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 PSRC1 0 genome.wustl.edu 37 1 109823458 109823458 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 109823458 109823458 C T SNP PSRC1 ENST00000409138 human ensembl 74_37 -1 known missense c.935 p.R312Q 0.999 NULL NULL - no_errors PSRC1 HGNC ENSG00000134222 72 0 0 37 5 11.9048 FLG 0 genome.wustl.edu 37 1 152283559 152283559 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 152283559 152283559 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3803 p.S1268Y 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 527 0 0 192 64 25 FLG 0 genome.wustl.edu 37 1 152286203 152286203 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 152286203 152286203 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1159 p.G387S 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 803 1 0.124378 312 101 24.4552 IQGAP3 0 genome.wustl.edu 37 1 156496382 156496382 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 156496382 156496382 G T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.4792 p.Q1598K 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 56 0 0 44 6 12 ADCY10 0 genome.wustl.edu 37 1 167874377 167874377 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 167874377 167874377 A G SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.2 p.M1T 0.750 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 156 0 0 63 20 24.0964 HMCN1 0 genome.wustl.edu 37 1 186114580 186114580 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 186114580 186114580 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14312 p.R4771Q 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 127 0 0 31 13 29.5455 AKR7A3 0 genome.wustl.edu 37 1 19612421 19612421 + Silent SNP G G C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 19612421 19612421 G C SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known silent c.468 p.L156 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 110 0 0 36 11 23.4043 CFHR3 0 genome.wustl.edu 37 1 196749062 196749062 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 196749062 196749062 C T SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.389 p.T130M 0.117 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 101 0 0 49 13 20.9677 PM20D1 0 genome.wustl.edu 37 1 205817084 205817084 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 205817084 205817084 G A SNP PM20D1 ENST00000367136 human ensembl 74_37 -1 known missense c.185 p.P62L 1.000 NULL pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 85 0 0 36 15 29.4118 FMN2 0 genome.wustl.edu 37 1 240371492 240371492 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 240371492 240371492 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3380 p.A1127V 0.004 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 48 0 0 19 5 20.8333 DLGAP3 0 genome.wustl.edu 37 1 35370318 35370318 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 35370318 35370318 G T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.667 p.H223N 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 120 0 0 47 12 20.339 PPCS 0 genome.wustl.edu 37 1 42925652 42925652 + RNA SNP A A C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 42925652 42925652 A C SNP PPCS ENST00000469615 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors PPCS HGNC ENSG00000127125 27 0 0 23 4 14.8148 TIE1 0 genome.wustl.edu 37 1 43778104 43778104 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 43778104 43778104 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1759 p.G587R 0.014 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 76 0 0 28 10 26.3158 CYP4Z2P 0 genome.wustl.edu 37 1 47310260 47310260 + RNA SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 47310260 47310260 C T SNP CYP4Z2P ENST00000505841 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors CYP4Z2P HGNC ENSG00000154198 50 0 0 22 8 26.6667 CYP4Z2P 0 genome.wustl.edu 37 1 47351203 47351203 + RNA SNP A A T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 47351203 47351203 A T SNP CYP4Z2P ENST00000505841 human ensembl 74_37 -1 known rna NULL NULL 0.848 - - - no_errors CYP4Z2P HGNC ENSG00000154198 62 0 0 27 8 22.8571 ORC1 0 genome.wustl.edu 37 1 52861837 52861837 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 52861837 52861837 G A SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known missense c.602 p.S201F 0.040 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 126 0 0 53 19 26.3889 ROR1 0 genome.wustl.edu 37 1 64643444 64643444 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 64643444 64643444 G A SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.1720 p.G574S 1.000 pirsf_Tyr_kinase_rcpt_ROR,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 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 114 0 0 45 13 22.4138 KLHL21 0 genome.wustl.edu 37 1 6653646 6653646 + Nonsense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 6653646 6653646 C A SNP KLHL21 ENST00000377658 human ensembl 74_37 -1 known nonsense c.1573 p.E525* 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 60 0 0 28 5 15.1515 LRRC8B 0 genome.wustl.edu 37 1 90050004 90050004 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 90050004 90050004 C T SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.1795 p.R599C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 130 0 0 53 19 26.3889 DOCK1 0 genome.wustl.edu 37 10 129179558 129179558 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 10 129179558 129179558 T C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.3670 p.C1224R 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 159 0 0 50 15 23.0769 CADM1 0 genome.wustl.edu 37 11 115099839 115099839 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 115099839 115099839 C A SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.715 p.V239L 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 69 0 0 23 9 28.125 APOA5 0 genome.wustl.edu 37 11 116661339 116661339 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 116661339 116661339 G A SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known silent c.606 p.I202 0.867 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 62 0 0 31 7 18.4211 GRIK4 0 genome.wustl.edu 37 11 120531035 120531035 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 120531035 120531035 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.8 p.R3H 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 123 0 0 65 18 21.6867 GRIK4 0 genome.wustl.edu 37 11 120732714 120732714 + Missense_Mutation SNP A A T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 120732714 120732714 A T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.791 p.N264I 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 362 0 0 135 145 51.7857 MUC5B 0 genome.wustl.edu 37 11 1263339 1263339 + Silent SNP G G C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 1263339 1263339 G C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.5238 p.T1746 0.000 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 46 0 0 21 7 25 ADAMTS8 0 genome.wustl.edu 37 11 130297579 130297579 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 130297579 130297579 C T SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known silent c.603 p.P201 0.003 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 12 0 0 11 6 35.2941 PTPRJ 0 genome.wustl.edu 37 11 48149352 48149352 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 48149352 48149352 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1114 p.V372I 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 129 0 0 48 13 21.3115 OR9G4 0 genome.wustl.edu 37 11 56510343 56510343 + Silent SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 56510343 56510343 G T SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known silent c.945 p.A315 0.620 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC ENSG00000172457 134 0 0 56 25 30.8642 BAD 0 genome.wustl.edu 37 11 64037700 64037700 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 64037700 64037700 C T SNP BAD ENST00000309032 human ensembl 74_37 -1 known missense c.488 p.S163N 0.994 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC ENSG00000002330 74 0 0 32 8 20 APBB1 0 genome.wustl.edu 37 11 6432394 6432394 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 6432394 6432394 G T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.184 p.P62T 1.000 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 244 0 0 110 30 21.4286 SLC22A12 0 genome.wustl.edu 37 11 64360337 64360337 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 11 64360337 64360337 C T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known silent c.489 p.C163 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 126 0 0 48 15 23.8095 WSCD2 0 genome.wustl.edu 37 12 108641943 108641943 + Silent SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 108641943 108641943 G T SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known silent c.1581 p.L527 0.998 superfamily_P-loop_NTPase pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 100 0 0 29 14 32.5581 PDZRN4 0 genome.wustl.edu 37 12 41900470 41900470 + Silent SNP T T A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 41900470 41900470 T A SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known silent c.1056 p.P352 0.207 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 107 0 0 49 17 25.7576 KRT6C 0 genome.wustl.edu 37 12 52867050 52867050 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 52867050 52867050 G A SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.472 p.R158W 0.028 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 60 0 0 15 18 54.5455 MAP3K12 0 genome.wustl.edu 37 12 53879109 53879109 + Silent SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 53879109 53879109 G T SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known silent c.873 p.V291 0.994 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 171 0 0 79 25 24.0385 MIP 0 genome.wustl.edu 37 12 56862799 56862799 + RNA SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 56862799 56862799 C A SNP MIP ENST00000555551 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MIP HGNC ENSG00000135517 77 0 0 40 5 11.1111 MARS 0 genome.wustl.edu 37 12 57898029 57898029 + Nonsense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 57898029 57898029 C T SNP MARS ENST00000262027 human ensembl 74_37 +1 known nonsense c.1315 p.R439* 0.972 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 139 0 0 47 5 9.61538 OS9 0 genome.wustl.edu 37 12 58109707 58109707 + Silent SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 58109707 58109707 T G SNP OS9 ENST00000315970 human ensembl 74_37 +1 known silent c.744 p.P248 0.008 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 191 0 0 68 6 8.10811 C12orf66 0 genome.wustl.edu 37 12 64587770 64587770 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 64587770 64587770 C T SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.1190 p.R397H 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 242 1 0.411523 85 29 25.4386 GDF3 0 genome.wustl.edu 37 12 7842932 7842932 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 7842932 7842932 C T SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known missense c.637 p.G213R 0.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 133 0 0 55 7 11.2903 MGAT4C 0 genome.wustl.edu 37 12 86373542 86373542 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 86373542 86373542 G A SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.1049 p.T350M 0.301 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 121 0 0 64 12 15.7895 MYO16 0 genome.wustl.edu 37 13 109792648 109792648 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 13 109792648 109792648 G T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.4022 p.S1341I 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 114 0 0 17 12 41.3793 TNFRSF19 0 genome.wustl.edu 37 13 24242119 24242119 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 13 24242119 24242119 G T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.737 p.G246V 1.000 prints_TNFR_19 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 16 0 0 3 5 62.5 RAP2A 0 genome.wustl.edu 37 13 98116563 98116563 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 13 98116563 98116563 G T SNP RAP2A ENST00000245304 human ensembl 74_37 +1 known missense c.419 p.C140F 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2A HGNC ENSG00000125249 155 0 0 53 43 44.7917 PRKD1 0 genome.wustl.edu 37 14 30102110 30102110 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 14 30102110 30102110 G A SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1357 p.L453F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 271 0 0 184 29 13.615 BAZ1A 0 genome.wustl.edu 37 14 35224069 35224069 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 14 35224069 35224069 G A SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.4438 p.R1480C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 83 0 0 71 10 12.3457 LRFN5 0 genome.wustl.edu 37 14 42356169 42356169 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 14 42356169 42356169 T G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.341 p.I114S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 85 0 0 60 16 21.0526 GNPNAT1 0 genome.wustl.edu 37 14 53251263 53251263 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 14 53251263 53251263 C T SNP GNPNAT1 ENST00000216410 human ensembl 74_37 -1 known missense c.106 p.G36R 1.000 superfamily_Acyl_CoA_acyltransferase pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 71 0 0 72 8 10 SYNDIG1L 0 genome.wustl.edu 37 14 74876050 74876050 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 14 74876050 74876050 T C SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known missense c.398 p.D133G 0.079 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 264 0 0 91 36 28.3465 KCNK13 0 genome.wustl.edu 37 14 90651110 90651110 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 14 90651110 90651110 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known silent c.990 p.D330 0.129 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 179 0 0 48 15 23.8095 SNORD115-37 0 genome.wustl.edu 37 15 25483141 25483141 + RNA SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 15 25483141 25483141 G A SNP SNORD115-37 ENST00000363768 human ensembl 74_37 +1 known rna NULL NULL 0.238 - - - no_errors SNORD115-37 HGNC ENSG00000200638 170 0 0 39 15 27.7778 SNORD115-37 0 genome.wustl.edu 37 15 25483173 25483173 + RNA SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 15 25483173 25483173 G A SNP SNORD115-37 ENST00000363768 human ensembl 74_37 +1 known rna NULL NULL 0.929 - - - no_errors SNORD115-37 HGNC ENSG00000200638 167 0 0 36 15 29.4118 DENND4A 0 genome.wustl.edu 37 15 65988761 65988761 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 15 65988761 65988761 C T SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.3022 p.V1008I 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 62 0 0 20 6 23.0769 CORO2B 0 genome.wustl.edu 37 15 69004026 69004026 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 15 69004026 69004026 G A SNP CORO2B ENST00000566799 human ensembl 74_37 +1 known missense c.629 p.R210H 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 73 0 0 9 23 71.875 TICRR 0 genome.wustl.edu 37 15 90164697 90164697 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 15 90164697 90164697 G T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.3228 p.M1076I 0.386 NULL NULL - no_errors TICRR HGNC ENSG00000140534 89 0 0 31 12 27.907 TICRR 0 genome.wustl.edu 37 15 90166910 90166910 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 15 90166910 90166910 G T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.3369 p.R1123S 0.001 NULL NULL - no_errors TICRR HGNC ENSG00000140534 418 0 0 221 18 7.53138 GP2 0 genome.wustl.edu 37 16 20335179 20335179 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 20335179 20335179 C A SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.494 p.R165L 0.093 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 53 0 0 17 5 22.7273 PKD1 0 genome.wustl.edu 37 16 2143019 2143019 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 2143019 2143019 C A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.11092 p.A3698S 0.937 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 206 1 0.483092 85 24 22.0183 RGS11 0 genome.wustl.edu 37 16 323823 323823 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 323823 323823 C G SNP RGS11 ENST00000397770 human ensembl 74_37 -1 known missense c.443 p.R148P 0.550 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS11 HGNC ENSG00000076344 148 0 0 45 7 13.4615 TRAP1 0 genome.wustl.edu 37 16 3724366 3724366 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 3724366 3724366 G A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.1018 p.R340C 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 80 0 0 46 8 14.8148 NKD1 0 genome.wustl.edu 37 16 50642255 50642255 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 50642255 50642255 C T SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known silent c.243 p.D81 0.991 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 182 0 0 79 24 23.301 SEC14L5 0 genome.wustl.edu 37 16 5064914 5064914 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 5064914 5064914 C T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known silent c.2034 p.A678 0.069 NULL pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 103 0 0 28 7 20 NDRG4 0 genome.wustl.edu 37 16 58538551 58538551 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 58538551 58538551 G T SNP NDRG4 ENST00000394282 human ensembl 74_37 +1 known missense c.526 p.A176S 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 155 0 0 39 11 22 RBFOX1 0 genome.wustl.edu 37 16 7383068 7383068 + Silent SNP T T A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 7383068 7383068 T A SNP RBFOX1 ENST00000311745 human ensembl 74_37 +1 known silent c.66 p.P22 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 165 0 0 85 28 24.7788 MLKL 0 genome.wustl.edu 37 16 74716642 74716642 + Missense_Mutation SNP A A C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 74716642 74716642 A C SNP MLKL ENST00000308807 human ensembl 74_37 -1 known missense c.863 p.L288R 0.018 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 101 0 0 43 6 12.2449 C16orf46 0 genome.wustl.edu 37 16 81097557 81097557 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 16 81097557 81097557 C A SNP C16orf46 ENST00000299578 human ensembl 74_37 -1 known missense c.4 p.D2Y 1.000 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 108 0 0 46 17 26.9841 KRT16P3 0 genome.wustl.edu 37 17 20405874 20405874 + RNA SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 20405874 20405874 G A SNP KRT16P3 ENST00000580113 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KRT16P3 HGNC ENSG00000214822 87 0 0 52 5 8.77193 KRT36 0 genome.wustl.edu 37 17 39645762 39645762 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 39645762 39645762 C T SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known missense c.355 p.A119T 0.808 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 206 0 0 118 24 16.9014 SLC52A1 0 genome.wustl.edu 37 17 4936898 4936898 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 4936898 4936898 C T SNP SLC52A1 ENST00000254853 human ensembl 74_37 -1 known missense c.886 p.V296M 0.985 pfam_Endogenous_retrovirus_rcpt pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A1 HGNC ENSG00000132517 71 0 0 30 7 18.9189 ZNF232 0 genome.wustl.edu 37 17 5012615 5012615 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 5012615 5012615 C T SNP ZNF232 ENST00000416429 human ensembl 74_37 -1 known missense c.491 p.G164E 0.944 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 151 0 0 44 4 8.33333 DVL2 0 genome.wustl.edu 37 17 7132556 7132556 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 7132556 7132556 C T SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known silent c.855 p.Q285 0.994 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 195 0 0 56 7 11.1111 CD300A 0 genome.wustl.edu 37 17 72470705 72470705 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 72470705 72470705 G A SNP CD300A ENST00000360141 human ensembl 74_37 +1 known silent c.414 p.A138 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 176 0 0 42 10 19.2308 SEC14L1 0 genome.wustl.edu 37 17 75186883 75186883 + Splice_Site SNP A A T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 75186883 75186883 A T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known splice_site c.64-2 e2-2 1.000 - - - no_errors SEC14L1 HGNC ENSG00000129657 116 0 0 32 18 36 ARHGEF15 0 genome.wustl.edu 37 17 8216468 8216468 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 8216468 8216468 T C SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.830 p.L277P 0.991 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 136 0 0 39 5 11.3636 PIK3C3 0 genome.wustl.edu 37 18 39570432 39570432 + Nonsense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 18 39570432 39570432 C T SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known nonsense c.628 p.R210* 1.000 pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 71 0 0 50 9 15.2542 ST8SIA5 0 genome.wustl.edu 37 18 44272196 44272196 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 18 44272196 44272196 C G SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known missense c.247 p.D83H 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 135 0 0 35 5 12.5 SMAD4 0 genome.wustl.edu 37 18 48593393 48593393 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 18 48593393 48593393 C G SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1144 p.H382D 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 145 0 0 37 16 30.1887 NETO1 0 genome.wustl.edu 37 18 70417501 70417501 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 18 70417501 70417501 T G SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.1337 p.N446T 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 65 0 0 18 12 40 ZNF491 0 genome.wustl.edu 37 19 11917976 11917976 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 11917976 11917976 G T SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known missense c.1208 p.R403I 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 98 0 0 30 7 18.9189 TSHZ3 0 genome.wustl.edu 37 19 31769087 31769087 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 31769087 31769087 G T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.1612 p.Q538K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 285 0 0 122 9 6.87023 FFAR2 0 genome.wustl.edu 37 19 35940919 35940919 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 35940919 35940919 G A SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known silent c.303 p.A101 0.970 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 56 0 0 35 4 10.2564 TRPM4 0 genome.wustl.edu 37 19 49661469 49661469 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 49661469 49661469 C A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.45 p.F15L 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 330 1 0.302115 115 46 28.5714 LRRC4B 0 genome.wustl.edu 37 19 51022345 51022345 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 51022345 51022345 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known silent c.625 p.L209 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 55 0 0 17 7 29.1667 SIGLEC10 0 genome.wustl.edu 37 19 51919949 51919949 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 51919949 51919949 G A SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.677 p.A226V 0.002 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 51 0 0 36 3 7.69231 SIGLEC5 0 genome.wustl.edu 37 19 52149516 52149516 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 52149516 52149516 C A SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.415 p.V139L 0.911 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 96 0 0 37 21 36.2069 MIR125A 0 genome.wustl.edu 37 19 52196032 52196032 + RNA SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 52196032 52196032 C T SNP MIR125A ENST00000602324 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-125a miRBase ENSG00000269959 58 0 0 21 4 16 LILRA3 0 genome.wustl.edu 37 19 54802027 54802027 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 54802027 54802027 C T SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known silent c.1161 p.V387 0.889 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 299 1 0.333333 101 23 18.5484 FCAR 0 genome.wustl.edu 37 19 55396777 55396777 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 55396777 55396777 G A SNP FCAR ENST00000355524 human ensembl 74_37 +1 known silent c.201 p.T67 0.000 smart_Ig_sub smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 112 0 0 49 20 28.9855 NCR1 0 genome.wustl.edu 37 19 55421410 55421410 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 55421410 55421410 G A SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known missense c.667 p.D223N 0.014 NULL smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 292 0 0 100 29 22.4806 EMR4P 0 genome.wustl.edu 37 19 6981763 6981763 + RNA SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 6981763 6981763 G A SNP EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMR4P HGNC ENSG00000268758 47 0 0 25 3 10.7143 ADAMTS10 0 genome.wustl.edu 37 19 8668685 8668685 + Silent SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 8668685 8668685 T C SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known silent c.519 p.E173 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 75 0 0 20 8 28.5714 ARID3A 0 genome.wustl.edu 37 19 971927 971927 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 971927 971927 C G SNP ARID3A ENST00000263620 human ensembl 74_37 +1 known missense c.1644 p.N548K 0.896 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 121 0 0 57 7 10.9375 RGPD3 0 genome.wustl.edu 37 2 107040564 107040564 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 107040564 107040564 C T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3859 p.E1287K 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 300 0 0 107 7 6.14035 THSD7B 0 genome.wustl.edu 37 2 138169203 138169203 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 138169203 138169203 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2720 p.C907Y 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 204 0 0 35 30 46.1538 NEUROD1 0 genome.wustl.edu 37 2 182542645 182542645 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 182542645 182542645 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known missense c.943 p.G315R 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 103 0 0 51 33 39.2857 ANKAR 0 genome.wustl.edu 37 2 190560982 190560982 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 190560982 190560982 C T SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.1595 p.A532V 0.030 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 129 0 0 64 4 5.88235 DNAH7 0 genome.wustl.edu 37 2 196737066 196737066 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 196737066 196737066 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.6541 p.R2181C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 223 0 0 96 7 6.79612 PLCL1 0 genome.wustl.edu 37 2 198948639 198948639 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 198948639 198948639 G A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.398 p.R133H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 80 0 0 38 4 9.52381 ERBB4 0 genome.wustl.edu 37 2 212248608 212248608 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 212248608 212248608 T G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3659 p.E1220A 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 317 0 0 158 13 7.60234 SPEG 0 genome.wustl.edu 37 2 220329225 220329225 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 220329225 220329225 C T SNP SPEG ENST00000396695 human ensembl 74_37 +1 known missense c.400 p.R134W 0.983 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 122 0 0 36 25 40.9836 SLC19A3 0 genome.wustl.edu 37 2 228566967 228566967 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 228566967 228566967 C A SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.68 p.G23V 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 113 0 0 74 11 12.9412 TRIP12 0 genome.wustl.edu 37 2 230664072 230664072 + Missense_Mutation SNP T T A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 230664072 230664072 T A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.3009 p.K1003N 0.999 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 114 0 0 58 5 7.93651 TXNDC9 0 genome.wustl.edu 37 2 99944024 99944024 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 2 99944024 99944024 G A SNP TXNDC9 ENST00000264255 human ensembl 74_37 -1 known silent c.282 p.C94 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC9 HGNC ENSG00000115514 115 0 0 57 7 10.9375 SNORD12C 0 genome.wustl.edu 37 20 47895512 47895512 + RNA SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 20 47895512 47895512 C G SNP SNORD12C ENST00000386307 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD12C HGNC ENSG00000209042 59 0 0 31 9 22.5 ZGPAT 0 genome.wustl.edu 37 20 62366235 62366235 + RNA SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 20 62366235 62366235 C G SNP ZGPAT ENST00000478385 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors ZGPAT HGNC ENSG00000197114 27 0 0 9 4 30.7692 SIM2 0 genome.wustl.edu 37 21 38117308 38117308 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 21 38117308 38117308 C A SNP SIM2 ENST00000290399 human ensembl 74_37 +1 known missense c.1447 p.L483M 0.998 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM2 HGNC ENSG00000159263 140 0 0 40 4 9.09091 ENSG00000161103 0 genome.wustl.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 22 18844763 18844763 T C SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 8 0 0 9 3 25 ENSG00000161103 0 genome.wustl.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 22 18844766 18844766 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.223 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 8 0 0 9 4 30.7692 PIWIL3 0 genome.wustl.edu 37 22 25153973 25153973 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 22 25153973 25153973 T C SNP PIWIL3 ENST00000332271 human ensembl 74_37 -1 known missense c.257 p.H86R 0.003 NULL pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 435 0 0 182 53 22.5532 SEZ6L 0 genome.wustl.edu 37 22 26688388 26688388 + Silent SNP A A C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 22 26688388 26688388 A C SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.111 p.G37 0.750 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 19 0 0 36 4 10 ISX 0 genome.wustl.edu 37 22 35463151 35463151 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 22 35463151 35463151 C A SNP ISX ENST00000308700 human ensembl 74_37 +1 known missense c.71 p.P24Q 0.954 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ISX HGNC ENSG00000175329 57 0 0 15 6 28.5714 POLQ 0 genome.wustl.edu 37 3 121228447 121228447 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 121228447 121228447 C A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.1920 p.K640N 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 130 0 0 63 10 13.6986 XRN1 0 genome.wustl.edu 37 3 142031582 142031582 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 142031582 142031582 G A SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.4676 p.S1559L 0.992 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 295 0 0 103 15 12.7119 P2RY1 0 genome.wustl.edu 37 3 152554180 152554180 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 152554180 152554180 C T SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known silent c.609 p.Y203 0.467 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 199 1 0.5 44 50 53.1915 RFTN1 0 genome.wustl.edu 37 3 16475457 16475457 + Nonsense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 16475457 16475457 G T SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known nonsense c.233 p.S78* 0.103 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 150 0 0 56 24 30 CCDC50 0 genome.wustl.edu 37 3 191107374 191107374 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 191107374 191107374 C T SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known missense c.1412 p.S471L 0.986 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 241 0 0 85 35 29.1667 CHL1 0 genome.wustl.edu 37 3 407660 407660 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 407660 407660 A G SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1613 p.K538R 0.926 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 79 0 0 22 4 15.3846 GRM2 0 genome.wustl.edu 37 3 51749520 51749520 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 51749520 51749520 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.1731 p.L577 0.404 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 131 0 0 49 20 28.9855 GRM7 0 genome.wustl.edu 37 3 7456790 7456790 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 7456790 7456790 T G SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.1114 p.F372V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 110 0 0 35 20 36.3636 IL17RC 0 genome.wustl.edu 37 3 9971770 9971770 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 3 9971770 9971770 C A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known missense c.1428 p.D476E 0.033 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 98 0 0 48 14 22.5806 HSP90AA4P 0 genome.wustl.edu 37 4 190395240 190395240 + RNA SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 4 190395240 190395240 C T SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 45 0 0 4 6 60 LPHN3 0 genome.wustl.edu 37 4 62933888 62933888 + Silent SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 4 62933888 62933888 C A SNP LPHN3 ENST00000512091 human ensembl 74_37 +1 known silent c.3615 p.P1205 1.000 NULL pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_GPCR_2_latrophilin_rcpt_C,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 109 0 0 29 4 12.1212 DMXL1 0 genome.wustl.edu 37 5 118484637 118484637 + Missense_Mutation SNP A A T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 5 118484637 118484637 A T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.3115 p.S1039C 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 281 0 0 123 9 6.81818 TCERG1 0 genome.wustl.edu 37 5 145838886 145838886 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 5 145838886 145838886 C T SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known missense c.878 p.A293V 0.982 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 244 0 0 78 10 11.3636 MAT2B 0 genome.wustl.edu 37 5 162930419 162930419 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 5 162930419 162930419 G A SNP MAT2B ENST00000280969 human ensembl 74_37 +1 known missense c.19 p.D7N 1.000 NULL pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 143 0 0 53 5 8.62069 SLC1A3 0 genome.wustl.edu 37 5 36679893 36679893 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 5 36679893 36679893 G T SNP SLC1A3 ENST00000265113 human ensembl 74_37 +1 known missense c.1025 p.R342L 0.759 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 125 0 0 62 5 7.46269 SLC9A3 0 genome.wustl.edu 37 5 488520 488520 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 5 488520 488520 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.586 p.V196I 0.998 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 68 0 0 16 3 15.7895 ENC1 0 genome.wustl.edu 37 5 73931384 73931384 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 5 73931384 73931384 C T SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known silent c.927 p.K309 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 139 0 0 57 6 9.52381 DMGDH 0 genome.wustl.edu 37 5 78338268 78338268 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 5 78338268 78338268 C A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.1031 p.R344L 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 163 1 0.609756 59 8 11.9403 TTC37 0 genome.wustl.edu 37 5 94826655 94826655 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 5 94826655 94826655 C A SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.3888 p.R1296S 0.987 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 76 0 0 34 4 10.5263 VARS2 0 genome.wustl.edu 37 6 30890881 30890881 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 30890881 30890881 C T SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.2276 p.A759V 0.999 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 160 0 0 91 19 17.2727 VWA7 0 genome.wustl.edu 37 6 31733757 31733757 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 31733757 31733757 A G SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known missense c.2402 p.V801A 0.959 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 358 0 0 143 29 16.8605 TRERF1 0 genome.wustl.edu 37 6 42227349 42227349 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 42227349 42227349 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.2057 p.P686L 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 105 1 0.943396 44 8 15.3846 ENPP5 0 genome.wustl.edu 37 6 46135702 46135702 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 46135702 46135702 G A SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known missense c.298 p.R100W 0.028 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 98 0 0 46 18 28.125 KIAA1586 0 genome.wustl.edu 37 6 56918804 56918804 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 56918804 56918804 T C SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.1507 p.Y503H 0.923 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 105 0 0 37 7 15.9091 RIMS1 0 genome.wustl.edu 37 6 72678732 72678732 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 72678732 72678732 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.211 p.R71G 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ 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 RIMS1 HGNC ENSG00000079841 186 0 0 73 23 23.9583 SNX14 0 genome.wustl.edu 37 6 86303411 86303411 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 86303411 86303411 C G SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known missense c.26 p.G9A 0.003 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 59 0 0 25 5 16.6667 AKR1B1 0 genome.wustl.edu 37 7 134135621 134135621 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 134135621 134135621 T C SNP AKR1B1 ENST00000285930 human ensembl 74_37 -1 known missense c.268 p.K90E 0.951 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC ENSG00000085662 66 0 0 29 4 12.1212 WDR91 0 genome.wustl.edu 37 7 134889047 134889047 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 134889047 134889047 C T SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known silent c.864 p.S288 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 73 0 0 14 12 46.1538 TMEM213 0 genome.wustl.edu 37 7 138487766 138487766 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 138487766 138487766 C A SNP TMEM213 ENST00000422794 human ensembl 74_37 +1 known missense c.426 p.D142E 0.855 NULL NULL - no_errors TMEM213 HGNC ENSG00000214128 58 0 0 12 6 33.3333 TAS2R41 0 genome.wustl.edu 37 7 143175728 143175728 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 143175728 143175728 G A SNP TAS2R41 ENST00000408916 human ensembl 74_37 +1 known missense c.763 p.A255T 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 158 0 0 49 5 9.25926 SLC4A2 0 genome.wustl.edu 37 7 150772385 150772385 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 150772385 150772385 G A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.3091 p.G1031S 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 65 0 0 16 6 27.2727 EPDR1 0 genome.wustl.edu 37 7 37989889 37989889 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 37989889 37989889 C T SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known missense c.926 p.T309M 0.932 pfam_Ependymin,smart_Ependymin,prints_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 42 0 0 34 10 22.7273 TNS3 0 genome.wustl.edu 37 7 47343060 47343060 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 47343060 47343060 G T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.2945 p.S982Y 0.029 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 53 0 0 25 5 16.6667 ABCA13 0 genome.wustl.edu 37 7 48443427 48443427 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 48443427 48443427 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.12021 p.D4007E 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 50 0 0 24 4 14.2857 FZD1 0 genome.wustl.edu 37 7 90895695 90895695 + Silent SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 7 90895695 90895695 T C SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known silent c.1500 p.F500 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 327 0 0 99 6 5.71429 CSMD3 0 genome.wustl.edu 37 8 113332148 113332148 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 8 113332148 113332148 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7228 p.D2410N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 194 0 0 46 21 31.3433 NRG1 0 genome.wustl.edu 37 8 32505745 32505745 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 8 32505745 32505745 C T SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known missense c.509 p.A170V 0.000 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 168 0 0 65 25 27.7778 DDHD2 0 genome.wustl.edu 37 8 38095671 38095671 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 8 38095671 38095671 G A SNP DDHD2 ENST00000397166 human ensembl 74_37 +1 known missense c.566 p.G189D 1.000 NULL pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 111 0 0 46 16 25.8065 FABP4 0 genome.wustl.edu 37 8 82392661 82392661 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 8 82392661 82392661 C A SNP FABP4 ENST00000256104 human ensembl 74_37 -1 known missense c.246 p.K82N 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP4 HGNC ENSG00000170323 169 0 0 71 5 6.57895 RBM12B 0 genome.wustl.edu 37 8 94746335 94746335 + Silent SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 8 94746335 94746335 T C SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known silent c.2304 p.P768 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 141 0 0 69 20 22.4719 RBM12B 0 genome.wustl.edu 37 8 94746349 94746349 + Silent SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 8 94746349 94746349 T G SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known silent c.2290 p.R764 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 130 0 0 82 12 12.766 TSPYL5 0 genome.wustl.edu 37 8 98289373 98289373 + Nonsense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 8 98289373 98289373 G A SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known nonsense c.700 p.R234* 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 86 0 0 48 13 21.3115 CYLC2 0 genome.wustl.edu 37 9 105767544 105767544 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 9 105767544 105767544 G A SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.631 p.G211R 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 106 0 0 16 8 33.3333 SVEP1 0 genome.wustl.edu 37 9 113173397 113173397 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 9 113173397 113173397 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.6594 p.T2198 0.102 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 99 0 0 32 11 25.5814 LRSAM1 0 genome.wustl.edu 37 9 130219598 130219598 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 9 130219598 130219598 C A SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known missense c.178 p.L60M 1.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 66 0 0 30 2 6.25 CERCAM 0 genome.wustl.edu 37 9 131186739 131186739 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 9 131186739 131186739 C T SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known silent c.612 p.R204 0.857 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 147 0 0 88 22 20 LAMC3 0 genome.wustl.edu 37 9 133914321 133914321 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 9 133914321 133914321 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.1047 p.G349 0.235 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 149 0 0 65 11 14.4737 COL5A1 0 genome.wustl.edu 37 9 137708924 137708924 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 9 137708924 137708924 G T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.4175 p.R1392M 1.000 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 COL5A1 HGNC ENSG00000130635 83 0 0 30 8 21.0526 MTAP 0 genome.wustl.edu 37 9 21854740 21854740 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 9 21854740 21854740 C T SNP MTAP ENST00000380172 human ensembl 74_37 +1 known silent c.561 p.R187 0.619 pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP - no_errors MTAP HGNC ENSG00000099810 125 0 0 42 6 12.5 AKAP14 0 genome.wustl.edu 37 X 119037549 119037549 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 X 119037549 119037549 G A SNP AKAP14 ENST00000371431 human ensembl 74_37 +1 known silent c.261 p.S87 0.109 NULL NULL - no_errors AKAP14 HGNC ENSG00000186471 29 0 0 9 16 64 ZNF75D 0 genome.wustl.edu 37 X 134426308 134426308 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 X 134426308 134426308 G T SNP ZNF75D ENST00000370766 human ensembl 74_37 -1 known missense c.503 p.P168Q 0.480 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 101 0 0 23 26 53.0612 PNMA5 0 genome.wustl.edu 37 X 152159886 152159886 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 X 152159886 152159886 C T SNP PNMA5 ENST00000361887 human ensembl 74_37 -1 known missense c.257 p.G86D 0.022 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 149 0 0 31 37 54.4118 USP9X 0 genome.wustl.edu 37 X 41088922 41088922 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 X 41088922 41088922 A G SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.7321 p.N2441D 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 80 0 0 35 2 5.40541 CCNB3 0 genome.wustl.edu 37 X 50085293 50085293 + Silent SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 X 50085293 50085293 A G SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known silent c.3609 p.L1203 0.961 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 84 0 0 13 20 60.6061 HEPH 0 genome.wustl.edu 37 X 65483491 65483491 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 X 65483491 65483491 T G SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.3367 p.L1123V 0.000 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 81 0 0 24 23 48.9362 AR 0 genome.wustl.edu 37 X 66765882 66765882 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 X 66765882 66765882 C T SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.894 p.S298 0.001 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 44 0 0 11 9 45 KLHL4 0 genome.wustl.edu 37 X 86877278 86877278 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 X 86877278 86877278 T G SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.992 p.L331R 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 37 0 0 7 14 66.6667 GPSM2 0 genome.wustl.edu 37 1 109440679 109440681 + In_Frame_Del DEL AGA AGA - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 109440679 109440681 AGA - DEL GPSM2 ENST00000264126 human ensembl 74_37 +1 known in_frame_del c.513_515 p.E173in_frame_del 0.969:1.000:1.000 smart_TPR_repeat pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 206 0 0 96 7 6.79612 PRDM2 0 genome.wustl.edu 37 1 14105122 14105124 + In_Frame_Del DEL GAA GAA - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 14105122 14105124 GAA - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known in_frame_del c.832_834 p.E281in_frame_del 0.246:0.268:0.274 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 108 0 0 30 11 26.8293 IRF2BP2 0 genome.wustl.edu 37 1 234743437 234743438 + Frame_Shift_Ins INS - - G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 234743437 234743438 - G INS IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel frame_shift_ins c.1210_1209 p.T403fs 1.000:1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 81 0 0 54 13 19.403 LEPR 0 genome.wustl.edu 37 1 66088678 66088678 + RNA DEL T T - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 1 66088678 66088678 T - DEL LEPR ENST00000471762 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LEPR HGNC ENSG00000116678 46 0 0 19 9 32.1429 PIK3C2G 0 genome.wustl.edu 37 12 18491389 18491390 + Frame_Shift_Ins INS - - A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 18491389 18491390 - A INS PIK3C2G ENST00000538779 human ensembl 74_37 +1 known frame_shift_ins c.1302_1303 p.I436fs 0.996:0.999 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 132 0 0 60 20 25 ABCC9 0 genome.wustl.edu 37 12 22059168 22059169 + Frame_Shift_Ins INS - - T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 12 22059168 22059169 - T INS ABCC9 ENST00000261200 human ensembl 74_37 -1 known frame_shift_ins c.1510_1509 p.L503fs 1.000:0.973 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 63 0 0 25 12 32.4324 ZDHHC22 0 genome.wustl.edu 37 14 77600151 77600151 + Frame_Shift_Del DEL C C - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 14 77600151 77600151 C - DEL ZDHHC22 ENST00000319374 human ensembl 74_37 -1 known frame_shift_del c.667 p.V223fs 0.989 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_SSD,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC22 HGNC ENSG00000177108 63 0 0 9 9 50 TP53 0 genome.wustl.edu 37 17 7578474 7578475 + Frame_Shift_Ins INS - - G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 17 7578474 7578475 - G INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.456_455 p.P153fs 0.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 97 0 0 33 3 8.33333 ZC3H4 0 genome.wustl.edu 37 19 47593291 47593305 + In_Frame_Del DEL GTCCTCCTTGCCCAT GTCCTCCTTGCCCAT - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 GTCCTCCTTGCCCAT GTCCTCCTTGCCCAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 19 47593291 47593305 GTCCTCCTTGCCCAT - DEL ZC3H4 ENST00000253048 human ensembl 74_37 -1 known in_frame_del c.648_634 p.MGKED212in_frame_del 1.000:1.000:1.000:0.993:1.000:1.000:0.994:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 151 0 0 60 9 13.0435 TCF20 0 genome.wustl.edu 37 22 42610572 42610573 + In_Frame_Ins INS - - AGG TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 22 42610572 42610573 - AGG INS TCF20 ENST00000359486 human ensembl 74_37 -1 known in_frame_ins c.740_739 p.247in_frame_insS 1.000:1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 138 0 0 76 11 12.6437 MED23 0 genome.wustl.edu 37 6 131948549 131948549 + Frame_Shift_Del DEL C C - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 131948549 131948549 C - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known frame_shift_del c.146 p.G49fs 0.998 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 321 0 0 76 20 20.8333 HIST1H4H 0 genome.wustl.edu 37 6 26285503 26285504 + Frame_Shift_Del DEL CT CT - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 6 26285503 26285504 CT - DEL HIST1H4H ENST00000289352 human ensembl 74_37 -1 known frame_shift_del c.225_224 p.E75fs 1.000:1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4H HGNC ENSG00000158406 135 0 0 44 19 30.1587