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 ABCB5 340273 genome.wustl.edu 37 7 20766758 20766758 + Missense_Mutation SNP A A C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 20766758 20766758 A C SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known missense c.1386 p.Q462H 0.969 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ACOT7 11332 genome.wustl.edu 37 1 6399596 6399596 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 6399596 6399596 G A SNP ACOT7 ENST00000377855 human ensembl 70_37 -1 known silent c.345 p.P115 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors ACOT7 HGNC ADCY8 114 genome.wustl.edu 37 8 131861929 131861929 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 131861929 131861929 C G SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known missense c.2331 p.W777C 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC AGFG1 3267 genome.wustl.edu 37 2 228401373 228401373 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 228401373 228401373 C G SNP AGFG1 ENST00000409979 human ensembl 70_37 +1 known missense c.1310 p.S437C 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105420437 105420437 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 105420437 105420437 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.1351 p.E451K 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AK7 122481 genome.wustl.edu 37 14 96944861 96944861 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 96944861 96944861 C A SNP AK7 ENST00000267584 human ensembl 70_37 +1 known missense c.1615 p.P539T 0.999 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ALDH1A1 216 genome.wustl.edu 37 9 75545857 75545857 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 75545857 75545857 C T SNP ALDH1A1 ENST00000297785 human ensembl 70_37 -1 known missense c.250 p.E84K 0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ALDH9A1 223 genome.wustl.edu 37 1 165651451 165651451 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 165651451 165651451 G A SNP ALDH9A1 ENST00000354775 human ensembl 70_37 -1 known missense c.485 p.S162L 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ANKAR 150709 genome.wustl.edu 37 2 190592600 190592600 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 190592600 190592600 C G SNP ANKAR ENST00000313581 human ensembl 70_37 +1 known missense c.2654 p.S885C 0.909 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ANKDD1A 348094 genome.wustl.edu 37 15 65204164 65204164 + Splice_Site SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 65204164 65204164 G A SNP ANKDD1A ENST00000380230 human ensembl 70_37 +1 known splice_site c.34+1 e1+1 0.122 - - - no_errors ANKDD1A HGNC AP1AR 55435 genome.wustl.edu 37 4 113184201 113184201 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 113184201 113184201 C T SNP AP1AR ENST00000274000 human ensembl 70_37 +1 known missense c.340 p.R114C 1.000 NULL NULL - no_errors AP1AR HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47611012 47611012 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 47611012 47611012 G A SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.2998 p.E1000K 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARHGAP31 57514 genome.wustl.edu 37 3 119133187 119133187 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 119133187 119133187 C T SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.2411 p.P804L 0.012 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ARHGAP40 343578 genome.wustl.edu 37 20 37278408 37278408 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 37278408 37278408 C G SNP ARHGAP40 ENST00000373345 human ensembl 70_37 +1 known missense c.1786 p.R596G 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ARMC4 55130 genome.wustl.edu 37 10 28273115 28273115 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 28273115 28273115 G C SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known nonsense c.680 p.S227* 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ART5 116969 genome.wustl.edu 37 11 3663063 3663063 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 3663063 3663063 G A SNP ART5 ENST00000359918 human ensembl 70_37 -1 known silent c.30 p.L10 0.238 NULL pfam_ART,prints_ART - no_errors ART5 HGNC ASB17 127247 genome.wustl.edu 37 1 76384652 76384652 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 76384652 76384652 C T SNP ASB17 ENST00000284142 human ensembl 70_37 -1 known silent c.873 p.L291 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ATG2B 55102 genome.wustl.edu 37 14 96777609 96777609 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 96777609 96777609 C G SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.4006 p.E1336Q 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ATG9A 79065 genome.wustl.edu 37 2 220088626 220088626 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 220088626 220088626 G A SNP ATG9A ENST00000361242 human ensembl 70_37 -1 known missense c.1384 p.R462W 1.000 pfam_Autophagy-rel_prot_9 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ATP6V0A2 23545 genome.wustl.edu 37 12 124228764 124228764 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 124228764 124228764 C T SNP ATP6V0A2 ENST00000330342 human ensembl 70_37 +1 known silent c.1206 p.I402 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A2 HGNC BAI3 577 genome.wustl.edu 37 6 70037774 70037774 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 70037774 70037774 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3028 p.D1010N 0.988 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC BICD2 23299 genome.wustl.edu 37 9 95477650 95477650 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 95477650 95477650 G A SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.2354 p.A785V 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC BICD2 23299 genome.wustl.edu 37 9 95481751 95481751 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 95481751 95481751 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known silent c.1176 p.E392 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC BMPER 168667 genome.wustl.edu 37 7 34125571 34125571 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 34125571 34125571 C T SNP BMPER ENST00000297161 human ensembl 70_37 +1 known nonsense c.1612 p.Q538* 0.958 NULL pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC BZRAP1 9256 genome.wustl.edu 37 17 56399684 56399684 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 56399684 56399684 G A SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known silent c.1407 p.V469 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC C16orf59 80178 genome.wustl.edu 37 16 2514077 2514077 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 2514077 2514077 G A SNP C16orf59 ENST00000361837 human ensembl 70_37 +1 known silent c.1002 p.G334 0.000 NULL NULL - no_errors C16orf59 HGNC C16orf96 342346 genome.wustl.edu 37 16 4641742 4641742 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 4641742 4641742 G C SNP C16orf96 ENST00000444310 human ensembl 70_37 +1 known missense c.2668 p.E890Q 0.144 NULL NULL - no_errors C16orf96 HGNC C1orf122 127687 genome.wustl.edu 37 1 38274657 38274657 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 38274657 38274657 C T SNP C1orf122 ENST00000446260 human ensembl 70_37 +1 known nonsense c.331 p.Q111* 1.000 NULL NULL - no_errors C1orf122 HGNC C1orf122 127687 genome.wustl.edu 37 1 38274837 38274837 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 38274837 38274837 C T SNP C1orf122 ENST00000525096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors C1orf122 HGNC C1orf159 54991 genome.wustl.edu 37 1 1019451 1019451 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 1019451 1019451 C T SNP C1orf159 ENST00000379339 human ensembl 70_37 -1 known missense c.892 p.E298K 0.000 NULL NULL - no_errors C1orf159 HGNC MGME1 92667 genome.wustl.edu 37 20 17956539 17956539 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 17956539 17956539 G C SNP C20orf72 ENST00000377710 human ensembl 70_37 +1 known missense c.724 p.E242Q 0.992 superfamily_Restrct_endonuc-II-like superfamily_Restrct_endonuc-II-like - no_errors C20orf72 HGNC C2orf42 54980 genome.wustl.edu 37 2 70408572 70408572 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 70408572 70408572 C T SNP C2orf42 ENST00000264434 human ensembl 70_37 -1 known silent c.546 p.Q182 1.000 NULL NULL - no_errors C2orf42 HGNC C2orf68 388969 genome.wustl.edu 37 2 85838793 85838793 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 85838793 85838793 C T SNP C2orf68 ENST00000306336 human ensembl 70_37 -1 known missense c.224 p.R75Q 1.000 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC C9orf171 389799 genome.wustl.edu 37 9 135357739 135357739 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 135357739 135357739 G C SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known missense c.238 p.D80H 0.000 NULL NULL - no_errors C9orf171 HGNC C9orf66 157983 genome.wustl.edu 37 9 214656 214656 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 214656 214656 C T SNP C9orf66 ENST00000382387 human ensembl 70_37 -1 known silent c.741 p.P247 0.002 NULL NULL - no_errors C9orf66 HGNC CALR 811 genome.wustl.edu 37 19 13049556 13049556 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 13049556 13049556 C G SNP CALR ENST00000316448 human ensembl 70_37 +1 known silent c.63 p.V21 0.762 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR HGNC CAPS 828 genome.wustl.edu 37 19 5914740 5914740 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 5914740 5914740 C T SNP CAPS ENST00000222125 human ensembl 70_37 +1 known missense c.250 p.R84W 0.124 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CAPS HGNC CASZ1 54897 genome.wustl.edu 37 1 10713654 10713654 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 10713654 10713654 G A SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.2460 p.L820 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC CCDC108 255101 genome.wustl.edu 37 2 219870775 219870775 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 219870775 219870775 G C SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.4890 p.F1630L 1.000 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC CCNJ 54619 genome.wustl.edu 37 10 97816696 97816696 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 97816696 97816696 G A SNP CCNJ ENST00000419934 human ensembl 70_37 +1 known silent c.519 p.L173 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC CCPG1 9236 genome.wustl.edu 37 15 55669316 55669316 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 55669316 55669316 G A SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known silent c.285 p.I95 0.998 NULL NULL - no_errors CCPG1 HGNC CD27 939 genome.wustl.edu 37 12 6559377 6559377 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 6559377 6559377 G C SNP CD27 ENST00000266557 human ensembl 70_37 +1 known missense c.307 p.E103Q 0.053 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC CDADC1 81602 genome.wustl.edu 37 13 49822118 49822118 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 49822118 49822118 G C SNP CDADC1 ENST00000466868 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDADC1 HGNC CELSR2 1952 genome.wustl.edu 37 1 109795251 109795251 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 109795251 109795251 C G SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known silent c.2550 p.V850 0.880 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CHD7 55636 genome.wustl.edu 37 8 61654065 61654065 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 61654065 61654065 G A SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.74 p.G25E 0.998 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHRM3 1131 genome.wustl.edu 37 1 240071000 240071000 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 240071000 240071000 C G SNP CHRM3 ENST00000255380 human ensembl 70_37 +1 known missense c.249 p.I83M 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC CHRM3 1131 genome.wustl.edu 37 1 240072373 240072373 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 240072373 240072373 C A SNP CHRM3 ENST00000255380 human ensembl 70_37 +1 known missense c.1622 p.P541H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC CHST10 9486 genome.wustl.edu 37 2 101009777 101009777 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 101009777 101009777 C T SNP CHST10 ENST00000542617 human ensembl 70_37 -1 known missense c.1145 p.R382H 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST10 HGNC CLSTN1 22883 genome.wustl.edu 37 1 9794074 9794074 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 9794074 9794074 T C SNP CLSTN1 ENST00000377298 human ensembl 70_37 -1 known missense c.2237 p.K746R 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC CMC2 56942 genome.wustl.edu 37 16 81031011 81031011 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 81031011 81031011 G A SNP CMC2 ENST00000562828 human ensembl 70_37 -1 putative rna NULL NULL 0.090 - - - no_errors CMC2 HGNC CNTF 1270 genome.wustl.edu 37 11 58391849 58391849 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 58391849 58391849 G C SNP CNTF ENST00000361987 human ensembl 70_37 +1 known missense c.457 p.E153Q 1.000 pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CNTF HGNC CNTNAP2 26047 genome.wustl.edu 37 7 147844582 147844582 + Splice_Site SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 147844582 147844582 G A SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known splice_site c.2555-1 e17-1 1.000 - - - no_errors CNTNAP2 HGNC COL6A3 1293 genome.wustl.edu 37 2 238275692 238275692 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 238275692 238275692 C T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.5138 p.G1713E 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC CPNE6 9362 genome.wustl.edu 37 14 24545487 24545487 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 24545487 24545487 G C SNP CPNE6 ENST00000537691 human ensembl 70_37 +1 known missense c.1219 p.D407H 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE6 HGNC CSNK1G2 1455 genome.wustl.edu 37 19 1979936 1979936 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 1979936 1979936 G A SNP CSNK1G2 ENST00000255641 human ensembl 70_37 +1 known silent c.1113 p.L371 1.000 pfam_Casein_kinase-1_gamma_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1G2 HGNC CSPP1 79848 genome.wustl.edu 37 8 68102956 68102956 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 68102956 68102956 C T SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known missense c.3277 p.R1093W 0.879 NULL NULL - no_errors CSPP1 HGNC CUBN 8029 genome.wustl.edu 37 10 16981092 16981092 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 16981092 16981092 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known nonsense c.5603 p.W1868* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC CXorf67 340602 genome.wustl.edu 37 X 51150670 51150670 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 51150670 51150670 C T SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known missense c.802 p.R268C 0.000 NULL NULL - no_errors CXorf67 HGNC CYB5R2 51700 genome.wustl.edu 37 11 7686762 7686762 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 7686762 7686762 G A SNP CYB5R2 ENST00000299498 human ensembl 70_37 -1 known missense c.674 p.S225L 0.198 pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC CYBB 1536 genome.wustl.edu 37 X 37668873 37668873 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 37668873 37668873 G A SNP CYBB ENST00000378588 human ensembl 70_37 +1 known silent c.1515 p.L505 0.986 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC CYFIP1 23191 genome.wustl.edu 37 15 22990104 22990104 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 22990104 22990104 C T SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known silent c.2724 p.F908 0.906 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC DAG1 1605 genome.wustl.edu 37 3 49569062 49569062 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 49569062 49569062 G A SNP DAG1 ENST00000308775 human ensembl 70_37 +1 known missense c.1118 p.R373Q 0.989 NULL pfam_DAG1,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC DCDC2B 149069 genome.wustl.edu 37 1 32681106 32681106 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 32681106 32681106 G C SNP DCDC2B ENST00000409358 human ensembl 70_37 +1 known missense c.916 p.D306H 0.994 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2B HGNC DDX11 1663 genome.wustl.edu 37 12 31237918 31237918 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 31237918 31237918 G A SNP DDX11 ENST00000407793 human ensembl 70_37 +1 known missense c.496 p.E166K 0.982 smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC DDX41 51428 genome.wustl.edu 37 5 176939844 176939844 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 176939844 176939844 C T SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known missense c.1336 p.D446N 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC DESI2 51029 genome.wustl.edu 37 1 244869026 244869026 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 244869026 244869026 G A SNP DESI2 ENST00000302550 human ensembl 70_37 +1 known missense c.520 p.A174T 0.998 NULL pfam_DUF862_euk - no_errors DESI2 HGNC DIDO1 11083 genome.wustl.edu 37 20 61512312 61512312 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 61512312 61512312 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.4996 p.G1666S 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC DIP2A 23181 genome.wustl.edu 37 21 47975972 47975972 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 21 47975972 47975972 G A SNP DIP2A ENST00000318711 human ensembl 70_37 +1 known missense c.3469 p.V1157M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC DNAH10 196385 genome.wustl.edu 37 12 124267767 124267767 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 124267767 124267767 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known nonsense c.772 p.Q258* 0.986 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNLZ 728489 genome.wustl.edu 37 9 139257548 139257548 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 139257548 139257548 G C SNP DNLZ ENST00000371738 human ensembl 70_37 -1 known silent c.261 p.S87 1.000 pfam_Znf_DNL-typ pfam_Znf_DNL-typ - no_errors DNLZ HGNC DOCK4 9732 genome.wustl.edu 37 7 111449381 111449381 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 111449381 111449381 G A SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known missense c.3083 p.S1028F 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC DST 667 genome.wustl.edu 37 6 56471441 56471441 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 56471441 56471441 G C SNP DST ENST00000370754 human ensembl 70_37 -1 known nonsense c.7886 p.S2629* 0.001 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DTNA 1837 genome.wustl.edu 37 18 32374109 32374109 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 32374109 32374109 C G SNP DTNA ENST00000269190 human ensembl 70_37 +1 known missense c.257 p.S86C 1.000 pfam_EF-hand_dom_typ1,pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC DYNLL1 8655 genome.wustl.edu 37 12 120934235 120934235 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 120934235 120934235 G A SNP DYNLL1 ENST00000242577 human ensembl 70_37 +1 known missense c.11 p.R4Q 1.000 pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2 pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2 - no_errors DYNLL1 HGNC DZIP3 9666 genome.wustl.edu 37 3 108366903 108366903 + Missense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 108366903 108366903 G T SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.1906 p.D636Y 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ECI2 10455 genome.wustl.edu 37 6 4128056 4128056 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 4128056 4128056 C G SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known missense c.511 p.E171Q 0.997 pfam_Crotonase_core pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ECM1 1893 genome.wustl.edu 37 1 150482469 150482469 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 150482469 150482469 G A SNP ECM1 ENST00000369049 human ensembl 70_37 +1 known missense c.376 p.E126K 0.000 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC EEF2K 29904 genome.wustl.edu 37 16 22237288 22237288 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 22237288 22237288 C T SNP EEF2K ENST00000263026 human ensembl 70_37 +1 known missense c.238 p.H80Y 0.996 superfamily_Kinase-like_dom,pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC EGR4 1961 genome.wustl.edu 37 2 73520479 73520479 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 73520479 73520479 C T SNP EGR4 ENST00000545030 human ensembl 70_37 -1 known silent c.276 p.A92 0.331 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC EIF4B 1975 genome.wustl.edu 37 12 53431271 53431271 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 53431271 53431271 C G SNP EIF4B ENST00000262056 human ensembl 70_37 +1 known missense c.1385 p.S462C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC EML6 400954 genome.wustl.edu 37 2 55130286 55130286 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 55130286 55130286 C G SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.3230 p.S1077C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENAH 55740 genome.wustl.edu 37 1 225707234 225707234 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 225707234 225707234 C T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known silent c.468 p.L156 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000197604 0 genome.wustl.edu 37 10 72195234 72195234 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 72195234 72195234 C T SNP ENSG00000197604 ENST00000420338 human ensembl 70_37 +1 known missense c.181 p.L61F 0.988 NULL NULL - no_errors AC022532.1 Clone_based_ensembl_gene ENSG00000225261 0 genome.wustl.edu 37 X 148629903 148629903 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 148629903 148629903 C G SNP ENSG00000225261 ENST00000431993 human ensembl 70_37 -1 known rna NULL NULL 0.070 - - - no_errors RP5-937E21.8 Clone_based_vega_gene ENSG00000226668 0 genome.wustl.edu 37 9 95644873 95644873 + RNA SNP A A T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 95644873 95644873 A T SNP ENSG00000226668 ENST00000411450 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000254893 0 genome.wustl.edu 37 5 75469560 75469560 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 75469560 75469560 G C SNP ENSG00000254893 ENST00000527880 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-466P24.2 Clone_based_vega_gene ENSG00000255843 0 genome.wustl.edu 37 11 72013338 72013338 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 72013338 72013338 C T SNP ENSG00000255843 ENST00000546065 human ensembl 70_37 +1 known rna NULL NULL 0.636 - - - no_errors AP000593.7 Clone_based_vega_gene ENSG00000265263 0 genome.wustl.edu 37 17 19238692 19238692 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 19238692 19238692 C G SNP ENSG00000265263 ENST00000581122 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-135L13.4 Clone_based_vega_gene EPB41L3 23136 genome.wustl.edu 37 18 5394771 5394771 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 5394771 5394771 C G SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known missense c.3175 p.E1059Q 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L3 HGNC ERCC4 2072 genome.wustl.edu 37 16 14041676 14041676 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 14041676 14041676 C G SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known silent c.2223 p.L741 0.109 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain,tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ERGIC1 57222 genome.wustl.edu 37 5 172341859 172341859 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 172341859 172341859 C T SNP ERGIC1 ENST00000326654 human ensembl 70_37 +1 putative silent c.258 p.L86 0.000 NULL NULL - no_errors ERGIC1 HGNC FAM154B 283726 genome.wustl.edu 37 15 82574786 82574786 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 82574786 82574786 G C SNP FAM154B ENST00000339465 human ensembl 70_37 +1 known missense c.580 p.E194Q 0.517 NULL NULL - no_errors FAM154B HGNC FAM198A 729085 genome.wustl.edu 37 3 43074915 43074915 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 43074915 43074915 C G SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known missense c.1160 p.S387C 1.000 NULL NULL - no_errors FAM198A HGNC FAM205A 259308 genome.wustl.edu 37 9 34724748 34724748 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 34724748 34724748 G A SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.2489 p.S830L 0.000 NULL NULL - no_errors FAM205A HGNC FBXO42 54455 genome.wustl.edu 37 1 16577965 16577965 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 16577965 16577965 C G SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.1354 p.G452R 0.810 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC FCRLB 127943 genome.wustl.edu 37 1 161697042 161697042 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 161697042 161697042 C A SNP FCRLB ENST00000367948 human ensembl 70_37 +1 known missense c.871 p.P291T 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors FCRLB HGNC FEM1A 55527 genome.wustl.edu 37 19 4792590 4792590 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 4792590 4792590 G C SNP FEM1A ENST00000269856 human ensembl 70_37 +1 known missense c.724 p.E242Q 0.362 smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC FEZ1 9638 genome.wustl.edu 37 11 125333410 125333410 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 125333410 125333410 G C SNP FEZ1 ENST00000278919 human ensembl 70_37 -1 known missense c.468 p.I156M 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC FLII 2314 genome.wustl.edu 37 17 18160237 18160237 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 18160237 18160237 C T SNP FLII ENST00000327031 human ensembl 70_37 -1 known missense c.160 p.A54T 0.531 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC FOXA2 3170 genome.wustl.edu 37 20 22563211 22563211 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 22563211 22563211 G A SNP FOXA2 ENST00000319993 human ensembl 70_37 -1 known silent c.669 p.F223 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC FOXG1 2290 genome.wustl.edu 37 14 29237007 29237007 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 29237007 29237007 G A SNP FOXG1 ENST00000313071 human ensembl 70_37 +1 known silent c.522 p.K174 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC FRMPD2 143162 genome.wustl.edu 37 10 49392824 49392824 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 49392824 49392824 G C SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2460 p.I820M 0.997 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC GAK 2580 genome.wustl.edu 37 4 887749 887749 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 887749 887749 C T SNP GAK ENST00000314167 human ensembl 70_37 -1 known missense c.790 p.E264K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC GALM 130589 genome.wustl.edu 37 2 38893461 38893461 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 38893461 38893461 C G SNP GALM ENST00000272252 human ensembl 70_37 +1 known missense c.158 p.S53W 1.000 pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd - no_errors GALM HGNC GAS2 2620 genome.wustl.edu 37 11 22770758 22770758 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 22770758 22770758 C T SNP GAS2 ENST00000278187 human ensembl 70_37 +1 known missense c.566 p.S189L 0.986 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC GCC1 79571 genome.wustl.edu 37 7 127222266 127222266 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 127222266 127222266 G A SNP GCC1 ENST00000321407 human ensembl 70_37 -1 known silent c.2130 p.I710 0.995 superfamily_ARM-type_fold pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC GCG 2641 genome.wustl.edu 37 2 163000611 163000611 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 163000611 163000611 C G SNP GCG ENST00000375497 human ensembl 70_37 -1 known missense c.462 p.E154D 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC GIPR 2696 genome.wustl.edu 37 19 46176166 46176166 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 46176166 46176166 G A SNP GIPR ENST00000590918 human ensembl 70_37 +1 known missense c.338 p.R113K 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC GJA9 81025 genome.wustl.edu 37 1 39340620 39340620 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 39340620 39340620 G A SNP GJA9 ENST00000357771 human ensembl 70_37 -1 known missense c.1151 p.S384F 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC GLTPD2 388323 genome.wustl.edu 37 17 4693081 4693081 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 4693081 4693081 C T SNP GLTPD2 ENST00000331264 human ensembl 70_37 +1 known silent c.366 p.F122 0.962 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTPD2 HGNC GNAT3 346562 genome.wustl.edu 37 7 80087990 80087990 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 80087990 80087990 G C SNP GNAT3 ENST00000398291 human ensembl 70_37 -1 known missense c.1062 p.F354L 1.000 prints_Gprotein_alpha_I pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT3 HGNC GOLGA6B 55889 genome.wustl.edu 37 15 72954664 72954664 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 72954664 72954664 C T SNP GOLGA6B ENST00000421285 human ensembl 70_37 +1 known silent c.919 p.L307 0.993 NULL NULL - no_errors GOLGA6B HGNC GPR142 350383 genome.wustl.edu 37 17 72365731 72365731 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 72365731 72365731 G A SNP GPR142 ENST00000585308 human ensembl 70_37 +1 known missense c.368 p.G123E 0.062 NULL NULL - no_errors GPR142 HGNC GPR98 84059 genome.wustl.edu 37 5 90016875 90016875 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 90016875 90016875 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.9747 p.M3249I 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GRIN1 2902 genome.wustl.edu 37 9 140033986 140033986 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 140033986 140033986 C T SNP GRIN1 ENST00000371561 human ensembl 70_37 +1 known silent c.48 p.S16 0.996 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC GSTM5 2949 genome.wustl.edu 37 1 110256232 110256232 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 110256232 110256232 C G SNP GSTM5 ENST00000492718 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GSTM5 HGNC GTPBP10 85865 genome.wustl.edu 37 7 90012327 90012327 + Missense_Mutation SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 90012327 90012327 A G SNP GTPBP10 ENST00000222511 human ensembl 70_37 +1 known missense c.835 p.K279E 1.000 pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pirsf_GTP-bd_Obg/CgtA pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain - no_errors GTPBP10 HGNC HAS1 3036 genome.wustl.edu 37 19 52222782 52222782 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 52222782 52222782 G A SNP HAS1 ENST00000222115 human ensembl 70_37 -1 known missense c.379 p.R127W 0.927 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC HAUS2 55142 genome.wustl.edu 37 15 42858841 42858841 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 42858841 42858841 G C SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.535 p.E179Q 0.992 NULL NULL - no_errors HAUS2 HGNC HAUS7 55559 genome.wustl.edu 37 X 152719932 152719932 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 152719932 152719932 G A SNP HAUS7 ENST00000370212 human ensembl 70_37 -1 known missense c.1172 p.S391F 0.004 NULL NULL - no_errors HAUS7 HGNC HCFC2 29915 genome.wustl.edu 37 12 104460085 104460085 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 104460085 104460085 G A SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known missense c.304 p.E102K 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC HCN4 10021 genome.wustl.edu 37 15 73622056 73622056 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 73622056 73622056 C T SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known missense c.1448 p.R483Q 0.990 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC HELLS 3070 genome.wustl.edu 37 10 96356854 96356854 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 96356854 96356854 G A SNP HELLS ENST00000371332 human ensembl 70_37 +1 known missense c.2546 p.R849Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC HELZ 9931 genome.wustl.edu 37 17 65132168 65132168 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 65132168 65132168 G C SNP HELZ ENST00000358691 human ensembl 70_37 -1 known missense c.3100 p.L1034V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC HERC1 8925 genome.wustl.edu 37 15 63932470 63932470 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 63932470 63932470 C T SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.11782 p.E3928K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HIF1AN 55662 genome.wustl.edu 37 10 102296378 102296378 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 102296378 102296378 G A SNP HIF1AN ENST00000299163 human ensembl 70_37 +1 known missense c.388 p.E130K 0.994 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC HKDC1 80201 genome.wustl.edu 37 10 71021857 71021857 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 71021857 71021857 C T SNP HKDC1 ENST00000395086 human ensembl 70_37 +1 known missense c.2416 p.H806Y 0.027 NULL pfam_Hexokinase_N,pfam_Hexokinase_C,prints_Hexokinase - no_errors HKDC1 HGNC HMCN2 256158 genome.wustl.edu 37 9 133271684 133271684 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 133271684 133271684 G A SNP HMCN2 ENST00000487727 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors HMCN2 HGNC HNRNPH1 3187 genome.wustl.edu 37 5 179041949 179041949 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 179041949 179041949 C T SNP HNRNPH1 ENST00000329433 human ensembl 70_37 -1 putative missense c.1312 p.A438T 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC HOOK3 84376 genome.wustl.edu 37 8 42821733 42821733 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 42821733 42821733 G C SNP HOOK3 ENST00000307602 human ensembl 70_37 +1 known silent c.897 p.L299 0.084 pfam_HOOK pfam_HOOK,superfamily_t-SNARE - no_errors HOOK3 HGNC HSF2BP 11077 genome.wustl.edu 37 21 45012110 45012110 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 21 45012110 45012110 C T SNP HSF2BP ENST00000291560 human ensembl 70_37 -1 known silent c.792 p.L264 0.977 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC IDE 3416 genome.wustl.edu 37 10 94297221 94297221 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 94297221 94297221 C T SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.185 p.R62Q 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC IFT140 9742 genome.wustl.edu 37 16 1573871 1573871 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 1573871 1573871 C G SNP IFT140 ENST00000426508 human ensembl 70_37 -1 known missense c.3228 p.E1076D 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC IGF2BP1 10642 genome.wustl.edu 37 17 47121448 47121448 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 47121448 47121448 G C SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known missense c.1320 p.K440N 1.000 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 IGF2BP1 HGNC IGFLR1 79713 genome.wustl.edu 37 19 36231340 36231340 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 36231340 36231340 C T SNP IGFLR1 ENST00000246532 human ensembl 70_37 -1 known missense c.283 p.G95R 0.204 NULL superfamily_DEATH-like - no_errors IGFLR1 HGNC IL15 3600 genome.wustl.edu 37 4 142653915 142653915 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 142653915 142653915 G C SNP IL15 ENST00000296545 human ensembl 70_37 +1 known missense c.403 p.E135Q 1.000 pfam_Interleukin_15-like,prints_Interleukin-15 pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15 - no_errors IL15 HGNC IL17C 27189 genome.wustl.edu 37 16 88705717 88705717 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 88705717 88705717 G A SNP IL17C ENST00000244241 human ensembl 70_37 +1 known missense c.335 p.R112H 1.000 pfam_Interleukin-17,prints_Interleukin-17_chordata pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC INPP5J 27124 genome.wustl.edu 37 22 31521299 31521299 + Nonsense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 22 31521299 31521299 G T SNP INPP5J ENST00000331075 human ensembl 70_37 +1 known nonsense c.574 p.E192* 0.481 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC INTS1 26173 genome.wustl.edu 37 7 1535091 1535091 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 1535091 1535091 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.2194 p.A732T 0.519 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC INTS12 57117 genome.wustl.edu 37 4 106604362 106604362 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 106604362 106604362 G C SNP INTS12 ENST00000340139 human ensembl 70_37 -1 known nonsense c.917 p.S306* 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC IP6K1 9807 genome.wustl.edu 37 3 49765613 49765613 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 49765613 49765613 C T SNP IP6K1 ENST00000321599 human ensembl 70_37 -1 known missense c.715 p.E239K 1.000 pfam_IPK pfam_IPK - no_errors IP6K1 HGNC IRX1 79192 genome.wustl.edu 37 5 3599746 3599746 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 3599746 3599746 C T SNP IRX1 ENST00000302006 human ensembl 70_37 +1 known silent c.684 p.I228 0.990 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX1 HGNC ITGA4 3676 genome.wustl.edu 37 2 182400201 182400201 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 182400201 182400201 G C SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.3046 p.E1016Q 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC JAG2 3714 genome.wustl.edu 37 14 105611334 105611334 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 105611334 105611334 C T SNP JAG2 ENST00000331782 human ensembl 70_37 -1 known missense c.3017 p.R1006Q 0.100 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC JARID2 3720 genome.wustl.edu 37 6 15468829 15468829 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 15468829 15468829 G A SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.550 p.E184K 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC JPH2 57158 genome.wustl.edu 37 20 42815123 42815123 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 42815123 42815123 C G SNP JPH2 ENST00000372980 human ensembl 70_37 -1 known missense c.223 p.E75Q 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC KCNJ14 3770 genome.wustl.edu 37 19 48965272 48965272 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 48965272 48965272 C T SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known silent c.291 p.F97 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC KCNMA1 3778 genome.wustl.edu 37 10 79396286 79396286 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 79396286 79396286 G A SNP KCNMA1 ENST00000481070 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNMA1 HGNC KIAA0556 23247 genome.wustl.edu 37 16 27692767 27692767 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 27692767 27692767 G A SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.856 p.E286K 0.999 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC KIF18A 81930 genome.wustl.edu 37 11 28056945 28056945 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 28056945 28056945 C T SNP KIF18A ENST00000263181 human ensembl 70_37 -1 known silent c.2493 p.R831 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC KIF23 9493 genome.wustl.edu 37 15 69730693 69730693 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 69730693 69730693 G C SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.1662 p.Q554H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC L2HGDH 79944 genome.wustl.edu 37 14 50760949 50760949 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 50760949 50760949 C T SNP L2HGDH ENST00000267436 human ensembl 70_37 -1 known missense c.424 p.E142K 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors L2HGDH HGNC LATS1 9113 genome.wustl.edu 37 6 150016267 150016267 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 150016267 150016267 G A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known nonsense c.439 p.R147* 0.786 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LBX2 85474 genome.wustl.edu 37 2 74726617 74726617 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 74726617 74726617 G A SNP LBX2 ENST00000377566 human ensembl 70_37 -1 known silent c.48 p.I16 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors LBX2 HGNC LCT 3938 genome.wustl.edu 37 2 136546109 136546109 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 136546109 136546109 C T SNP LCT ENST00000264162 human ensembl 70_37 -1 known missense c.5569 p.G1857R 0.015 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC LEPREL2 10536 genome.wustl.edu 37 12 6941065 6941065 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 6941065 6941065 G C SNP LEPREL2 ENST00000396725 human ensembl 70_37 +1 known missense c.1196 p.S399T 0.016 NULL smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC LGR5 8549 genome.wustl.edu 37 12 71946981 71946981 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 71946981 71946981 C T SNP LGR5 ENST00000266674 human ensembl 70_37 +1 known missense c.557 p.S186L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR5 HGNC LGR6 59352 genome.wustl.edu 37 1 202287768 202287768 + Silent SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 202287768 202287768 C A SNP LGR6 ENST00000367278 human ensembl 70_37 +1 known silent c.2337 p.I779 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC LILRA5 353514 genome.wustl.edu 37 19 54822935 54822935 + Nonsense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 54822935 54822935 G T SNP LILRA5 ENST00000301219 human ensembl 70_37 -1 known nonsense c.461 p.S154* 0.596 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC LIMCH1 22998 genome.wustl.edu 37 4 41683071 41683071 + Missense_Mutation SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 41683071 41683071 A G SNP LIMCH1 ENST00000503057 human ensembl 70_37 +1 known missense c.3712 p.T1238A 0.046 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC LINC00086 399668 genome.wustl.edu 37 X 134556239 134556239 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 134556239 134556239 C G SNP LINC00086 ENST00000417443 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00086 HGNC LINC00461 645323 genome.wustl.edu 37 5 87963223 87963223 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 87963223 87963223 G C SNP LINC00461 ENST00000500197 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00461 HGNC LIPH 200879 genome.wustl.edu 37 3 185229347 185229347 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 185229347 185229347 G C SNP LIPH ENST00000296252 human ensembl 70_37 -1 known silent c.1233 p.L411 0.883 superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC LOC100128252 100128252 genome.wustl.edu 37 19 57006285 57006285 + RNA SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 57006285 57006285 T C SNP LOC100128252 ENST00000585445 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors AC004696.2 Clone_based_vega_gene LOC101060360 101060360 genome.wustl.edu 37 16 11556126 11556126 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 11556126 11556126 C T SNP LOC101060360 ENST00000344649 human ensembl 70_37 -1 known missense c.37 p.E13K 0.001 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene LOC101060455 101060455 genome.wustl.edu 37 16 30309792 30309792 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 30309792 30309792 G A SNP LOC101060455 ENST00000411546 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-347C12.2 Clone_based_vega_gene LOC401242 401242 genome.wustl.edu 37 6 28829679 28829679 + RNA SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 28829679 28829679 C A SNP LOC401242 ENST00000440244 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors XXbac-BPG308K3.6 Clone_based_vega_gene LPIN2 9663 genome.wustl.edu 37 18 2937846 2937846 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 2937846 2937846 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.1012 p.D338N 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC LPO 4025 genome.wustl.edu 37 17 56332227 56332227 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 56332227 56332227 C T SNP LPO ENST00000262290 human ensembl 70_37 +1 known silent c.1161 p.L387 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC LRP1B 53353 genome.wustl.edu 37 2 141643896 141643896 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 141643896 141643896 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.3775 p.E1259K 1.000 NULL 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 LRP2 4036 genome.wustl.edu 37 2 170066032 170066032 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 170066032 170066032 G C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.6400 p.L2134V 0.993 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC MAP4K4 9448 genome.wustl.edu 37 2 102483733 102483733 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 102483733 102483733 G A SNP MAP4K4 ENST00000324219 human ensembl 70_37 +1 known missense c.2416 p.E806K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 MAP4K4 HGNC MAP7D2 256714 genome.wustl.edu 37 X 20082889 20082889 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 20082889 20082889 C G SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.165 p.Q55H 0.992 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC MBD6 114785 genome.wustl.edu 37 12 57919782 57919782 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 57919782 57919782 G A SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.1031 p.R344Q 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MDH2 4191 genome.wustl.edu 37 7 75677414 75677414 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 75677414 75677414 C T SNP MDH2 ENST00000461263 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors MDH2 HGNC METTL3 56339 genome.wustl.edu 37 14 21971383 21971383 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 21971383 21971383 G A SNP METTL3 ENST00000537163 human ensembl 70_37 -1 known nonsense c.442 p.Q148* 1.000 NULL NULL - no_errors METTL3 HGNC MIR19B2 406981 genome.wustl.edu 37 X 133303739 133303739 + RNA SNP A A C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 133303739 133303739 A C SNP MIR19B2 ENST00000385077 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors MIR19B2 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 2199 2199 + RNA SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 MT 2199 2199 A G SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 2436 2436 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 MT 2436 2436 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC KMT2D 8085 genome.wustl.edu 37 12 49420844 49420844 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 49420844 49420844 C A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.14905 p.E4969* 1.000 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_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49434256 49434256 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 49434256 49434256 C A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.7297 p.E2433* 1.000 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_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49437523 49437523 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 49437523 49437523 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.5362 p.A1788T 1.000 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_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151860728 151860728 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 151860728 151860728 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.9934 p.Q3312* 1.000 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 MPHOSPH10 10199 genome.wustl.edu 37 2 71371643 71371643 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 71371643 71371643 C T SNP MPHOSPH10 ENST00000244230 human ensembl 70_37 +1 known missense c.1532 p.S511L 1.000 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC MPPE1 65258 genome.wustl.edu 37 18 11884271 11884271 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 11884271 11884271 G A SNP MPPE1 ENST00000592755 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors MPPE1 HGNC MRPS9 64965 genome.wustl.edu 37 2 105654622 105654622 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 105654622 105654622 C T SNP MRPS9 ENST00000258455 human ensembl 70_37 +1 known silent c.72 p.L24 0.000 NULL pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors MRPS9 HGNC MST1L 11223 genome.wustl.edu 37 1 17085872 17085872 + Missense_Mutation SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 17085872 17085872 A G SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.949 p.W317R 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC MTFR1 9650 genome.wustl.edu 37 8 66619462 66619462 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 66619462 66619462 G A SNP MTFR1 ENST00000262146 human ensembl 70_37 +1 known missense c.735 p.M245I 1.000 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC MTMR3 8897 genome.wustl.edu 37 22 30414060 30414060 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 22 30414060 30414060 C T SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known missense c.1819 p.R607W 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC MTMR4 9110 genome.wustl.edu 37 17 56582214 56582214 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 56582214 56582214 C G SNP MTMR4 ENST00000323456 human ensembl 70_37 -1 known missense c.1225 p.D409H 0.998 pfscan_Tyr/Dual-specificity_Pase pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC MUC12 10071 genome.wustl.edu 37 7 100634472 100634472 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 100634472 100634472 G A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.1057 p.G353S 0.001 NULL pfam_SEA - no_errors MUC12 HGNC MVP 9961 genome.wustl.edu 37 16 29859269 29859269 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 29859269 29859269 C G SNP MVP ENST00000357402 human ensembl 70_37 +1 known missense c.2641 p.Q881E 0.000 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC MYH7 4625 genome.wustl.edu 37 14 23884676 23884676 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 23884676 23884676 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.5197 p.D1733N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYO1H 283446 genome.wustl.edu 37 12 109878605 109878605 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 109878605 109878605 C T SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known silent c.2493 p.R831 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC NAA25 80018 genome.wustl.edu 37 12 112513503 112513503 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 112513503 112513503 G A SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known missense c.755 p.S252F 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC NBEAL1 65065 genome.wustl.edu 37 2 204074025 204074025 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 204074025 204074025 G A SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.7678 p.E2560K 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NBPF6 653149 genome.wustl.edu 37 1 109007929 109007929 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 109007929 109007929 C T SNP NBPF6 ENST00000370040 human ensembl 70_37 +1 known nonsense c.1630 p.R544* 0.000 NULL pfam_NBPF_dom - no_errors NBPF6 HGNC NCBP1 4686 genome.wustl.edu 37 9 100418318 100418318 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 100418318 100418318 G A SNP NCBP1 ENST00000375147 human ensembl 70_37 +1 known missense c.1324 p.E442K 1.000 pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC NCOR2 9612 genome.wustl.edu 37 12 124886952 124886952 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 124886952 124886952 G C SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known silent c.1638 p.L546 0.890 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NEURL 9148 genome.wustl.edu 37 10 105330768 105330768 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 105330768 105330768 C T SNP NEURL ENST00000369780 human ensembl 70_37 +1 known silent c.225 p.L75 1.000 pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC NHLRC3 387921 genome.wustl.edu 37 13 39616414 39616414 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 39616414 39616414 G C SNP NHLRC3 ENST00000379600 human ensembl 70_37 +1 known missense c.558 p.L186F 0.998 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC NKTR 4820 genome.wustl.edu 37 3 42687388 42687388 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 42687388 42687388 G C SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.4310 p.R1437T 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC NLGN4X 57502 genome.wustl.edu 37 X 5821630 5821630 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 5821630 5821630 G C SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known silent c.1149 p.L383 0.057 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC NLRC3 197358 genome.wustl.edu 37 16 3613354 3613354 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 3613354 3613354 G C SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known silent c.1725 p.L575 0.963 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139402806 139402806 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 139402806 139402806 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.3203 p.C1068Y 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,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_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOTCH4 4855 genome.wustl.edu 37 6 32178591 32178591 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 32178591 32178591 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.2803 p.E935K 0.046 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,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_4,prints_Notch_dom - no_errors NOTCH4 HGNC NRARP 441478 genome.wustl.edu 37 9 140196233 140196233 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 140196233 140196233 C T SNP NRARP ENST00000356628 human ensembl 70_37 -1 known missense c.148 p.E50K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NRARP HGNC NRARP 441478 genome.wustl.edu 37 9 140196260 140196260 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 140196260 140196260 C G SNP NRARP ENST00000356628 human ensembl 70_37 -1 known missense c.121 p.E41Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NRARP HGNC NRCAM 4897 genome.wustl.edu 37 7 107823359 107823359 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 107823359 107823359 C G SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known missense c.2310 p.L770F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC NUAK2 81788 genome.wustl.edu 37 1 205280879 205280879 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 205280879 205280879 C T SNP NUAK2 ENST00000367157 human ensembl 70_37 -1 known silent c.306 p.E102 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC NUBPL 80224 genome.wustl.edu 37 14 32315788 32315788 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 32315788 32315788 G C SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known missense c.805 p.E269Q 1.000 NULL pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 - no_errors NUBPL HGNC NUP210 23225 genome.wustl.edu 37 3 13381483 13381483 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 13381483 13381483 G A SNP NUP210 ENST00000254508 human ensembl 70_37 -1 known silent c.3342 p.I1114 1.000 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC OBSCN 84033 genome.wustl.edu 37 1 228456235 228456235 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 228456235 228456235 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known silent c.4866 p.P1622 0.009 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSCN 84033 genome.wustl.edu 37 1 228524810 228524810 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 228524810 228524810 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.16643 p.S5548L 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OR10H4 126541 genome.wustl.edu 37 19 16060198 16060198 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 16060198 16060198 C T SNP OR10H4 ENST00000322107 human ensembl 70_37 +1 known silent c.381 p.I127 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H4 HGNC OR6K6 128371 genome.wustl.edu 37 1 158725553 158725553 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 158725553 158725553 C T SNP OR6K6 ENST00000368144 human ensembl 70_37 +1 known silent c.948 p.I316 0.840 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC OSBPL1A 114876 genome.wustl.edu 37 18 21819247 21819247 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 21819247 21819247 G C SNP OSBPL1A ENST00000319481 human ensembl 70_37 -1 known missense c.1381 p.L461V 0.991 NULL pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC OSBPL7 114881 genome.wustl.edu 37 17 45886521 45886521 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 45886521 45886521 G A SNP OSBPL7 ENST00000007414 human ensembl 70_37 -1 known silent c.2091 p.V697 0.991 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL7 HGNC PA2G4 5036 genome.wustl.edu 37 12 56504248 56504248 + Nonsense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 56504248 56504248 C G SNP PA2G4 ENST00000303305 human ensembl 70_37 +1 known nonsense c.695 p.S232* 1.000 superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC PALM2-AKAP2 445815 genome.wustl.edu 37 9 112898781 112898781 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 112898781 112898781 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known silent c.957 p.G319 0.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC PAN2 9924 genome.wustl.edu 37 12 56722356 56722356 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 56722356 56722356 C T SNP PAN2 ENST00000425394 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC PARD3 56288 genome.wustl.edu 37 10 34620159 34620159 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 34620159 34620159 G A SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.2728 p.R910C 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC PAX3 5077 genome.wustl.edu 37 2 223158986 223158986 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 223158986 223158986 G A SNP PAX3 ENST00000392069 human ensembl 70_37 -1 known silent c.486 p.F162 0.995 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC PC 5091 genome.wustl.edu 37 11 66616181 66616181 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 66616181 66616181 C G SNP PC ENST00000528224 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors PC HGNC PCDH15 65217 genome.wustl.edu 37 10 55626458 55626458 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 55626458 55626458 G A SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known nonsense c.3661 p.Q1221* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDH19 57526 genome.wustl.edu 37 X 99597061 99597061 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 99597061 99597061 G C SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.2688 p.F896L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140720894 140720894 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 140720894 140720894 G C SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.2356 p.E786Q 0.340 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PCSK5 5125 genome.wustl.edu 37 9 78853949 78853949 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 78853949 78853949 G A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.2941 p.E981K 0.000 superfamily_Growth_fac_rcpt pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PDE11A 50940 genome.wustl.edu 37 2 178682599 178682599 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 178682599 178682599 G C SNP PDE11A ENST00000286063 human ensembl 70_37 -1 known missense c.1630 p.Q544E 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC PDE12 201626 genome.wustl.edu 37 3 57542130 57542130 + Silent SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 57542130 57542130 C A SNP PDE12 ENST00000311180 human ensembl 70_37 +1 known silent c.24 p.R8 0.996 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC PDE6D 5147 genome.wustl.edu 37 2 232645809 232645809 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 232645809 232645809 C G SNP PDE6D ENST00000287600 human ensembl 70_37 -1 known missense c.16 p.E6Q 1.000 superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu pfam_GMP_PDE_delta,superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu - no_errors PDE6D HGNC PDGFC 56034 genome.wustl.edu 37 4 157684185 157684185 + RNA SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 157684185 157684185 A G SNP PDGFC ENST00000504672 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDGFC HGNC PDIA5 10954 genome.wustl.edu 37 3 122865005 122865005 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 122865005 122865005 C T SNP PDIA5 ENST00000316218 human ensembl 70_37 +1 known silent c.1041 p.F347 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC PEG3 5178 genome.wustl.edu 37 19 57325574 57325574 + Missense_Mutation SNP T T G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 57325574 57325574 T G SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known missense c.4236 p.E1412D 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC PGAM2 5224 genome.wustl.edu 37 7 44104528 44104528 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 44104528 44104528 G A SNP PGAM2 ENST00000297283 human ensembl 70_37 -1 known silent c.498 p.F166 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM2 HGNC PHF21A 51317 genome.wustl.edu 37 11 45992865 45992865 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 45992865 45992865 C T SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known silent c.414 p.L138 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC PHLPP1 23239 genome.wustl.edu 37 18 60563237 60563237 + Missense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 60563237 60563237 G T SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.2437 p.D813Y 1.000 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC PIGK 10026 genome.wustl.edu 37 1 77627018 77627018 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 77627018 77627018 C T SNP PIGK ENST00000370812 human ensembl 70_37 -1 known missense c.775 p.E259K 1.000 pfam_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC PIK3C2G 5288 genome.wustl.edu 37 12 18435273 18435273 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 18435273 18435273 G A SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known silent c.258 p.L86 0.002 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC PIK3R2 5296 genome.wustl.edu 37 19 18273798 18273798 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 18273798 18273798 G C SNP PIK3R2 ENST00000222254 human ensembl 70_37 +1 known silent c.1131 p.L377 0.832 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC PIN1 5300 genome.wustl.edu 37 19 9959799 9959799 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 9959799 9959799 T C SNP PIN1 ENST00000247970 human ensembl 70_37 +1 known missense c.416 p.F139S 1.000 pfam_PPIase_PpiC,pfscan_PPIase_PpiC pfam_PPIase_PpiC,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_PPIase_PpiC - no_errors PIN1 HGNC PLD5 200150 genome.wustl.edu 37 1 242687437 242687437 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 242687437 242687437 C T SNP PLD5 ENST00000536534 human ensembl 70_37 -1 known missense c.142 p.D48N 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC PLEKHG3 26030 genome.wustl.edu 37 14 65208125 65208125 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 65208125 65208125 G A SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known silent c.1890 p.G630 0.077 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC POT1 25913 genome.wustl.edu 37 7 124475408 124475408 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 124475408 124475408 C T SNP POT1 ENST00000357628 human ensembl 70_37 -1 known missense c.1430 p.R477K 0.745 NULL pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd - no_errors POT1 HGNC POTEE 445582 genome.wustl.edu 37 2 131976377 131976377 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 131976377 131976377 C T SNP POTEE ENST00000356920 human ensembl 70_37 +1 known silent c.402 p.H134 0.007 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename PPFIA2 8499 genome.wustl.edu 37 12 81741424 81741424 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 81741424 81741424 G A SNP PPFIA2 ENST00000549396 human ensembl 70_37 -1 known missense c.2120 p.S707F 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC PPP1R15A 23645 genome.wustl.edu 37 19 49377902 49377902 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 49377902 49377902 C T SNP PPP1R15A ENST00000200453 human ensembl 70_37 +1 known missense c.1412 p.S471F 0.005 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC PRADC1 84279 genome.wustl.edu 37 2 73456686 73456686 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 73456686 73456686 C T SNP PRADC1 ENST00000258083 human ensembl 70_37 -1 known missense c.181 p.E61K 1.000 NULL pfam_Protease-assoc_domain - no_errors PRADC1 HGNC PRAMEF10 343071 genome.wustl.edu 37 1 12954896 12954896 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 12954896 12954896 C G SNP PRAMEF10 ENST00000235347 human ensembl 70_37 -1 known missense c.387 p.M129I 0.001 NULL NULL - no_errors PRAMEF10 HGNC PRB1 5542 genome.wustl.edu 37 12 11506810 11506810 + Missense_Mutation SNP T T A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 11506810 11506810 T A SNP PRB1 ENST00000500254 human ensembl 70_37 -1 known missense c.227 p.K76M 0.000 NULL NULL - no_errors PRB1 HGNC PREX1 57580 genome.wustl.edu 37 20 47258742 47258742 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 47258742 47258742 C G SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.3739 p.E1247Q 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC PRR22 163154 genome.wustl.edu 37 19 5783499 5783499 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 5783499 5783499 G C SNP PRR22 ENST00000419421 human ensembl 70_37 -1 known silent c.759 p.L253 0.001 NULL NULL - no_errors PRR22 HGNC PTPN5 84867 genome.wustl.edu 37 11 18750523 18750523 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 18750523 18750523 C G SNP PTPN5 ENST00000358540 human ensembl 70_37 -1 known missense c.1656 p.M552I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC PTPRH 5794 genome.wustl.edu 37 19 55708498 55708498 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 55708498 55708498 G A SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known silent c.1977 p.L659 0.781 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC PXDNL 137902 genome.wustl.edu 37 8 52384809 52384809 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 52384809 52384809 G A SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known silent c.750 p.T250 0.967 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC QRFPR 84109 genome.wustl.edu 37 4 122301714 122301714 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 122301714 122301714 C T SNP QRFPR ENST00000394427 human ensembl 70_37 -1 known missense c.89 p.R30Q 0.930 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC RALBP1 10928 genome.wustl.edu 37 18 9522346 9522346 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 9522346 9522346 G A SNP RALBP1 ENST00000019317 human ensembl 70_37 +1 known missense c.892 p.E298K 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC RALGDS 5900 genome.wustl.edu 37 9 135975587 135975587 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 135975587 135975587 C T SNP RALGDS ENST00000469972 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RALGDS HGNC RALGDS 5900 genome.wustl.edu 37 9 135984132 135984132 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 135984132 135984132 C T SNP RALGDS ENST00000542690 human ensembl 70_37 -1 known missense c.919 p.D307N 0.997 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC RANBP2 5903 genome.wustl.edu 37 2 109380099 109380099 + Nonsense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 109380099 109380099 C G SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known nonsense c.3104 p.S1035* 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC RARS2 57038 genome.wustl.edu 37 6 88265133 88265133 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 88265133 88265133 C T SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.388 p.E130K 1.000 pfam_Arg-tRNA-synth_Ia_core,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC RARS2 57038 genome.wustl.edu 37 6 88265183 88265183 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 88265183 88265183 C T SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.338 p.G113E 1.000 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC RASAL3 64926 genome.wustl.edu 37 19 15568600 15568600 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 15568600 15568600 C A SNP RASAL3 ENST00000343625 human ensembl 70_37 -1 known nonsense c.934 p.E312* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC RBM19 9904 genome.wustl.edu 37 12 114387954 114387954 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 114387954 114387954 T C SNP RBM19 ENST00000261741 human ensembl 70_37 -1 known missense c.1006 p.I336V 0.988 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC RBMXL1 494115 genome.wustl.edu 37 1 89449631 89449631 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 89449631 89449631 G A SNP RBMXL1 ENST00000413769 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RBMXL1 HGNC RDH13 112724 genome.wustl.edu 37 19 55559864 55559864 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 55559864 55559864 G A SNP RDH13 ENST00000415061 human ensembl 70_37 -1 known missense c.491 p.S164L 0.978 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC RGS10 6001 genome.wustl.edu 37 10 121285616 121285617 + Frame_Shift_Ins INS - - T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 121285616 121285617 - T INS RGS10 ENST00000369103 human ensembl 70_37 -1 known frame_shift_ins c.183_182 p.E62fs 1.000:1.000 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 RGS10 HGNC RGS14 10636 genome.wustl.edu 37 5 176798942 176798942 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 176798942 176798942 G C SNP RGS14 ENST00000408923 human ensembl 70_37 +1 known missense c.1567 p.E523Q 1.000 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS14 HGNC RNF19A 25897 genome.wustl.edu 37 8 101300374 101300374 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 101300374 101300374 G C SNP RNF19A ENST00000341084 human ensembl 70_37 -1 known missense c.29 p.S10C 0.177 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC RNPEPL1 57140 genome.wustl.edu 37 2 241517259 241517259 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 241517259 241517259 G A SNP RNPEPL1 ENST00000270357 human ensembl 70_37 +1 known missense c.1435 p.E479K 0.815 NULL pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ROS1 6098 genome.wustl.edu 37 6 117650503 117650503 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 117650503 117650503 G A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known silent c.5355 p.I1785 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC RPE65 6121 genome.wustl.edu 37 1 68903995 68903995 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 68903995 68903995 C G SNP RPE65 ENST00000262340 human ensembl 70_37 -1 known missense c.1003 p.E335Q 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC RPGR 6103 genome.wustl.edu 37 X 38146664 38146664 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 38146664 38146664 C T SNP RPGR ENST00000339363 human ensembl 70_37 -1 known missense c.2203 p.E735K 0.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RPS6KC1 26750 genome.wustl.edu 37 1 213446895 213446895 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 213446895 213446895 C G SNP RPS6KC1 ENST00000490299 human ensembl 70_37 +1 known rna NULL NULL 0.065 - - - no_errors RPS6KC1 HGNC RRNAD1 51093 genome.wustl.edu 37 1 156704179 156704179 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 156704179 156704179 C G SNP RRNAD1 ENST00000368216 human ensembl 70_37 +1 known missense c.1015 p.H339D 1.000 NULL NULL - no_errors RRNAD1 HGNC RSPRY1 89970 genome.wustl.edu 37 16 57254652 57254652 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 57254652 57254652 G A SNP RSPRY1 ENST00000394420 human ensembl 70_37 +1 known missense c.910 p.E304K 1.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC RUNX1T1 862 genome.wustl.edu 37 8 93026941 93026941 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 93026941 93026941 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known nonsense c.367 p.Q123* 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC SBSPON 157869 genome.wustl.edu 37 8 73979371 73979371 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 73979371 73979371 G C SNP SBSPON ENST00000519697 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SBSPON HGNC SCAMP3 10067 genome.wustl.edu 37 1 155226555 155226555 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 155226555 155226555 C T SNP SCAMP3 ENST00000302631 human ensembl 70_37 -1 known silent c.807 p.P269 0.416 pfam_SCAMP pfam_SCAMP - no_errors SCAMP3 HGNC SCN9A 6335 genome.wustl.edu 37 2 167055975 167055975 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 167055975 167055975 G A SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.5177 p.S1726L 0.653 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC SCRN3 79634 genome.wustl.edu 37 2 175265809 175265809 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 175265809 175265809 G C SNP SCRN3 ENST00000272732 human ensembl 70_37 +1 known missense c.433 p.E145Q 1.000 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN3 HGNC SETDB1 9869 genome.wustl.edu 37 1 150917615 150917615 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 150917615 150917615 G C SNP SETDB1 ENST00000368962 human ensembl 70_37 +1 known missense c.1171 p.E391Q 0.015 smart_Tudor smart_Tudor - no_errors SETDB1 HGNC SLC12A9 56996 genome.wustl.edu 37 7 100463436 100463436 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 100463436 100463436 G A SNP SLC12A9 ENST00000354161 human ensembl 70_37 +1 known missense c.1954 p.D652N 0.006 NULL pfam_AA-permease_dom - no_errors SLC12A9 HGNC SLC18A3 6572 genome.wustl.edu 37 10 50819881 50819881 + Silent SNP T T G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 50819881 50819881 T G SNP SLC18A3 ENST00000374115 human ensembl 70_37 +1 known silent c.1095 p.A365 0.995 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC SLC27A5 10998 genome.wustl.edu 37 19 59010588 59010588 + Splice_Site SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 59010588 59010588 C T SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known splice_site c.1668-1 e8-1 0.997 - - - no_errors SLC27A5 HGNC SLC2A1 6513 genome.wustl.edu 37 1 43395647 43395647 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 43395647 43395647 G A SNP SLC2A1 ENST00000426263 human ensembl 70_37 -1 known silent c.576 p.I192 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC SLC2A8 29988 genome.wustl.edu 37 9 130164919 130164919 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 130164919 130164919 G A SNP SLC2A8 ENST00000373371 human ensembl 70_37 +1 known missense c.610 p.E204K 0.999 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A8 HGNC SLC34A3 142680 genome.wustl.edu 37 9 140128914 140128914 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 140128914 140128914 C T SNP SLC34A3 ENST00000361134 human ensembl 70_37 +1 known silent c.1140 p.L380 0.749 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC SLC38A1 81539 genome.wustl.edu 37 12 46599882 46599882 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 46599882 46599882 C G SNP SLC38A1 ENST00000398637 human ensembl 70_37 -1 known silent c.627 p.L209 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC SLC39A6 25800 genome.wustl.edu 37 18 33706184 33706184 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 33706184 33706184 C G SNP SLC39A6 ENST00000269187 human ensembl 70_37 -1 known missense c.787 p.E263Q 1.000 NULL pfam_ZIP - no_errors SLC39A6 HGNC SLC6A13 6540 genome.wustl.edu 37 12 344275 344275 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 344275 344275 G A SNP SLC6A13 ENST00000343164 human ensembl 70_37 -1 known missense c.812 p.T271M 0.954 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC SLC9A9 285195 genome.wustl.edu 37 3 143082369 143082369 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 143082369 143082369 C G SNP SLC9A9 ENST00000316549 human ensembl 70_37 -1 known missense c.1561 p.E521Q 0.998 prints_Na/H_exchanger_6,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC SLCO1C1 53919 genome.wustl.edu 37 12 20868094 20868094 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 20868094 20868094 C G SNP SLCO1C1 ENST00000381552 human ensembl 70_37 +1 known missense c.551 p.S184C 0.049 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC SLIT2 9353 genome.wustl.edu 37 4 20620402 20620402 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 20620402 20620402 C G SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.4360 p.R1454G 1.000 pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC SNORD90 692206 genome.wustl.edu 37 9 125642499 125642499 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 125642499 125642499 C G SNP SNORD90 ENST00000391145 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD90 HGNC SORL1 6653 genome.wustl.edu 37 11 121500219 121500219 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 121500219 121500219 G C SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.6592 p.D2198H 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SPATA31A3 727830 genome.wustl.edu 37 9 40703031 40703031 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 40703031 40703031 C T SNP SPATA31A3 ENST00000356699 human ensembl 70_37 +1 known missense c.688 p.R230W 0.000 NULL NULL - no_errors SPATA31A3 HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84603757 84603757 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 84603757 84603757 G A SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known silent c.24 p.L8 0.001 NULL NULL - no_errors SPATA31D1 HGNC SSR4 6748 genome.wustl.edu 37 X 153063931 153063931 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 153063931 153063931 C T SNP SSR4 ENST00000460616 human ensembl 70_37 +1 known rna NULL NULL 0.160 - - - no_errors SSR4 HGNC SSUH2 51066 genome.wustl.edu 37 3 8675369 8675369 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 8675369 8675369 G A SNP SSUH2 ENST00000544814 human ensembl 70_37 -1 known missense c.322 p.R108W 1.000 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC STAG2 10735 genome.wustl.edu 37 X 123184049 123184049 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 123184049 123184049 G A SNP STAG2 ENST00000218089 human ensembl 70_37 +1 known missense c.907 p.E303K 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC STK32A 202374 genome.wustl.edu 37 5 146703593 146703593 + Silent SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 146703593 146703593 C A SNP STK32A ENST00000397936 human ensembl 70_37 +1 known silent c.393 p.V131 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32A HGNC SUMF2 25870 genome.wustl.edu 37 7 56147257 56147257 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 56147257 56147257 C T SNP SUMF2 ENST00000342190 human ensembl 70_37 +1 known missense c.770 p.S257L 0.803 NULL pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC SYN3 8224 genome.wustl.edu 37 22 32914295 32914295 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 22 32914295 32914295 G A SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known nonsense c.1345 p.Q449* 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC TBR1 10716 genome.wustl.edu 37 2 162275534 162275534 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 162275534 162275534 C T SNP TBR1 ENST00000389554 human ensembl 70_37 +1 known silent c.1101 p.I367 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC TBXAS1 6916 genome.wustl.edu 37 7 139717537 139717537 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 139717537 139717537 G A SNP TBXAS1 ENST00000416849 human ensembl 70_37 +1 known silent c.1572 p.R524 0.994 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC TCERG1 10915 genome.wustl.edu 37 5 145862183 145862183 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 145862183 145862183 G A SNP TCERG1 ENST00000296702 human ensembl 70_37 +1 known missense c.1915 p.E639K 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC TCF20 6942 genome.wustl.edu 37 22 42609826 42609826 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 22 42609826 42609826 C G SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.1486 p.D496H 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC TENM4 26011 genome.wustl.edu 37 11 78412572 78412572 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 78412572 78412572 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.5086 p.E1696K 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC TESK2 10420 genome.wustl.edu 37 1 45810273 45810273 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 45810273 45810273 G A SNP TESK2 ENST00000486676 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors TESK2 HGNC TET1 80312 genome.wustl.edu 37 10 70404804 70404804 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 70404804 70404804 C T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.2318 p.S773L 0.047 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC TET1 80312 genome.wustl.edu 37 10 70406339 70406339 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 70406339 70406339 C G SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.3853 p.Q1285E 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC TEX14 56155 genome.wustl.edu 37 17 56682358 56682358 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 56682358 56682358 G A SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known silent c.1335 p.I445 0.965 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,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC TG 7038 genome.wustl.edu 37 8 133898695 133898695 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 133898695 133898695 G A SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.1078 p.E360K 0.929 superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC THEMIS2 9473 genome.wustl.edu 37 1 28203154 28203154 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 28203154 28203154 C T SNP THEMIS2 ENST00000373921 human ensembl 70_37 +1 known silent c.150 p.I50 0.989 NULL NULL - no_errors THEMIS2 HGNC TM9SF1 10548 genome.wustl.edu 37 14 24659605 24659605 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 24659605 24659605 C G SNP TM9SF1 ENST00000556387 human ensembl 70_37 -1 known missense c.2035 p.G679R 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC TMC4 147798 genome.wustl.edu 37 19 54672241 54672241 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 54672241 54672241 G A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known missense c.608 p.S203F 0.984 NULL pfam_TMC - no_errors TMC4 HGNC TMED8 283578 genome.wustl.edu 37 14 77818025 77818025 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 77818025 77818025 G A SNP TMED8 ENST00000216468 human ensembl 70_37 -1 known missense c.188 p.S63L 0.838 NULL superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC TNFRSF8 943 genome.wustl.edu 37 1 12164498 12164498 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 12164498 12164498 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known missense c.331 p.G111S 0.978 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC TNFSF13B 10673 genome.wustl.edu 37 13 108959350 108959350 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 108959350 108959350 C G SNP TNFSF13B ENST00000493765 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TNFSF13B HGNC TNS4 84951 genome.wustl.edu 37 17 38638451 38638451 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 38638451 38638451 G C SNP TNS4 ENST00000254051 human ensembl 70_37 -1 known silent c.1602 p.L534 0.981 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC TP73 7161 genome.wustl.edu 37 1 3638722 3638724 + In_Frame_Del DEL CGT CGT - TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 CGT CGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 3638722 3638724 CGT - DEL TP73 ENST00000378295 human ensembl 70_37 +1 known in_frame_del c.567_569 p.V191in_frame_del 0.994:0.999:0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TPO 7173 genome.wustl.edu 37 2 1544402 1544402 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 1544402 1544402 G A SNP TPO ENST00000329066 human ensembl 70_37 +1 known silent c.2655 p.S885 0.001 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC TRIM38 10475 genome.wustl.edu 37 6 25972171 25972171 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 25972171 25972171 G A SNP TRIM38 ENST00000349458 human ensembl 70_37 +1 known silent c.582 p.E194 0.977 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM38 HGNC TRIML2 205860 genome.wustl.edu 37 4 189022246 189022246 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 189022246 189022246 G A SNP TRIML2 ENST00000512729 human ensembl 70_37 -1 known silent c.294 p.A98 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC TRIML2 205860 genome.wustl.edu 37 4 189022289 189022289 + Missense_Mutation SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 189022289 189022289 A G SNP TRIML2 ENST00000512729 human ensembl 70_37 -1 known missense c.251 p.L84S 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC TRPC4 7223 genome.wustl.edu 37 13 38266214 38266214 + Missense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 38266214 38266214 G T SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known missense c.1156 p.H386N 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC TRUB2 26995 genome.wustl.edu 37 9 131079472 131079472 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 131079472 131079472 C T SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known missense c.275 p.G92D 0.995 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC TSACC 128229 genome.wustl.edu 37 1 156309577 156309577 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 156309577 156309577 G A SNP TSACC ENST00000368251 human ensembl 70_37 +1 known missense c.29 p.R10K 0.103 NULL NULL - no_errors TSACC HGNC TSNAX 7257 genome.wustl.edu 37 1 231699372 231699372 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 231699372 231699372 G C SNP TSNAX ENST00000475168 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TSNAX HGNC TTC25 83538 genome.wustl.edu 37 17 40117340 40117340 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 40117340 40117340 G C SNP TTC25 ENST00000377540 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC25 HGNC TTC3 7267 genome.wustl.edu 37 21 38460535 38460535 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 21 38460535 38460535 C T SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.227 p.S76F 0.995 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC TTN 7273 genome.wustl.edu 37 2 179427879 179427879 + Silent SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 179427879 179427879 T C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.75276 p.L25092 0.867 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179486421 179486421 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 179486421 179486421 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37426 p.E12476K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBB2A 7280 genome.wustl.edu 37 6 3154874 3154874 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 3154874 3154874 G A SNP TUBB2A ENST00000333628 human ensembl 70_37 -1 known silent c.561 p.L187 0.065 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC TXNRD1 7296 genome.wustl.edu 37 12 104719207 104719207 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 104719207 104719207 G A SNP TXNRD1 ENST00000429002 human ensembl 70_37 +1 known silent c.1308 p.T436 0.998 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC UBAP2 55833 genome.wustl.edu 37 9 33922521 33922521 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 33922521 33922521 G A SNP UBAP2 ENST00000360802 human ensembl 70_37 -1 known missense c.3341 p.S1114F 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC UBC 7316 genome.wustl.edu 37 12 125396263 125396263 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 125396263 125396263 G C SNP UBC ENST00000339647 human ensembl 70_37 -1 known silent c.2055 p.V685 0.104 NULL pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC UBXN6 80700 genome.wustl.edu 37 19 4457626 4457626 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 4457626 4457626 G C SNP UBXN6 ENST00000301281 human ensembl 70_37 -1 known silent c.69 p.L23 0.999 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC UHRF1 29128 genome.wustl.edu 37 19 4950940 4950940 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 4950940 4950940 G A SNP UHRF1 ENST00000262952 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC USH2A 7399 genome.wustl.edu 37 1 216420458 216420458 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 216420458 216420458 T C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.2278 p.N760D 0.996 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USP26 83844 genome.wustl.edu 37 X 132159590 132159590 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 132159590 132159590 C T SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.2659 p.E887K 0.975 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC USP35 57558 genome.wustl.edu 37 11 77921400 77921400 + Silent SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 77921400 77921400 C A SNP USP35 ENST00000529308 human ensembl 70_37 +1 known silent c.2499 p.L833 0.679 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC USP36 57602 genome.wustl.edu 37 17 76799495 76799495 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 76799495 76799495 C T SNP USP36 ENST00000312010 human ensembl 70_37 -1 known missense c.2782 p.G928S 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC VAX2 25806 genome.wustl.edu 37 2 71160168 71160168 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 71160168 71160168 C T SNP VAX2 ENST00000234392 human ensembl 70_37 +1 known missense c.707 p.S236L 0.824 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC VGLL1 51442 genome.wustl.edu 37 X 135631026 135631026 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 135631026 135631026 C T SNP VGLL1 ENST00000370634 human ensembl 70_37 +1 known missense c.493 p.R165C 0.001 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC VWA3B 200403 genome.wustl.edu 37 2 98928686 98928686 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 98928686 98928686 G A SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known silent c.3759 p.A1253 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC VWA5B2 90113 genome.wustl.edu 37 3 183951051 183951051 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 183951051 183951051 G C SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known silent c.396 p.V132 1.000 NULL NULL - no_errors VWA5B2 HGNC VWA5B2 90113 genome.wustl.edu 37 3 183956545 183956545 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 183956545 183956545 G A SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known missense c.2086 p.E696K 0.009 NULL NULL - no_errors VWA5B2 HGNC VWA8 23078 genome.wustl.edu 37 13 42164839 42164839 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 42164839 42164839 C T SNP VWA8 ENST00000379310 human ensembl 70_37 -1 known silent c.5049 p.K1683 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC WNT1 7471 genome.wustl.edu 37 12 49373340 49373340 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 49373340 49373340 G C SNP WNT1 ENST00000293549 human ensembl 70_37 +1 known missense c.194 p.S65T 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC XKR4 114786 genome.wustl.edu 37 8 56015667 56015667 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 56015667 56015667 G A SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known missense c.619 p.A207T 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC XPO5 57510 genome.wustl.edu 37 6 43534910 43534910 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 43534910 43534910 C T SNP XPO5 ENST00000265351 human ensembl 70_37 -1 known missense c.830 p.R277K 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ZAK 51776 genome.wustl.edu 37 2 174086238 174086238 + Missense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 174086238 174086238 G T SNP ZAK ENST00000338983 human ensembl 70_37 +1 known missense c.1348 p.D450Y 1.000 NULL 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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ZBTB46 140685 genome.wustl.edu 37 20 62421495 62421495 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 62421495 62421495 C T SNP ZBTB46 ENST00000245663 human ensembl 70_37 -1 known missense c.616 p.D206N 0.376 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ZBTB6 10773 genome.wustl.edu 37 9 125673338 125673338 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 125673338 125673338 C A SNP ZBTB6 ENST00000373659 human ensembl 70_37 -1 known missense c.1014 p.K338N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ZC3H13 23091 genome.wustl.edu 37 13 46549669 46549669 + Missense_Mutation SNP T T A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 46549669 46549669 T A SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.2217 p.R739S 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ZC3H6 376940 genome.wustl.edu 37 2 113067694 113067694 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 113067694 113067694 C G SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.569 p.S190C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ZDHHC13 54503 genome.wustl.edu 37 11 19192109 19192109 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 19192109 19192109 C G SNP ZDHHC13 ENST00000446113 human ensembl 70_37 +1 known silent c.1626 p.L542 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ZFAND5 7763 genome.wustl.edu 37 9 74969816 74969816 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 74969816 74969816 G C SNP ZFAND5 ENST00000488164 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZFAND5 HGNC ZFHX3 463 genome.wustl.edu 37 16 72831666 72831666 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 72831666 72831666 T C SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.4915 p.T1639A 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZIC3 7547 genome.wustl.edu 37 X 136649777 136649777 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 136649777 136649777 C G SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known missense c.927 p.F309L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ZNF134 7693 genome.wustl.edu 37 19 58131551 58131551 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 58131551 58131551 G A SNP ZNF134 ENST00000396161 human ensembl 70_37 +1 known missense c.64 p.E22K 0.283 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ZNF227 7770 genome.wustl.edu 37 19 44732432 44732432 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 44732432 44732432 G A SNP ZNF227 ENST00000589237 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF227 HGNC ZNF335 63925 genome.wustl.edu 37 20 44580951 44580951 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 44580951 44580951 C T SNP ZNF335 ENST00000322927 human ensembl 70_37 -1 known silent c.3024 p.P1008 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ZNF419 79744 genome.wustl.edu 37 19 58004450 58004450 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 58004450 58004450 C T SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known silent c.528 p.L176 0.000 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 ZNF419 HGNC ZNF484 83744 genome.wustl.edu 37 9 95609151 95609151 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 95609151 95609151 C T SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known missense c.1924 p.E642K 0.909 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ZNF611 81856 genome.wustl.edu 37 19 53217357 53217357 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 53217357 53217357 G C SNP ZNF611 ENST00000319783 human ensembl 70_37 -1 known nonsense c.101 p.S34* 0.818 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ZNF665 79788 genome.wustl.edu 37 19 53668443 53668443 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 53668443 53668443 C T SNP ZNF665 ENST00000396424 human ensembl 70_37 -1 known missense c.1300 p.E434K 0.069 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ZNF780A 284323 genome.wustl.edu 37 19 40581202 40581202 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 40581202 40581202 G A SNP ZNF780A ENST00000455521 human ensembl 70_37 -1 known missense c.1150 p.H384Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780A HGNC ZNF804B 219578 genome.wustl.edu 37 7 88964154 88964154 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 88964154 88964154 G A SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.1858 p.D620N 0.003 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ZNF814 730051 genome.wustl.edu 37 19 58384313 58384313 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 58384313 58384313 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known silent c.2445 p.L815 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ZNF883 169834 genome.wustl.edu 37 9 115759798 115759798 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 115759798 115759798 G A SNP ZNF883 ENST00000427548 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF883 HGNC ZSCAN2 54993 genome.wustl.edu 37 15 85164941 85164941 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 85164941 85164941 C T SNP ZSCAN2 ENST00000448803 human ensembl 70_37 +1 known silent c.1515 p.S505 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC