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 AASDH 132949 genome.wustl.edu 37 4 57244534 57244534 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 57244534 57244534 C T SNP AASDH ENST00000205214 human ensembl 70_37 -1 known missense c.448 p.E150K 0.002 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ABCC9 10060 genome.wustl.edu 37 12 21968729 21968730 + Frame_Shift_Ins INS - - CTTAAGAA TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 21968729 21968730 - CTTAAGAA INS ABCC9 ENST00000261200 human ensembl 70_37 -1 known frame_shift_ins c.3991_3990 p.H1330fs 1.000:0.997 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ACAA1 30 genome.wustl.edu 37 3 38164399 38164399 + RNA SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 38164399 38164399 G C SNP ACAA1 ENST00000480865 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ACAA1 HGNC ANGPTL1 9068 genome.wustl.edu 37 1 178822038 178822038 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 178822038 178822038 G C SNP ANGPTL1 ENST00000234816 human ensembl 70_37 -1 known missense c.1068 p.I356M 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC ANPEP 290 genome.wustl.edu 37 15 90347826 90347826 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 90347826 90347826 C T SNP ANPEP ENST00000300060 human ensembl 70_37 -1 known missense c.920 p.S307N 0.010 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC APBB2 323 genome.wustl.edu 37 4 40825700 40825700 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 40825700 40825700 C G SNP APBB2 ENST00000295974 human ensembl 70_37 -1 known missense c.1890 p.M630I 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB2 HGNC APLF 200558 genome.wustl.edu 37 2 68804999 68804999 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 68804999 68804999 G C SNP APLF ENST00000303795 human ensembl 70_37 +1 known missense c.1381 p.E461Q 0.519 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC APOB 338 genome.wustl.edu 37 2 21234642 21234642 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 21234642 21234642 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.5098 p.D1700N 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC AQPEP 206338 genome.wustl.edu 37 5 115351427 115351427 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 115351427 115351427 C T SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.2721 p.D907 0.997 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ARHGAP35 2909 genome.wustl.edu 37 19 47422099 47422099 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 47422099 47422099 C T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.167 p.S56F 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ARHGAP36 158763 genome.wustl.edu 37 X 130218322 130218322 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 130218322 130218322 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.689 p.P230L 0.995 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ARHGAP6 395 genome.wustl.edu 37 X 11682476 11682476 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 11682476 11682476 G A SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.473 p.S158L 0.504 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ASXL3 80816 genome.wustl.edu 37 18 31323474 31323474 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 31323474 31323474 C G SNP ASXL3 ENST00000269197 human ensembl 70_37 +1 known missense c.3662 p.S1221C 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ATOH1 474 genome.wustl.edu 37 4 94750668 94750668 + Silent SNP A A G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 94750668 94750668 A G SNP ATOH1 ENST00000306011 human ensembl 70_37 +1 known silent c.591 p.K197 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ATOH1 HGNC ATP2A2 488 genome.wustl.edu 37 12 110778588 110778588 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 110778588 110778588 G A SNP ATP2A2 ENST00000539276 human ensembl 70_37 +1 known missense c.1886 p.G629D 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A2 HGNC BAP1 8314 genome.wustl.edu 37 3 52437782 52437782 + Nonsense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 52437782 52437782 G C SNP BAP1 ENST00000460680 human ensembl 70_37 -1 known nonsense c.1379 p.S460* 0.982 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC BLNK 29760 genome.wustl.edu 37 10 97959869 97959869 + Silent SNP G G T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 97959869 97959869 G T SNP BLNK ENST00000224337 human ensembl 70_37 -1 known silent c.1057 p.R353 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC BRMS1 25855 genome.wustl.edu 37 11 66109569 66109569 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 66109569 66109569 G C SNP BRMS1 ENST00000425825 human ensembl 70_37 -1 known missense c.137 p.S46C 0.980 NULL pfam_Sds3 - no_errors BRMS1 HGNC BTBD10 84280 genome.wustl.edu 37 11 13441050 13441050 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 13441050 13441050 C G SNP BTBD10 ENST00000278174 human ensembl 70_37 -1 known missense c.541 p.D181H 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC C18orf21 83608 genome.wustl.edu 37 18 33554887 33554887 + Missense_Mutation SNP T T G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 33554887 33554887 T G SNP C18orf21 ENST00000592875 human ensembl 70_37 +1 known missense c.129 p.C43W 1.000 NULL NULL - no_errors C18orf21 HGNC C19orf18 147685 genome.wustl.edu 37 19 58472918 58472918 + Nonsense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 58472918 58472918 G A SNP C19orf18 ENST00000314391 human ensembl 70_37 -1 known nonsense c.373 p.R125* 0.719 NULL NULL - no_errors C19orf18 HGNC C1orf112 55732 genome.wustl.edu 37 1 169771780 169771780 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 169771780 169771780 G A SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.85 p.D29N 0.997 NULL NULL - no_errors C1orf112 HGNC C1orf56 54964 genome.wustl.edu 37 1 151021205 151021205 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 151021205 151021205 C T SNP C1orf56 ENST00000368926 human ensembl 70_37 +1 known silent c.882 p.L294 0.000 NULL superfamily_Thrombospondin_1_rpt - no_errors C1orf56 HGNC C5AR1 728 genome.wustl.edu 37 19 47823477 47823477 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 47823477 47823477 G A SNP C5AR1 ENST00000355085 human ensembl 70_37 +1 known missense c.443 p.R148Q 0.882 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_Frt_met_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt - no_errors C5AR1 HGNC CASP10 843 genome.wustl.edu 37 2 202074061 202074061 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 202074061 202074061 C T SNP CASP10 ENST00000286186 human ensembl 70_37 +1 known silent c.1191 p.F397 0.959 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP10 HGNC CC2D1A 54862 genome.wustl.edu 37 19 14041055 14041055 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 14041055 14041055 G A SNP CC2D1A ENST00000318003 human ensembl 70_37 +1 known missense c.2788 p.D930N 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC CCDC34 91057 genome.wustl.edu 37 11 27384593 27384593 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 27384593 27384593 G A SNP CCDC34 ENST00000328697 human ensembl 70_37 -1 known missense c.149 p.S50L 0.003 NULL NULL - no_errors CCDC34 HGNC CD6 923 genome.wustl.edu 37 11 60776277 60776277 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 60776277 60776277 C A SNP CD6 ENST00000313421 human ensembl 70_37 +1 known missense c.741 p.H247Q 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD6 HGNC CDK5RAP2 55755 genome.wustl.edu 37 9 123298654 123298654 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 9 123298654 123298654 C G SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.658 p.D220H 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC CDR2 1039 genome.wustl.edu 37 16 22359077 22359077 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 22359077 22359077 C G SNP CDR2 ENST00000268383 human ensembl 70_37 -1 known missense c.574 p.E192Q 0.984 NULL NULL - no_errors CDR2 HGNC CEP192 55125 genome.wustl.edu 37 18 13099491 13099491 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 13099491 13099491 C T SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.6574 p.L2192F 1.000 NULL NULL - no_errors CEP192 HGNC CHERP 10523 genome.wustl.edu 37 19 16640543 16640543 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 16640543 16640543 C G SNP CHERP ENST00000546361 human ensembl 70_37 -1 known missense c.1045 p.A349P 0.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC CLDN18 51208 genome.wustl.edu 37 3 137729133 137729133 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 137729133 137729133 C T SNP CLDN18 ENST00000183605 human ensembl 70_37 +1 known silent c.66 p.I22 0.042 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC CLIP3 25999 genome.wustl.edu 37 19 36508769 36508769 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 36508769 36508769 C T SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known silent c.1308 p.G436 0.993 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC CNOT1 23019 genome.wustl.edu 37 16 58577399 58577399 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 58577399 58577399 G A SNP CNOT1 ENST00000441024 human ensembl 70_37 -1 known missense c.4546 p.H1516Y 0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC COL22A1 169044 genome.wustl.edu 37 8 139629165 139629165 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 139629165 139629165 C T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.3862 p.G1288S 0.992 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC CPSF4 10898 genome.wustl.edu 37 7 99051700 99051700 + Nonsense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 99051700 99051700 C T SNP CPSF4 ENST00000292476 human ensembl 70_37 +1 known nonsense c.682 p.Q228* 1.000 superfamily_Znf_CCHC pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC CSGALNACT1 55790 genome.wustl.edu 37 8 19363168 19363168 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 19363168 19363168 C T SNP CSGALNACT1 ENST00000311540 human ensembl 70_37 -1 known missense c.178 p.V60I 0.001 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC CSTB 1476 genome.wustl.edu 37 21 45194154 45194154 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 21 45194154 45194154 C T SNP CSTB ENST00000291568 human ensembl 70_37 -1 known missense c.226 p.E76K 0.474 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Prot_inh_stefinA - no_errors CSTB HGNC CUX1 1523 genome.wustl.edu 37 7 101844749 101844749 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 101844749 101844749 C T SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known silent c.2205 p.L735 0.666 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC CYP2C9 1559 genome.wustl.edu 37 10 96741048 96741048 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 96741048 96741048 G C SNP CYP2C9 ENST00000260682 human ensembl 70_37 +1 known missense c.1070 p.R357T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC DAPK2 23604 genome.wustl.edu 37 15 64204182 64204182 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 64204182 64204182 G A SNP DAPK2 ENST00000261891 human ensembl 70_37 -1 known silent c.957 p.F319 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,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 DAPK2 HGNC DCHS1 8642 genome.wustl.edu 37 11 6649939 6649939 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 6649939 6649939 C G SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.5284 p.E1762Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DDRGK1 65992 genome.wustl.edu 37 20 3175951 3175951 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 20 3175951 3175951 C T SNP DDRGK1 ENST00000354488 human ensembl 70_37 -1 known missense c.559 p.E187K 1.000 pfam_DDRGK_dom-contain pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC DEGS2 123099 genome.wustl.edu 37 14 100615443 100615443 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 100615443 100615443 G A SNP DEGS2 ENST00000305631 human ensembl 70_37 -1 known silent c.687 p.F229 0.994 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC DEK 7913 genome.wustl.edu 37 6 18236826 18236826 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 6 18236826 18236826 C G SNP DEK ENST00000397239 human ensembl 70_37 -1 known missense c.904 p.E302Q 1.000 NULL pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd - no_errors DEK HGNC DIRAS1 148252 genome.wustl.edu 37 19 2717432 2717432 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 2717432 2717432 C T SNP DIRAS1 ENST00000323469 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS1 HGNC DNAH17 8632 genome.wustl.edu 37 17 76501504 76501504 + Silent SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 76501504 76501504 G C SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.4815 p.L1605 0.973 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DPP6 1804 genome.wustl.edu 37 7 154379724 154379724 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 154379724 154379724 C G SNP DPP6 ENST00000406326 human ensembl 70_37 +1 putative missense c.992 p.S331W 0.003 NULL NULL - no_errors DPP6 HGNC DRD5 1816 genome.wustl.edu 37 4 9784379 9784379 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 9784379 9784379 C T SNP DRD5 ENST00000304374 human ensembl 70_37 +1 known silent c.726 p.I242 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors DRD5 HGNC E4F1 1877 genome.wustl.edu 37 16 2283533 2283533 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 2283533 2283533 G C SNP E4F1 ENST00000301727 human ensembl 70_37 +1 known missense c.1151 p.R384P 0.245 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC EGFR 1956 genome.wustl.edu 37 7 55249069 55249069 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 55249069 55249069 C G SNP EGFR ENST00000275493 human ensembl 70_37 +1 known missense c.2367 p.I789M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC EGFR 1956 genome.wustl.edu 37 7 55249134 55249134 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 55249134 55249134 C G SNP EGFR ENST00000275493 human ensembl 70_37 +1 known missense c.2432 p.S811C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000262732 0 genome.wustl.edu 37 16 14025863 14025863 + RNA SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 14025863 14025863 G C SNP ENSG00000262732 ENST00000575137 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2135D7.2 Clone_based_vega_gene EPHB6 2051 genome.wustl.edu 37 7 142563735 142563735 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 142563735 142563735 G C SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known missense c.1123 p.E375Q 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB6 HGNC EPS8L1 54869 genome.wustl.edu 37 19 55594890 55594890 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 55594890 55594890 G A SNP EPS8L1 ENST00000586329 human ensembl 70_37 +1 novel silent c.1305 p.V435 0.990 NULL pfam_PTB,superfamily_SH3_domain - no_errors EPS8L1 HGNC EVI2B 2124 genome.wustl.edu 37 17 29631855 29631855 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 29631855 29631855 C T SNP EVI2B ENST00000544462 human ensembl 70_37 -1 known missense c.818 p.R273K 0.732 NULL NULL - no_errors EVI2B HGNC FAIM3 9214 genome.wustl.edu 37 1 207078188 207078188 + RNA SNP A A T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 207078188 207078188 A T SNP FAIM3 ENST00000528654 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAIM3 HGNC FAM47A 158724 genome.wustl.edu 37 X 34148721 34148721 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 34148721 34148721 C T SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known missense c.1675 p.E559K 0.009 NULL NULL - no_errors FAM47A HGNC FBXO3 26273 genome.wustl.edu 37 11 33763601 33763601 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 33763601 33763601 C A SNP FBXO3 ENST00000265651 human ensembl 70_37 -1 known missense c.1269 p.M423I 1.000 NULL pfam_ApaG_domain,pfam_F-box_dom_cyclin-like,superfamily_ApaG_domain,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cell_wall_assmbl_KNR4-like,pfscan_ApaG_domain,pfscan_F-box_dom_cyclin-like - no_errors FBXO3 HGNC FBXW11 23291 genome.wustl.edu 37 5 171299926 171299926 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 171299926 171299926 G A SNP FBXW11 ENST00000265094 human ensembl 70_37 -1 known silent c.1227 p.L409 0.223 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC FBXW8 26259 genome.wustl.edu 37 12 117426609 117426609 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 117426609 117426609 G A SNP FBXW8 ENST00000309909 human ensembl 70_37 +1 known missense c.1174 p.D392N 0.997 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC FREM1 158326 genome.wustl.edu 37 9 14801858 14801858 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 9 14801858 14801858 C G SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known missense c.3489 p.Q1163H 0.944 superfamily_Cadherin-like pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC GABBR1 2550 genome.wustl.edu 37 6 29599339 29599339 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 6 29599339 29599339 G C SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known missense c.123 p.I41M 1.000 superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC GFPT1 2673 genome.wustl.edu 37 2 69554097 69554097 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 69554097 69554097 C T SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known silent c.2004 p.V668 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC GLA 2717 genome.wustl.edu 37 X 100658843 100658843 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 100658843 100658843 C G SNP GLA ENST00000218516 human ensembl 70_37 -1 known missense c.325 p.D109H 1.000 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC GRAMD4 23151 genome.wustl.edu 37 22 47064702 47064702 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 47064702 47064702 C G SNP GRAMD4 ENST00000361034 human ensembl 70_37 +1 known missense c.981 p.F327L 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC GTSE1 51512 genome.wustl.edu 37 22 46722476 46722476 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 46722476 46722476 C G SNP GTSE1 ENST00000454366 human ensembl 70_37 +1 known missense c.1649 p.P550R 0.254 NULL NULL - no_errors GTSE1 HGNC HADH 3033 genome.wustl.edu 37 4 108911144 108911144 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 108911144 108911144 C T SNP HADH ENST00000403312 human ensembl 70_37 +1 known missense c.56 p.S19L 0.997 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC HGSNAT 138050 genome.wustl.edu 37 8 43025773 43025773 + Nonsense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 43025773 43025773 C T SNP HGSNAT ENST00000458501 human ensembl 70_37 +1 known nonsense c.763 p.Q255* 0.031 NULL pfam_DUF1624 - no_errors HGSNAT HGNC HIVEP1 3096 genome.wustl.edu 37 6 12125377 12125377 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 6 12125377 12125377 G C SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.5349 p.L1783F 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HOXD9 3235 genome.wustl.edu 37 2 176988751 176988751 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 176988751 176988751 G C SNP HOXD9 ENST00000249499 human ensembl 70_37 +1 known missense c.907 p.E303Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD9 HGNC IFT172 26160 genome.wustl.edu 37 2 27669207 27669207 + Missense_Mutation SNP T T C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 27669207 27669207 T C SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.4675 p.R1559G 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC IGHMBP2 3508 genome.wustl.edu 37 11 68704244 68704244 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 68704244 68704244 G A SNP IGHMBP2 ENST00000255078 human ensembl 70_37 +1 known missense c.2296 p.G766R 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ITGA1 3672 genome.wustl.edu 37 5 52206174 52206174 + Silent SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 52206174 52206174 G C SNP ITGA1 ENST00000282588 human ensembl 70_37 +1 known silent c.1782 p.P594 0.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC KCNB2 9312 genome.wustl.edu 37 8 73480393 73480393 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 73480393 73480393 C T SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known missense c.424 p.H142Y 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC KCNJ8 3764 genome.wustl.edu 37 12 21919523 21919523 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 21919523 21919523 C A SNP KCNJ8 ENST00000240662 human ensembl 70_37 -1 known missense c.409 p.V137F 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,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC KIAA1024 23251 genome.wustl.edu 37 15 79750330 79750330 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 79750330 79750330 C T SNP KIAA1024 ENST00000305428 human ensembl 70_37 +1 known missense c.1841 p.S614L 0.224 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC KIF26A 26153 genome.wustl.edu 37 14 104639437 104639437 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 104639437 104639437 C T SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known missense c.1544 p.S515F 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC LCOR 84458 genome.wustl.edu 37 10 98714983 98714983 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 98714983 98714983 C T SNP LCOR ENST00000356016 human ensembl 70_37 +1 known silent c.606 p.F202 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC MAGEA12 4111 genome.wustl.edu 37 X 151900161 151900161 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 151900161 151900161 C T SNP MAGEA12 ENST00000357916 human ensembl 70_37 -1 known missense c.640 p.D214N 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC MAPK11 5600 genome.wustl.edu 37 22 50704989 50704989 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 50704989 50704989 G A SNP MAPK11 ENST00000330651 human ensembl 70_37 -1 known missense c.662 p.A221V 0.999 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK11 HGNC MARK4 57787 genome.wustl.edu 37 19 45801453 45801453 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 45801453 45801453 G A SNP MARK4 ENST00000300843 human ensembl 70_37 +1 known missense c.1930 p.A644T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK4 HGNC MAST4 375449 genome.wustl.edu 37 5 66456416 66456416 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 66456416 66456416 G A SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.3790 p.E1264K 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC MBD6 114785 genome.wustl.edu 37 12 57921757 57921757 + Nonsense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 57921757 57921757 C G SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known nonsense c.2363 p.S788* 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MGAT5B 146664 genome.wustl.edu 37 17 74865078 74865078 + RNA SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 74865078 74865078 C T SNP MGAT5B ENST00000374998 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MGAT5B HGNC KMT2D 8085 genome.wustl.edu 37 12 49427595 49427595 + Silent SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 49427595 49427595 G C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.10893 p.L3631 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 49427852 49427852 + Nonsense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 49427852 49427852 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.10738 p.Q3580* 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 MTOR 2475 genome.wustl.edu 37 1 11184646 11184646 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 11184646 11184646 C G SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6571 p.D2191H 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MUC16 94025 genome.wustl.edu 37 19 9068371 9068371 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 9068371 9068371 C G SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.19075 p.E6359Q 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MYH11 4629 genome.wustl.edu 37 16 15814153 15814153 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 15814153 15814153 G A SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known missense c.4829 p.T1610M 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC NAA15 80155 genome.wustl.edu 37 4 140264026 140264026 + Nonsense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 140264026 140264026 C A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known nonsense c.449 p.S150* 1.000 pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NAV3 89795 genome.wustl.edu 37 12 78444560 78444560 + Missense_Mutation SNP T T C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 78444560 78444560 T C SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.2149 p.F717L 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NEDD4 4734 genome.wustl.edu 37 15 56155208 56155208 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 56155208 56155208 G C SNP NEDD4 ENST00000508342 human ensembl 70_37 -1 known missense c.1834 p.L612V 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC NTNG1 22854 genome.wustl.edu 37 1 107937833 107937833 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 107937833 107937833 C T SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known silent c.945 p.C315 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC OAS1 4938 genome.wustl.edu 37 12 113354322 113354322 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 113354322 113354322 G C SNP OAS1 ENST00000445409 human ensembl 70_37 +1 known missense c.663 p.K221N 0.001 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC OR10A3 26496 genome.wustl.edu 37 11 7960477 7960477 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 7960477 7960477 G C SNP OR10A3 ENST00000360759 human ensembl 70_37 -1 known missense c.591 p.I197M 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A3 HGNC OR52N4 390072 genome.wustl.edu 37 11 5776878 5776878 + Missense_Mutation SNP G G T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 5776878 5776878 G T SNP OR52N4 ENST00000317254 human ensembl 70_37 +1 known missense c.908 p.R303L 0.457 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N4 HGNC OR8J1 219477 genome.wustl.edu 37 11 56128642 56128642 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 56128642 56128642 C A SNP OR8J1 ENST00000303039 human ensembl 70_37 +1 known missense c.920 p.T307K 0.038 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC P2RY13 53829 genome.wustl.edu 37 3 151046485 151046485 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 151046485 151046485 G A SNP P2RY13 ENST00000325602 human ensembl 70_37 -1 known missense c.359 p.S120L 0.321 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC PCNP 57092 genome.wustl.edu 37 3 101311589 101311589 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 101311589 101311589 G C SNP PCNP ENST00000265260 human ensembl 70_37 +1 known missense c.529 p.D177H 1.000 NULL NULL - no_errors PCNP HGNC PDCD6IP 10015 genome.wustl.edu 37 3 33863539 33863539 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 33863539 33863539 G A SNP PDCD6IP ENST00000457054 human ensembl 70_37 +1 known missense c.427 p.D143N 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC PDE1C 5137 genome.wustl.edu 37 7 31890315 31890315 + Nonsense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 31890315 31890315 G C SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known nonsense c.791 p.S264* 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC PDE3A 5139 genome.wustl.edu 37 12 20782869 20782869 + Nonsense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 20782869 20782869 C G SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known nonsense c.1568 p.S523* 0.127 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC PDE4B 5142 genome.wustl.edu 37 1 66384436 66384436 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 66384436 66384436 G C SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known missense c.199 p.E67Q 0.998 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC PDP2 57546 genome.wustl.edu 37 16 66919167 66919167 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 66919167 66919167 C T SNP PDP2 ENST00000311765 human ensembl 70_37 +1 known missense c.980 p.S327L 0.980 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP2 HGNC PI4KA 5297 genome.wustl.edu 37 22 21188890 21188890 + Silent SNP T T C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 21188890 21188890 T C SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known silent c.327 p.K109 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC PIGK 10026 genome.wustl.edu 37 1 77685079 77685079 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 77685079 77685079 G A SNP PIGK ENST00000370812 human ensembl 70_37 -1 known silent c.9 p.V3 0.014 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PNPLA5 150379 genome.wustl.edu 37 22 44282265 44282266 + Frame_Shift_Ins INS - - C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 44282265 44282266 - C INS PNPLA5 ENST00000216177 human ensembl 70_37 -1 known frame_shift_ins c.867_866 p.L290fs 0.001:0.022 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC POLR2J4 84820 genome.wustl.edu 37 7 43992117 43992117 + RNA SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 43992117 43992117 C T SNP POLR2J4 ENST00000454572 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors POLR2J4 HGNC PPP1R3F 89801 genome.wustl.edu 37 X 49143337 49143337 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 49143337 49143337 G A SNP PPP1R3F ENST00000055335 human ensembl 70_37 +1 known missense c.2185 p.E729K 0.772 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC PTEN 5728 genome.wustl.edu 37 10 89685300 89685300 + Nonsense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 89685300 89685300 C G SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.195 p.Y65* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTPRT 11122 genome.wustl.edu 37 20 41101176 41101176 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 20 41101176 41101176 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC RACGAP1 29127 genome.wustl.edu 37 12 50384052 50384052 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 50384052 50384052 C T SNP RACGAP1 ENST00000312377 human ensembl 70_37 -1 known silent c.1898 p.*633 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC REG1A 5967 genome.wustl.edu 37 2 79349971 79349971 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 79349971 79349971 G A SNP REG1A ENST00000233735 human ensembl 70_37 +1 known missense c.326 p.R109H 0.865 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC RNF214 257160 genome.wustl.edu 37 11 117150913 117150913 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 117150913 117150913 G A SNP RNF214 ENST00000300650 human ensembl 70_37 +1 known silent c.1083 p.E361 0.998 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ROCK1 6093 genome.wustl.edu 37 18 18539802 18539802 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 18539802 18539802 C G SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known missense c.3511 p.D1171H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC RTF1 23168 genome.wustl.edu 37 15 41768712 41768712 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 41768712 41768712 G A SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known silent c.1551 p.L517 0.723 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC SAP130 79595 genome.wustl.edu 37 2 128712902 128712902 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 128712902 128712902 C T SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known missense c.2158 p.E720K 0.999 NULL NULL - no_errors SAP130 HGNC SCML2 10389 genome.wustl.edu 37 X 18283732 18283732 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 18283732 18283732 C G SNP SCML2 ENST00000251900 human ensembl 70_37 -1 known missense c.921 p.R307S 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC SCN4A 6329 genome.wustl.edu 37 17 62020421 62020421 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 62020421 62020421 C T SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.4053 p.T1351 0.453 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC SCN8A 6334 genome.wustl.edu 37 12 52168059 52168059 + Silent SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 52168059 52168059 C A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known silent c.3732 p.I1244 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SEMA3D 223117 genome.wustl.edu 37 7 84751142 84751142 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 84751142 84751142 C T SNP SEMA3D ENST00000284136 human ensembl 70_37 -1 known silent c.66 p.L22 0.021 NULL pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3D HGNC SGPP2 130367 genome.wustl.edu 37 2 223423365 223423365 + Silent SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 223423365 223423365 C G SNP SGPP2 ENST00000321276 human ensembl 70_37 +1 known silent c.948 p.L316 0.991 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP2 HGNC SLC24A4 123041 genome.wustl.edu 37 14 92905693 92905693 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 92905693 92905693 C G SNP SLC24A4 ENST00000532405 human ensembl 70_37 +1 known missense c.333 p.F111L 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC SLC33A1 9197 genome.wustl.edu 37 3 155571018 155571018 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 155571018 155571018 G C SNP SLC33A1 ENST00000359479 human ensembl 70_37 -1 known missense c.769 p.L257V 0.999 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC SLC6A19 340024 genome.wustl.edu 37 5 1216712 1216712 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 1216712 1216712 C G SNP SLC6A19 ENST00000304460 human ensembl 70_37 +1 known missense c.927 p.I309M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC SNRNP200 23020 genome.wustl.edu 37 2 96970571 96970571 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 96970571 96970571 G A SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known silent c.81 p.L27 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC SNRPD1 6632 genome.wustl.edu 37 18 19192399 19192399 + Silent SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 19192399 19192399 C G SNP SNRPD1 ENST00000300413 human ensembl 70_37 +1 known silent c.9 p.L3 0.998 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD1 HGNC SPTBN2 6712 genome.wustl.edu 37 11 66460084 66460084 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 66460084 66460084 C T SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.5113 p.D1705N 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC SPTLC2 9517 genome.wustl.edu 37 14 77978688 77978688 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 77978688 77978688 C T SNP SPTLC2 ENST00000216484 human ensembl 70_37 -1 known missense c.1628 p.R543Q 0.995 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC SRSF5 6430 genome.wustl.edu 37 14 70234911 70234911 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 70234911 70234911 C G SNP SRSF5 ENST00000451983 human ensembl 70_37 +1 known missense c.38 p.P13R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC SYNGR4 23546 genome.wustl.edu 37 19 48869139 48869139 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 48869139 48869139 G A SNP SYNGR4 ENST00000344846 human ensembl 70_37 +1 known missense c.40 p.E14K 0.879 pirsf_Synaptogyrin pfam_MARVEL-like_dom,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC TBC1D3P2 440452 genome.wustl.edu 37 17 60344588 60344588 + RNA SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 60344588 60344588 G C SNP TBC1D3P2 ENST00000339120 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P2 HGNC TCF20 6942 genome.wustl.edu 37 22 42610503 42610503 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 42610503 42610503 G C SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.809 p.S270C 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC TIE1 7075 genome.wustl.edu 37 1 43784988 43784988 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 43784988 43784988 G A SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.3005 p.R1002Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC TNRC6A 27327 genome.wustl.edu 37 16 24788506 24788506 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 24788506 24788506 G A SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.416 p.R139Q 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC TONSL 4796 genome.wustl.edu 37 8 145659414 145659414 + Missense_Mutation SNP G G T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 145659414 145659414 G T SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.3334 p.P1112T 0.087 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC TRIM39 56658 genome.wustl.edu 37 6 30297275 30297275 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 6 30297275 30297275 G C SNP TRIM39 ENST00000376656 human ensembl 70_37 +1 known missense c.181 p.E61Q 0.999 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,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 TRIM39 HGNC TSC2 7249 genome.wustl.edu 37 16 2137872 2137872 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 2137872 2137872 C G SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.4998 p.F1666L 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TTN 7273 genome.wustl.edu 37 2 179473514 179473514 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 179473514 179473514 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.44520 p.K14840N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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 USP37 57695 genome.wustl.edu 37 2 219321885 219321885 + Splice_Site SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 219321885 219321885 C T SNP USP37 ENST00000258399 human ensembl 70_37 -1 known splice_site c.2644-1 e21-1 1.000 - - - no_errors USP37 HGNC USP54 159195 genome.wustl.edu 37 10 75258749 75258749 + Nonsense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 75258749 75258749 G A SNP USP54 ENST00000339859 human ensembl 70_37 -1 known nonsense c.4693 p.Q1565* 0.999 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC USP7 7874 genome.wustl.edu 37 16 9024213 9024213 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 9024213 9024213 C A SNP USP7 ENST00000344836 human ensembl 70_37 -1 known missense c.121 p.V41L 1.000 NULL pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC USP9X 8239 genome.wustl.edu 37 X 41077746 41077746 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 41077746 41077746 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.6331 p.E2111K 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC WDR35 57539 genome.wustl.edu 37 2 20189768 20189768 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 20189768 20189768 G A SNP WDR35 ENST00000345530 human ensembl 70_37 -1 known silent c.9 p.F3 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ZAR1 326340 genome.wustl.edu 37 4 48492817 48492817 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 48492817 48492817 C T SNP ZAR1 ENST00000327939 human ensembl 70_37 +1 known missense c.509 p.P170L 0.018 NULL superfamily_Znf_FYVE_PHD - no_errors ZAR1 HGNC ZNF320 162967 genome.wustl.edu 37 19 53384853 53384853 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 53384853 53384853 G A SNP ZNF320 ENST00000391781 human ensembl 70_37 -1 known missense c.526 p.L176F 0.001 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 ZNF320 HGNC KRBOX4 55634 genome.wustl.edu 37 X 46332435 46332435 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 46332435 46332435 G C SNP ZNF673 ENST00000344302 human ensembl 70_37 +1 known missense c.504 p.K168N 0.036 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF673 HGNC ZNF768 79724 genome.wustl.edu 37 16 30536174 30536174 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 30536174 30536174 G C SNP ZNF768 ENST00000380412 human ensembl 70_37 -1 known missense c.1287 p.F429L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ZNF791 163049 genome.wustl.edu 37 19 12740056 12740056 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 12740056 12740056 G C SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known missense c.1713 p.M571I 0.931 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 ZNF791 HGNC ZNF98 148198 genome.wustl.edu 37 19 22585688 22585688 + Splice_Site SNP T T A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 22585688 22585688 T A SNP ZNF98 ENST00000357774 human ensembl 70_37 -1 known splice_site c.158-2 e3-2 0.741 - - - no_errors ZNF98 HGNC ZSWIM2 151112 genome.wustl.edu 37 2 187693277 187693277 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 187693277 187693277 G C SNP ZSWIM2 ENST00000295131 human ensembl 70_37 -1 known missense c.1336 p.Q446E 0.009 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC