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 ABI3BP 25890 genome.wustl.edu 37 3 100541493 100541493 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 100541493 100541493 G T SNP ABI3BP ENST00000383691 human ensembl 70_37 -1 known missense c.679 p.R227S 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ACACB 32 genome.wustl.edu 37 12 109577475 109577475 + Missense_Mutation SNP A A G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 109577475 109577475 A G SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.265 p.R89G 0.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC AGPAT2 10555 genome.wustl.edu 37 9 139568327 139568327 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 139568327 139568327 C T SNP AGPAT2 ENST00000371696 human ensembl 70_37 -1 known silent c.714 p.A238 0.001 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT2 HGNC AK9 221264 genome.wustl.edu 37 6 109837248 109837248 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 109837248 109837248 T C SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.3877 p.I1293V 0.460 smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ALDH3A2 224 genome.wustl.edu 37 17 19555037 19555037 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 19555037 19555037 T C SNP ALDH3A2 ENST00000339618 human ensembl 70_37 +1 known missense c.331 p.W111R 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ANHX 647589 genome.wustl.edu 37 12 133795514 133795514 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 133795514 133795514 C T SNP ANHX ENST00000419717 human ensembl 70_37 -1 known missense c.1097 p.G366E 0.829 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ANHX HGNC ATP2A3 489 genome.wustl.edu 37 17 3833611 3833611 + Missense_Mutation SNP A A G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 3833611 3833611 A G SNP ATP2A3 ENST00000359983 human ensembl 70_37 -1 known missense c.2728 p.C910R 1.000 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ATP2B1 490 genome.wustl.edu 37 12 90003733 90003733 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 90003733 90003733 G T SNP ATP2B1 ENST00000261173 human ensembl 70_37 -1 known missense c.2423 p.A808E 1.000 pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ATP9A 10079 genome.wustl.edu 37 20 50225060 50225060 + Silent SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 20 50225060 50225060 G C SNP ATP9A ENST00000338821 human ensembl 70_37 -1 known silent c.2742 p.L914 0.993 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC BCL9 607 genome.wustl.edu 37 1 147096378 147096378 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 147096378 147096378 C T SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.3899 p.P1300L 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC BPTF 2186 genome.wustl.edu 37 17 65908943 65908943 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 65908943 65908943 C G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.5321 p.S1774C 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC BRWD1 54014 genome.wustl.edu 37 21 40619736 40619736 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 21 40619736 40619736 G A SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.2372 p.S791L 0.387 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC C14orf183 196913 genome.wustl.edu 37 14 50558407 50558407 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 50558407 50558407 C A SNP C14orf183 ENST00000305273 human ensembl 70_37 -1 novel missense c.161 p.G54V 0.005 NULL NULL - no_errors C14orf183 HGNC C3orf70 285382 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 184870595 184870595 G C SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known missense c.17 p.S6W 0.804 NULL NULL - no_errors C3orf70 HGNC CACNA1E 777 genome.wustl.edu 37 1 181453098 181453098 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 181453098 181453098 G C SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.218 p.G73A 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CCDC168 643677 genome.wustl.edu 37 13 103385999 103385999 + Frame_Shift_Del DEL T T - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 13 103385999 103385999 T - DEL CCDC168 ENST00000322527 human ensembl 70_37 -1 known frame_shift_del c.3161 p.K1054fs 0.033 NULL NULL - no_errors CCDC168 HGNC CCDC77 84318 genome.wustl.edu 37 12 498527 498527 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 498527 498527 G A SNP CCDC77 ENST00000537453 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors CCDC77 HGNC CDO1 1036 genome.wustl.edu 37 5 115152070 115152070 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 115152070 115152070 G T SNP CDO1 ENST00000250535 human ensembl 70_37 -1 known missense c.25 p.P9T 1.000 pfam_Cys_dOase_I,superfamily_RmlC_Cupin pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC CEACAM16 388551 genome.wustl.edu 37 19 45213775 45213775 + Silent SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 45213775 45213775 G T SNP CEACAM16 ENST00000405314 human ensembl 70_37 +1 known silent c.1275 p.G425 0.919 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM16 HGNC CEP72 55722 genome.wustl.edu 37 5 624663 624663 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 624663 624663 G C SNP CEP72 ENST00000264935 human ensembl 70_37 +1 known missense c.481 p.E161Q 0.000 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC CLSPN 63967 genome.wustl.edu 37 1 36204766 36204766 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 36204766 36204766 C T SNP CLSPN ENST00000318121 human ensembl 70_37 -1 known missense c.3401 p.R1134Q 1.000 NULL NULL - no_errors CLSPN HGNC CNTN2 6900 genome.wustl.edu 37 1 205042274 205042274 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 205042274 205042274 G A SNP CNTN2 ENST00000331830 human ensembl 70_37 +1 known missense c.2923 p.E975K 0.987 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC COBLL1 22837 genome.wustl.edu 37 2 165561498 165561498 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 165561498 165561498 G A SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known missense c.1312 p.P438S 0.000 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC COL11A1 1301 genome.wustl.edu 37 1 103379961 103379961 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 103379961 103379961 C A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.3961 p.G1321C 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC COL4A2 1284 genome.wustl.edu 37 13 111098209 111098209 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 13 111098209 111098209 G C SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known missense c.991 p.D331H 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC CPE 1363 genome.wustl.edu 37 4 166403452 166403452 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 166403452 166403452 C A SNP CPE ENST00000402744 human ensembl 70_37 +1 known missense c.731 p.S244Y 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC CRLF2 64109 genome.wustl.edu 37 X 1315003 1315003 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 1315003 1315003 C G SNP CRLF2 ENST00000381567 human ensembl 70_37 -1 known missense c.658 p.E220Q 0.003 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF2 HGNC CRTAM 56253 genome.wustl.edu 37 11 122722543 122722543 + Silent SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 122722543 122722543 G C SNP CRTAM ENST00000227348 human ensembl 70_37 +1 known silent c.336 p.V112 0.156 pfam_Ig_V-set,smart_Ig_sub pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors CRTAM HGNC CSF1 1435 genome.wustl.edu 37 1 110466722 110466722 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 110466722 110466722 C T SNP CSF1 ENST00000329608 human ensembl 70_37 +1 known silent c.1479 p.L493 0.004 pfam_MCSF-1,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3351195 3351195 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 3351195 3351195 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known silent c.1401 p.L467 0.156 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CT47B1 643311 genome.wustl.edu 37 X 120008797 120008797 + Missense_Mutation SNP T T A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 120008797 120008797 T A SNP CT47B1 ENST00000371311 human ensembl 70_37 -1 known missense c.728 p.E243V 0.000 NULL NULL - no_errors CT47B1 HGNC CYP46A1 10858 genome.wustl.edu 37 14 100192553 100192553 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 100192553 100192553 C G SNP CYP46A1 ENST00000261835 human ensembl 70_37 +1 known missense c.1292 p.S431C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC CYTH1 9267 genome.wustl.edu 37 17 76672235 76672235 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 76672235 76672235 C A SNP CYTH1 ENST00000361101 human ensembl 70_37 -1 known missense c.1135 p.D379Y 1.000 smart_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH1 HGNC DCLRE1B 64858 genome.wustl.edu 37 1 114454370 114454370 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 114454370 114454370 G C SNP DCLRE1B ENST00000369563 human ensembl 70_37 +1 known missense c.1156 p.E386Q 0.017 NULL pfam_DRMBL - no_errors DCLRE1B HGNC DDX3X 1654 genome.wustl.edu 37 X 41205855 41205855 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 41205855 41205855 C T SNP DDX3X ENST00000399959 human ensembl 70_37 +1 known missense c.1595 p.T532M 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC DIRC2 84925 genome.wustl.edu 37 3 122514354 122514354 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 122514354 122514354 C T SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known silent c.315 p.F105 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC DLC1 10395 genome.wustl.edu 37 8 12990539 12990539 + RNA SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 12990539 12990539 G T SNP DLC1 ENST00000515225 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors DLC1 HGNC DOCK6 57572 genome.wustl.edu 37 19 11323983 11323983 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 11323983 11323983 C T SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.4360 p.E1454K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC DPP8 54878 genome.wustl.edu 37 15 65759487 65759487 + Nonsense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 15 65759487 65759487 G C SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known nonsense c.1659 p.Y553* 0.289 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000218819 0 genome.wustl.edu 37 2 21365697 21365697 + Silent SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 21365697 21365697 T C SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel silent c.5358 p.S1786 0.984 pfam_Tudor,smart_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000221060 0 genome.wustl.edu 37 14 70270921 70270922 + RNA INS - - T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 70270921 70270922 - T INS ENSG00000221060 ENST00000408133 human ensembl 70_37 -1 novel rna NULL NULL 0.001:0.003 - - - no_errors SNORA11 RFAM ENSG00000221398 0 genome.wustl.edu 37 21 35828429 35828429 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 21 35828429 35828429 G A SNP ENSG00000221398 ENST00000408471 human ensembl 70_37 -1 novel rna NULL NULL 0.017 - - - no_errors SNORA11 RFAM ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000235121 0 genome.wustl.edu 37 1 201693999 201693999 + RNA SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 201693999 201693999 G T SNP ENSG00000235121 ENST00000429443 human ensembl 70_37 -1 known rna NULL NULL 0.972 - - - no_errors RP11-90L20.2 Clone_based_vega_gene ENSG00000239569 0 genome.wustl.edu 37 7 104654142 104654142 + RNA SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 104654142 104654142 C T SNP ENSG00000239569 ENST00000453677 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors RP11-325F22.4 Clone_based_vega_gene ENSG00000255200 0 genome.wustl.edu 37 11 64943049 64943050 + RNA INS - - T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 64943049 64943050 - T INS ENSG00000255200 ENST00000534819 human ensembl 70_37 -1 known rna NULL NULL 0.991:0.969 - - - no_errors AP003068.18 Clone_based_vega_gene ENSG00000258334 0 genome.wustl.edu 37 12 49690068 49690068 + RNA SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 49690068 49690068 C T SNP ENSG00000258334 ENST00000553259 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-161H23.9 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102313076 102313076 + RNA SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 15 102313076 102313076 C G SNP ENSG00000259660 ENST00000560757 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000269369 0 genome.wustl.edu 37 9 136568062 136568062 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 136568062 136568062 G A SNP ENSG00000269369 ENST00000601113 human ensembl 70_37 +1 known missense c.458 p.R153Q 0.998 NULL NULL - no_errors AL590710.2 Clone_based_ensembl_gene EPS15 2060 genome.wustl.edu 37 1 51910614 51910614 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 51910614 51910614 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.901 p.H301D 1.000 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC FAM171A1 221061 genome.wustl.edu 37 10 15255565 15255565 + Silent SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 15255565 15255565 G A SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known silent c.2022 p.N674 0.932 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC FAM208A 23272 genome.wustl.edu 37 3 56667374 56667374 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 56667374 56667374 C A SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known nonsense c.3262 p.E1088* 0.996 NULL pfam_DUF3715 - no_errors FAM208A HGNC FGF22 27006 genome.wustl.edu 37 19 643436 643436 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 643436 643436 C G SNP FGF22 ENST00000215530 human ensembl 70_37 +1 known missense c.345 p.F115L 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF22 HGNC FHOD1 29109 genome.wustl.edu 37 16 67268278 67268278 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 67268278 67268278 C T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known missense c.1417 p.E473K 0.578 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC FLJ12825 440101 genome.wustl.edu 37 12 54515302 54515302 + RNA SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 54515302 54515302 T C SNP FLJ12825 ENST00000515617 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-834C11.3 Clone_based_vega_gene FREM3 166752 genome.wustl.edu 37 4 144618077 144618077 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 144618077 144618077 G T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.3752 p.P1251H 0.984 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC FRMD3 257019 genome.wustl.edu 37 9 85863188 85863188 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 85863188 85863188 G T SNP FRMD3 ENST00000304195 human ensembl 70_37 -1 known missense c.1439 p.T480K 0.998 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC FRYL 285527 genome.wustl.edu 37 4 48552714 48552714 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 48552714 48552714 G T SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.4528 p.H1510N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC GLP1R 2740 genome.wustl.edu 37 6 39034011 39034011 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 39034011 39034011 C T SNP GLP1R ENST00000373256 human ensembl 70_37 +1 known silent c.441 p.I147 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC GLYR1 84656 genome.wustl.edu 37 16 4861264 4861264 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 4861264 4861264 G C SNP GLYR1 ENST00000321919 human ensembl 70_37 -1 known missense c.1494 p.F498L 1.000 superfamily_6-PGluconate_DH_C-like pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC GP5 2814 genome.wustl.edu 37 3 194117596 194117596 + Silent SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 194117596 194117596 G A SNP GP5 ENST00000323007 human ensembl 70_37 -1 known silent c.1416 p.C472 0.360 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC GPD1L 23171 genome.wustl.edu 37 3 32200396 32200396 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 32200396 32200396 G T SNP GPD1L ENST00000282541 human ensembl 70_37 +1 known missense c.647 p.C216F 1.000 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC GPR50 9248 genome.wustl.edu 37 X 150349573 150349573 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 150349573 150349573 C T SNP GPR50 ENST00000218316 human ensembl 70_37 +1 known silent c.1518 p.I506 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC C5AR2 27202 genome.wustl.edu 37 19 47844948 47844948 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 47844948 47844948 C G SNP GPR77 ENST00000257267 human ensembl 70_37 +1 known missense c.892 p.Q298E 0.581 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt - no_errors GPR77 HGNC GRIA3 2892 genome.wustl.edu 37 X 122336583 122336583 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 122336583 122336583 C A SNP GRIA3 ENST00000371264 human ensembl 70_37 +1 known missense c.364 p.L122I 0.000 NULL NULL - no_errors GRIA3 HGNC GRM7 2917 genome.wustl.edu 37 3 7348315 7348315 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 7348315 7348315 C G SNP GRM7 ENST00000402647 human ensembl 70_37 +1 known missense c.1009 p.Q337E 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,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 GRTP1 79774 genome.wustl.edu 37 13 114018388 114018388 + RNA SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 13 114018388 114018388 G C SNP GRTP1 ENST00000476439 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors GRTP1 HGNC GSR 2936 genome.wustl.edu 37 8 30539546 30539546 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 30539546 30539546 G A SNP GSR ENST00000221130 human ensembl 70_37 -1 known nonsense c.1186 p.R396* 0.991 tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC HEATR5B 54497 genome.wustl.edu 37 2 37247929 37247929 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 37247929 37247929 C A SNP HEATR5B ENST00000233099 human ensembl 70_37 -1 known missense c.3904 p.A1302S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC HSPA6 3310 genome.wustl.edu 37 1 161495319 161495319 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 161495319 161495319 G A SNP HSPA6 ENST00000309758 human ensembl 70_37 +1 known missense c.871 p.E291K 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC IGF2BP2 10644 genome.wustl.edu 37 3 185375096 185375096 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 185375096 185375096 C T SNP IGF2BP2 ENST00000382199 human ensembl 70_37 -1 known missense c.1364 p.R455K 0.990 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC IGSF9B 22997 genome.wustl.edu 37 11 133801565 133801565 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 133801565 133801565 C T SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known silent c.1236 p.A412 0.913 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC IL33 90865 genome.wustl.edu 37 9 6254555 6254556 + Splice_Site INS - - A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 6254555 6254556 - A INS IL33 ENST00000381434 human ensembl 70_37 +1 known splice_site_ins c.612+2_612+1 e6+2 0.996:0.986 - - - no_errors IL33 HGNC ITGB1BP2 26548 genome.wustl.edu 37 X 70523593 70523593 + RNA SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 70523593 70523593 C T SNP ITGB1BP2 ENST00000465388 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors ITGB1BP2 HGNC KAT6B 23522 genome.wustl.edu 37 10 76744974 76744974 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 76744974 76744974 G T SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known missense c.2510 p.C837F 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC KCNK9 51305 genome.wustl.edu 37 8 140631235 140631235 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 140631235 140631235 G A SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known missense c.391 p.R131C 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC KDM2A 22992 genome.wustl.edu 37 11 67021879 67021879 + Silent SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 67021879 67021879 C A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known silent c.3297 p.L1099 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KDM2B 84678 genome.wustl.edu 37 12 121880220 121880220 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 121880220 121880220 C T SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known silent c.3024 p.L1008 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC KDM4A 9682 genome.wustl.edu 37 1 44163650 44163650 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 44163650 44163650 C A SNP KDM4A ENST00000372396 human ensembl 70_37 +1 known missense c.2807 p.S936Y 1.000 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC KIAA0947 23379 genome.wustl.edu 37 5 5476114 5476114 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 5476114 5476114 T C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.6442 p.W2148R 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIF13B 23303 genome.wustl.edu 37 8 28932813 28932813 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 28932813 28932813 C T SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known silent c.4506 p.V1502 0.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC LOC440518 440518 genome.wustl.edu 37 19 22785250 22785250 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 22785250 22785250 G A SNP LOC440518 ENST00000600260 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors CTC-457E21.3 Clone_based_vega_gene LOXHD1 125336 genome.wustl.edu 37 18 44121822 44121822 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 18 44121822 44121822 C T SNP LOXHD1 ENST00000536736 human ensembl 70_37 -1 known missense c.3830 p.R1277H 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC LRIG2 9860 genome.wustl.edu 37 1 113657099 113657099 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 113657099 113657099 G A SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known missense c.2131 p.E711K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC LRP1B 53353 genome.wustl.edu 37 2 141092125 141092125 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 141092125 141092125 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.12120 p.M4040I 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRRFIP1 9208 genome.wustl.edu 37 2 238657916 238657916 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 238657916 238657916 C T SNP LRRFIP1 ENST00000392000 human ensembl 70_37 +1 known silent c.360 p.S120 0.159 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC LRWD1 222229 genome.wustl.edu 37 7 102108530 102108530 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 102108530 102108530 C T SNP LRWD1 ENST00000292616 human ensembl 70_37 +1 known missense c.700 p.R234W 0.149 NULL pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC MAGEB3 4114 genome.wustl.edu 37 X 30254216 30254216 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 30254216 30254216 C T SNP MAGEB3 ENST00000361644 human ensembl 70_37 +1 known missense c.175 p.R59C 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC MAGEC3 139081 genome.wustl.edu 37 X 140984709 140984709 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 140984709 140984709 C T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known nonsense c.1165 p.Q389* 0.035 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MCM10 55388 genome.wustl.edu 37 10 13234490 13234490 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 13234490 13234490 C T SNP MCM10 ENST00000361282 human ensembl 70_37 +1 known missense c.1670 p.S557L 1.000 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC MIR301A 407027 genome.wustl.edu 37 17 57228532 57228532 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 57228532 57228532 G A SNP MIR301A ENST00000385261 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR301A HGNC KMT2C 58508 genome.wustl.edu 37 7 151877154 151877154 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 151877154 151877154 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.7207 p.R2403* 0.967 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MMP3 4314 genome.wustl.edu 37 11 102709885 102709885 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 102709885 102709885 G A SNP MMP3 ENST00000299855 human ensembl 70_37 -1 known missense c.1025 p.A342V 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP3 HGNC MOV10 4343 genome.wustl.edu 37 1 113217534 113217534 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 113217534 113217534 G A SNP MOV10 ENST00000461226 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MOV10 HGNC MST1R 4486 genome.wustl.edu 37 3 49939856 49939856 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 49939856 49939856 C T SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.1187 p.R396Q 0.736 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC MT-CO1 4512 genome.wustl.edu 37 MT 7156 7156 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 MT 7156 7156 T C SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.1253 p.F418S NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MUC12 10071 genome.wustl.edu 37 7 100661892 100661892 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 100661892 100661892 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.16412 p.P5471L 0.144 NULL pfam_SEA - no_errors MUC12 HGNC MUC4 4585 genome.wustl.edu 37 3 195509987 195509987 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 195509987 195509987 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8464 p.A2822T 0.873 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195510853 195510853 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 195510853 195510853 T C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7598 p.N2533S 0.393 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC5AC 4586 genome.wustl.edu 37 11 1215458 1215458 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 1215458 1215458 G A SNP MUC5AC ENST00000358378 human ensembl 70_37 +1 putative rna NULL NULL 0.096 - - - no_errors MUC5AC HGNC MUC5B 727897 genome.wustl.edu 37 11 1267515 1267515 + Silent SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 1267515 1267515 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.9414 p.L3138 0.001 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 MYF6 4618 genome.wustl.edu 37 12 81101604 81101604 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 81101604 81101604 G A SNP MYF6 ENST00000228641 human ensembl 70_37 +1 known missense c.106 p.G36R 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF6 HGNC MYO15A 51168 genome.wustl.edu 37 17 18023258 18023258 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 18023258 18023258 G A SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.1144 p.E382K 0.655 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYO3B 140469 genome.wustl.edu 37 2 171258178 171258178 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 171258178 171258178 C T SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known silent c.2133 p.L711 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC NEB 4703 genome.wustl.edu 37 2 152409245 152409245 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 152409245 152409245 G T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.19777 p.L6593I 0.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEIL3 55247 genome.wustl.edu 37 4 178274470 178274470 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 178274470 178274470 C A SNP NEIL3 ENST00000264596 human ensembl 70_37 +1 known missense c.1048 p.L350I 0.000 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC NFYC 4802 genome.wustl.edu 37 1 41236471 41236471 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 41236471 41236471 G A SNP NFYC ENST00000308733 human ensembl 70_37 +1 known missense c.1348 p.G450R 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC NOP58 51602 genome.wustl.edu 37 2 203149076 203149076 + Silent SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 203149076 203149076 G A SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known silent c.306 p.L102 1.000 NULL pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC NOTCH3 4854 genome.wustl.edu 37 19 15299118 15299118 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 15299118 15299118 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known nonsense c.1420 p.Q474* 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NRG2 9542 genome.wustl.edu 37 5 139422565 139422567 + In_Frame_Del DEL GCT GCT - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 139422565 139422567 GCT - DEL NRG2 ENST00000545385 human ensembl 70_37 -1 known in_frame_del c.90_88 p.S30in_frame_del 0.962:0.973:0.994 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like - no_errors NRG2 HGNC NRK 203447 genome.wustl.edu 37 X 105193672 105193672 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 105193672 105193672 G A SNP NRK ENST00000428173 human ensembl 70_37 +1 known missense c.4462 p.E1488K 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC NXF5 55998 genome.wustl.edu 37 X 101095505 101095505 + Missense_Mutation SNP A A G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 101095505 101095505 A G SNP NXF5 ENST00000263032 human ensembl 70_37 -1 known missense c.664 p.C222R 0.998 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC OR8U1 219417 genome.wustl.edu 37 11 56143873 56143873 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 56143873 56143873 G C SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.774 p.M258I 0.762 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC PALM2-AKAP2 445815 genome.wustl.edu 37 9 112900327 112900327 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 112900327 112900327 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known missense c.2503 p.E835K 0.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC PBX3 5090 genome.wustl.edu 37 9 128678118 128678118 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 128678118 128678118 C T SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.428 p.S143L 1.000 pfam_PBX pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC PCDHA11 56138 genome.wustl.edu 37 5 140249735 140249735 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 140249735 140249735 C T SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known silent c.1047 p.V349 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC PDE1C 5137 genome.wustl.edu 37 7 31920462 31920462 + Missense_Mutation SNP A A G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 31920462 31920462 A G SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known missense c.140 p.L47S 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC PKD1 5310 genome.wustl.edu 37 16 2168727 2168727 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 2168727 2168727 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.479 p.S160F 0.245 smart_Cys-rich_flank_reg_C,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,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_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PLCL1 5334 genome.wustl.edu 37 2 198966046 198966047 + Frame_Shift_Del DEL AC AC - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 198966046 198966047 AC - DEL PLCL1 ENST00000428675 human ensembl 70_37 +1 known frame_shift_del c.2957_2958 p.T987fs 1.000:0.999 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC PNLDC1 154197 genome.wustl.edu 37 6 160240375 160240375 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 160240375 160240375 G T SNP PNLDC1 ENST00000275275 human ensembl 70_37 +1 known missense c.1490 p.C497F 0.563 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC PROSC 11212 genome.wustl.edu 37 8 37633451 37633451 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 37633451 37633451 C T SNP PROSC ENST00000328195 human ensembl 70_37 +1 known missense c.613 p.R205W 1.000 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC PRRC2A 7916 genome.wustl.edu 37 6 31605302 31605302 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 31605302 31605302 G A SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.6413 p.R2138Q 0.410 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PSD4 23550 genome.wustl.edu 37 2 113943595 113943595 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 113943595 113943595 C T SNP PSD4 ENST00000245796 human ensembl 70_37 +1 known missense c.1391 p.S464L 0.009 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PVRL1 5818 genome.wustl.edu 37 11 119548547 119548547 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 119548547 119548547 C A SNP PVRL1 ENST00000264025 human ensembl 70_37 -1 known nonsense c.451 p.E151* 1.000 pfam_CD80_C2-set pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL1 HGNC PWP1 11137 genome.wustl.edu 37 12 108086770 108086770 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 108086770 108086770 C G SNP PWP1 ENST00000552760 human ensembl 70_37 +1 known missense c.427 p.H143D 0.000 NULL NULL - no_errors PWP1 HGNC RAX 30062 genome.wustl.edu 37 18 56936292 56936292 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 18 56936292 56936292 G A SNP RAX ENST00000334889 human ensembl 70_37 -1 known missense c.985 p.R329C 1.000 pfam_OAR_dom,pfscan_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors RAX HGNC RBM46 166863 genome.wustl.edu 37 4 155718042 155718042 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 155718042 155718042 C T SNP RBM46 ENST00000281722 human ensembl 70_37 +1 known silent c.138 p.G46 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC RET 5979 genome.wustl.edu 37 10 43617418 43617418 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 43617418 43617418 G T SNP RET ENST00000355710 human ensembl 70_37 +1 known missense c.2755 p.A919S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RET HGNC RGS19 10287 genome.wustl.edu 37 20 62705529 62705529 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 20 62705529 62705529 C A SNP RGS19 ENST00000332298 human ensembl 70_37 -1 known nonsense c.430 p.E144* 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS19 HGNC RRP1 8568 genome.wustl.edu 37 21 45215091 45215091 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 21 45215091 45215091 G A SNP RRP1 ENST00000497547 human ensembl 70_37 +1 known missense c.382 p.E128K 0.993 pfam_Nop52 pfam_Nop52 - no_errors RRP1 HGNC SEC16A 9919 genome.wustl.edu 37 9 139357483 139357483 + Silent SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 139357483 139357483 C A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known silent c.4749 p.T1583 0.006 NULL NULL - no_errors SEC16A HGNC SEC31A 22872 genome.wustl.edu 37 4 83793119 83793119 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 83793119 83793119 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.760 p.R254C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC SERPINA9 327657 genome.wustl.edu 37 14 94936056 94936056 + Nonsense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 94936056 94936056 G T SNP SERPINA9 ENST00000538527 human ensembl 70_37 -1 known nonsense c.258 p.C86* 0.001 NULL NULL - no_errors SERPINA9 HGNC SHISA5 51246 genome.wustl.edu 37 3 48538599 48538599 + Silent SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 48538599 48538599 G A SNP SHISA5 ENST00000296444 human ensembl 70_37 -1 known silent c.204 p.S68 0.000 NULL NULL - no_errors SHISA5 HGNC SHOC2 8036 genome.wustl.edu 37 10 112724609 112724609 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 112724609 112724609 C T SNP SHOC2 ENST00000369452 human ensembl 70_37 +1 known missense c.493 p.L165F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC SI 6476 genome.wustl.edu 37 3 164700184 164700184 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 164700184 164700184 G T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.5262 p.S1754R 0.964 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SLC12A3 6559 genome.wustl.edu 37 16 56906600 56906600 + Missense_Mutation SNP T T A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 56906600 56906600 T A SNP SLC12A3 ENST00000438926 human ensembl 70_37 +1 known missense c.997 p.W333R 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC SLC26A8 116369 genome.wustl.edu 37 6 35911729 35911729 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 35911729 35911729 C T SNP SLC26A8 ENST00000355574 human ensembl 70_37 -1 known missense c.2861 p.R954H 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC SLC2A8 29988 genome.wustl.edu 37 9 130167088 130167088 + RNA SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 130167088 130167088 C T SNP SLC2A8 ENST00000485806 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC2A8 HGNC SLC34A3 142680 genome.wustl.edu 37 9 140128658 140128658 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 140128658 140128658 C T SNP SLC34A3 ENST00000361134 human ensembl 70_37 +1 known silent c.1023 p.L341 0.998 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC SLC6A9 6536 genome.wustl.edu 37 1 44467157 44467157 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 44467157 44467157 C T SNP SLC6A9 ENST00000360584 human ensembl 70_37 -1 known missense c.1324 p.V442M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC SLC7A1 6541 genome.wustl.edu 37 13 30090363 30090363 + Silent SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 13 30090363 30090363 G T SNP SLC7A1 ENST00000380752 human ensembl 70_37 -1 known silent c.1698 p.L566 0.028 pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC SPRED2 200734 genome.wustl.edu 37 2 65571869 65571869 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 65571869 65571869 C T SNP SPRED2 ENST00000356388 human ensembl 70_37 -1 known missense c.188 p.R63Q 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED2 HGNC SPTBN4 57731 genome.wustl.edu 37 19 41019436 41019436 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 41019436 41019436 G A SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known missense c.2740 p.D914N 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC SPTBN5 51332 genome.wustl.edu 37 15 42149153 42149153 + Silent SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 15 42149153 42149153 G T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.8706 p.A2902 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SSPO 23145 genome.wustl.edu 37 7 149513092 149513092 + RNA SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 149513092 149513092 G T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC SULT1C2P1 151234 genome.wustl.edu 37 2 108938842 108938842 + RNA SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 108938842 108938842 T C SNP SULT1C2P1 ENST00000427208 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SULT1C2P1 HGNC TACC1 6867 genome.wustl.edu 37 8 38677586 38677586 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 38677586 38677586 C G SNP TACC1 ENST00000379931 human ensembl 70_37 +1 known missense c.824 p.T275R 0.000 NULL pfam_TACC - no_errors TACC1 HGNC TESK2 10420 genome.wustl.edu 37 1 45809610 45809610 + RNA DEL A A - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 45809610 45809610 A - DEL TESK2 ENST00000486676 human ensembl 70_37 -1 known rna NULL NULL 0.794 - - - no_errors TESK2 HGNC TEX15 56154 genome.wustl.edu 37 8 30705231 30705231 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 30705231 30705231 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1303 p.E435Q 0.000 NULL NULL - no_errors TEX15 HGNC TKT 7086 genome.wustl.edu 37 3 53269050 53269050 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 53269050 53269050 G T SNP TKT ENST00000423525 human ensembl 70_37 -1 known missense c.578 p.A193D 0.925 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC TMC7 79905 genome.wustl.edu 37 16 19070741 19070741 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 19070741 19070741 C T SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known silent c.2031 p.L677 0.031 NULL pfam_TMC - no_errors TMC7 HGNC TMEM254 80195 genome.wustl.edu 37 10 81841421 81841422 + RNA INS - - AA TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 81841421 81841422 - AA INS TMEM254 ENST00000463029 human ensembl 70_37 +1 known rna NULL NULL 0.039:0.038 - - - no_errors TMEM254 HGNC TMEM55B 90809 genome.wustl.edu 37 14 20927568 20927568 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 20927568 20927568 C A SNP TMEM55B ENST00000398020 human ensembl 70_37 -1 known missense c.599 p.R200L 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55B HGNC TMF1 7110 genome.wustl.edu 37 3 69101209 69101209 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 69101209 69101209 G C SNP TMF1 ENST00000543976 human ensembl 70_37 -1 known missense c.29 p.S10C 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC TRIM61 391712 genome.wustl.edu 37 4 165890861 165890861 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 165890861 165890861 C G SNP TRIM61 ENST00000329314 human ensembl 70_37 -1 known missense c.294 p.K98N 0.833 pfam_Znf_B-box,pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC TRPC1 7220 genome.wustl.edu 37 3 142522838 142522838 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 142522838 142522838 G T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.1777 p.A593S 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC TTC28 23331 genome.wustl.edu 37 22 28504220 28504220 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 22 28504220 28504220 C T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel missense c.1613 p.R538Q 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC UNC93B1 81622 genome.wustl.edu 37 11 67759287 67759287 + Silent SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 67759287 67759287 C A SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known silent c.1521 p.A507 0.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC UTRN 7402 genome.wustl.edu 37 6 145079201 145079201 + RNA SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 145079201 145079201 C A SNP UTRN ENST00000480333 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UTRN HGNC VPS52 6293 genome.wustl.edu 37 6 33232075 33232075 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 33232075 33232075 G A SNP VPS52 ENST00000493674 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors VPS52 HGNC VWA5A 4013 genome.wustl.edu 37 11 123993733 123993733 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 123993733 123993733 C T SNP VWA5A ENST00000392748 human ensembl 70_37 +1 known missense c.827 p.S276L 0.026 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC WAC 51322 genome.wustl.edu 37 10 28899712 28899712 + Frame_Shift_Del DEL C C - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 28899712 28899712 C - DEL WAC ENST00000354911 human ensembl 70_37 +1 known frame_shift_del c.1250 p.T417fs 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ZC3H18 124245 genome.wustl.edu 37 16 88666221 88666221 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 88666221 88666221 G A SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known missense c.953 p.R318Q 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ZNF248 57209 genome.wustl.edu 37 10 38121767 38121767 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 38121767 38121767 C T SNP ZNF248 ENST00000357328 human ensembl 70_37 -1 known silent c.516 p.E172 0.993 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ZNF384 171017 genome.wustl.edu 37 12 6787340 6787340 + Silent SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 6787340 6787340 G T SNP ZNF384 ENST00000361959 human ensembl 70_37 -1 known silent c.639 p.L213 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ZNF546 339327 genome.wustl.edu 37 19 40520585 40520585 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 40520585 40520585 G C SNP ZNF546 ENST00000347077 human ensembl 70_37 +1 known missense c.1408 p.E470Q 0.945 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ZNF599 148103 genome.wustl.edu 37 19 35250451 35250451 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 35250451 35250451 C T SNP ZNF599 ENST00000329285 human ensembl 70_37 -1 known missense c.1255 p.G419R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ZXDA 7789 genome.wustl.edu 37 X 57936104 57936104 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 57936104 57936104 C T SNP ZXDA ENST00000358697 human ensembl 70_37 -1 known missense c.751 p.A251T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ZXDB 158586 genome.wustl.edu 37 X 57620522 57620522 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 57620522 57620522 T C SNP ZXDB ENST00000374888 human ensembl 70_37 +1 known missense c.2041 p.F681L 0.954 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC