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 ABCA1 0 genome.wustl.edu 37 9 107589326 107589326 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 107589326 107589326 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.2240 p.A747V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 78 0 0.00 52 4 7.14 ACADL 0 genome.wustl.edu 37 2 211070382 211070382 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 211070382 211070382 G T SNP ACADL ENST00000233710 human ensembl 74_37 -1 known missense c.742 p.L248I 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 tier1 - - 75 0 0.00 65 4 5.80 ACTN1 0 genome.wustl.edu 37 14 69376683 69376683 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 14 69376683 69376683 G T SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known missense c.504 p.N168K 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 tier1 - - 91 0 0.00 75 4 5.06 ACTR6 0 genome.wustl.edu 37 12 100617641 100617641 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 100617641 100617641 A G SNP ACTR6 ENST00000188312 human ensembl 74_37 +1 known missense c.1139 p.E380G 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR6 HGNC ENSG00000075089 86 0 0.00 76 4 5.00 ADAMDEC1 0 genome.wustl.edu 37 8 24257686 24257686 + Frame_Shift_Del DEL A A - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 24257686 24257686 A - DEL ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 0.044 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 tier1 88 0 0.00 26 2 7.14 ADAMTSL1 0 genome.wustl.edu 37 9 18892502 18892502 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 18892502 18892502 G A SNP ADAMTSL1 ENST00000380545 human ensembl 74_37 +1 putative missense c.862 p.D288N 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 85 0 0.00 58 29 33.33 AJAP1 0 genome.wustl.edu 37 1 4832541 4832541 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 4832541 4832541 G A SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.1119 p.L373 1.000 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 43 0 0.00 47 3 6.00 ALDH5A1 0 genome.wustl.edu 37 6 24503570 24503570 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 24503570 24503570 G T SNP ALDH5A1 ENST00000348925 human ensembl 74_37 +1 known missense c.518 p.R173L 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 38 0 0.00 23 2 8.00 ALG9 0 genome.wustl.edu 37 11 111711514 111711514 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 111711514 111711514 G T SNP ALG9 ENST00000531154 human ensembl 74_37 -1 known missense c.524 p.P175Q 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG9 HGNC ENSG00000086848 86 0 0.00 31 2 6.06 ALOX12B 0 genome.wustl.edu 37 17 7976505 7976505 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 7976505 7976505 C T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known silent c.1887 p.L629 0.093 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 tier1 - - 45 0 0.00 17 11 39.29 ANK3 0 genome.wustl.edu 37 10 62149194 62149194 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 62149194 62149194 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.103 p.R35W 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 rs139879505 - 32 0 0.00 23 8 25.81 ANKRD30A 0 genome.wustl.edu 37 10 37430831 37430831 + Missense_Mutation SNP T T G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 37430831 37430831 T G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.838 p.S280A 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 161 0 0.00 116 11 8.66 ANKS6 0 genome.wustl.edu 37 9 101518740 101518740 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 101518740 101518740 C T SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.2291 p.S764N 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 63 0 0.00 48 3 5.88 APC 0 genome.wustl.edu 37 5 112177096 112177096 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 112177096 112177096 G A SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.5805 p.Q1935 0.997 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 29 0 0.00 16 2 11.11 APCDD1 0 genome.wustl.edu 37 18 10487667 10487667 + Nonsense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 18 10487667 10487667 G T SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known nonsense c.1177 p.E393* 0.965 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 tier1 - - 37 0 0.00 20 3 13.04 ARHGAP5 0 genome.wustl.edu 37 14 32563069 32563069 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 14 32563069 32563069 G T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.3194 p.G1065V 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 112 0 0.00 55 4 6.78 ARL4C 0 genome.wustl.edu 37 2 235405123 235405123 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 235405123 235405123 G A SNP ARL4C ENST00000339728 human ensembl 74_37 -1 known silent c.108 p.N36 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4C HGNC ENSG00000188042 tier1 - - 64 0 0.00 55 20 26.67 ASB6 0 genome.wustl.edu 37 9 132400455 132400455 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 132400455 132400455 C A SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.880 p.A294S 0.049 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 tier1 - - 50 0 0.00 12 12 50.00 ASTN2 0 genome.wustl.edu 37 9 119739005 119739005 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 119739005 119739005 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1651 p.R551C 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 112 0 0.00 65 13 16.67 BAZ2B 0 genome.wustl.edu 37 2 160242961 160242961 + Missense_Mutation SNP A A C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 160242961 160242961 A C SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.3374 p.L1125W 1.000 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 63 0 0.00 47 21 30.88 BOLL 0 genome.wustl.edu 37 2 198650819 198650819 + RNA SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 198650819 198650819 T A SNP BOLL ENST00000486206 human ensembl 74_37 -1 known rna NULL NULL 0.610 - - - no_errors BOLL HGNC ENSG00000152430 tier1 - - 70 0 0.00 42 10 19.23 BRAF 0 genome.wustl.edu 37 7 140454022 140454022 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 140454022 140454022 G T SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.1706 p.A569D 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 tier1 - - 56 0 0.00 72 4 5.26 BRCA2 0 genome.wustl.edu 37 13 32912071 32912071 + Silent SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 13 32912071 32912071 T A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.3579 p.A1193 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 62 0 0.00 62 4 6.06 BRD1 0 genome.wustl.edu 37 22 50192241 50192241 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 22 50192241 50192241 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.1750 p.A584T 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 tier1 - - 78 0 0.00 85 12 12.37 BZW2 0 genome.wustl.edu 37 7 16737803 16737803 + Missense_Mutation SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 16737803 16737803 T C SNP BZW2 ENST00000258761 human ensembl 74_37 +1 known missense c.1100 p.F367S 1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC ENSG00000136261 tier1 - - 33 0 0.00 41 11 21.15 C14orf105 0 genome.wustl.edu 37 14 57960297 57960297 + Nonsense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 14 57960297 57960297 G C SNP C14orf105 ENST00000216445 human ensembl 74_37 -1 known nonsense c.137 p.S46* 0.000 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 tier1 - - 70 0 0.00 25 8 24.24 C1orf106 0 genome.wustl.edu 37 1 200878412 200878412 + Silent SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 200878412 200878412 T C SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known silent c.1101 p.P367 0.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 87 0 0.00 72 4 5.26 C3AR1 0 genome.wustl.edu 37 12 8212595 8212595 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 8212595 8212595 G T SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known missense c.187 p.H63N 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 tier1 - - 77 0 0.00 25 17 40.48 CACNA2D2 0 genome.wustl.edu 37 3 50405617 50405617 + Missense_Mutation SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 50405617 50405617 T C SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known missense c.2116 p.K706E 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 tier1 - - 39 0 0.00 62 4 6.06 CAPN5 0 genome.wustl.edu 37 11 76823745 76823745 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 76823745 76823745 C T SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known silent c.408 p.I136 0.915 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 71 0 0.00 54 5 8.47 CAPS 0 genome.wustl.edu 37 19 5915123 5915123 + Missense_Mutation SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 5915123 5915123 T C SNP CAPS ENST00000222125 human ensembl 74_37 +1 known missense c.434 p.L145P 1.000 smart_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS HGNC ENSG00000105519 75 0 0.00 41 5 10.87 CARD8 0 genome.wustl.edu 37 19 48734143 48734143 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 48734143 48734143 G C SNP CARD8 ENST00000391898 human ensembl 74_37 -1 known missense c.663 p.D221E 0.004 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 tier1 - - 77 0 0.00 39 19 32.76 CASQ1 0 genome.wustl.edu 37 1 160163632 160163632 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 160163632 160163632 C A SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.460 p.L154I 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 tier1 - - 84 0 0.00 55 21 27.63 CBL 0 genome.wustl.edu 37 11 119169165 119169165 + Silent SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 119169165 119169165 C G SNP CBL ENST00000264033 human ensembl 74_37 +1 known silent c.2349 p.A783 0.011 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 tier1 - - 96 0 0.00 24 29 54.72 CCDC141 0 genome.wustl.edu 37 2 179702449 179702449 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 179702449 179702449 A G SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.3497 p.L1166P 0.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 45 0 0.00 38 2 5.00 CCDC151 0 genome.wustl.edu 37 19 11532477 11532477 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 11532477 11532477 C T SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known silent c.1458 p.K486 0.795 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 tier1 - - 98 0 0.00 45 4 8.16 CCDC60 0 genome.wustl.edu 37 12 119909831 119909831 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 119909831 119909831 G T SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.203 p.G68V 0.306 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 38 0 0.00 46 3 6.12 CCDC81 0 genome.wustl.edu 37 11 86106378 86106378 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 86106378 86106378 G T SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known missense c.558 p.R186S 1.000 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 tier1 - - 63 0 0.00 58 9 13.43 CCDC86 0 genome.wustl.edu 37 11 60609977 60609977 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 60609977 60609977 G A SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known missense c.380 p.C127Y 0.000 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 tier1 - - 47 0 0.00 16 17 51.52 CCP110 0 genome.wustl.edu 37 16 19548389 19548389 + Frame_Shift_Del DEL A A - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 19548389 19548389 A - DEL CCP110 ENST00000381396 human ensembl 74_37 +1 known frame_shift_del c.1398 p.N467fs 0.055 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 tier1 53 0 0.00 21 2 8.70 CCT6B 0 genome.wustl.edu 37 17 33266673 33266673 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 33266673 33266673 C A SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known missense c.1028 p.C343F 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 54 0 0.00 35 2 5.41 CD109 0 genome.wustl.edu 37 6 74513012 74513012 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 74513012 74513012 C G SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.2948 p.S983C 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 57 0 0.00 48 12 20.00 CD48 0 genome.wustl.edu 37 1 160651063 160651063 + Missense_Mutation SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 160651063 160651063 T C SNP CD48 ENST00000368046 human ensembl 74_37 -1 known missense c.581 p.Y194C 0.500 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD48 HGNC ENSG00000117091 tier1 - - 115 0 0.00 40 43 51.81 CDH17 0 genome.wustl.edu 37 8 95186122 95186122 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 95186122 95186122 G A SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known missense c.686 p.S229F 0.048 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 tier1 - - 45 0 0.00 34 11 24.44 CDK13 0 genome.wustl.edu 37 7 40134379 40134379 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 40134379 40134379 C T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.4339 p.P1447S 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 CDK13 HGNC ENSG00000065883 56 0 0.00 46 4 8.00 CHD7 0 genome.wustl.edu 37 8 61778111 61778111 + Silent SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 61778111 61778111 T C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.8613 p.N2871 0.994 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 32 0 0.00 33 8 19.51 CHD8 0 genome.wustl.edu 37 14 21883794 21883794 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 14 21883794 21883794 G T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1907 p.P636H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 tier1 - - 88 0 0.00 65 4 5.80 CHM 0 genome.wustl.edu 37 X 85117433 85117433 + RNA SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 85117433 85117433 C T SNP CHM ENST00000467744 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CHM HGNC ENSG00000188419 tier1 - - 58 0 0.00 57 4 6.56 CHST15 0 genome.wustl.edu 37 10 125771915 125771915 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 125771915 125771915 G A SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.1429 p.R477C 0.989 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 tier1 - - 74 0 0.00 57 11 16.18 CHTF18 0 genome.wustl.edu 37 16 839599 839599 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 839599 839599 C T SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known missense c.1081 p.R361C 0.003 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 tier1 - - 119 0 0.00 61 11 15.28 CIC 0 genome.wustl.edu 37 19 42797972 42797972 + Frame_Shift_Del DEL T T - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 42797972 42797972 T - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.4024 p.F1342fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 18 0 0.00 3 2 40.00 CISD1 0 genome.wustl.edu 37 10 60028987 60028987 + RNA SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 60028987 60028987 G T SNP CISD1 ENST00000464703 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CISD1 HGNC ENSG00000122873 tier1 - - 79 0 0.00 60 5 7.58 CLINT1 0 genome.wustl.edu 37 5 157218818 157218818 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 157218818 157218818 C G SNP CLINT1 ENST00000296951 human ensembl 74_37 -1 known missense c.1219 p.D407H 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 tier1 - - 103 0 0.00 33 19 36.54 CMAHP 0 genome.wustl.edu 37 6 25137932 25137932 + RNA SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 25137932 25137932 T C SNP CMAHP ENST00000377989 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CMAHP HGNC ENSG00000168405 tier1 - - 74 0 0.00 27 37 57.81 CNBD1 0 genome.wustl.edu 37 8 88249239 88249239 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 88249239 88249239 C T SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.670 p.P224S 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 - - 92 0 0.00 68 4 5.56 CNOT3 0 genome.wustl.edu 37 19 54649343 54649343 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 54649343 54649343 C T SNP CNOT3 ENST00000221232 human ensembl 74_37 +1 known missense c.493 p.R165W 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 tier1 - - 20 0 0.00 8 3 27.27 CNOT4 0 genome.wustl.edu 37 7 135047814 135047814 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 135047814 135047814 G T SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known missense c.1965 p.H655Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 73 0 0.00 49 4 7.55 CNTN6 0 genome.wustl.edu 37 3 1415749 1415749 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 1415749 1415749 A T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2087 p.K696I 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 144 0 0.00 101 42 29.37 COPA 0 genome.wustl.edu 37 1 160263226 160263226 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 160263226 160263226 C T SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.2731 p.A911T 0.998 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 tier1 - - 115 0 0.00 83 5 5.62 COPG1 0 genome.wustl.edu 37 3 128974935 128974935 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 128974935 128974935 G T SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.517 p.V173L 0.999 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 tier1 - - 59 0 0.00 57 4 6.56 COQ3 0 genome.wustl.edu 37 6 99842037 99842037 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 99842037 99842037 G T SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.19 p.L7M 0.003 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 tier1 - - 51 0 0.00 65 5 7.14 CORO7-PAM16 0 genome.wustl.edu 37 16 4455542 4455542 + Nonsense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 4455542 4455542 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known nonsense c.514 p.Q172* 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 113 0 0.00 53 4 7.02 CRB1 0 genome.wustl.edu 37 1 197316481 197316481 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 197316481 197316481 A T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.860 p.N287I 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 69 0 0.00 62 15 19.48 CREB5 0 genome.wustl.edu 37 7 28843966 28843966 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 28843966 28843966 C T SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known missense c.853 p.P285S 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 68 0 0.00 73 4 5.19 CSTF2 0 genome.wustl.edu 37 X 100088347 100088347 + Silent SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 100088347 100088347 C G SNP CSTF2 ENST00000415585 human ensembl 74_37 +1 known silent c.1446 p.A482 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 tier1 - - 83 0 0.00 49 34 40.96 CYB5R1 0 genome.wustl.edu 37 1 202935510 202935510 + RNA SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 202935510 202935510 A G SNP CYB5R1 ENST00000478009 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CYB5R1 HGNC ENSG00000159348 tier1 - - 13 0 0.00 7 7 50.00 CYP24A1 0 genome.wustl.edu 37 20 52773967 52773967 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 52773967 52773967 C T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.1394 p.R465H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 tier1 - - 42 0 0.00 97 19 16.38 DCAF5 0 genome.wustl.edu 37 14 69522074 69522074 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 14 69522074 69522074 G A SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known silent c.1329 p.I443 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 tier1 - - 47 0 0.00 9 29 76.32 DDR2 0 genome.wustl.edu 37 1 162749971 162749971 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 162749971 162749971 G A SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.2503 p.D835N 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_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 tier1 - - 41 0 0.00 40 6 13.04 DENND1A 0 genome.wustl.edu 37 9 126220096 126220096 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 126220096 126220096 G T SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known silent c.978 p.A326 0.999 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 29 0 0.00 28 3 9.38 DENND4C 0 genome.wustl.edu 37 9 19352542 19352542 + Nonsense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 19352542 19352542 G T SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known nonsense c.4513 p.E1505* 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 tier1 - - 28 0 0.00 25 3 10.71 DHX58 0 genome.wustl.edu 37 17 40262783 40262783 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 40262783 40262783 G A SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known silent c.519 p.G173 0.400 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 tier1 - - 20 0 0.00 12 3 20.00 DIDO1 0 genome.wustl.edu 37 20 61511724 61511724 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 61511724 61511724 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.5584 p.E1862K 0.045 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 114 0 0.00 21 6 22.22 DMD 0 genome.wustl.edu 37 X 32536193 32536193 + Silent SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 32536193 32536193 A G SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.2224 p.L742 0.970 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 85 0 0.00 48 15 23.81 DMD 0 genome.wustl.edu 37 X 32834620 32834620 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 32834620 32834620 A T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.495 p.D165E 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 53 0 0.00 48 4 7.69 DNAH11 0 genome.wustl.edu 37 7 21784569 21784569 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 21784569 21784569 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.8419 p.P2807S 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 70 0 0.00 67 4 5.63 DNASE1L1 0 genome.wustl.edu 37 X 153631069 153631069 + Silent SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 153631069 153631069 A G SNP DNASE1L1 ENST00000014935 human ensembl 74_37 -1 known silent c.888 p.P296 0.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L1 HGNC ENSG00000013563 tier1 - - 52 0 0.00 57 4 6.56 DST 0 genome.wustl.edu 37 6 56376192 56376192 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 56376192 56376192 G C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.18490 p.R6164G 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 44 0 0.00 39 5 11.36 DTL 0 genome.wustl.edu 37 1 212274368 212274368 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 212274368 212274368 G A SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.2036 p.S679N 0.049 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 tier1 - - 84 0 0.00 70 20 22.22 DTNB 0 genome.wustl.edu 37 2 25851215 25851215 + Nonsense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 25851215 25851215 G A SNP DTNB ENST00000406818 human ensembl 74_37 -1 known nonsense c.187 p.R63* 1.000 pfam_EF-hand_dom_typ1,pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 77 0 0.00 64 4 5.88 DYNC2H1 0 genome.wustl.edu 37 11 103025285 103025285 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 103025285 103025285 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.3408 p.E1136D 0.906 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 116 0 0.00 29 18 38.30 EDC4 0 genome.wustl.edu 37 16 67909914 67909914 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 67909914 67909914 C T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.149 p.P50L 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 - - 96 0 0.00 49 4 7.55 EHMT2 0 genome.wustl.edu 37 6 31852462 31852462 + Frame_Shift_Del DEL G G - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 31852462 31852462 G - DEL EHMT2 ENST00000395728 human ensembl 74_37 -1 known frame_shift_del c.2734 p.L912fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 tier1 19 0 0.00 12 3 20.00 EIF2B4 0 genome.wustl.edu 37 2 27590937 27590937 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 27590937 27590937 A T SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.660 p.S220R 0.998 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 26 0 0.00 13 4 23.53 ENSG00000205611 0 genome.wustl.edu 37 20 29516628 29516628 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 29516628 29516628 G A SNP ENSG00000205611 ENST00000380888 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-610C12.4 Clone_based_vega_gene ENSG00000205611 tier1 - - 83 0 0.00 82 8 8.89 ENSG00000205790 0 genome.wustl.edu 37 19 4682879 4682880 + RNA DEL AG AG - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 4682879 4682880 AG - DEL ENSG00000205790 ENST00000381796 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000205790 tier1 25 0 0.00 11 3 21.43 ENSG00000216072 0 genome.wustl.edu 37 6 63393137 63393137 + RNA DEL A A - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 63393137 63393137 A - DEL ENSG00000216072 ENST00000401253 human ensembl 74_37 -1 novel rna NULL NULL 0.228 - - - no_errors AL589736.1 Clone_based_ensembl_gene ENSG00000216072 tier1 68 0 0.00 53 13 19.70 ENSG00000217702 0 genome.wustl.edu 37 2 74361865 74361865 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 74361865 74361865 G A SNP ENSG00000217702 ENST00000401851 human ensembl 74_37 +1 novel missense c.55 p.V19M 0.000 NULL NULL - no_errors MGC10955 Uniprot_gn ENSG00000217702 tier1 - - 133 0 0.00 55 68 55.28 ENSG00000221145 0 genome.wustl.edu 37 1 192460264 192460264 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 192460264 192460264 G A SNP ENSG00000221145 ENST00000408218 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AL136987.1 Clone_based_ensembl_gene ENSG00000221145 tier1 - - 80 0 0.00 81 5 5.81 ENSG00000221469 0 genome.wustl.edu 37 6 151361081 151361084 + RNA DEL CATG CATG - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 CATG CATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 151361081 151361084 CATG - DEL ENSG00000221469 ENST00000408542 human ensembl 74_37 -1 novel rna NULL NULL 0.002:0.003:0.003:0.004 - - - no_errors AL133260.1 Clone_based_ensembl_gene ENSG00000221469 tier1 19 0 0.00 8 3 27.27 ENSG00000228430 0 genome.wustl.edu 37 9 85043162 85043162 + RNA SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 85043162 85043162 C A SNP ENSG00000228430 ENST00000457558 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-15B24.5 Clone_based_vega_gene ENSG00000228430 tier1 - - 113 0 0.00 78 11 12.36 ENSG00000232274 0 genome.wustl.edu 37 1 143210314 143210314 + RNA SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 143210314 143210314 C T SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.045 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 165 0 0.00 196 18 8.41 ENSG00000233825 0 genome.wustl.edu 37 10 32635985 32635985 + RNA SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 32635985 32635985 A G SNP ENSG00000233825 ENST00000412085 human ensembl 74_37 +1 known rna NULL NULL 0.793 - - - no_errors RP11-135A24.4 Clone_based_vega_gene ENSG00000233825 tier1 - - 44 0 0.00 32 17 34.69 ENSG00000234222 0 genome.wustl.edu 37 1 145508406 145508406 + Splice_Site SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 145508406 145508406 C T SNP ENSG00000234222 ENST00000596355 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-315I20.1 Clone_based_vega_gene ENSG00000234222 tier1 - - 58 0 0.00 52 11 17.46 ENSG00000253125 0 genome.wustl.edu 37 8 22547685 22547685 + RNA SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 22547685 22547685 C T SNP ENSG00000253125 ENST00000523627 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors RP11-459E5.1 Clone_based_vega_gene ENSG00000253125 tier1 - - 84 0 0.00 32 16 33.33 ENSG00000272299 0 genome.wustl.edu 37 13 64411559 64411559 + RNA SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 13 64411559 64411559 A G SNP ENSG00000272299 ENST00000606894 human ensembl 74_37 -1 known rna NULL NULL 0.492 - - - no_errors RP11-394A14.4 Clone_based_vega_gene ENSG00000272299 tier1 - - 19 0 0.00 0 3 100.00 ENSG00000272780 0 genome.wustl.edu 37 17 21476993 21476993 + RNA SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 21476993 21476993 C T SNP ENSG00000272780 ENST00000426261 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-822E23.8 Clone_based_vega_gene ENSG00000272780 tier1 - - 36 0 0.00 3 5 62.50 ENSG00000272851 0 genome.wustl.edu 37 2 208618759 208618759 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 208618759 208618759 G A SNP ENSG00000272851 ENST00000609146 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors RP11-801F7.1 Clone_based_vega_gene ENSG00000272851 tier1 - - 55 0 0.00 58 7 10.77 EOMES 0 genome.wustl.edu 37 3 27761677 27761677 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 27761677 27761677 C T SNP EOMES ENST00000449599 human ensembl 74_37 -1 known missense c.1021 p.D341N 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 tier1 - - 48 0 0.00 29 21 41.18 EPB41L3 0 genome.wustl.edu 37 18 5415841 5415841 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 18 5415841 5415841 G T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2043 p.D681E 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,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 EPB41L3 HGNC ENSG00000082397 tier1 - - 30 0 0.00 4 4 50.00 EPHB6 0 genome.wustl.edu 37 7 142562098 142562098 + Silent SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 142562098 142562098 T C SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known silent c.540 p.A180 0.218 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 tier1 - - 41 0 0.00 17 8 32.00 ETV5 0 genome.wustl.edu 37 3 185797825 185797825 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 185797825 185797825 G A SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.557 p.T186I 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 tier1 - - 46 0 0.00 32 6 15.79 EXOC4 0 genome.wustl.edu 37 7 132973832 132973832 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 132973832 132973832 A G SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.433 p.M145V 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 tier1 - - 73 0 0.00 63 4 5.97 EYS 0 genome.wustl.edu 37 6 66205285 66205285 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 66205285 66205285 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.19 p.V7I 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 54 0 0.00 19 39 67.24 FAM3D 0 genome.wustl.edu 37 3 58639452 58639452 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 58639452 58639452 G T SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known silent c.70 p.R24 0.006 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 36 0 0.00 45 3 6.25 FAM53B 0 genome.wustl.edu 37 10 126370884 126370884 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 126370884 126370884 G T SNP FAM53B ENST00000337318 human ensembl 74_37 -1 known missense c.198 p.S66R 1.000 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 tier1 - - 98 0 0.00 67 4 5.63 FAM73A 0 genome.wustl.edu 37 1 78325008 78325008 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 78325008 78325008 G A SNP FAM73A ENST00000370791 human ensembl 74_37 +1 known missense c.1125 p.M375I 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 tier1 - - 105 0 0.00 100 9 8.26 FASTKD1 0 genome.wustl.edu 37 2 170387869 170387869 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 170387869 170387869 C A SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known missense c.2320 p.A774S 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 tier1 - - 80 0 0.00 63 4 5.80 FBXL7 0 genome.wustl.edu 37 5 15928392 15928392 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 15928392 15928392 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.521 p.T174I 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 tier1 - - 113 0 0.00 84 24 22.22 FCGBP 0 genome.wustl.edu 37 19 40398136 40398136 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 40398136 40398136 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.6831 p.A2277 0.318 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 35 0 0.00 1 2 66.67 FCRL2 0 genome.wustl.edu 37 1 157737413 157737413 + Nonsense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 157737413 157737413 C T SNP FCRL2 ENST00000469986 human ensembl 74_37 -1 known nonsense c.11 p.W4* 0.002 NULL pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 77 0 0.00 58 9 13.43 FCRL5 0 genome.wustl.edu 37 1 157490829 157490829 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 157490829 157490829 C T SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known silent c.2493 p.E831 0.200 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 48 0 0.00 58 5 7.94 FGD1 0 genome.wustl.edu 37 X 54482155 54482155 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 54482155 54482155 C T SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known silent c.1905 p.V635 0.984 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 tier1 - - 28 0 0.00 29 4 12.12 FLT3 0 genome.wustl.edu 37 13 28623578 28623578 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 13 28623578 28623578 A G SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.979 p.Y327H 0.933 pfam_Immunoglobulin,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 72 0 0.00 9 58 86.57 FMO6P 0 genome.wustl.edu 37 1 171115569 171115569 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 171115569 171115569 A T SNP FMO6P ENST00000236166 human ensembl 74_37 +1 novel missense c.395 p.D132V 0.996 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_3 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1 - no_errors FMO6P HGNC ENSG00000117507 tier1 - - 153 0 0.00 61 82 56.94 FOXD4L6 0 genome.wustl.edu 37 9 69200466 69200466 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 69200466 69200466 A T SNP FOXD4L6 ENST00000377473 human ensembl 74_37 -1 novel missense c.1147 p.F383I 0.006 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L6 HGNC ENSG00000204793 tier1 - - 42 0 0.00 24 11 31.43 FOXM1 0 genome.wustl.edu 37 12 2968143 2968143 + Silent SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 2968143 2968143 A G SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known silent c.2067 p.P689 0.733 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 54 0 0.00 41 4 8.70 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74808621 74808621 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 74808621 74808621 G C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1120 p.E374Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 78 0 0.00 40 27 40.30 FREM1 0 genome.wustl.edu 37 9 14750163 14750163 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 14750163 14750163 T A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.5522 p.K1841M 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 62 0 0.00 37 2 5.13 FSD2 0 genome.wustl.edu 37 15 83437778 83437778 + Silent SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 15 83437778 83437778 A T SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known silent c.1407 p.P469 0.903 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 tier1 - - 120 0 0.00 85 13 13.27 FSIP2 0 genome.wustl.edu 37 2 186657076 186657076 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 186657076 186657076 T A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.5480 p.I1827N 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 86 0 0.00 30 25 45.45 FTX 0 genome.wustl.edu 37 X 73289384 73289384 + RNA SNP T T G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 73289384 73289384 T G SNP FTX ENST00000602420 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FTX HGNC ENSG00000230590 tier1 - - 12 0 0.00 0 7 100.00 FTX 0 genome.wustl.edu 37 X 73289385 73289385 + RNA SNP A A C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 73289385 73289385 A C SNP FTX ENST00000602420 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors FTX HGNC ENSG00000230590 tier1 - - 12 0 0.00 0 7 100.00 FZD9 0 genome.wustl.edu 37 7 72849721 72849721 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 72849721 72849721 G A SNP FZD9 ENST00000344575 human ensembl 74_37 +1 known missense c.1384 p.V462I 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD9 HGNC ENSG00000188763 tier1 - - 102 0 0.00 58 41 41.41 GK5 0 genome.wustl.edu 37 3 141896352 141896352 + Frame_Shift_Del DEL C C - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 141896352 141896352 C 0 DEL GK5 ENST00000392993 human ensembl 74_37 -1 known frame_shift_del c.1115 p.C372fs 1.000 pfam_Carb_kinase_FGGY_C pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 153 0 0.00 171 12 6.56 GLB1L3 0 genome.wustl.edu 37 11 134183296 134183296 + Nonsense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 134183296 134183296 C T SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known nonsense c.1507 p.R503* 0.008 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 tier1 - - 37 0 0.00 27 3 9.38 GLCE 0 genome.wustl.edu 37 15 69548309 69548309 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 15 69548309 69548309 G C SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.164 p.R55T 0.944 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 tier1 - - 117 0 0.00 78 11 12.09 GLG1 0 genome.wustl.edu 37 16 74516995 74516995 + Silent SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 74516995 74516995 T C SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known silent c.1599 p.L533 0.987 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 tier1 - - 58 0 0.00 9 24 72.73 GLT1D1 0 genome.wustl.edu 37 12 129442176 129442176 + Missense_Mutation SNP T T G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 129442176 129442176 T G SNP GLT1D1 ENST00000442111 human ensembl 74_37 +1 known missense c.867 p.F289L 0.890 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 tier1 - - 80 0 0.00 74 19 20.43 GPATCH3 0 genome.wustl.edu 37 1 27226872 27226872 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 27226872 27226872 G T SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known missense c.62 p.P21H 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 tier1 rs148620476 - 90 0 0.00 88 5 5.38 GREB1L 0 genome.wustl.edu 37 18 18964298 18964298 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 18 18964298 18964298 G T SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.289 p.D97Y 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 96 0 0.00 57 4 6.56 GRIA1 0 genome.wustl.edu 37 5 153190725 153190725 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 153190725 153190725 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.2691 p.M897I 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 66 0 0.00 22 2 8.33 GRID1 0 genome.wustl.edu 37 10 87487698 87487698 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 87487698 87487698 C T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1447 p.E483K 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 79 0 0.00 33 4 10.81 GRIK5 0 genome.wustl.edu 37 19 42510094 42510094 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 42510094 42510094 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.2044 p.R682W 0.991 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 24 0 0.00 3 18 85.71 GSN-AS1 0 genome.wustl.edu 37 9 124046875 124046875 + RNA SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 124046875 124046875 C A SNP GSN-AS1 ENST00000414544 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GSN-AS1 HGNC ENSG00000235865 tier1 - - 67 0 0.00 34 4 10.53 HCN1 0 genome.wustl.edu 37 5 45262384 45262384 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 45262384 45262384 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.2312 p.T771M 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 44 0 0.00 22 16 42.11 HERC2P4 0 genome.wustl.edu 37 16 32163470 32163470 + RNA SNP T T G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 32163470 32163470 T G SNP HERC2P4 ENST00000563904 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 206 0 0.00 73 30 29.13 HSF5 0 genome.wustl.edu 37 17 56544263 56544263 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 56544263 56544263 G T SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known missense c.1003 p.H335N 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 tier1 - - 79 0 0.00 48 4 7.69 HSP90AB2P 0 genome.wustl.edu 37 4 13339813 13339813 + RNA SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 13339813 13339813 G C SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AB2P HGNC ENSG00000205940 tier1 - - 114 0 0.00 44 6 12.00 HUWE1 0 genome.wustl.edu 37 X 53576031 53576031 + Frame_Shift_Del DEL C C - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 53576031 53576031 C - DEL HUWE1 ENST00000262854 human ensembl 74_37 -1 known frame_shift_del c.9924 p.R3309fs 0.001 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 21 0 0.00 28 2 6.67 IGF2-AS 0 genome.wustl.edu 37 11 2167570 2167570 + RNA SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 2167570 2167570 C A SNP IGF2-AS ENST00000381361 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors IGF2-AS HGNC ENSG00000099869 54 0 0.00 72 4 5.26 IGSF6 0 genome.wustl.edu 37 16 21655704 21655704 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 21655704 21655704 G A SNP IGSF6 ENST00000268389 human ensembl 74_37 -1 known silent c.441 p.L147 0.737 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF6 HGNC ENSG00000140749 tier1 - - 27 0 0.00 10 3 23.08 ILF3 0 genome.wustl.edu 37 19 10787873 10787873 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 10787873 10787873 C T SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.446 p.S149F 0.809 pfam_DZF,smart_DZF pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 60 0 0.00 54 3 5.26 IMPACT 0 genome.wustl.edu 37 18 22008835 22008835 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 18 22008835 22008835 G T SNP IMPACT ENST00000284202 human ensembl 74_37 +1 known silent c.168 p.V56 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors IMPACT HGNC ENSG00000154059 99 0 0.00 67 4 5.63 INO80D 0 genome.wustl.edu 37 2 206921201 206921201 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 206921201 206921201 C T SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.685 p.V229I 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 49 0 0.00 36 2 5.26 INSR 0 genome.wustl.edu 37 19 7117386 7117386 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 7117386 7117386 G T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.3830 p.P1277H 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 - - 42 0 0.00 27 19 41.30 IPO5 0 genome.wustl.edu 37 13 98645242 98645242 + Nonsense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 13 98645242 98645242 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known nonsense c.820 p.E274* 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 tier1 - - 129 0 0.00 116 9 7.20 IQSEC1 0 genome.wustl.edu 37 3 12949999 12949999 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 12949999 12949999 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.2647 p.V883M 0.979 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 tier1 - - 60 0 0.00 54 13 19.40 ITGA9 0 genome.wustl.edu 37 3 37785459 37785459 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 37785459 37785459 C T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known silent c.2367 p.D789 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 tier1 - - 53 0 0.00 55 7 11.29 KCNA4 0 genome.wustl.edu 37 11 30032617 30032617 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 30032617 30032617 C A SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.1609 p.G537C 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 79 0 0.00 50 26 34.21 KCNG1 0 genome.wustl.edu 37 20 49621054 49621054 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 49621054 49621054 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.1064 p.R355H 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 26 0 0.00 32 8 20.00 KCNH6 0 genome.wustl.edu 37 17 61621399 61621399 + Missense_Mutation SNP T T G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 61621399 61621399 T G SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.2260 p.F754V 0.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 tier1 - - 51 0 0.00 33 6 15.38 KDM2B 0 genome.wustl.edu 37 12 121891050 121891050 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 121891050 121891050 G A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.1832 p.T611M 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 tier1 - - 48 0 0.00 34 5 12.50 KEL 0 genome.wustl.edu 37 7 142649645 142649645 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 142649645 142649645 C T SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.1154 p.R385H 0.084 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 tier1 - - 49 0 0.00 45 4 8.16 KIAA0196 0 genome.wustl.edu 37 8 126059506 126059506 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 126059506 126059506 T A SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.2447 p.E816V 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 tier1 - - 87 0 0.00 95 9 8.65 KIAA1549L 0 genome.wustl.edu 37 11 33566864 33566864 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 33566864 33566864 A T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.2452 p.T818S 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 42 0 0.00 40 5 11.11 KIAA2022 0 genome.wustl.edu 37 X 73963510 73963510 + Nonsense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 73963510 73963510 G C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known nonsense c.882 p.Y294* 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 18 0 0.00 27 4 12.90 KIF26B 0 genome.wustl.edu 37 1 245848714 245848714 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 245848714 245848714 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.2429 p.S810F 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 52 0 0.00 48 4 7.69 KLK1 0 genome.wustl.edu 37 19 51323186 51323186 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 51323186 51323186 C T SNP KLK1 ENST00000301420 human ensembl 74_37 -1 known missense c.602 p.G201E 0.992 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK1 HGNC ENSG00000167748 tier1 - - 58 0 0.00 19 4 17.39 LCE2C 0 genome.wustl.edu 37 1 152648708 152648708 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 152648708 152648708 C G SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known missense c.217 p.L73V 0.991 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 tier1 - - 102 0 0.00 89 10 10.10 LCN2 0 genome.wustl.edu 37 9 130913920 130913920 + Silent SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 130913920 130913920 A G SNP LCN2 ENST00000373013 human ensembl 74_37 +1 known silent c.285 p.K95 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 105 0 0.00 67 4 5.63 LDHD 0 genome.wustl.edu 37 16 75149180 75149180 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 75149180 75149180 C T SNP LDHD ENST00000300051 human ensembl 74_37 -1 known silent c.243 p.L81 1.000 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 tier1 - - 44 0 0.00 16 6 27.27 LEPRE1 0 genome.wustl.edu 37 1 43212460 43212460 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 43212460 43212460 G T SNP LEPRE1 ENST00000296388 human ensembl 74_37 -1 known missense c.2119 p.Q707K 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 58 0 0.00 72 4 5.13 LETM2 0 genome.wustl.edu 37 8 38250446 38250446 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 38250446 38250446 A T SNP LETM2 ENST00000379957 human ensembl 74_37 +1 known missense c.434 p.K145I 1.000 pfam_LETM1 pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 tier1 - - 54 0 0.00 72 4 5.26 LHCGR 0 genome.wustl.edu 37 2 48982684 48982684 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 48982684 48982684 G A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.127 p.R43C 1.000 prints_LSH_rcpt pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 57 0 0.00 24 5 17.24 LOC100505989 0 genome.wustl.edu 37 4 165691579 165691579 + RNA SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 165691579 165691579 G C SNP LOC100505989 ENST00000507311 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-294O2.2 Clone_based_vega_gene ENSG00000248771 tier1 - - 74 0 0.00 30 4 11.76 LOC101927572 0 genome.wustl.edu 37 19 36510260 36510260 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 36510260 36510260 G A SNP LOC101927572 ENST00000586962 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC002116.7 Clone_based_vega_gene ENSG00000267698 tier1 - - 31 0 0.00 4 20 83.33 LOC202181 0 genome.wustl.edu 37 5 177099140 177099140 + RNA SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 177099140 177099140 T A SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 22 0 0.00 13 3 18.75 LOC285556 0 genome.wustl.edu 37 4 100573624 100573624 + Missense_Mutation SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 100573624 100573624 T C SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.2182 p.I728V 0.926 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 101 0 0.00 39 16 29.09 LPIN1 0 genome.wustl.edu 37 2 11944685 11944685 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 11944685 11944685 G T SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.2297 p.G766V 1.000 pfam_LNS2,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 tier1 - - 66 0 0.00 62 4 6.06 LRIG3 0 genome.wustl.edu 37 12 59270234 59270234 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 59270234 59270234 G A SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known silent c.2688 p.D896 0.998 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 tier1 - - 74 0 0.00 35 36 50.70 LRRC66 0 genome.wustl.edu 37 4 52861277 52861277 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 52861277 52861277 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known silent c.1911 p.Q637 0.017 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 tier1 - - 46 0 0.00 17 4 18.18 LRRFIP2 0 genome.wustl.edu 37 3 37154444 37154444 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 37154444 37154444 T A SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known missense c.400 p.M134L 0.819 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 tier1 - - 46 0 0.00 69 4 5.48 LTF 0 genome.wustl.edu 37 3 46480843 46480843 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 46480843 46480843 C T SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.1852 p.V618M 0.998 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 tier1 - - 49 0 0.00 36 17 32.08 LUZP1 0 genome.wustl.edu 37 1 23415507 23415507 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 23415507 23415507 G T SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known missense c.3112 p.Q1038K 0.048 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 tier1 - - 57 0 0.00 34 4 10.26 MALAT1 0 genome.wustl.edu 37 11 65266463 65266463 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 65266463 65266463 G A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 62 0 0.00 90 7 7.22 MAOA 0 genome.wustl.edu 37 X 43587477 43587477 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 43587477 43587477 C G SNP MAOA ENST00000338702 human ensembl 74_37 +1 known missense c.561 p.H187Q 0.827 pfam_Amino_oxidase,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 tier1 - - 29 0 0.00 25 29 53.70 MAP1B 0 genome.wustl.edu 37 5 71495810 71495810 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 71495810 71495810 C G SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.6628 p.P2210A 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 68 0 0.00 35 3 7.89 MAP1S 0 genome.wustl.edu 37 19 17844002 17844002 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 17844002 17844002 G A SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.2789 p.G930E 0.909 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 tier1 - - 93 0 0.00 85 14 14.14 MAP3K13 0 genome.wustl.edu 37 3 185198052 185198052 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 185198052 185198052 A T SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known missense c.2534 p.Y845F 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 62 0 0.00 63 4 5.97 MARCH2 0 genome.wustl.edu 37 19 8495623 8495623 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 8495623 8495623 G T SNP MARCH2 ENST00000215555 human ensembl 74_37 +1 known missense c.454 p.A152S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH2 HGNC ENSG00000099785 64 0 0.00 49 3 5.77 MATK 0 genome.wustl.edu 37 19 3784834 3784834 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 3784834 3784834 T A SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.124 p.R42W 0.992 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,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 - no_errors MATK HGNC ENSG00000007264 tier1 - - 98 0 0.00 52 23 30.26 MCCC2 0 genome.wustl.edu 37 5 70898353 70898353 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 70898353 70898353 C T SNP MCCC2 ENST00000340941 human ensembl 74_37 +1 known missense c.404 p.A135V 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 131 0 0.00 69 4 5.48 MCM10 0 genome.wustl.edu 37 10 13214405 13214405 + Nonsense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 13214405 13214405 A T SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known nonsense c.379 p.K127* 1.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 49 0 0.00 59 4 6.35 MCM3 0 genome.wustl.edu 37 6 52149415 52149415 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 52149415 52149415 G T SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known missense c.193 p.L65M 1.000 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 52 0 0.00 70 4 5.41 MCM9 0 genome.wustl.edu 37 6 119243235 119243235 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 119243235 119243235 A T SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known missense c.638 p.V213D 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 tier1 - - 80 0 0.00 43 28 39.44 MDH1 0 genome.wustl.edu 37 2 63834065 63834065 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 63834065 63834065 G T SNP MDH1 ENST00000539945 human ensembl 74_37 +1 known missense c.1003 p.A335S 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC ENSG00000014641 82 0 0.00 71 4 5.33 MDN1 0 genome.wustl.edu 37 6 90392997 90392997 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 90392997 90392997 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.11956 p.R3986W 0.997 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 74 0 0.00 47 51 52.04 MED13L 0 genome.wustl.edu 37 12 116444176 116444176 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 116444176 116444176 C T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.2279 p.G760D 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 73 0 0.00 57 4 6.56 MIR3908 0 genome.wustl.edu 37 12 124021053 124021053 + RNA SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 124021053 124021053 G T SNP MIR3908 ENST00000579798 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors MIR3908 HGNC ENSG00000266655 46 0 0.00 40 6 13.04 MIR519C 0 genome.wustl.edu 37 19 54189728 54189728 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 54189728 54189728 G A SNP MIR519C ENST00000385053 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MIR519C HGNC ENSG00000207788 tier1 - - 225 0 0.00 100 49 32.89 MIR519C 0 genome.wustl.edu 37 19 54189729 54189729 + RNA SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 54189729 54189729 C A SNP MIR519C ENST00000385053 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR519C HGNC ENSG00000207788 tier1 - - 229 0 0.00 101 48 32.21 MIR720 0 genome.wustl.edu 37 3 164059156 164059156 + RNA SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 164059156 164059156 C A SNP MIR720 ENST00000408828 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors MIR720 HGNC ENSG00000221755 tier1 - - 178 0 0.00 104 31 22.96 MRE11A 0 genome.wustl.edu 37 11 94153333 94153335 + In_Frame_Del DEL ATC ATC - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 94153333 94153335 ATC - DEL MRE11A ENST00000323929 human ensembl 74_37 -1 known in_frame_del c.2085_2083 p.D695in_frame_del 0.990:1.000:1.000 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 tier1 28 0 0.00 27 2 6.90 MST1R 0 genome.wustl.edu 37 3 49924846 49924846 + Frame_Shift_Del DEL C C - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 49924846 49924846 C - DEL MST1R ENST00000296474 human ensembl 74_37 -1 known frame_shift_del c.4097 p.S1366fs 0.003 pirsf_Tyr_kinase_HGF/MSP_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 62 0 0.00 75 9 10.71 MST1R 0 genome.wustl.edu 37 3 49924847 49924847 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 49924847 49924847 T A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.4096 p.S1366C 0.002 pirsf_Tyr_kinase_HGF/MSP_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 - - 61 0 0.00 74 11 12.94 MST1R 0 genome.wustl.edu 37 3 49924848 49924848 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 49924848 49924848 G A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known silent c.4095 p.P1365 0.012 pirsf_Tyr_kinase_HGF/MSP_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 - - 62 0 0.00 75 10 11.76 MT-ATP6 0 genome.wustl.edu 37 MT 8635 8635 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 MT 8635 8635 C A SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known missense c.109 p.L37I NULL pfam_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 73 0 0.00 18 2 10.00 MT-ATP6 0 genome.wustl.edu 37 MT 9024 9024 + Silent SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 MT 9024 9024 A G SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known silent c.498 p.A166 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 53 0 0.00 9 2 18.18 MT-CO1 0 genome.wustl.edu 37 MT 6262 6262 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 MT 6262 6262 C T SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.359 p.A120V NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 91 0 0.00 12 2 14.29 MT-CO1 0 genome.wustl.edu 37 MT 6409 6409 + Missense_Mutation SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 MT 6409 6409 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.506 p.I169T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 59 0 0.00 17 2 10.53 MT-CO1 0 genome.wustl.edu 37 MT 6709 6709 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 MT 6709 6709 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.806 p.G269E NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 51 0 0.00 2 17 89.47 MT-CO1 0 genome.wustl.edu 37 MT 6871 6871 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 MT 6871 6871 G C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.968 p.W323S NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 58 0 0.00 3 9 75.00 MTOR 0 genome.wustl.edu 37 1 11291476 11291476 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 11291476 11291476 G T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.2530 p.L844M 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 67 0 0.00 57 4 6.56 MUC5B 0 genome.wustl.edu 37 11 1278475 1278475 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 1278475 1278475 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.16252 p.V5418M 1.000 smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 52 0 0.00 28 14 33.33 MVB12A 0 genome.wustl.edu 37 19 17534606 17534606 + Nonsense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 17534606 17534606 C T SNP MVB12A ENST00000528515 human ensembl 74_37 +1 putative nonsense c.511 p.Q171* 1.000 NULL pfam_FAM125 - no_errors MVB12A HGNC ENSG00000141971 tier1 - - 42 0 0.00 17 10 37.04 MYF6 0 genome.wustl.edu 37 12 81101966 81101966 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 81101966 81101966 G A SNP MYF6 ENST00000228641 human ensembl 74_37 +1 known silent c.468 p.K156 0.990 superfamily_bHLH_dom pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 tier1 - - 59 0 0.00 37 27 42.19 MYPOP 0 genome.wustl.edu 37 19 46393982 46393982 + Frame_Shift_Del DEL G G - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 46393982 46393982 G - DEL MYPOP ENST00000322217 human ensembl 74_37 -1 known frame_shift_del c.1099 p.R367fs 0.008 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYPOP HGNC ENSG00000176182 tier1 11 0 0.00 12 2 14.29 NCEH1 0 genome.wustl.edu 37 3 172365675 172365675 + Frame_Shift_Del DEL C C - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 172365675 172365675 C - DEL NCEH1 ENST00000538775 human ensembl 74_37 -1 known frame_shift_del c.464 p.S155fs 1.000 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 tier1 68 0 0.00 25 39 60.94 NCOA7 0 genome.wustl.edu 37 6 126242133 126242133 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 126242133 126242133 C T SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known silent c.2289 p.S763 0.985 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 21 0 0.00 43 4 8.51 NECAB3 0 genome.wustl.edu 37 20 32245619 32245619 + RNA SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 32245619 32245619 C T SNP NECAB3 ENST00000477778 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NECAB3 HGNC ENSG00000125967 tier1 - - 190 0 0.00 164 20 10.81 NEK11 0 genome.wustl.edu 37 3 131068486 131068486 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 131068486 131068486 G T SNP NEK11 ENST00000383366 human ensembl 74_37 +1 known missense c.1804 p.A602S 0.346 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 tier1 - - 55 0 0.00 57 4 6.56 NEK8 0 genome.wustl.edu 37 17 27065181 27065181 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 27065181 27065181 C T SNP NEK8 ENST00000543014 human ensembl 74_37 +1 known missense c.1300 p.H434Y 0.848 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 tier1 - - 27 0 0.00 23 5 17.86 NEK8 0 genome.wustl.edu 37 17 27065702 27065702 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 27065702 27065702 C G SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.1236 p.I412M 1.000 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 tier1 - - 88 0 0.00 37 11 22.45 NEK8 0 genome.wustl.edu 37 17 27065759 27065759 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 27065759 27065759 C T SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known silent c.1293 p.I431 0.993 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 tier1 - - 94 0 0.00 58 12 17.14 NEK8 0 genome.wustl.edu 37 17 27065186 27065186 + Nonsense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 27065186 27065186 C A SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known nonsense c.1145 p.S382* 1.000 superfamily_RCC1/BLIP-II pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 27 0 0.00 24 4 14.29 NEO1 0 genome.wustl.edu 37 15 73590919 73590919 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 15 73590919 73590919 G A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.4132 p.A1378T 0.937 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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 NEO1 HGNC ENSG00000067141 66 0 0.00 52 3 5.45 NES 0 genome.wustl.edu 37 1 156646855 156646855 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 156646855 156646855 C T SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.202 p.D68N 1.000 pfam_IF pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 16 0 0.00 15 12 44.44 NLRP13 0 genome.wustl.edu 37 19 56410155 56410155 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 56410155 56410155 G A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.2938 p.R980C 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 tier1 - - 33 0 0.00 28 35 55.56 NLRP3 0 genome.wustl.edu 37 1 247588786 247588786 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 247588786 247588786 C A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.2041 p.L681M 0.998 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 tier1 - - 118 0 0.00 46 47 50.54 NLRP9 0 genome.wustl.edu 37 19 56244334 56244334 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 56244334 56244334 C A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.863 p.R288L 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 51 0 0.00 29 2 6.45 NLRX1 0 genome.wustl.edu 37 11 119044614 119044614 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 119044614 119044614 G T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.656 p.R219L 1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 tier1 - - 38 0 0.00 10 3 23.08 NR4A2 0 genome.wustl.edu 37 2 157186128 157186128 + Frame_Shift_Del DEL G G - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 157186128 157186128 G - DEL NR4A2 ENST00000539077 human ensembl 74_37 -1 known frame_shift_del c.604 p.Q202fs 1.000 prints_NURR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 tier1 98 0 0.00 69 17 19.77 NT5C1A 0 genome.wustl.edu 37 1 40129067 40129067 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 40129067 40129067 C T SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.473 p.S158N 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 tier1 - - 100 0 0.00 93 23 19.83 NUP43 0 genome.wustl.edu 37 6 150052823 150052823 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 150052823 150052823 C T SNP NUP43 ENST00000340413 human ensembl 74_37 -1 known missense c.839 p.C280Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 tier1 - - 102 0 0.00 90 17 15.89 OLFML2B 0 genome.wustl.edu 37 1 161967645 161967645 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 161967645 161967645 C T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1444 p.E482K 0.645 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 42 0 0.00 46 22 32.35 OMA1 0 genome.wustl.edu 37 1 59002262 59002262 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 59002262 59002262 G C SNP OMA1 ENST00000371226 human ensembl 74_37 -1 known missense c.652 p.P218A 1.000 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 tier1 - - 88 0 0.00 69 15 17.44 OR10P1 0 genome.wustl.edu 37 12 56030744 56030744 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 56030744 56030744 G A SNP OR10P1 ENST00000309675 human ensembl 74_37 +1 known silent c.69 p.L23 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10P1 HGNC ENSG00000175398 tier1 - - 63 0 0.00 72 4 5.19 OR4K1 0 genome.wustl.edu 37 14 20404162 20404162 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 14 20404162 20404162 A G SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known missense c.337 p.M113V 0.061 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 tier1 - - 42 0 0.00 7 17 70.83 OR52A4 0 genome.wustl.edu 37 11 5142749 5142749 + RNA SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 5142749 5142749 C G SNP OR52A4 ENST00000481634 human ensembl 74_37 -1 known rna NULL NULL 0.976 - - - no_errors OR52A4 HGNC ENSG00000205494 tier1 - - 75 0 0.00 36 9 20.00 OR6P1 0 genome.wustl.edu 37 1 158533368 158533368 + Silent SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 158533368 158533368 G C SNP OR6P1 ENST00000334632 human ensembl 74_37 -1 known silent c.27 p.V9 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6P1 HGNC ENSG00000186440 57 0 0.00 71 4 5.33 OR8K3 0 genome.wustl.edu 37 11 56086212 56086212 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 56086212 56086212 C T SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known silent c.430 p.L144 0.158 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 tier1 - - 39 0 0.00 30 9 23.08 ORC3 0 genome.wustl.edu 37 6 88318993 88318993 + RNA SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 88318993 88318993 G C SNP ORC3 ENST00000478028 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ORC3 HGNC ENSG00000135336 tier1 - - 104 0 0.00 139 15 9.74 OTUD4 0 genome.wustl.edu 37 4 146077125 146077125 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 146077125 146077125 G T SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.653 p.A218D 0.904 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 110 0 0.00 58 4 6.45 PACS1 0 genome.wustl.edu 37 11 65983997 65983999 + In_Frame_Del DEL CTC CTC - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 65983997 65983999 CTC - DEL PACS1 ENST00000320580 human ensembl 74_37 +1 known in_frame_del c.812_814 p.P272in_frame_del 1.000:0.940:1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 tier1 80 0 0.00 64 19 22.89 PAOX 0 genome.wustl.edu 37 10 135202509 135202509 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 135202509 135202509 A T SNP PAOX ENST00000278060 human ensembl 74_37 +1 known missense c.1171 p.M391L 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 tier1 - - 71 0 0.00 46 11 19.30 PAPSS2 0 genome.wustl.edu 37 10 89475508 89475508 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 89475508 89475508 A G SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known missense c.773 p.Q258R 1.000 superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 tier1 - - 88 0 0.00 72 4 5.26 PBX3 0 genome.wustl.edu 37 9 128724437 128724437 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 128724437 128724437 A T SNP PBX3 ENST00000373489 human ensembl 74_37 +1 known missense c.1066 p.S356C 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX3 HGNC ENSG00000167081 tier1 - - 66 0 0.00 42 7 14.29 PCDHGB4 0 genome.wustl.edu 37 5 140768871 140768871 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 140768871 140768871 G C SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1420 p.A474P 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 PCDHGB4 HGNC ENSG00000253953 38 0 0.00 20 2 9.09 PCDP1 0 genome.wustl.edu 37 2 120388409 120388409 + Missense_Mutation SNP T T G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 120388409 120388409 T G SNP PCDP1 ENST00000413369 human ensembl 74_37 +1 known missense c.1906 p.S636A 0.280 NULL NULL - no_errors PCDP1 Uniprot_gn ENSG00000163075 tier1 - - 44 0 0.00 34 8 19.05 PCNXL3 0 genome.wustl.edu 37 11 65396125 65396125 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 65396125 65396125 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known silent c.3762 p.I1254 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 63 0 0.00 35 30 46.15 PDE4C 0 genome.wustl.edu 37 19 18366121 18366122 + RNA INS - - GCG TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 18366121 18366122 - GCG INS PDE4C ENST00000596647 human ensembl 74_37 -1 known rna NULL NULL 0.111:0.055 - - - no_errors PDE4C HGNC ENSG00000105650 tier1 20 0 0.00 29 11 27.50 PDZD2 0 genome.wustl.edu 37 5 32058012 32058012 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 32058012 32058012 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2003 p.T668M 0.987 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 50 0 0.00 27 18 40.00 PEX5 0 genome.wustl.edu 37 12 7343151 7343151 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 7343151 7343151 G C SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known missense c.178 p.A60P 0.005 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 tier1 - - 47 0 0.00 17 4 19.05 PHF13 0 genome.wustl.edu 37 1 6680031 6680031 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 6680031 6680031 A G SNP PHF13 ENST00000377648 human ensembl 74_37 +1 known missense c.310 p.S104G 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 tier1 - - 48 0 0.00 31 4 11.43 PHF19 0 genome.wustl.edu 37 9 123632171 123632171 + Frame_Shift_Del DEL C C - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 123632171 123632171 C - DEL PHF19 ENST00000373896 human ensembl 74_37 -1 known frame_shift_del c.417 p.L140fs 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 tier1 45 0 0.00 37 2 5.13 PHF21B 0 genome.wustl.edu 37 22 45279122 45279122 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 22 45279122 45279122 G T SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known missense c.1440 p.D480E 0.997 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 65 0 0.00 37 25 40.32 PI4K2B 0 genome.wustl.edu 37 4 25254044 25254044 + Nonsense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 25254044 25254044 G T SNP PI4K2B ENST00000264864 human ensembl 74_37 +1 known nonsense c.370 p.E124* 1.000 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 tier1 - - 41 0 0.00 28 3 9.68 PIK3CD 0 genome.wustl.edu 37 1 9778916 9778916 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 9778916 9778916 C T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known silent c.1080 p.Y360 0.982 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 tier1 - - 81 0 0.00 107 6 5.31 PIKFYVE 0 genome.wustl.edu 37 2 209195411 209195411 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 209195411 209195411 G A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.3956 p.C1319Y 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 85 0 0.00 74 4 5.13 PIP5K1C 0 genome.wustl.edu 37 19 3653585 3653585 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 3653585 3653585 G A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.624 p.N208 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 tier1 - - 76 0 0.00 41 63 60.58 PITPNM2 0 genome.wustl.edu 37 12 123471955 123471955 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 123471955 123471955 T A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.3286 p.S1096C 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 44 0 0.00 46 4 8.00 PKP4 0 genome.wustl.edu 37 2 159537052 159537052 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 159537052 159537052 G T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.3442 p.V1148F 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 - - 86 0 0.00 69 4 5.48 PLEC 0 genome.wustl.edu 37 8 145018819 145018819 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 145018819 145018819 G A SNP PLEC ENST00000398774 human ensembl 74_37 -1 known missense c.13 p.P5S 1.000 superfamily_CH-domain pfam_Plectin_repeat,pfam_CH-domain,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 36 0 0.00 43 4 8.51 PLEKHG5 0 genome.wustl.edu 37 1 6531119 6531119 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 6531119 6531119 C A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1560 p.E520D 1.000 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 PLEKHG5 HGNC ENSG00000171680 24 0 0.00 46 3 6.12 PLIN5 0 genome.wustl.edu 37 19 4529803 4529803 + Nonsense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 4529803 4529803 G T SNP PLIN5 ENST00000381848 human ensembl 74_37 -1 known nonsense c.332 p.S111* 0.995 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 tier1 - - 108 0 0.00 67 4 5.63 PLXND1 0 genome.wustl.edu 37 3 129284760 129284760 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 129284760 129284760 T A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.4292 p.E1431V 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 tier1 - - 71 0 0.00 70 10 12.50 PNISR 0 genome.wustl.edu 37 6 99857222 99857222 + Splice_Site SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 99857222 99857222 T C SNP PNISR ENST00000369239 human ensembl 74_37 -1 known splice_site c.502-2 e4-2 1.000 - - - no_errors PNISR HGNC ENSG00000132424 11 0 0.00 19 2 9.52 POLR3G 0 genome.wustl.edu 37 5 89802443 89802443 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 89802443 89802443 C T SNP POLR3G ENST00000399107 human ensembl 74_37 +1 known silent c.537 p.D179 0.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3G HGNC ENSG00000113356 129 0 0.00 46 3 6.12 POSTN 0 genome.wustl.edu 37 13 38144910 38144910 + RNA SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 13 38144910 38144910 C A SNP POSTN ENST00000473823 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POSTN HGNC ENSG00000133110 tier1 - - 25 0 0.00 9 8 47.06 PRND 0 genome.wustl.edu 37 20 4705275 4705275 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 4705275 4705275 G A SNP PRND ENST00000305817 human ensembl 74_37 +1 known silent c.78 p.T26 0.000 pfam_Doppel pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 tier1 - - 102 0 0.00 56 9 13.85 PTPN9 0 genome.wustl.edu 37 15 75798224 75798224 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 15 75798224 75798224 C T SNP PTPN9 ENST00000306726 human ensembl 74_37 -1 known missense c.760 p.V254M 1.000 superfamily_CRAL-TRIO_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 125 0 0.00 75 7 8.54 PTPRD 0 genome.wustl.edu 37 9 8500925 8500925 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 8500925 8500925 C G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1957 p.D653H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 133 0 0.00 122 11 8.27 PTPRH 0 genome.wustl.edu 37 19 55715273 55715273 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 55715273 55715273 G T SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known silent c.763 p.R255 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 tier1 - - 66 0 0.00 45 5 10.00 PXDN 0 genome.wustl.edu 37 2 1667391 1667391 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 1667391 1667391 G T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1553 p.T518N 0.026 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 73 0 0.00 55 4 6.78 QPRT 0 genome.wustl.edu 37 16 29708754 29708754 + RNA SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 29708754 29708754 C T SNP QPRT ENST00000219771 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors QPRT HGNC ENSG00000103485 tier1 - - 65 0 0.00 32 10 23.81 QSOX1 0 genome.wustl.edu 37 1 180151330 180151330 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 180151330 180151330 C G SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.628 p.H210D 0.804 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 tier1 - - 75 0 0.00 58 23 28.40 RARA 0 genome.wustl.edu 37 17 38508238 38508238 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 38508238 38508238 G A SNP RARA ENST00000254066 human ensembl 74_37 +1 known silent c.546 p.P182 0.220 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARA HGNC ENSG00000131759 tier1 rs200393055 - 64 0 0.00 63 8 11.27 RASAL3 0 genome.wustl.edu 37 19 15572331 15572331 + Frame_Shift_Del DEL C C - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 15572331 15572331 C - DEL RASAL3 ENST00000343625 human ensembl 74_37 -1 known frame_shift_del c.416 p.G139fs 0.977 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 tier1 134 0 0.00 72 9 11.11 RASGRF2 0 genome.wustl.edu 37 5 80363981 80363981 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 80363981 80363981 G A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.526 p.E176K 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 56 0 0.00 32 2 5.88 RBM12B 0 genome.wustl.edu 37 8 94746686 94746686 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 94746686 94746686 G A SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known silent c.1953 p.F651 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 tier1 - - 155 0 0.00 172 25 12.69 RBMXL2 0 genome.wustl.edu 37 11 7111237 7111237 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 7111237 7111237 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.886 p.R296W 0.672 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 90 0 0.00 40 61 60.40 RBP3 0 genome.wustl.edu 37 10 48389059 48389059 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 48389059 48389059 G T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.1819 p.L607M 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 38 0 0.00 29 12 29.27 RSRC2 0 genome.wustl.edu 37 12 122995710 122995710 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 122995710 122995710 C G SNP RSRC2 ENST00000331738 human ensembl 74_37 -1 known missense c.751 p.E251Q 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 tier1 - - 56 0 0.00 57 8 12.31 SCARNA2 0 genome.wustl.edu 37 1 109643014 109643014 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 109643014 109643014 G A SNP SCARNA2 ENST00000458748 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors SCARNA2 HGNC ENSG00000270066 23 0 0.00 45 4 8.00 SCN9A 0 genome.wustl.edu 37 2 167056026 167056026 + Missense_Mutation SNP A A C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 167056026 167056026 A C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.5126 p.L1709R 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 99 0 0.00 62 7 10.14 SDK2 0 genome.wustl.edu 37 17 71389755 71389755 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 71389755 71389755 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.3842 p.R1281H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 21 0 0.00 12 3 20.00 SEC16B 0 genome.wustl.edu 37 1 177911145 177911145 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 177911145 177911145 C A SNP SEC16B ENST00000308284 human ensembl 74_37 -1 known missense c.1912 p.A638S 1.000 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 tier1 - - 78 0 0.00 63 24 27.59 SEC61A1 0 genome.wustl.edu 37 3 127788479 127788479 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 127788479 127788479 G A SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known missense c.1405 p.G469S 0.998 pirsf_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 tier1 - - 54 0 0.00 29 10 25.64 SERINC4 0 genome.wustl.edu 37 15 44087925 44087925 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 15 44087925 44087925 G A SNP SERINC4 ENST00000249714 human ensembl 74_37 -1 known silent c.418 p.L140 0.875 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC4 HGNC ENSG00000184716 17 0 0.00 9 7 43.75 SIGLEC17P 0 genome.wustl.edu 37 19 51671595 51671595 + RNA SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 51671595 51671595 C T SNP SIGLEC17P ENST00000341811 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC ENSG00000171101 tier1 - - 59 0 0.00 50 12 19.35 SIGLEC22P 0 genome.wustl.edu 37 19 51714747 51714747 + RNA SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 51714747 51714747 C A SNP SIGLEC22P ENST00000602065 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC22P HGNC ENSG00000268849 tier1 - - 81 0 0.00 24 11 31.43 SIK2 0 genome.wustl.edu 37 11 111594680 111594680 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 111594680 111594680 G T SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.2608 p.D870Y 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 64 0 0.00 29 2 6.45 SIMC1 0 genome.wustl.edu 37 5 175740726 175740726 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 5 175740726 175740726 G T SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known silent c.1710 p.L570 0.998 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 57 0 0.00 34 3 8.11 SLC17A4 0 genome.wustl.edu 37 6 25777055 25777055 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 25777055 25777055 C T SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.1136 p.S379F 0.002 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 54 0 0.00 49 7 12.50 SLC17A9 0 genome.wustl.edu 37 20 61588799 61588799 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 61588799 61588799 G T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.264 p.G88 0.983 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 tier1 - - 19 0 0.00 12 12 50.00 SLC17A9 0 genome.wustl.edu 37 20 61588815 61588815 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 61588815 61588815 C G SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known missense c.280 p.L94V 0.994 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 tier1 - - 20 0 0.00 12 14 53.85 SLC26A8 0 genome.wustl.edu 37 6 35923059 35923059 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 35923059 35923059 G A SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.2102 p.A701V 0.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 tier1 - - 63 0 0.00 64 5 7.25 SLC7A1 0 genome.wustl.edu 37 13 30088667 30088667 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 13 30088667 30088667 C A SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known missense c.1840 p.D614Y 0.899 NULL pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 tier1 - - 65 0 0.00 44 8 15.38 SLC7A14 0 genome.wustl.edu 37 3 170204024 170204024 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 170204024 170204024 G T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.893 p.T298K 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 46 0 0.00 46 3 6.12 SLCO5A1 0 genome.wustl.edu 37 8 70585409 70585409 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 70585409 70585409 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.2242 p.V748I 0.984 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 tier1 - - 40 0 0.00 30 10 25.00 SLITRK1 0 genome.wustl.edu 37 13 84455420 84455420 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 13 84455420 84455420 G A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.223 p.P75S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 49 0 0.00 46 3 6.12 SMO 0 genome.wustl.edu 37 7 128845112 128845112 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 128845112 128845112 C A SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.606 p.N202K 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 tier1 - - 54 0 0.00 54 11 16.92 SNTG2 0 genome.wustl.edu 37 2 1271152 1271152 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 1271152 1271152 G T SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1093 p.D365Y 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 57 0 0.00 26 11 29.73 SPTAN1 0 genome.wustl.edu 37 9 131339485 131339485 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 131339485 131339485 C G SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.863 p.A288G 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 88 0 0.00 69 8 10.39 STAM 0 genome.wustl.edu 37 10 17750914 17750914 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 17750914 17750914 C T SNP STAM ENST00000377524 human ensembl 74_37 +1 known missense c.1349 p.A450V 0.602 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 32 0 0.00 34 2 5.56 SUV420H1 0 genome.wustl.edu 37 11 67939153 67939153 + Nonsense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 11 67939153 67939153 A T SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known nonsense c.677 p.L226* 1.000 smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 - - 88 0 0.00 37 42 53.16 SV2A 0 genome.wustl.edu 37 1 149882465 149882465 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 149882465 149882465 C G SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.868 p.G290R 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 61 0 0.00 56 4 6.67 SWT1 0 genome.wustl.edu 37 1 185183639 185183639 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 185183639 185183639 C A SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.1973 p.A658D 1.000 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 tier1 - - 55 0 0.00 75 4 5.06 SYCP1 0 genome.wustl.edu 37 1 115438067 115438067 + Splice_Site SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 115438067 115438067 A G SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known splice_site c.1259-2 e15-2 1.000 - - - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 85 0 0.00 72 4 5.26 SYNM 0 genome.wustl.edu 37 15 99675526 99675526 + RNA SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 15 99675526 99675526 C G SNP SYNM ENST00000558420 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SYNM HGNC ENSG00000182253 tier1 - - 100 0 0.00 55 28 33.73 TACC2 0 genome.wustl.edu 37 10 123845396 123845396 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 123845396 123845396 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.3381 p.A1127 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 rs140254775 - 132 0 0.00 86 14 14.00 TAOK1 0 genome.wustl.edu 37 17 27822698 27822698 + Nonsense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 27822698 27822698 C T SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known nonsense c.952 p.Q318* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 tier1 - - 58 0 0.00 36 14 28.00 TAP2 0 genome.wustl.edu 37 6 32797731 32797731 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 32797731 32797731 C T SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.1771 p.E591K 0.015 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 tier1 - - 60 0 0.00 49 8 14.04 TAS1R2 0 genome.wustl.edu 37 1 19180780 19180780 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 19180780 19180780 A G SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.1184 p.V395A 0.998 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 32 0 0.00 61 5 7.58 TBPL1 0 genome.wustl.edu 37 6 134305574 134305574 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 134305574 134305574 A G SNP TBPL1 ENST00000237264 human ensembl 74_37 +1 known missense c.343 p.I115V 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBPL1 HGNC ENSG00000028839 tier1 - - 180 0 0.00 182 17 8.54 TCEA1 0 genome.wustl.edu 37 8 54891668 54891668 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 54891668 54891668 G T SNP TCEA1 ENST00000521604 human ensembl 74_37 -1 known missense c.742 p.H248N 1.000 pfam_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 52 0 0.00 41 3 6.67 TCHHL1 0 genome.wustl.edu 37 1 152058266 152058266 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 152058266 152058266 C A SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.1892 p.G631V 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 77 0 0.00 42 13 23.64 TCTE1 0 genome.wustl.edu 37 6 44254036 44254036 + Missense_Mutation SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 44254036 44254036 T C SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.511 p.T171A 0.991 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 tier1 - - 44 0 0.00 40 6 13.04 TEAD4 0 genome.wustl.edu 37 12 3149639 3149639 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 3149639 3149639 G A SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.1300 p.E434K 1.000 pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 tier1 - - 41 0 0.00 7 10 58.82 TEX101 0 genome.wustl.edu 37 19 43922138 43922138 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 43922138 43922138 G T SNP TEX101 ENST00000253435 human ensembl 74_37 +1 known missense c.554 p.G185V 0.981 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors TEX101 HGNC ENSG00000131126 tier1 - - 55 0 0.00 44 14 24.14 TEX15 0 genome.wustl.edu 37 8 30724896 30724896 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 30724896 30724896 G A SNP TEX15 ENST00000523186 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 102 0 0.00 24 22 47.83 TG 0 genome.wustl.edu 37 8 133920543 133920543 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 133920543 133920543 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.3960 p.F1320 0.083 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 78 0 0.00 48 6 11.11 TGIF2LX 0 genome.wustl.edu 37 X 89177107 89177107 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 89177107 89177107 C T SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.23 p.P8L 0.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 tier1 - - 91 0 0.00 13 80 86.02 TGM5 0 genome.wustl.edu 37 15 43525456 43525456 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 15 43525456 43525456 T A SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.2096 p.N699I 0.897 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 tier1 - - 62 0 0.00 35 9 20.45 TGM6 0 genome.wustl.edu 37 20 2411096 2411096 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 2411096 2411096 G C SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.1683 p.K561N 0.984 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 tier1 - - 82 0 0.00 54 12 18.18 TINAGL1 0 genome.wustl.edu 37 1 32052629 32052629 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 32052629 32052629 G A SNP TINAGL1 ENST00000463112 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TINAGL1 HGNC ENSG00000142910 tier1 - - 27 0 0.00 17 4 19.05 TLN2 0 genome.wustl.edu 37 15 63111820 63111820 + Nonsense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 15 63111820 63111820 G T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known nonsense c.6877 p.G2293* 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 30 0 0.00 17 4 19.05 TMEM131 0 genome.wustl.edu 37 2 98377310 98377310 + Nonsense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 98377310 98377310 T A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known nonsense c.4957 p.K1653* 0.850 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 tier1 - - 54 0 0.00 49 4 7.55 TMEM201 0 genome.wustl.edu 37 1 9658561 9658561 + Missense_Mutation SNP A A C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 9658561 9658561 A C SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known missense c.484 p.K162Q 1.000 pfam_Ima1_N pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 tier1 - - 117 0 0.00 79 24 23.30 TNFRSF25 0 genome.wustl.edu 37 1 6522067 6522067 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 6522067 6522067 G T SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known silent c.939 p.P313 0.747 prints_TNFR_25 pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 41 0 0.00 70 4 5.41 TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 - - 36 0 0.00 2 13 86.67 TRAM1L1 0 genome.wustl.edu 37 4 118006217 118006217 + Missense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 118006217 118006217 G C SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.333 p.F111L 1.000 pfam_TRAM1,pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 - - 100 0 0.00 11 34 75.56 TRANK1 0 genome.wustl.edu 37 3 36897779 36897779 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 36897779 36897779 A G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.3302 p.I1101T 0.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 36 0 0.00 17 16 48.48 TRIP10 0 genome.wustl.edu 37 19 6750420 6750420 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 6750420 6750420 G A SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.1513 p.A505T 0.000 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 tier1 - - 89 0 0.00 28 20 41.67 TRPM4 0 genome.wustl.edu 37 19 49699775 49699775 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 49699775 49699775 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.2289 p.C763 0.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 35 0 0.00 23 31 57.41 TRPV4 0 genome.wustl.edu 37 12 110252435 110252435 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 110252435 110252435 C T SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.167 p.R56H 0.998 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 tier1 - - 83 0 0.00 28 34 54.84 TSC2 0 genome.wustl.edu 37 16 2110683 2110683 + Missense_Mutation SNP C C G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 2110683 2110683 C G SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.988 p.P330A 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 53 0 0.00 18 6 25.00 TSHZ3 0 genome.wustl.edu 37 19 31768920 31768920 + Silent SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 31768920 31768920 A G SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.1779 p.S593 0.008 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 36 0 0.00 14 4 22.22 TTN 0 genome.wustl.edu 37 2 179393791 179393791 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 179393791 179393791 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.98983 p.L32995I 0.815 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 84 0 0.00 70 4 5.41 TTN 0 genome.wustl.edu 37 2 179418692 179418692 + Nonsense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 179418692 179418692 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.81442 p.Q27148* 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 43 0 0.00 31 6 16.22 TTN 0 genome.wustl.edu 37 2 179433476 179433476 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 179433476 179433476 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.69679 p.V23227I 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 30 0 0.00 25 7 21.88 TTN 0 genome.wustl.edu 37 2 179468904 179468904 + Silent SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 179468904 179468904 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.46806 p.P15602 0.926 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 77 0 0.00 42 4 8.70 TULP4 0 genome.wustl.edu 37 6 158902309 158902309 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 158902309 158902309 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.1474 p.D492N 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 51 0 0.00 50 13 20.63 TXK 0 genome.wustl.edu 37 4 48114499 48114499 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 48114499 48114499 G T SNP TXK ENST00000264316 human ensembl 74_37 -1 known silent c.205 p.R69 0.756 superfamily_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,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 - no_errors TXK HGNC ENSG00000074966 45 0 0.00 26 2 7.14 UNC80 0 genome.wustl.edu 37 2 210714180 210714180 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 2 210714180 210714180 C A SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.3466 p.H1156N 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 92 0 0.00 51 22 30.14 USH2A 0 genome.wustl.edu 37 1 215931997 215931997 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 215931997 215931997 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.11329 p.P3777T 0.890 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 93 0 0.00 86 22 20.37 USO1 0 genome.wustl.edu 37 4 76655133 76655133 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 76655133 76655133 C T SNP USO1 ENST00000538159 human ensembl 74_37 +1 known missense c.184 p.H62Y 0.503 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 tier1 - - 86 0 0.00 10 32 76.19 USP9X 0 genome.wustl.edu 37 X 41007638 41007638 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 X 41007638 41007638 C T SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.1436 p.A479V 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 tier1 - - 64 0 0.00 26 24 47.06 VMP1 0 genome.wustl.edu 37 17 57917276 57917276 + RNA SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 17 57917276 57917276 G C SNP VMP1 ENST00000588617 human ensembl 74_37 +1 known rna NULL NULL 0.917 - - - no_errors VMP1 HGNC ENSG00000062716 tier1 - - 111 0 0.00 51 34 40.00 VSIG10 0 genome.wustl.edu 37 12 118533405 118533405 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 118533405 118533405 C A SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.294 p.E98D 0.997 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 tier1 - - 76 0 0.00 34 4 10.53 WAC 0 genome.wustl.edu 37 10 28879731 28879731 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 28879731 28879731 G T SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.580 p.A194S 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 tier1 - - 54 0 0.00 65 4 5.80 WDR17 0 genome.wustl.edu 37 4 177037078 177037078 + Silent SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 4 177037078 177037078 C A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known silent c.327 p.I109 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 106 0 0.00 54 11 16.92 WDR88 0 genome.wustl.edu 37 19 33628669 33628671 + In_Frame_Del DEL CTA CTA - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 CTA CTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 33628669 33628671 CTA - DEL WDR88 ENST00000355868 human ensembl 74_37 +1 known in_frame_del c.363_365 p.Y122in_frame_del 0.996:0.980:0.968 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 tier1 60 0 0.00 48 20 29.41 WDR88 0 genome.wustl.edu 37 19 33628674 33628674 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 33628674 33628674 A T SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known missense c.368 p.D123V 0.968 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 tier1 - - 58 0 0.00 43 20 31.75 WNT8B 0 genome.wustl.edu 37 10 102240762 102240762 + Silent SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 102240762 102240762 G T SNP WNT8B ENST00000343737 human ensembl 74_37 +1 known silent c.249 p.R83 0.975 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ENSG00000075290 tier1 - - 63 0 0.00 51 4 7.27 ZCWPW1 0 genome.wustl.edu 37 7 99999532 99999532 + Missense_Mutation SNP T T C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 99999532 99999532 T C SNP ZCWPW1 ENST00000398027 human ensembl 74_37 -1 known missense c.1604 p.N535S 0.002 NULL pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 tier1 - - 53 0 0.00 49 14 22.22 ZHX1 0 genome.wustl.edu 37 8 124268118 124268118 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 8 124268118 124268118 C T SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known silent c.69 p.E23 0.218 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 tier1 - - 66 0 0.00 61 17 21.79 ZMIZ1 0 genome.wustl.edu 37 10 81056113 81056113 + RNA SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 10 81056113 81056113 G A SNP ZMIZ1 ENST00000478357 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZMIZ1 HGNC ENSG00000108175 tier1 - - 116 0 0.00 92 9 8.91 ZMYND12 0 genome.wustl.edu 37 1 42900953 42900953 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 1 42900953 42900953 G T SNP ZMYND12 ENST00000372565 human ensembl 74_37 -1 known missense c.821 p.T274N 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND12 HGNC ENSG00000066185 tier1 - - 79 0 0.00 76 4 5.00 ZNF107 0 genome.wustl.edu 37 7 64167664 64167664 + Missense_Mutation SNP T T A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 7 64167664 64167664 T A SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.982 p.Y328N 0.946 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 tier1 - - 95 0 0.00 66 4 5.71 ZNF268 0 genome.wustl.edu 37 12 133778764 133778764 + Nonsense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 12 133778764 133778764 G A SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known nonsense c.492 p.W164* 0.107 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 ZNF268 HGNC ENSG00000090612 tier1 - - 81 0 0.00 70 4 5.41 ZNF343 0 genome.wustl.edu 37 20 2464928 2464928 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 2464928 2464928 C A SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known missense c.679 p.D227Y 0.025 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 ZNF343 HGNC ENSG00000088876 tier1 - - 89 0 0.00 60 4 6.25 ZNF367 0 genome.wustl.edu 37 9 99157146 99157147 + Frame_Shift_Del DEL CG CG - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 CG CG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 9 99157146 99157147 CG - DEL ZNF367 ENST00000375256 human ensembl 74_37 -1 known frame_shift_del c.650_649 p.R217fs 1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF367 HGNC ENSG00000165244 tier1 164 0 0.00 74 93 55.69 ZNF383 0 genome.wustl.edu 37 19 37733516 37733516 + Silent SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 37733516 37733516 C T SNP ZNF383 ENST00000352998 human ensembl 74_37 +1 known silent c.378 p.H126 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF383 HGNC ENSG00000188283 tier1 - - 87 0 0.00 54 24 30.77 ZNF423 0 genome.wustl.edu 37 16 49671717 49671717 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 16 49671717 49671717 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1346 p.S449F 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 75 0 0.00 34 29 46.03 ZNF536 0 genome.wustl.edu 37 19 31040156 31040156 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 31040156 31040156 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.3630 p.Q1210 0.940 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 82 0 0.00 31 18 36.73 ZNF571 0 genome.wustl.edu 37 19 38074877 38074877 + Nonsense_Mutation SNP G G C TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 38074877 38074877 G C SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known nonsense c.131 p.S44* 0.760 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 tier1 - - 122 0 0.00 75 4 5.06 ZNF71 0 genome.wustl.edu 37 19 57133293 57133293 + Missense_Mutation SNP C C A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 57133293 57133293 C A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.638 p.P213Q 0.975 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 66 0 0.00 57 3 5.00 ZNF831 0 genome.wustl.edu 37 20 57767371 57767371 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 20 57767371 57767371 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.1297 p.G433R 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 rs200797810 - 63 0 0.00 137 22 13.84 ZNF85 0 genome.wustl.edu 37 19 21132093 21132093 + Missense_Mutation SNP A A G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 21132093 21132093 A G SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.773 p.Y258C 0.029 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 ZNF85 HGNC ENSG00000105750 tier1 - - 86 0 0.00 103 9 8.04 ZNF852 0 genome.wustl.edu 37 3 44540815 44540815 + Missense_Mutation SNP T T G TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 3 44540815 44540815 T G SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known missense c.1454 p.H485P 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF852 HGNC ENSG00000178917 tier1 - - 88 0 0.00 54 65 54.62 ZSCAN1 0 genome.wustl.edu 37 19 58549514 58549514 + Nonsense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 19 58549514 58549514 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known nonsense c.310 p.R104* 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 - - 67 0 0.00 24 5 17.24 ZSCAN23 0 genome.wustl.edu 37 6 28402448 28402448 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 207ea57e-655d-4008-81e3-27fa7b2b1ff6 b224c840-9566-4aa5-9f0d-7386909da464 6 28402448 28402448 G T SNP ZSCAN23 ENST00000289788 human ensembl 74_37 -1 known missense c.964 p.H322N 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 55 0 0.00 52 3 5.45