.08 TP53BP1 0 genome.wustl.edu 37 15 43783889 43783890 + Frame_Shift_Ins INS - - TAAC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 43783889 43783890 - TAAC INS TP53BP1 ENST00000382044 human ensembl 74_37 -1 known frame_shift_ins c.349_348 p.P116fs 1.000:1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 211 0 0.00 116 28 19.44 TRIM15 0 genome.wustl.edu 37 6 30131658 30131659 + Frame_Shift_Ins INS - - AG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 30131658 30131659 - AG INS TRIM15 ENST00000376694 human ensembl 74_37 +1 known frame_shift_ins c.197_198 p.T68fs 0.000:0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM15 HGNC ENSG00000204610 tier1 35 0 0.00 12 4 25.00 TRIM28 0 genome.wustl.edu 37 19 59060419 59060420 + Frame_Shift_Ins INS - - A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 59060419 59060420 - A INS TRIM28 ENST00000253024 human ensembl 74_37 +1 known frame_shift_ins c.1474_1475 p.R492fs 1.000:1.000 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 tier1 34 0 0.00 17 5 22.73 TRIM40 0 genome.wustl.edu 37 6 30115318 30115321 + Frame_Shift_Del DEL AGGT AGGT - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 AGGT AGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 6 30115318 30115321 AGGT - DEL TRIM40 ENST00000376724 human ensembl 74_37 +1 known frame_shift_del c.688_689 p.R230fs 0.966:0.998 NULL pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM40 HGNC ENSG00000204614 tier1 112 0 0.00 51 12 19.05 TSR2 0 genome.wustl.edu 37 X 54470970 54470970 + Missense_Mutation SNP G G T TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a X 54470970 54470970 G T SNP TSR2 ENST00000375151 human ensembl 74_37 +1 known missense c.563 p.R188L 1.000 NULL pfam_Pre-rRNA_process_TSR2 - no_errors TSR2 HGNC ENSG00000158526 tier1 - - 44 0 0.00 26 4 13.33 TUBGCP6 0 genome.wustl.edu 37 22 50682868 50682869 + Frame_Shift_Ins INS - - AGCT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 22 50682868 50682869 - AGCT INS TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known frame_shift_ins c.21_20 p.F8fs 1.000:1.000 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 20 0 0.00 11 6 35.29 UBE2Z 0 genome.wustl.edu 37 17 46988208 46988209 + Frame_Shift_Ins INS - - GTTC TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 46988208 46988209 - GTTC INS UBE2Z ENST00000360943 human ensembl 74_37 +1 known frame_shift_ins c.356_357 p.V122fs 1.000:1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Z HGNC ENSG00000159202 tier1 201 0 0.00 173 38 18.01 UNC79 0 genome.wustl.edu 37 14 94121677 94121678 + In_Frame_Ins INS - - TAG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 14 94121677 94121678 - TAG INS UNC79 ENST00000553484 human ensembl 74_37 +1 known in_frame_ins c.6563_6564 p.2191in_frame_insS 1.000:0.697 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 206 0 0.00 149 44 22.80 URM1 0 genome.wustl.edu 37 9 131151586 131151587 + Frame_Shift_Ins INS - - TG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 9 131151586 131151587 - TG INS URM1 ENST00000452446 human ensembl 74_37 +1 known frame_shift_ins c.235_236 p.V80fs 1.000:1.000 NULL pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b - no_errors URM1 HGNC ENSG00000167118 tier1 60 0 0.00 27 10 27.03 VCX3B 0 genome.wustl.edu 37 X 8433557 8433557 + Silent SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a X 8433557 8433557 C A SNP VCX3B ENST00000444481 human ensembl 74_37 +1 known silent c.66 p.S22 0.004 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 tier1 - - 155 0 0.00 110 20 15.38 VEZF1 0 genome.wustl.edu 37 17 56060137 56060140 + Frame_Shift_Del DEL CATC CATC - TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 CATC CATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 17 56060137 56060140 CATC 0 DEL VEZF1 ENST00000581208 human ensembl 74_37 -1 known frame_shift_del c.651_648 p.M217fs 1.000:1.000:1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 50 0 0.00 57 6 9.52 VSIG1 0 genome.wustl.edu 37 X 107316531 107316532 + In_Frame_Ins INS - - TTA TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a X 107316531 107316532 - TTA INS VSIG1 ENST00000415430 human ensembl 74_37 +1 known in_frame_ins c.728_729 p.246in_frame_insY 1.000:0.997 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG1 HGNC ENSG00000101842 tier1 419 0 0.00 353 84 19.22 WDFY1 0 genome.wustl.edu 37 2 224743393 224743393 + Missense_Mutation SNP G G A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 2 224743393 224743393 G A SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known missense c.1228 p.H410Y 0.995 NULL pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 tier1 - - 35 0 0.00 24 8 25.00 WFS1 0 genome.wustl.edu 37 4 6302945 6302945 + Missense_Mutation SNP C C A TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 4 6302945 6302945 C A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.1423 p.P475T 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 tier1 - - 48 0 0.00 44 14 24.14 XXYLT1 0 genome.wustl.edu 37 3 194991489 194991490 + Frame_Shift_Ins INS - - GG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 3 194991489 194991490 - GG INS XXYLT1 ENST00000310380 human ensembl 74_37 -1 known frame_shift_ins c.299_298 p.H100fs 1.000:1.000 NULL pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 tier1 23 0 0.00 23 3 11.54 YBX3 0 genome.wustl.edu 37 12 10868335 10868335 + Silent SNP T T C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 12 10868335 10868335 T C SNP YBX3 ENST00000228251 human ensembl 74_37 -1 known silent c.408 p.G136 0.698 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX3 HGNC ENSG00000060138 tier1 - - 85 0 0.00 58 23 28.40 ZFP14 0 genome.wustl.edu 37 19 36832189 36832190 + In_Frame_Ins INS - - TCT TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 36832189 36832190 - TCT INS ZFP14 ENST00000270001 human ensembl 74_37 -1 known in_frame_ins c.539_538 p.180in_frame_insK 0.743:0.782 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP14 HGNC ENSG00000142065 tier1 140 0 0.00 142 23 13.94 ZMYND12 0 genome.wustl.edu 37 1 42905657 42905658 + Frame_Shift_Ins INS - - G TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 1 42905657 42905658 0 G INS ZMYND12 ENST00000372565 human ensembl 74_37 -1 known frame_shift_ins c.464_463 p.Q155fs 1.000:1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND12 HGNC ENSG00000066185 94 0 0.00 90 9 9.09 ZNF248 0 genome.wustl.edu 37 10 38121464 38121465 + In_Frame_Ins INS - - CTG TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 10 38121464 38121465 - CTG INS ZNF248 ENST00000357328 human ensembl 74_37 -1 known in_frame_ins c.819_818 p.274in_frame_insS 0.799:0.814 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 ZNF248 HGNC ENSG00000198105 tier1 107 0 0.00 93 21 18.42 ZNF280D 0 genome.wustl.edu 37 15 56958914 56958914 + Missense_Mutation SNP T T C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 15 56958914 56958914 T C SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.1816 p.K606E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 tier1 - - 56 0 0.00 53 15 22.06 ZNF544 0 genome.wustl.edu 37 19 58773442 58773442 + Missense_Mutation SNP A A C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 19 58773442 58773442 A C SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known missense c.1470 p.K490N 0.946 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 ZNF544 HGNC ENSG00000198131 tier1 - - 103 0 0.00 87 18 17.14 ZNRF3 0 genome.wustl.edu 37 22 29446678 29446678 + Missense_Mutation SNP G G C TCGA-VQ-A8DL-01A-11D-A364-08 TCGA-VQ-A8DL-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d45d7fff-d7b2-42f1-b3d5-98a42d632967 783a1259-e426-489b-a4bb-aff944a6790a 22 29446678 29446678 G C SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.2509 p.D837H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 tier1 - - 20 0 0.00 20 5 20.00