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 ADAM18 0 genome.wustl.edu 37 8 39463837 39463837 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 8 39463837 39463837 C T SNP ADAM18 ENST00000520001 human ensembl 74_37 +1 known missense c.178 p.H60Y 0.334 NULL NULL - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 49 0 0.00 47 15 24.19 ADAMTS13 0 genome.wustl.edu 37 9 136321339 136321339 + Splice_Site SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 9 136321339 136321339 T C SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known splice_site c.3715+2 e26+2 0.971 - - - no_errors ADAMTS13 HGNC ENSG00000160323 33 0 0.00 31 3 8.82 ADAMTS20 0 genome.wustl.edu 37 12 43819395 43819395 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 43819395 43819395 G T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4206 p.N1402K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 40 0 0.00 68 4 5.56 ADAMTS6 0 genome.wustl.edu 37 5 64468685 64468685 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 64468685 64468685 G T SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.3061 p.R1021S 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 14 0 0.00 24 2 7.69 AHNAK2 0 genome.wustl.edu 37 14 105420323 105420323 + Missense_Mutation SNP A A C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 14 105420323 105420323 A C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.1465 p.L489V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 59 0 0.00 51 10 16.39 ALDH4A1 0 genome.wustl.edu 37 1 19215874 19215874 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 19215874 19215874 G T SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known missense c.231 p.D77E 0.493 superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 tier1 - - 28 0 0.00 25 4 13.79 ALOX5 0 genome.wustl.edu 37 10 45878049 45878049 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 10 45878049 45878049 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.269 p.T90M 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 33 0 0.00 49 3 5.77 ANGPT1 0 genome.wustl.edu 37 8 108296965 108296965 + Nonsense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 8 108296965 108296965 G A SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known nonsense c.1150 p.R384* 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 73 0 0.00 89 30 25.00 AOX1 0 genome.wustl.edu 37 2 201473943 201473943 + RNA SNP A A T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 201473943 201473943 A T SNP AOX1 ENST00000465297 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 39 0 0.00 57 25 30.49 APAF1 0 genome.wustl.edu 37 12 99053025 99053025 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 99053025 99053025 G A SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.614 p.R205Q 0.997 pfam_NB-ARC,superfamily_P-loop_NTPase,pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 tier1 - - 46 0 0.00 81 17 17.35 ARHGEF26 0 genome.wustl.edu 37 3 153935682 153935682 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 153935682 153935682 G A SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.1870 p.A624T 0.999 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 - - 49 0 0.00 35 20 36.36 ARVCF 0 genome.wustl.edu 37 22 19974605 19974605 + Silent SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 22 19974605 19974605 T C SNP ARVCF ENST00000344269 human ensembl 74_37 -1 known silent c.12 p.E4 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 - - 25 0 0.00 19 10 34.48 BAGE2 0 genome.wustl.edu 37 21 11038730 11038730 + RNA SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 21 11038730 11038730 G A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 tier1 - - 170 0 0.00 148 18 10.84 BNIP3P1 0 genome.wustl.edu 37 14 28735149 28735150 + RNA INS - - A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 14 28735149 28735150 - A INS BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.126:0.195 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 18 0 0.00 26 12 31.58 BOD1 0 genome.wustl.edu 37 5 173043252 173043252 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 173043252 173043252 C T SNP BOD1 ENST00000311086 human ensembl 74_37 -1 known missense c.188 p.G63D 1.000 NULL NULL - no_errors BOD1 HGNC ENSG00000145919 tier1 - - 24 0 0.00 9 13 59.09 BPIFC 0 genome.wustl.edu 37 22 32815372 32815372 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 22 32815372 32815372 C G SNP BPIFC ENST00000300399 human ensembl 74_37 -1 known missense c.1237 p.E413Q 0.872 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 tier1 - - 62 0 0.00 64 28 30.43 BUB1B 0 genome.wustl.edu 37 15 40510661 40510661 + Missense_Mutation SNP A A T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 15 40510661 40510661 A T SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.2897 p.D966V 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 tier1 - - 62 0 0.00 85 33 27.97 C10orf53 0 genome.wustl.edu 37 10 50902630 50902630 + Silent SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 10 50902630 50902630 C A SNP C10orf53 ENST00000374111 human ensembl 74_37 +1 known silent c.264 p.A88 0.032 NULL NULL - no_errors C10orf53 HGNC ENSG00000178645 34 0 0.00 83 5 5.68 C3AR1 0 genome.wustl.edu 37 12 8212673 8212673 + Nonsense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 8212673 8212673 C A SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known nonsense c.109 p.G37* 1.000 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 32 0 0.00 28 2 6.45 C4orf27 0 genome.wustl.edu 37 4 170669922 170669922 + Missense_Mutation SNP T T A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 4 170669922 170669922 T A SNP C4orf27 ENST00000393381 human ensembl 74_37 -1 known missense c.470 p.N157I 0.977 pfam_DUF2228_C2H2_APLF-like pfam_DUF2228_C2H2_APLF-like - no_errors C4orf27 HGNC ENSG00000056050 tier1 - - 91 0 0.00 77 51 39.84 CACHD1 0 genome.wustl.edu 37 1 65113504 65113504 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 65113504 65113504 G C SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.1177 p.E393Q 1.000 pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 tier1 - - 18 0 0.00 34 8 19.05 CAPS2 0 genome.wustl.edu 37 12 75710093 75710093 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 75710093 75710093 G A SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.647 p.A216V 0.957 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 tier1 - - 68 0 0.00 50 16 24.24 CCDC163P 0 genome.wustl.edu 37 1 45962253 45962253 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 45962253 45962253 C T SNP CCDC163P ENST00000415578 human ensembl 74_37 -1 known missense c.305 p.R102Q 0.000 NULL NULL - no_errors CCDC163P HGNC ENSG00000236624 tier1 - - 22 0 0.00 23 4 14.81 CCDC22 0 genome.wustl.edu 37 X 49098512 49098512 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 X 49098512 49098512 C G SNP CCDC22 ENST00000376227 human ensembl 74_37 +1 known missense c.259 p.Q87E 1.000 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 tier1 - - 16 0 0.00 14 18 56.25 CCDC30 0 genome.wustl.edu 37 1 42948562 42948563 + RNA INS - - A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 42948562 42948563 - A INS CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 29 0 0.00 22 6 21.43 CDAN1 0 genome.wustl.edu 37 15 43023524 43023524 + Missense_Mutation SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 15 43023524 43023524 T C SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.1745 p.Q582R 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 tier1 - - 23 0 0.00 19 5 20.83 CELSR3 0 genome.wustl.edu 37 3 48699388 48699388 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 48699388 48699388 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.680 p.R227K 0.036 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 27 0 0.00 23 2 8.00 CEP350 0 genome.wustl.edu 37 1 180049761 180049761 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 180049761 180049761 G T SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.6089 p.S2030I 0.998 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 37 0 0.00 45 3 6.25 CHEK2 0 genome.wustl.edu 37 22 29092950 29092950 + Missense_Mutation SNP T T A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 22 29092950 29092950 T A SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1163 p.H388L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 tier1 - - 48 0 0.00 68 7 9.33 CNKSR2 0 genome.wustl.edu 37 X 21670529 21670529 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 X 21670529 21670529 G C SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.2995 p.D999H 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 tier1 - - 42 0 0.00 20 27 57.45 COL11A1 0 genome.wustl.edu 37 1 103496701 103496701 + Missense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 103496701 103496701 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.751 p.A251S 0.974 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 21 0 0.00 13 9 40.91 COL4A3 0 genome.wustl.edu 37 2 228118856 228118856 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 228118856 228118856 G A SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.794 p.G265E 0.980 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 77 0 0.00 78 6 6.98 CRYBG3 0 genome.wustl.edu 37 3 97617998 97617999 + In_Frame_Ins INS - - TTT TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 97617998 97617999 - TTT INS CRYBG3 ENST00000182096 human ensembl 74_37 +1 known in_frame_ins c.2018_2019 p.Q673in_frame_insHL 1.000:1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 tier1 44 0 0.00 56 32 36.36 CSE1L 0 genome.wustl.edu 37 20 47710714 47710714 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 20 47710714 47710714 G C SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.2485 p.E829Q 1.000 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 tier1 - - 100 0 0.00 99 63 38.89 CYLD 0 genome.wustl.edu 37 16 50785664 50785664 + Silent SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 16 50785664 50785664 T C SNP CYLD ENST00000311559 human ensembl 74_37 +1 known silent c.654 p.G218 0.856 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 tier1 - - 54 0 0.00 21 24 52.17 DCAF12L1 0 genome.wustl.edu 37 X 125685869 125685869 + Silent SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 X 125685869 125685869 T C SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.723 p.V241 0.120 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 34 0 0.00 23 32 58.18 DDX39B-AS1 0 genome.wustl.edu 37 6 31510159 31510159 + RNA SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 31510159 31510159 G T SNP DDX39B-AS1 ENST00000416684 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors DDX39B-AS1 HGNC ENSG00000234006 tier1 - - 31 0 0.00 51 4 7.27 DNAH8 0 genome.wustl.edu 37 6 38891915 38891915 + Missense_Mutation SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 38891915 38891915 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.10288 p.S3430P 1.000 NULL 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 DNAH8 HGNC ENSG00000124721 tier1 - - 79 0 0.00 84 7 7.69 DOCK5 0 genome.wustl.edu 37 8 25154103 25154103 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 8 25154103 25154103 C G SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.545 p.A182G 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 tier1 - - 30 0 0.00 28 4 12.50 DPP6 0 genome.wustl.edu 37 7 154679398 154679398 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 7 154679398 154679398 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2258 p.S753F 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 24 0 0.00 22 12 35.29 DST 0 genome.wustl.edu 37 6 56481466 56481466 + Missense_Mutation SNP T T A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 56481466 56481466 T A SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.6799 p.I2267F 0.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 tier1 - - 42 0 0.00 37 9 19.57 EFCAB4B 0 genome.wustl.edu 37 12 3788201 3788201 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 3788201 3788201 C T SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.404 p.R135H 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 37 0 0.00 26 2 7.14 EHBP1 0 genome.wustl.edu 37 2 63176060 63176060 + Silent SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 63176060 63176060 C T SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known silent c.2184 p.I728 0.069 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 rs143884885 - 54 0 0.00 39 19 32.76 EMILIN2 0 genome.wustl.edu 37 18 2891551 2891551 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 18 2891551 2891551 C T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.1426 p.R476W 0.235 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 21 0 0.00 18 2 10.00 ENSG00000185710 0 genome.wustl.edu 37 16 21916139 21916139 + RNA SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 16 21916139 21916139 C G SNP ENSG00000185710 ENST00000517529 human ensembl 74_37 -1 known rna NULL NULL 0.236 - - - no_errors RP11-645C24.2 Clone_based_vega_gene ENSG00000185710 tier1 - - 23 0 0.00 30 15 33.33 ENSG00000225411 0 genome.wustl.edu 37 9 68400407 68400407 + RNA SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 9 68400407 68400407 A G SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs199879074 - 15 0 0.00 8 4 33.33 ENSG00000271828 0 genome.wustl.edu 37 5 56224783 56224784 + RNA DEL CT CT - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 56224783 56224784 CT - DEL ENSG00000271828 ENST00000606813 human ensembl 74_37 +1 known rna NULL NULL 0.011:0.009 - - - no_errors CTD-2310F14.1 Clone_based_vega_gene ENSG00000271828 tier1 11 0 0.00 2 2 50.00 ENSG00000272056 0 genome.wustl.edu 37 2 27276520 27276520 + RNA SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 27276520 27276520 T C SNP ENSG00000272056 ENST00000607407 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-503P10.1 Clone_based_vega_gene ENSG00000272056 tier1 - - 13 0 0.00 8 5 38.46 FAIM 0 genome.wustl.edu 37 3 138340279 138340279 + Silent SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 138340279 138340279 T C SNP FAIM ENST00000338446 human ensembl 74_37 +1 known silent c.111 p.D37 0.982 pfam_FAIM pfam_FAIM - no_errors FAIM HGNC ENSG00000158234 tier1 - - 64 0 0.00 60 30 33.33 FAM46B 0 genome.wustl.edu 37 1 27333125 27333125 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 27333125 27333125 G A SNP FAM46B ENST00000289166 human ensembl 74_37 -1 known silent c.588 p.S196 0.741 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC ENSG00000158246 tier1 rs143879440 - 22 0 0.00 10 7 41.18 FKBP5 0 genome.wustl.edu 37 6 35588005 35588005 + Missense_Mutation SNP T T A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 35588005 35588005 T A SNP FKBP5 ENST00000357266 human ensembl 74_37 -1 known missense c.297 p.K99N 0.994 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC ENSG00000096060 tier1 - - 62 0 0.00 56 31 35.63 FLT4 0 genome.wustl.edu 37 5 180038364 180038364 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 180038364 180038364 G T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.3653 p.P1218Q 0.828 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 45 0 0.00 37 4 9.76 FRMD4B 0 genome.wustl.edu 37 3 69230096 69230096 + Silent SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 69230096 69230096 C G SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known silent c.2805 p.L935 1.000 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 10 0 0.00 7 5 41.67 GAS7 0 genome.wustl.edu 37 17 9821406 9821406 + Missense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 17 9821406 9821406 C A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.1229 p.R410L 1.000 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 tier1 - - 27 0 0.00 16 10 38.46 GDPGP1 0 genome.wustl.edu 37 15 90784897 90784897 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 15 90784897 90784897 C T SNP GDPGP1 ENST00000329600 human ensembl 74_37 +1 known missense c.757 p.P253S 0.986 NULL NULL - no_errors GDPGP1 HGNC ENSG00000183208 tier1 - - 21 0 0.00 30 35 53.85 GHR 0 genome.wustl.edu 37 5 42719156 42719156 + Missense_Mutation SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 42719156 42719156 T C SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.1547 p.M516T 0.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 tier1 - - 63 0 0.00 89 21 19.09 GIN1 0 genome.wustl.edu 37 5 102444392 102444392 + Missense_Mutation SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 102444392 102444392 T C SNP GIN1 ENST00000399004 human ensembl 74_37 -1 known missense c.20 p.N7S 1.000 NULL pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 tier1 - - 83 0 0.00 46 31 40.26 GJD4 0 genome.wustl.edu 37 10 35897253 35897253 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 10 35897253 35897253 G T SNP GJD4 ENST00000321660 human ensembl 74_37 +1 known missense c.812 p.G271V 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD4 HGNC ENSG00000177291 tier1 - - 68 0 0.00 104 6 5.45 GLIS3 0 genome.wustl.edu 37 9 3932889 3932890 + RNA INS - - A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 9 3932889 3932890 - A INS GLIS3 ENST00000464391 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors GLIS3 HGNC ENSG00000107249 tier1 83 0 0.00 55 14 20.29 GOLGA5 0 genome.wustl.edu 37 14 93299494 93299494 + Missense_Mutation SNP A A T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 14 93299494 93299494 A T SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known missense c.1747 p.S583C 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 tier1 - - 57 0 0.00 39 42 51.85 GPR161 0 genome.wustl.edu 37 1 168066315 168066315 + Missense_Mutation SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 168066315 168066315 A G SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.590 p.M197T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 tier1 - - 23 0 0.00 26 5 16.13 GRIN2D 0 genome.wustl.edu 37 19 48922912 48922912 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 48922912 48922912 G A SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known silent c.1932 p.S644 0.045 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 tier1 - - 44 0 0.00 48 10 17.24 HELB 0 genome.wustl.edu 37 12 66703557 66703557 + Silent SNP T T G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 66703557 66703557 T G SNP HELB ENST00000247815 human ensembl 74_37 +1 known silent c.849 p.L283 0.013 NULL superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 tier1 - - 52 0 0.00 54 27 33.33 HLA-B 0 genome.wustl.edu 37 6 31324886 31324887 + Frame_Shift_Ins INS - - C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 31324886 31324887 - C INS HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_ins c.50_49 p.L17fs 0.408:0.332 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 19 0 0.00 18 6 25.00 HMGB4 0 genome.wustl.edu 37 1 34329981 34329981 + Silent SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 34329981 34329981 G C SNP HMGB4 ENST00000519684 human ensembl 74_37 +1 known silent c.189 p.L63 0.985 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB4 HGNC ENSG00000176256 tier1 - - 46 0 0.00 24 14 36.84 ICA1 0 genome.wustl.edu 37 7 8260925 8260925 + Silent SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 7 8260925 8260925 G C SNP ICA1 ENST00000422063 human ensembl 74_37 -1 known silent c.360 p.L120 0.987 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 tier1 - - 63 0 0.00 26 21 44.68 IFI16 0 genome.wustl.edu 37 1 159024625 159024625 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 159024625 159024625 G T SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.2292 p.R764S 0.005 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 - - 57 0 0.00 56 7 11.11 IGSF9 0 genome.wustl.edu 37 1 159899523 159899523 + Missense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 159899523 159899523 C A SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.2231 p.C744F 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 tier1 - - 26 0 0.00 29 12 29.27 IQCG 0 genome.wustl.edu 37 3 197665569 197665569 + Frame_Shift_Del DEL A A - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 197665569 197665569 A - DEL IQCG ENST00000265239 human ensembl 74_37 -1 known frame_shift_del c.365 p.L122fs 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 tier1 72 0 0.00 98 26 20.97 ITIH5 0 genome.wustl.edu 37 10 7683899 7683899 + Missense_Mutation SNP T T G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 10 7683899 7683899 T G SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.290 p.N97T 1.000 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 39 0 0.00 33 6 15.38 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42137203 42137203 + Silent SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 15 42137203 42137203 T C SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.1867 p.L623 0.089 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 - - 20 0 0.00 15 8 34.78 KCNN3 0 genome.wustl.edu 37 1 154794605 154794605 + Missense_Mutation SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 154794605 154794605 A G SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.989 p.L330P 0.999 pfam_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 tier1 - - 65 0 0.00 48 4 7.69 KCTD19 0 genome.wustl.edu 37 16 67325252 67325252 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 16 67325252 67325252 G T SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known missense c.2525 p.A842D 0.996 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 tier1 - - 35 0 0.00 39 4 9.30 KIAA1430 0 genome.wustl.edu 37 4 186084049 186084049 + Missense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 4 186084049 186084049 C A SNP KIAA1430 ENST00000458385 human ensembl 74_37 -1 novel missense c.1502 p.G501V 0.753 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 tier1 - - 44 0 0.00 25 30 54.55 KIAA1671 0 genome.wustl.edu 37 22 25566894 25566894 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 22 25566894 25566894 G C SNP KIAA1671 ENST00000358431 human ensembl 74_37 +1 known missense c.4638 p.Q1546H 0.759 NULL NULL - no_errors KIAA1671 HGNC ENSG00000197077 tier1 - - 21 0 0.00 24 6 20.00 KIAA1683 0 genome.wustl.edu 37 19 18368268 18368268 + Nonsense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 18368268 18368268 C A SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known nonsense c.3826 p.E1276* 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 26 0 0.00 38 2 5.00 LOC101928664 0 genome.wustl.edu 37 19 12494426 12494426 + Missense_Mutation SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 12494426 12494426 T C SNP LOC101928664 ENST00000435033 human ensembl 74_37 -1 known missense c.79 p.N27D 0.754 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors CTD-3105H18.14 Clone_based_vega_gene ENSG00000268744 tier1 - - 72 0 0.00 82 29 26.13 LOC202181 0 genome.wustl.edu 37 5 177099140 177099140 + RNA SNP T T A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 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 16 0 0.00 8 3 27.27 LYST 0 genome.wustl.edu 37 1 235860435 235860435 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 235860435 235860435 G C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.10512 p.I3504M 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 63 0 0.00 58 33 36.26 MAP3K7 0 genome.wustl.edu 37 6 91225524 91225525 + RNA INS - - A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 91225524 91225525 - A INS MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.087 - - - no_errors MAP3K7 HGNC ENSG00000135341 tier1 22 0 0.00 10 3 23.08 MATN2 0 genome.wustl.edu 37 8 99019414 99019414 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 8 99019414 99019414 C T SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.1409 p.S470L 0.975 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 tier1 - - 18 0 0.00 39 10 20.41 MIPEP 0 genome.wustl.edu 37 13 24383997 24383997 + Nonsense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 13 24383997 24383997 G A SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known nonsense c.1720 p.Q574* 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 tier1 - - 51 0 0.00 55 4 6.78 MIR181B1 0 genome.wustl.edu 37 1 198828105 198828105 + RNA SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 198828105 198828105 G T SNP MIR181B1 ENST00000385240 human ensembl 74_37 -1 known rna NULL NULL 0.031 - - - no_errors MIR181B1 HGNC ENSG00000207975 58 0 0.00 69 4 5.48 MLLT3 0 genome.wustl.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 9 20414340 20414340 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.504 p.S168 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 tier1 - - 63 0 0.00 90 7 7.22 MOGAT3 0 genome.wustl.edu 37 7 100843774 100843774 + Silent SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 7 100843774 100843774 G C SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known silent c.132 p.V44 0.006 NULL pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 tier1 - - 16 0 0.00 5 10 66.67 MRC2 0 genome.wustl.edu 37 17 60766262 60766262 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 17 60766262 60766262 G A SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.3275 p.R1092H 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 48 0 0.00 50 3 5.66 MRPL9 0 genome.wustl.edu 37 1 151734490 151734490 + RNA SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 151734490 151734490 C T SNP MRPL9 ENST00000478926 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MRPL9 HGNC ENSG00000143436 tier1 - - 77 0 0.00 46 31 40.26 MRPS26 0 genome.wustl.edu 37 20 3028466 3028466 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 20 3028466 3028466 C T SNP MRPS26 ENST00000380325 human ensembl 74_37 +1 known missense c.569 p.A190V 0.998 NULL NULL - no_errors MRPS26 HGNC ENSG00000125901 tier1 - - 33 0 0.00 31 8 20.51 MST1L 0 genome.wustl.edu 37 1 17083485 17083485 + RNA SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 17083485 17083485 A G SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MST1L HGNC ENSG00000186715 10 0 0.00 19 3 13.64 MT-RNR1 0 genome.wustl.edu 37 MT 1202 1202 + RNA SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 MT 1202 1202 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 12 0 0.00 19 12 38.71 MUC19 0 genome.wustl.edu 37 12 40919112 40919112 + RNA SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 40919112 40919112 G T SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 61 0 0.00 47 24 33.80 MUC19 0 genome.wustl.edu 37 12 40919113 40919113 + RNA SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 40919113 40919113 G T SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 60 0 0.00 48 24 33.33 MUC4 0 genome.wustl.edu 37 3 195508450 195508450 + Frame_Shift_Del DEL G G - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 195508450 195508450 G 0 DEL MUC4 ENST00000463781 human ensembl 74_37 -1 known frame_shift_del c.10001 p.P3334fs 0.171 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 65 0 0.00 123 9 6.82 MUC4 0 genome.wustl.edu 37 3 195508454 195508455 + Frame_Shift_Ins INS - - C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 195508454 195508455 0 C INS MUC4 ENST00000463781 human ensembl 74_37 -1 known frame_shift_ins c.9997_9996 p.S3332fs 0.512:0.562 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 60 0 0.00 119 7 5.56 MUC5B 0 genome.wustl.edu 37 11 1253282 1253282 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 11 1253282 1253282 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.1744 p.V582L 0.540 NULL 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 - - 39 0 0.00 12 14 53.85 MYO6 0 genome.wustl.edu 37 6 76558106 76558106 + Missense_Mutation SNP T T G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 76558106 76558106 T G SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.936 p.D312E 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 77 0 0.00 94 17 15.32 MYO7B 0 genome.wustl.edu 37 2 128341785 128341785 + Missense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 128341785 128341785 C A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1432 p.R478S 0.204 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 64 0 0.00 46 15 24.59 MYT1L 0 genome.wustl.edu 37 2 1893241 1893241 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 1893241 1893241 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.2292 p.D764 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 36 0 0.00 18 6 25.00 NAA25 0 genome.wustl.edu 37 12 112478314 112478314 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 112478314 112478314 G C SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.2509 p.L837V 0.071 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 tier1 - - 92 0 0.00 71 23 24.47 NAV3 0 genome.wustl.edu 37 12 78513439 78513439 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 78513439 78513439 C G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.3463 p.H1155D 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 40 0 0.00 42 10 19.23 NBN 0 genome.wustl.edu 37 8 90990460 90990460 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 8 90990460 90990460 G T SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.572 p.P191Q 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 tier1 - - 54 0 0.00 51 18 26.09 NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 120612003 120612004 GG 0 DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 18 0 0.00 37 8 17.78 NPHP3 0 genome.wustl.edu 37 3 132441186 132441186 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 132441186 132441186 G C SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.14 p.S5W 1.000 NULL pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 tier1 - - 9 0 0.00 9 7 43.75 NRXN3 0 genome.wustl.edu 37 14 80319942 80319942 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 14 80319942 80319942 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.4130 p.T1377I 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 56 0 0.00 37 45 54.88 OPA1 0 genome.wustl.edu 37 3 193380719 193380719 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 193380719 193380719 G C SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.2629 p.E877Q 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 tier1 - - 88 0 0.00 78 39 33.33 OR5D13 0 genome.wustl.edu 37 11 55540951 55540951 + Missense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 11 55540951 55540951 C A SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.38 p.T13N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 tier1 - - 28 0 0.00 23 16 41.03 OTOF 0 genome.wustl.edu 37 2 26717916 26717916 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 26717916 26717916 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.791 p.R264Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 39 0 0.00 39 3 7.14 PARPBP 0 genome.wustl.edu 37 12 102558365 102558365 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 102558365 102558365 G A SNP PARPBP ENST00000358383 human ensembl 74_37 +1 known silent c.645 p.E215 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors PARPBP HGNC ENSG00000185480 tier1 - - 80 0 0.00 77 33 30.00 PCDHGB6 0 genome.wustl.edu 37 5 140789345 140789345 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 140789345 140789345 C T SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.1576 p.R526C 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 29 0 0.00 32 2 5.88 PDK3 0 genome.wustl.edu 37 X 24544323 24544331 + In_Frame_Del DEL CCAGACAAA CCAGACAAA - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 CCAGACAAA CCAGACAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 X 24544323 24544331 CCAGACAAA 0 DEL PDK3 ENST00000441463 human ensembl 74_37 +1 known in_frame_del c.682_690 p.DKP229in_frame_del 1.000:1.000:0.999:0.997:0.998:1.000:1.000:1.000:0.997 superfamily_HATPase_ATP-bd pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 11 0 0.00 8 4 33.33 PHC2 0 genome.wustl.edu 37 1 33789826 33789826 + RNA SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 33789826 33789826 G T SNP PHC2 ENST00000485928 human ensembl 74_37 -1 known rna NULL NULL 0.989 - - - no_errors PHC2 HGNC ENSG00000134686 tier1 - - 32 0 0.00 19 4 17.39 PIGC 0 genome.wustl.edu 37 1 172362646 172362646 + RNA SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 172362646 172362646 C A SNP PIGC ENST00000484368 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PIGC HGNC ENSG00000135845 tier1 - - 27 0 0.00 17 12 41.38 PIGN 0 genome.wustl.edu 37 18 59768391 59768391 + Missense_Mutation SNP T T A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 18 59768391 59768391 T A SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.1994 p.Y665F 0.949 pfam_GPI_EtnP_transferase_1_C pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 tier1 - - 43 0 0.00 34 21 38.18 PLA2G5 0 genome.wustl.edu 37 1 20411357 20411357 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 20411357 20411357 G A SNP PLA2G5 ENST00000375108 human ensembl 74_37 +1 known missense c.34 p.A12T 1.000 NULL pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G5 HGNC ENSG00000127472 tier1 - - 74 0 0.00 42 16 27.59 PLEKHA2 0 genome.wustl.edu 37 8 38827322 38827322 + RNA SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 8 38827322 38827322 A G SNP PLEKHA2 ENST00000388745 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLEKHA2 HGNC ENSG00000169499 tier1 - - 35 0 0.00 38 4 9.52 PMPCB 0 genome.wustl.edu 37 7 102939017 102939017 + Silent SNP A A T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 7 102939017 102939017 A T SNP PMPCB ENST00000249269 human ensembl 74_37 +1 known silent c.102 p.S34 0.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCB HGNC ENSG00000105819 tier1 - - 57 0 0.00 49 23 31.94 PPAP2B 0 genome.wustl.edu 37 1 56962230 56962230 + Missense_Mutation SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 56962230 56962230 A G SNP PPAP2B ENST00000371250 human ensembl 74_37 -1 known missense c.929 p.M310T 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 tier1 - - 44 0 0.00 39 18 31.58 PTEN 0 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 TACT TACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 10 89720799 89720802 TACT - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.950_953 p.T319fs 1.000:1.000:1.000:1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 79 0 0.00 47 22 31.88 PTK7 0 genome.wustl.edu 37 6 43127622 43127622 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 43127622 43127622 G T SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known missense c.2970 p.W990C 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_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 35 0 0.00 33 2 5.71 RABL6 0 genome.wustl.edu 37 9 139726379 139726379 + RNA SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 9 139726379 139726379 G A SNP RABL6 ENST00000466096 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RABL6 HGNC ENSG00000196642 tier1 - - 32 0 0.00 13 16 55.17 RAPGEF5 0 genome.wustl.edu 37 7 22355070 22355070 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 7 22355070 22355070 G T SNP RAPGEF5 ENST00000405243 human ensembl 74_37 -1 putative missense c.308 p.A103E 1.000 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors RAPGEF5 HGNC ENSG00000136237 tier1 - - 45 0 0.00 55 4 6.78 RARS2 0 genome.wustl.edu 37 6 88226573 88226573 + Missense_Mutation SNP A A C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 88226573 88226573 A C SNP RARS2 ENST00000369536 human ensembl 74_37 -1 known missense c.1537 p.S513A 0.997 pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 tier1 - - 44 0 0.00 50 14 21.88 RASIP1 0 genome.wustl.edu 37 19 49230042 49230042 + Silent SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 49230042 49230042 C T SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known silent c.2127 p.K709 1.000 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 10 0 0.00 9 5 35.71 RB1 0 genome.wustl.edu 37 13 48947603 48947603 + Nonsense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 13 48947603 48947603 C G SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1190 p.S397* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 - - 36 0 0.00 30 18 37.50 RDH13 0 genome.wustl.edu 37 19 55570631 55570631 + Silent SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 55570631 55570631 G T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known silent c.78 p.T26 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 31 0 0.00 38 4 9.52 RIMBP2 0 genome.wustl.edu 37 12 130921701 130921701 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 130921701 130921701 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.1741 p.V581I 0.959 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 rs139344487 - 21 0 0.00 27 8 22.86 RIMS2 0 genome.wustl.edu 37 8 104898082 104898082 + Nonsense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 8 104898082 104898082 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known nonsense c.1255 p.Q419* 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 15 0 0.00 22 2 8.33 RLTPR 0 genome.wustl.edu 37 16 67690174 67690174 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 16 67690174 67690174 C G SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.3786 p.I1262M 0.943 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 tier1 - - 31 0 0.00 23 11 32.35 RNF111 0 genome.wustl.edu 37 15 59359099 59359099 + Missense_Mutation SNP T T G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 15 59359099 59359099 T G SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.1503 p.H501Q 0.032 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 33 0 0.00 21 10 31.25 ROBO1 0 genome.wustl.edu 37 3 78680436 78680436 + Frame_Shift_Del DEL T T - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 78680436 78680436 T - DEL ROBO1 ENST00000464233 human ensembl 74_37 -1 known frame_shift_del c.3501 p.A1169fs 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 59 0 0.00 30 2 6.25 ROPN1L 0 genome.wustl.edu 37 5 10448476 10448476 + Missense_Mutation SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 10448476 10448476 T C SNP ROPN1L ENST00000274134 human ensembl 74_37 +1 known missense c.236 p.L79P 0.996 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1L HGNC ENSG00000145491 tier1 - - 39 0 0.00 46 14 23.33 RSPH6A 0 genome.wustl.edu 37 19 46299149 46299149 + Missense_Mutation SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 46299149 46299149 T C SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.2132 p.E711G 1.000 NULL pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 tier1 - - 27 0 0.00 50 5 9.09 SAMD3 0 genome.wustl.edu 37 6 130496985 130496985 + Splice_Site SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 130496985 130496985 C G SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known splice_site c.822+1 e6+1 1.000 - - - no_errors SAMD3 HGNC ENSG00000164483 tier1 - - 51 0 0.00 33 21 38.89 SCAMP4 0 genome.wustl.edu 37 19 1924143 1924143 + Nonsense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 1924143 1924143 C T SNP SCAMP4 ENST00000316097 human ensembl 74_37 +1 known nonsense c.550 p.Q184* 1.000 NULL pfam_SCAMP - no_errors SCAMP4 HGNC ENSG00000227500 tier1 - - 44 0 0.00 70 5 6.67 SCARNA2 0 genome.wustl.edu 37 1 109643003 109643003 + RNA SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 109643003 109643003 G C SNP SCARNA2 ENST00000458748 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SCARNA2 HGNC ENSG00000270066 tier1 - - 24 0 0.00 16 7 30.43 SCN8A 0 genome.wustl.edu 37 12 52200368 52200368 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 52200368 52200368 C G SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.5098 p.Q1700E 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 47 0 0.00 39 12 23.53 SCYL1 0 genome.wustl.edu 37 11 65300209 65300209 + Missense_Mutation SNP A A T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 11 65300209 65300209 A T SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.1163 p.Q388L 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 tier1 - - 35 0 0.00 39 7 15.22 SOX7 0 genome.wustl.edu 37 8 10584082 10584082 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 8 10584082 10584082 G A SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.489 p.N163 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 - - 35 0 0.00 21 10 32.26 SPRY4 0 genome.wustl.edu 37 5 141693968 141693968 + Missense_Mutation SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 5 141693968 141693968 A G SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known missense c.775 p.S259P 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 tier1 - - 21 0 0.00 14 19 57.58 SPTLC3 0 genome.wustl.edu 37 20 13029863 13029863 + RNA SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 20 13029863 13029863 C T SNP SPTLC3 ENST00000476791 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPTLC3 HGNC ENSG00000172296 tier1 - - 38 0 0.00 37 6 13.95 SUV420H2 0 genome.wustl.edu 37 19 55853280 55853280 + RNA SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 55853280 55853280 G C SNP SUV420H2 ENST00000402499 human ensembl 74_37 +1 known rna NULL NULL 0.228 - - - no_errors SUV420H2 HGNC ENSG00000133247 tier1 - - 39 0 0.00 51 10 16.39 TBC1D22A 0 genome.wustl.edu 37 22 47290699 47290699 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 22 47290699 47290699 G T SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known missense c.857 p.R286L 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 45 0 0.00 30 2 6.25 TCHH 0 genome.wustl.edu 37 1 152084666 152084666 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 152084666 152084666 G C SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.1027 p.Q343E 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 46 0 0.00 58 7 10.77 TFAP2B 0 genome.wustl.edu 37 6 50803934 50803934 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 50803934 50803934 G C SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.789 p.Q263H 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 tier1 - - 25 0 0.00 13 13 50.00 TIMM17A 0 genome.wustl.edu 37 1 201926928 201926929 + RNA INS - - T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 201926928 201926929 - T INS TIMM17A ENST00000484647 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TIMM17A HGNC ENSG00000134375 tier1 8 0 0.00 5 6 54.55 TLL1 0 genome.wustl.edu 37 4 166981293 166981293 + Missense_Mutation SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 4 166981293 166981293 T C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1960 p.Y654H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 57 0 0.00 36 26 41.94 TMEM200A 0 genome.wustl.edu 37 6 130763018 130763018 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 130763018 130763018 G T SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.1451 p.R484M 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 tier1 - - 40 0 0.00 35 8 18.60 TMEM217 0 genome.wustl.edu 37 6 37180243 37180243 + RNA SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 6 37180243 37180243 A G SNP TMEM217 ENST00000497775 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM217 HGNC ENSG00000172738 tier1 - - 14 0 0.00 18 5 21.74 TMEM221 0 genome.wustl.edu 37 19 17547462 17547462 + Silent SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 17547462 17547462 C A SNP TMEM221 ENST00000341130 human ensembl 74_37 -1 known silent c.681 p.G227 0.184 NULL NULL - no_errors TMEM221 HGNC ENSG00000188051 tier1 - - 75 0 0.00 100 61 37.65 TP53 0 genome.wustl.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 17 7578526 7578526 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.404 p.C135Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 12 0 0.00 7 5 41.67 TPRXL 0 genome.wustl.edu 37 3 14106354 14106354 + Silent SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 14106354 14106354 C T SNP TPRXL ENST00000326972 human ensembl 74_37 +1 known silent c.678 p.S226 0.580 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 - - 34 0 0.00 19 9 32.14 TPRXL 0 genome.wustl.edu 37 3 14106367 14106367 + Missense_Mutation SNP T T A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 3 14106367 14106367 T A SNP TPRXL ENST00000326972 human ensembl 74_37 +1 known missense c.691 p.C231S 0.007 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 - - 35 0 0.00 29 4 12.12 TRIM13 0 genome.wustl.edu 37 13 50586798 50586798 + Missense_Mutation SNP A A T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 13 50586798 50586798 A T SNP TRIM13 ENST00000298772 human ensembl 74_37 +1 known missense c.731 p.D244V 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM13 HGNC ENSG00000204977 28 0 0.00 23 3 11.54 TRIM49 0 genome.wustl.edu 37 11 89537421 89537423 + In_Frame_Del DEL TCT TCT - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 11 89537421 89537423 TCT - DEL TRIM49 ENST00000329758 human ensembl 74_37 -1 known in_frame_del c.217_215 p.K72in_frame_del 0.000:0.000:0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 76 0 0.00 76 27 26.21 TSPAN9 0 genome.wustl.edu 37 12 3387724 3387724 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 12 3387724 3387724 G A SNP TSPAN9 ENST00000011898 human ensembl 74_37 +1 known silent c.201 p.T67 0.770 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN9 HGNC ENSG00000011105 25 0 0.00 30 3 9.09 TSPYL2 0 genome.wustl.edu 37 X 53114916 53114916 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 X 53114916 53114916 C G SNP TSPYL2 ENST00000375442 human ensembl 74_37 +1 known missense c.1342 p.H448D 0.490 NULL pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 tier1 - - 16 0 0.00 11 18 62.07 TUBA3C 0 genome.wustl.edu 37 13 19751582 19751582 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 13 19751582 19751582 C T SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.541 p.V181M 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 54 0 0.00 31 8 20.51 TYW5 0 genome.wustl.edu 37 2 200820127 200820127 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 200820127 200820127 G T SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known missense c.67 p.L23I 0.725 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 tier1 - - 44 0 0.00 80 5 5.88 UNC13C 0 genome.wustl.edu 37 15 54825247 54825247 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 15 54825247 54825247 G T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.5679 p.M1893I 1.000 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 86 0 0.00 92 28 23.33 UNC80 0 genome.wustl.edu 37 2 210636730 210636732 + RNA DEL GGC GGC - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 210636730 210636732 GGC - DEL UNC80 ENST00000478701 human ensembl 74_37 +1 known rna NULL NULL 0.872:0.440:0.097 - - - no_errors UNC80 HGNC ENSG00000144406 tier1 13 0 0.00 14 2 12.50 URGCP 0 genome.wustl.edu 37 7 43918191 43918191 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 7 43918191 43918191 C T SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.871 p.D291N 1.000 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 tier1 - - 29 0 0.00 28 10 26.32 USP27X-AS1 0 genome.wustl.edu 37 X 49643121 49643121 + RNA SNP A A G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 X 49643121 49643121 A G SNP USP27X-AS1 ENST00000437322 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors USP27X-AS1 HGNC ENSG00000234390 tier1 - - 32 0 0.00 18 32 64.00 USP40 0 genome.wustl.edu 37 2 234405457 234405457 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 2 234405457 234405457 G A SNP USP40 ENST00000450966 human ensembl 74_37 -1 known silent c.2770 p.L924 0.048 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 tier1 - - 46 0 0.00 23 10 30.30 USP6NL 0 genome.wustl.edu 37 10 11505195 11505195 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 10 11505195 11505195 G A SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.1801 p.R601W 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 58 0 0.00 74 4 5.13 VSTM2A 0 genome.wustl.edu 37 7 54617761 54617761 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 7 54617761 54617761 G A SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known missense c.529 p.A177T 0.004 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 tier1 rs202226834 - 29 0 0.00 29 14 32.56 WASH3P 0 genome.wustl.edu 37 15 102506815 102506816 + RNA DEL CC CC - TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 15 102506815 102506816 CC 0 DEL WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 8 0 0.00 7 6 46.15 YES1 0 genome.wustl.edu 37 18 746023 746023 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 18 746023 746023 C G SNP YES1 ENST00000314574 human ensembl 74_37 -1 known missense c.499 p.D167H 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 tier1 - - 49 0 0.00 35 32 47.76 ZC3H11A 0 genome.wustl.edu 37 1 203765608 203765608 + RNA SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 1 203765608 203765608 C T SNP ZC3H11A ENST00000466470 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors ZC3H11A HGNC ENSG00000058673 tier1 - - 67 0 0.00 44 27 38.03 ZNF423 0 genome.wustl.edu 37 16 49856581 49856581 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 16 49856581 49856581 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.16 p.V6I 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 21 0 0.00 12 18 60.00 ZNF439 0 genome.wustl.edu 37 19 11979010 11979010 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 11979010 11979010 C T SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known missense c.1126 p.H376Y 0.990 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 ZNF439 HGNC ENSG00000171291 tier1 - - 68 0 0.00 77 33 29.73 ZNF518A 0 genome.wustl.edu 37 10 97916723 97916723 + RNA SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 10 97916723 97916723 C G SNP ZNF518A ENST00000478086 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 - - 31 0 0.00 22 6 21.43 ZNF521 0 genome.wustl.edu 37 18 22804854 22804854 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 18 22804854 22804854 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3028 p.H1010N 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 24 0 0.00 22 8 26.67 ZNF540 0 genome.wustl.edu 37 19 38103432 38103432 + Missense_Mutation SNP G G C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 38103432 38103432 G C SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known missense c.1251 p.E417D 0.888 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 ZNF540 HGNC ENSG00000171817 tier1 - - 48 0 0.00 33 32 49.23 ZNF700 0 genome.wustl.edu 37 19 12060792 12060792 + Missense_Mutation SNP G G T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 12060792 12060792 G T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1953 p.K651N 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 tier1 - - 51 0 0.00 90 5 5.26 ZNF705E 0 genome.wustl.edu 37 11 71526966 71526966 + RNA SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 11 71526966 71526966 C T SNP ZNF705E ENST00000525199 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF705E HGNC ENSG00000214534 tier1 - - 95 0 0.00 71 33 31.73 ZNF729 0 genome.wustl.edu 37 19 22496884 22496884 + Missense_Mutation SNP C C A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 22496884 22496884 C A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.665 p.T222N 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 tier1 - - 66 0 0.00 68 32 32.00 ZNF793 0 genome.wustl.edu 37 19 38028524 38028524 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57e88cb7-3eac-489b-9bbc-c7caf1f053d1 e61500b2-f617-4c8c-bbf4-0dba18979ba0 19 38028524 38028524 G A SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.964 p.E322K 0.790 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 ZNF793 HGNC ENSG00000188227 tier1 - - 78 0 0.00 68 36 34.29