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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA10 0 genome.wustl.edu 37 17 67190077 67190077 + Missense_Mutation SNP T T C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 17 67190077 67190077 T C SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known missense c.1399 p.I467V 0.048 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 86 0 0.00 51 19 27.14 - - - ANKRD30A 0 genome.wustl.edu 37 10 37419187 37419187 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 10 37419187 37419187 G A SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known missense c.223 p.D75N 0.300 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 89 0 0.00 28 15 34.88 - - - AOC3 0 genome.wustl.edu 37 17 41004614 41004614 + Silent SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 17 41004614 41004614 G A SNP AOC3 ENST00000308423 human ensembl 69_37n +1 known silent c.1254 p.E418 0.773 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 47 0 0.00 23 12 34.29 - - - CACNA1B 0 genome.wustl.edu 37 9 140943768 140943768 + Splice_Site SNP G G C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 9 140943768 140943768 G C SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known splice_site c.3713+1 e24+1 1.000 - - - no_errors CACNA1B HGNC ENSG00000148408 135 0 0.00 23 28 54.90 - - - CCDC132 0 genome.wustl.edu 37 7 92926136 92926136 + Missense_Mutation SNP A A G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 7 92926136 92926136 A G SNP CCDC132 ENST00000305866 human ensembl 69_37n +1 known missense c.1250 p.D417G 1.000 NULL pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 103 0 0.00 33 12 26.67 - - - CCR1 0 genome.wustl.edu 37 3 46245442 46245442 + Silent SNP G G T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 3 46245442 46245442 G T SNP CCR1 ENST00000296140 human ensembl 69_37n -1 known silent c.363 p.I121 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_P2_purnocptor pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 61 0 0.00 20 18 47.37 - - - CDH15 0 genome.wustl.edu 37 16 89256775 89256775 + Missense_Mutation SNP A A C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 16 89256775 89256775 A C SNP CDH15 ENST00000289746 human ensembl 69_37n +1 known missense c.1103 p.D368A 0.994 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 21 0 0.00 8 9 52.94 - - - CDH23 0 genome.wustl.edu 37 10 73494028 73494028 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 10 73494028 73494028 G A SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known missense c.4145 p.R1382H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 49 0 0.00 14 16 53.33 - - - CES5A 0 genome.wustl.edu 37 16 55909072 55909072 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 16 55909072 55909072 G A SNP CES5A ENST00000290567 human ensembl 69_37n -1 known missense c.62 p.A21V 0.451 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 72 0 0.00 39 11 22.00 - - - CLCA1 0 genome.wustl.edu 37 1 86959277 86959277 + Missense_Mutation SNP G G T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 1 86959277 86959277 G T SNP CLCA1 ENST00000234701 human ensembl 69_37n +1 known missense c.1675 p.A559S 1.000 pfam_DUF1973,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 52 0 0.00 36 12 25.00 - - - DENND5B 0 genome.wustl.edu 37 12 31576559 31576559 + Missense_Mutation SNP C C G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 12 31576559 31576559 C G SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known missense c.2547 p.E849D 1.000 pfam_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 145 0 0.00 59 21 26.25 - - - DGKD 0 genome.wustl.edu 37 2 234378033 234378033 + Missense_Mutation SNP A A T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 2 234378033 234378033 A T SNP DGKD ENST00000264057 human ensembl 69_37n +1 known missense c.3572 p.K1191M 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 39 0 0.00 19 11 36.67 - - - DMXL2 0 genome.wustl.edu 37 15 51773279 51773279 + Missense_Mutation SNP T T C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 15 51773279 51773279 T C SNP DMXL2 ENST00000560891 human ensembl 69_37n -1 novel missense c.398 p.N133S 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DMXL2 HGNC ENSG00000104093 69 0 0.00 25 37 59.68 - - - DYNC2H1 0 genome.wustl.edu 37 11 103114423 103114423 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 11 103114423 103114423 G A SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known missense c.9842 p.S3281N 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 113 0 0.00 50 13 20.63 - - - FAM22B 0 genome.wustl.edu 37 10 81471479 81471479 + Silent SNP C C A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 10 81471479 81471479 C A SNP FAM22B ENST00000429828 human ensembl 69_37n +1 known silent c.1875 p.P625 0.022 NULL NULL - no_errors FAM22B HGNC ENSG00000188199 49 0 0.00 50 6 10.71 - - - FAM75A1 0 genome.wustl.edu 37 9 39361134 39361134 + Missense_Mutation SNP G G T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 9 39361134 39361134 G T SNP FAM75A1 ENST00000377647 human ensembl 69_37n +1 known missense c.3372 p.R1124S 0.000 NULL NULL - no_errors FAM75A1 HGNC ENSG00000204849 27 0 0.00 6 6 50.00 - - - FYB 0 genome.wustl.edu 37 5 39127855 39127855 + Missense_Mutation SNP T T A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 5 39127855 39127855 T A SNP FYB ENST00000540520 human ensembl 69_37n -1 known missense c.1925 p.D642V 0.935 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 136 0 0.00 69 28 28.87 - - - GBF1 0 genome.wustl.edu 37 10 104130498 104130498 + Missense_Mutation SNP G G C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 10 104130498 104130498 G C SNP GBF1 ENST00000369983 human ensembl 69_37n +1 known missense c.3538 p.D1180H 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 93 0 0.00 42 5 10.64 - - - HCFC1 0 genome.wustl.edu 37 X 153224852 153224852 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a X 153224852 153224852 G A SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.1535 p.A512V 0.997 smart_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 65 0 0.00 36 5 11.90 - - - IL37 0 genome.wustl.edu 37 2 113676172 113676172 + Missense_Mutation SNP A A G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 2 113676172 113676172 A G SNP IL37 ENST00000263326 human ensembl 69_37n +1 known missense c.443 p.E148G 0.004 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA - no_errors IL37 HGNC ENSG00000125571 52 0 0.00 34 11 24.44 - - - JAK3 0 genome.wustl.edu 37 19 17948829 17948829 + Missense_Mutation SNP C C T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 19 17948829 17948829 C T SNP JAK3 ENST00000458235 human ensembl 69_37n -1 known missense c.1613 p.G538D 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 75 0 0.00 38 12 24.00 - - - KIAA1804 0 genome.wustl.edu 37 1 233518092 233518092 + Missense_Mutation SNP C C T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 1 233518092 233518092 C T SNP KIAA1804 ENST00000366624 human ensembl 69_37n +1 known missense c.2746 p.P916S 0.851 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors RP5-862P8.2 Clone_based_vega_gene ENSG00000143674 50 0 0.00 26 4 13.33 - - - KRTAP4-9 0 genome.wustl.edu 37 17 39262243 39262243 + Silent SNP C C A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 17 39262243 39262243 C A SNP KRTAP4-9 ENST00000391415 human ensembl 69_37n +1 known silent c.603 p.R201 0.394 NULL pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 130 0 0.00 38 19 33.33 - - - LIX1 0 genome.wustl.edu 37 5 96430625 96430625 + Missense_Mutation SNP G G C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 5 96430625 96430625 G C SNP LIX1 ENST00000274382 human ensembl 69_37n -1 known missense c.676 p.R226G 0.989 NULL NULL - no_errors LIX1 HGNC ENSG00000145721 72 0 0.00 16 17 51.52 - - - MPP7 0 genome.wustl.edu 37 10 28378743 28378743 + Missense_Mutation SNP C C G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 10 28378743 28378743 C G SNP MPP7 ENST00000337532 human ensembl 69_37n -1 known missense c.980 p.S327T 1.000 superfamily_SH3_domain pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP7 HGNC ENSG00000150054 121 0 0.00 39 18 31.58 - - - MSL2 0 genome.wustl.edu 37 3 135870742 135870742 + Silent SNP T T A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 3 135870742 135870742 T A SNP MSL2 ENST00000309993 human ensembl 69_37n -1 known silent c.981 p.S327 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 63 0 0.00 17 24 58.54 - - - NMT2 0 genome.wustl.edu 37 10 15161504 15161504 + Missense_Mutation SNP C C G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 10 15161504 15161504 C G SNP NMT2 ENST00000378143 human ensembl 69_37n -1 known missense c.1101 p.K367N 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 74 0 0.00 47 20 29.85 - - - NOX3 0 genome.wustl.edu 37 6 155761166 155761166 + Missense_Mutation SNP C C A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 6 155761166 155761166 C A SNP NOX3 ENST00000159060 human ensembl 69_37n -1 known missense c.592 p.A198S 0.937 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 66 0 0.00 35 14 28.57 - - - OSCAR 0 genome.wustl.edu 37 19 54600388 54600388 + Frame_Shift_Del DEL G G - TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 19 54600388 54600388 G - DEL OSCAR ENST00000356532 human ensembl 69_37n -1 known frame_shift_del c.146 p.P49fs 0.998 smart_Ig_sub smart_Ig_sub - no_errors OSCAR HGNC ENSG00000170909 33 0 0.00 8 2 20.00 - - - PDILT 0 genome.wustl.edu 37 16 20373852 20373852 + Missense_Mutation SNP C C G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 16 20373852 20373852 C G SNP PDILT ENST00000302451 human ensembl 69_37n -1 known missense c.1290 p.L430F 0.438 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 141 0 0.00 54 11 16.92 - - - PIK3R4 0 genome.wustl.edu 37 3 130447357 130447357 + Missense_Mutation SNP T T C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 3 130447357 130447357 T C SNP PIK3R4 ENST00000356763 human ensembl 69_37n -1 known missense c.1757 p.N586S 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 77 0 0.00 20 22 52.38 - - - PLEC 0 genome.wustl.edu 37 8 144991532 144991532 + Missense_Mutation SNP A A G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 8 144991532 144991532 A G SNP PLEC ENST00000322810 human ensembl 69_37n -1 known missense c.12868 p.S4290P 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 34 0 0.00 9 6 40.00 - - - POLR3A 0 genome.wustl.edu 37 10 79778932 79778932 + Missense_Mutation SNP G G T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 10 79778932 79778932 G T SNP POLR3A ENST00000372371 human ensembl 69_37n -1 known missense c.1277 p.T426K 0.004 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 140 0 0.00 50 30 37.04 - - - RALGAPA1 0 genome.wustl.edu 37 14 36207803 36207803 + Silent SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 14 36207803 36207803 G A SNP RALGAPA1 ENST00000258840 human ensembl 69_37n -1 known silent c.1503 p.N501 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 116 0 0.00 34 14 29.17 - - - RFWD2 0 genome.wustl.edu 37 1 176012377 176012377 + Nonsense_Mutation SNP A A T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 1 176012377 176012377 A T SNP RFWD2 ENST00000459744 human ensembl 69_37n -1 novel nonsense c.716 p.L239* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_start_codon:pseudogene:no_stop_codon RFWD2 HGNC ENSG00000143207 92 0 0.00 26 8 23.53 - - - RPGRIP1L 0 genome.wustl.edu 37 16 53725984 53725984 + Frame_Shift_Del DEL T T - TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 16 53725984 53725984 T - DEL RPGRIP1L ENST00000379925 human ensembl 69_37n -1 known frame_shift_del c.523 p.R175fs 0.985 NULL pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC ENSG00000103494 146 0 0.00 90 25 21.01 - - - RYR2 0 genome.wustl.edu 37 1 237753140 237753140 + Missense_Mutation SNP A A G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 1 237753140 237753140 A G SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.3640 p.N1214D 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 70 0 0.00 40 18 31.03 - - - SEC16A 0 genome.wustl.edu 37 9 139341757 139341757 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 9 139341757 139341757 G A SNP SEC16A ENST00000313050 human ensembl 69_37n -1 known missense c.6619 p.P2207S 0.003 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 28 0 0.00 6 10 62.50 - - - SHANK1 0 genome.wustl.edu 37 19 51217448 51217448 + Missense_Mutation SNP C C A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 19 51217448 51217448 C A SNP SHANK1 ENST00000391814 human ensembl 69_37n -1 known missense c.631 p.D211Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 57 0 0.00 10 29 74.36 - - - SIGLEC15 0 genome.wustl.edu 37 18 43422081 43422081 + Nonsense_Mutation SNP C C T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 18 43422081 43422081 C T SNP SIGLEC15 ENST00000389474 human ensembl 69_37n +1 known nonsense c.916 p.Q306* 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC15 HGNC ENSG00000197046 37 0 0.00 32 9 21.95 - - - STAT6 0 genome.wustl.edu 37 12 57493104 57493104 + Missense_Mutation SNP C C A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 12 57493104 57493104 C A SNP STAT6 ENST00000300134 human ensembl 69_37n -1 known missense c.1864 p.D622Y 1.000 smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 58 0 0.00 15 4 21.05 - - - SWSAP1 0 genome.wustl.edu 37 19 11486428 11486428 + Missense_Mutation SNP G G C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 19 11486428 11486428 G C SNP SWSAP1 ENST00000312423 human ensembl 69_37n +1 known missense c.426 p.Q142H 0.018 NULL NULL - no_errors SWSAP1 HGNC ENSG00000173928 41 0 0.00 26 4 13.33 - - - TCF7L1 0 genome.wustl.edu 37 2 85529633 85529633 + Missense_Mutation SNP C C A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 2 85529633 85529633 C A SNP TCF7L1 ENST00000282111 human ensembl 69_37n +1 known missense c.552 p.H184Q 0.997 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L1 HGNC ENSG00000152284 48 0 0.00 27 8 22.86 - - - TGM1 0 genome.wustl.edu 37 14 24724436 24724436 + Missense_Mutation SNP C C G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 14 24724436 24724436 C G SNP TGM1 ENST00000206765 human ensembl 69_37n -1 known missense c.1669 p.V557L 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 42 0 0.00 17 12 41.38 - - - TNN 0 genome.wustl.edu 37 1 175097249 175097249 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 1 175097249 175097249 G A SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.3127 p.A1043T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 38 0 0.00 10 13 56.52 - - - TNS3 0 genome.wustl.edu 37 7 47481602 47481602 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 7 47481602 47481602 G A SNP TNS3 ENST00000457718 human ensembl 69_37n -1 putative missense c.286 p.R96W 0.001 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Tyr_Pase_cat,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_stop_codon:bad_bp_length_for_coding_region TNS3 HGNC ENSG00000136205 8 0 0.00 1 5 83.33 - - - TP53 0 genome.wustl.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 17 7578394 7578394 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.536 p.H179R 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 46 0 0.00 11 17 60.71 - - - TPSAB1 0 genome.wustl.edu 37 16 1291454 1291454 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 16 1291454 1291454 G A SNP TPSAB1 ENST00000562675 human ensembl 69_37n +1 known missense c.253 p.A85T 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 19 0 0.00 11 4 26.67 - - - TRIM64DP 0 genome.wustl.edu 37 11 89515411 89515411 + RNA SNP G G T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 11 89515411 89515411 G T SNP TRIM64DP ENST00000532821 human ensembl 69_37n +1 known rna NULL NULL 0.938 - - - no_errors TRIM64DP HGNC ENSG00000254751 87 0 0.00 32 12 27.27 - - - TRPM5 0 genome.wustl.edu 37 11 2432879 2432879 + Missense_Mutation SNP C C T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 11 2432879 2432879 C T SNP TRPM5 ENST00000452833 human ensembl 69_37n -1 known missense c.2599 p.V867M 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 40 0 0.00 27 4 12.90 - - - TRPM8 0 genome.wustl.edu 37 2 234871945 234871945 + Missense_Mutation SNP G G A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 2 234871945 234871945 G A SNP TRPM8 ENST00000324695 human ensembl 69_37n +1 known missense c.1673 p.R558Q 0.999 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 100 0 0.00 48 13 21.31 - - - TXK 0 genome.wustl.edu 37 4 48115241 48115241 + Silent SNP A A G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 4 48115241 48115241 A G SNP TXK ENST00000264316 human ensembl 69_37n -1 known silent c.157 p.L53 0.000 superfamily_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 116 0 0.00 38 11 22.45 - - - U2SURP 0 genome.wustl.edu 37 3 142753807 142753807 + Missense_Mutation SNP A A G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 3 142753807 142753807 A G SNP U2SURP ENST00000319822 human ensembl 69_37n +1 known missense c.1931 p.E644G 1.000 superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 83 0 0.00 65 28 30.11 - - - UBN1 0 genome.wustl.edu 37 16 4924574 4924574 + Missense_Mutation SNP T T G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 16 4924574 4924574 T G SNP UBN1 ENST00000586716 human ensembl 69_37n +1 novel missense c.542 p.L181R 0.857 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBN1 HGNC ENSG00000118900 39 0 0.00 27 14 34.15 - - - UGT1A8 0 genome.wustl.edu 37 2 234526969 234526969 + Missense_Mutation SNP A A G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 2 234526969 234526969 A G SNP UGT1A8 ENST00000373450 human ensembl 69_37n +1 known missense c.616 p.R206G 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A8 HGNC ENSG00000242366 127 0 0.00 50 17 25.37 - - - VPS13C 0 genome.wustl.edu 37 15 62211583 62211583 + Missense_Mutation SNP C C G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 15 62211583 62211583 C G SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.7543 p.V2515L 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 76 0 0.00 26 23 46.94 - - - YWHAH 0 genome.wustl.edu 37 22 32352686 32352686 + Silent SNP T T C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 22 32352686 32352686 T C SNP YWHAH ENST00000248975 human ensembl 69_37n +1 known silent c.648 p.Y216 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAH HGNC ENSG00000128245 39 0 0.00 17 9 34.62 - - - ZC2HC1A 0 genome.wustl.edu 37 8 79598812 79598814 + In_Frame_Del DEL TCC TCC - TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 8 79598812 79598814 TCC - DEL ZC2HC1A ENST00000263849 human ensembl 69_37n +1 known in_frame_del c.321_323 p.P111in_frame_del 0.987:1.000:1.000 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 42 0 0.00 18 2 10.00 - - - ZFYVE28 0 genome.wustl.edu 37 4 2341251 2341251 + Silent SNP C C G TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 4 2341251 2341251 C G SNP ZFYVE28 ENST00000290974 human ensembl 69_37n -1 known silent c.450 p.L150 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 37 0 0.00 9 4 30.77 - - - ZNF260 0 genome.wustl.edu 37 19 37006039 37006039 + Silent SNP T T C TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 204e4ef3-e6b8-469f-9024-56c6f6f07afd 99c296d2-1d17-47c0-b036-239170e2ff1a 19 37006039 37006039 T C SNP ZNF260 ENST00000523638 human ensembl 69_37n -1 known silent c.102 p.K34 0.687 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 56 0 0.00 34 8 19.05 - - -