Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ADAMTSL3 0 genome.wustl.edu 37 15 84488589 84488589 + Silent SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 15 84488589 84488589 C T SNP ADAMTSL3 ENST00000286744 human ensembl 69_37n +1 known silent c.390 p.F130 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 70 0 0.00 42 20 32.26 - - - AMPH 0 genome.wustl.edu 37 7 38502653 38502653 + Missense_Mutation SNP G G T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 7 38502653 38502653 G T SNP AMPH ENST00000441628 human ensembl 69_37n -1 novel missense c.61 p.P21T 0.004 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin,prints_SH3_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AMPH HGNC ENSG00000078053 213 0 0.00 195 35 15.22 - - - ARFGEF1 0 genome.wustl.edu 37 8 68139523 68139523 + Missense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 8 68139523 68139523 C T SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known missense c.3765 p.M1255I 1.000 pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 108 0 0.00 95 15 13.64 - - - ASL 0 genome.wustl.edu 37 7 65552371 65552371 + Missense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 7 65552371 65552371 C T SNP ASL ENST00000304874 human ensembl 69_37n +1 known missense c.653 p.A218V 0.997 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 35 0 0.00 21 10 32.26 - - - ATP2B2 0 genome.wustl.edu 37 3 10387191 10387191 + Missense_Mutation SNP G G T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 3 10387191 10387191 G T SNP ATP2B2 ENST00000352432 human ensembl 69_37n -1 known missense c.2580 p.S860R 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 227 0 0.00 94 45 32.37 - - - ATP2B2 0 genome.wustl.edu 37 3 10387192 10387192 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 3 10387192 10387192 C G SNP ATP2B2 ENST00000352432 human ensembl 69_37n -1 known missense c.2579 p.S860T 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 227 0 0.00 92 45 32.61 - - - BBS10 0 genome.wustl.edu 37 12 76741020 76741020 + Missense_Mutation SNP G G T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 12 76741020 76741020 G T SNP BBS10 ENST00000393262 human ensembl 69_37n -1 known missense c.745 p.R249S 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC ENSG00000179941 91 0 0.00 42 22 34.38 - - - BLMH 0 genome.wustl.edu 37 17 28613877 28613877 + Nonsense_Mutation SNP A A C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 17 28613877 28613877 A C SNP BLMH ENST00000261714 human ensembl 69_37n -1 known nonsense c.507 p.Y169* 0.852 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 127 0 0.00 85 42 33.07 - - - C10orf12 0 genome.wustl.edu 37 10 98742390 98742390 + Missense_Mutation SNP G G T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 10 98742390 98742390 G T SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known missense c.1243 p.D415Y 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 39 0 0.00 21 5 19.23 - - - C10orf12 0 genome.wustl.edu 37 10 98742978 98742978 + Missense_Mutation SNP A A G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 10 98742978 98742978 A G SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known missense c.1831 p.K611E 0.001 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 36 0 0.00 37 6 13.95 - - - C2orf18 0 genome.wustl.edu 37 2 26998432 26998432 + Silent SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 2 26998432 26998432 G A SNP C2orf18 ENST00000344420 human ensembl 69_37n +1 known silent c.423 p.V141 0.011 pfam_DUF914_euk,pfam_Nuc_sug_transpt,pfam_DMT,pfam_UAA,pirsf_UCP036436 pfam_DUF914_euk,pfam_Nuc_sug_transpt,pfam_DMT,pfam_DUF250,pfam_UAA,pirsf_UCP036436 - no_errors C2orf18 HGNC ENSG00000213699 80 0 0.00 21 37 62.71 - - - CASP8 0 genome.wustl.edu 37 2 202141566 202141566 + Missense_Mutation SNP A A T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 2 202141566 202141566 A T SNP CASP8 ENST00000358485 human ensembl 69_37n +1 known missense c.854 p.Y285F 1.000 superfamily_DEATH-like,smart_Pept_C14_p45_core pfam_DED,pfam_Pept_C14_cat,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 CASP8 HGNC ENSG00000064012 135 0 0.00 45 59 56.73 - - - CCDC147 0 genome.wustl.edu 37 10 106160488 106160488 + Missense_Mutation SNP T T A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 10 106160488 106160488 T A SNP CCDC147 ENST00000369704 human ensembl 69_37n +1 known missense c.1866 p.D622E 0.580 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 133 0 0.00 72 8 10.00 - - - CCDC74B 0 genome.wustl.edu 37 2 130900856 130900856 + Missense_Mutation SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 2 130900856 130900856 G A SNP CCDC74B ENST00000310463 human ensembl 69_37n -1 known missense c.281 p.T94I 0.830 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 218 0 0.00 120 32 21.05 - - - CDC42BPB 0 genome.wustl.edu 37 14 103400160 103400160 + Missense_Mutation SNP T T G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 14 103400160 103400160 T G SNP CDC42BPB ENST00000361246 human ensembl 69_37n -1 known missense c.5025 p.K1675N 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPB HGNC ENSG00000198752 133 1 0.75 46 35 43.21 - - - CDIPT 0 genome.wustl.edu 37 16 29872462 29872462 + Silent SNP A A G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 16 29872462 29872462 A G SNP CDIPT ENST00000219789 human ensembl 69_37n -1 known silent c.297 p.S99 0.997 pirsf_CDP_diag_ino_3_P_euk pfam_CDP-OH_P_trans,pirsf_CDP_diag_ino_3_P_euk - no_errors CDIPT HGNC ENSG00000103502 103 0 0.00 60 21 25.61 - - - CECR2 0 genome.wustl.edu 37 22 18028881 18028881 + Missense_Mutation SNP C C A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 22 18028881 18028881 C A SNP CECR2 ENST00000400573 human ensembl 69_37n +1 novel missense c.3838 p.H1280N 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 46 0 0.00 27 24 47.06 - - - CPT1A 0 genome.wustl.edu 37 11 68566686 68566686 + Nonsense_Mutation SNP G G T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 11 68566686 68566686 G T SNP CPT1A ENST00000265641 human ensembl 69_37n -1 known nonsense c.693 p.Y231* 0.427 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 110 0 0.00 74 31 29.52 - - - DIAPH1 0 genome.wustl.edu 37 5 140953199 140953199 + Missense_Mutation SNP G G C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 5 140953199 140953199 G C SNP DIAPH1 ENST00000253811 human ensembl 69_37n -1 known missense c.2218 p.P740A 1.000 pfam_Formin_homology_1,superfamily_FH2_actin-bd pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH1 HGNC ENSG00000131504 58 0 0.00 40 8 16.67 - - - DNAH3 0 genome.wustl.edu 37 16 20997028 20997028 + Frame_Shift_Del DEL G G - TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 16 20997028 20997028 G - DEL DNAH3 ENST00000261383 human ensembl 69_37n -1 known frame_shift_del c.7036 p.H2346fs 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 43 0 0.00 31 14 30.43 - - - DNASE1L1 0 genome.wustl.edu 37 X 153631301 153631301 + Missense_Mutation SNP G G C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 X 153631301 153631301 G C SNP DNASE1L1 ENST00000014935 human ensembl 69_37n -1 known missense c.756 p.F252L 0.002 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L1 HGNC ENSG00000013563 39 0 0.00 4 14 73.68 - - - DYX1C1 0 genome.wustl.edu 37 15 55727258 55727258 + Splice_Site SNP T T C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 15 55727258 55727258 T C SNP DYX1C1 ENST00000321149 human ensembl 69_37n -1 known splice_site c.894-2 e7-2 0.997 - - - no_errors DYX1C1 HGNC ENSG00000256061 101 0 0.00 45 31 40.79 - - - EWSR1 0 genome.wustl.edu 37 22 29670255 29670255 + Splice_Site SNP A A G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 22 29670255 29670255 A G SNP EWSR1 ENST00000447973 human ensembl 69_37n +1 putative splice_site c.230-2 e5-2 1.000 - - - no_stop_codon EWSR1 HGNC ENSG00000182944 197 0 0.00 216 88 28.95 - - - FAM186A 0 genome.wustl.edu 37 12 50748233 50748233 + Missense_Mutation SNP C C A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 12 50748233 50748233 C A SNP FAM186A ENST00000327337 human ensembl 69_37n -1 known missense c.2382 p.M794I 0.003 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 148 0 0.00 77 27 25.96 - - - FAM75A6 0 genome.wustl.edu 37 9 43626815 43626815 + Silent SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 9 43626815 43626815 G A SNP FAM75A6 ENST00000332857 human ensembl 69_37n -1 known silent c.1872 p.D624 0.000 NULL NULL - no_errors FAM75A6 HGNC ENSG00000185775 43 0 0.00 32 4 11.11 - - - FAM83F 0 genome.wustl.edu 37 22 40417461 40417461 + Missense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 22 40417461 40417461 C T SNP FAM83F ENST00000333407 human ensembl 69_37n +1 known missense c.947 p.S316F 1.000 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 36 0 0.00 31 22 41.51 - - - FBXO15 0 genome.wustl.edu 37 18 71740756 71740756 + Silent SNP G G C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 18 71740756 71740756 G C SNP FBXO15 ENST00000419743 human ensembl 69_37n -1 known silent c.1473 p.V491 1.000 NULL 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 FBXO15 HGNC ENSG00000141665 205 2 0.96 144 21 12.73 - - - FLT4 0 genome.wustl.edu 37 5 180046347 180046347 + Silent SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 5 180046347 180046347 C T SNP FLT4 ENST00000261937 human ensembl 69_37n -1 known silent c.2667 p.E889 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_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 22 0 0.00 0 5 100.00 - - - FMNL1 0 genome.wustl.edu 37 17 43314962 43314962 + Missense_Mutation SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 17 43314962 43314962 G A SNP FMNL1 ENST00000328118 human ensembl 69_37n +1 known missense c.850 p.G284R 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 84 0 0.00 20 45 69.23 - - - FNDC7 0 genome.wustl.edu 37 1 109256138 109256138 + Silent SNP T T G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 1 109256138 109256138 T G SNP FNDC7 ENST00000271311 human ensembl 69_37n +1 known silent c.72 p.A24 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 386 0 0.00 503 69 12.06 - - - FSTL5 0 genome.wustl.edu 37 4 162307095 162307095 + Missense_Mutation SNP T T C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 4 162307095 162307095 T C SNP FSTL5 ENST00000306100 human ensembl 69_37n -1 known missense c.2348 p.K783R 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 179 0 0.00 102 33 24.44 - - - GIGYF1 0 genome.wustl.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 7 100284335 100284337 CCT - DEL GIGYF1 ENST00000275732 human ensembl 69_37n -1 known in_frame_del c.631_629 p.E210in_frame_del 1.000:0.992:0.999 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 32 0 0.00 10 2 16.67 - - - GLIS3 0 genome.wustl.edu 37 9 3856175 3856175 + Silent SNP A A C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 9 3856175 3856175 A C SNP GLIS3 ENST00000381971 human ensembl 69_37n -1 known silent c.2307 p.P769 0.978 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 133 0 0.00 117 42 26.42 - - - GP6 0 genome.wustl.edu 37 19 55526258 55526258 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 19 55526258 55526258 C G SNP GP6 ENST00000310373 human ensembl 69_37n -1 known missense c.1055 p.R352T 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 78 0 0.00 37 13 25.49 - - - GPR126 0 genome.wustl.edu 37 6 142726951 142726951 + Missense_Mutation SNP A A G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 6 142726951 142726951 A G SNP GPR126 ENST00000367609 human ensembl 69_37n +1 known missense c.2254 p.T752A 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 114 0 0.00 32 57 64.04 - - - GRID1 0 genome.wustl.edu 37 10 88123716 88123716 + Missense_Mutation SNP A A T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 10 88123716 88123716 A T SNP GRID1 ENST00000327946 human ensembl 69_37n -1 known missense c.217 p.F73I 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 143 0 0.00 46 23 33.33 - - - GRID1 0 genome.wustl.edu 37 10 88123717 88123717 + Silent SNP T T A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 10 88123717 88123717 T A SNP GRID1 ENST00000327946 human ensembl 69_37n -1 known silent c.216 p.P72 0.996 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 144 0 0.00 46 23 33.33 - - - HIST1H3I 0 genome.wustl.edu 37 6 27840018 27840018 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 6 27840018 27840018 C G SNP HIST1H3I ENST00000328488 human ensembl 69_37n -1 known missense c.76 p.A26P 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 28 0 0.00 25 6 18.75 - - - HNRNPD 0 genome.wustl.edu 37 4 83278494 83278495 + Frame_Shift_Del DEL TT TT - TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 4 83278494 83278495 TT - DEL HNRNPD ENST00000313899 human ensembl 69_37n -1 known frame_shift_del c.725_724 p.K242fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPD HGNC ENSG00000138668 287 0 0.00 97 88 47.57 - - - HNRNPD 0 genome.wustl.edu 37 4 83278498 83278498 + Nonsense_Mutation SNP C C A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 4 83278498 83278498 C A SNP HNRNPD ENST00000313899 human ensembl 69_37n -1 known nonsense c.721 p.E241* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPD HGNC ENSG00000138668 279 1 0.36 72 99 57.89 - - - HNRNPD 0 genome.wustl.edu 37 4 83278499 83278499 + Nonsense_Mutation SNP C C A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 4 83278499 83278499 C A SNP HNRNPD ENST00000514671 human ensembl 69_37n -1 known nonsense c.430 p.G144* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HNRNPD HGNC ENSG00000138668 276 0 0.00 73 96 56.14 - - - HS6ST1 0 genome.wustl.edu 37 2 129075877 129075877 + Missense_Mutation SNP G G T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 2 129075877 129075877 G T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.261 p.D87E 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 17 0 0.00 14 6 30.00 - - - IGSF1 0 genome.wustl.edu 37 X 130416483 130416483 + Missense_Mutation SNP T T C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 X 130416483 130416483 T C SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known missense c.1181 p.Y394C 0.002 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 160 0 0.00 47 66 58.41 - - - IL1RAP 0 genome.wustl.edu 37 3 190321988 190321988 + Nonsense_Mutation SNP A A T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 3 190321988 190321988 A T SNP IL1RAP ENST00000443369 human ensembl 69_37n +1 known nonsense c.136 p.K46* 1.000 smart_Ig_sub,prints_IL1_rcpt_I/II pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 116 1 0.85 86 39 31.20 - - - IMMT 0 genome.wustl.edu 37 2 86400803 86400803 + Missense_Mutation SNP G G C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 2 86400803 86400803 G C SNP IMMT ENST00000410111 human ensembl 69_37n -1 known missense c.391 p.Q131E 0.417 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 465 0 0.00 265 91 25.49 - - - ITPKC 0 genome.wustl.edu 37 19 41231346 41231346 + Splice_Site SNP T T G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 19 41231346 41231346 T G SNP ITPKC ENST00000263370 human ensembl 69_37n +1 known splice_site c.1255+2 e2+2 1.000 - - - no_errors ITPKC HGNC ENSG00000086544 82 0 0.00 72 17 19.10 - - - KCNT1 0 genome.wustl.edu 37 9 138669336 138669336 + Silent SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 9 138669336 138669336 C T SNP KCNT1 ENST00000298480 human ensembl 69_37n +1 known silent c.2502 p.I834 0.298 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 28 0 0.00 11 7 38.89 - - - LNX1 0 genome.wustl.edu 37 4 54374205 54374205 + Silent SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 4 54374205 54374205 G A SNP LNX1 ENST00000263925 human ensembl 69_37n -1 known silent c.570 p.D190 0.250 NULL pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 32 0 0.00 19 16 45.71 - - - LTN1 0 genome.wustl.edu 37 21 30331787 30331787 + Missense_Mutation SNP A A C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 21 30331787 30331787 A C SNP LTN1 ENST00000361371 human ensembl 69_37n -1 known missense c.2586 p.H862Q 0.406 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 58 0 0.00 63 18 22.22 - - - MED25 0 genome.wustl.edu 37 19 50333113 50333113 + Frame_Shift_Del DEL C C - TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 19 50333113 50333113 C - DEL MED25 ENST00000312865 human ensembl 69_37n +1 known frame_shift_del c.596 p.P201fs 0.380 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 23 0 0.00 14 2 12.50 - - - MIR10B 0 genome.wustl.edu 37 2 177015045 177015045 + RNA SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 2 177015045 177015045 G A SNP MIR10B ENST00000385011 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR10B HGNC ENSG00000207744 111 0 0.00 83 10 10.75 - - - MYO1A 0 genome.wustl.edu 37 12 57441140 57441140 + Missense_Mutation SNP T T C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 12 57441140 57441140 T C SNP MYO1A ENST00000300119 human ensembl 69_37n -1 known missense c.377 p.E126G 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 43 0 0.00 30 20 40.00 - - - NBEAL1 0 genome.wustl.edu 37 2 203992635 203992635 + Missense_Mutation SNP T T C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 2 203992635 203992635 T C SNP NBEAL1 ENST00000449802 human ensembl 69_37n +1 known missense c.3293 p.I1098T 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 91 0 0.00 61 35 36.46 - - - NUAK1 0 genome.wustl.edu 37 12 106461184 106461184 + Missense_Mutation SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 12 106461184 106461184 G A SNP NUAK1 ENST00000261402 human ensembl 69_37n -1 known missense c.1382 p.T461M 0.984 NULL 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 NUAK1 HGNC ENSG00000074590 90 0 0.00 46 16 25.81 - - - OR1A2 0 genome.wustl.edu 37 17 3101122 3101122 + Missense_Mutation SNP A A T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 17 3101122 3101122 A T SNP OR1A2 ENST00000381951 human ensembl 69_37n +1 known missense c.310 p.M104L 0.883 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 211 0 0.00 96 51 34.69 - - - OR2T1 0 genome.wustl.edu 37 1 248570049 248570049 + Missense_Mutation SNP T T A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 1 248570049 248570049 T A SNP OR2T1 ENST00000366474 human ensembl 69_37n +1 known missense c.754 p.C252S 0.964 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 421 0 0.00 276 153 35.58 - - - OR2T29 0 genome.wustl.edu 37 1 248722668 248722668 + Missense_Mutation SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 1 248722668 248722668 G A SNP OR2T29 ENST00000328570 human ensembl 69_37n -1 known missense c.125 p.A42V 0.001 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T29 HGNC ENSG00000182783 207 0 0.00 229 30 11.54 - - - OR8D1 0 genome.wustl.edu 37 11 124180486 124180486 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 11 124180486 124180486 C G SNP OR8D1 ENST00000357821 human ensembl 69_37n -1 known missense c.177 p.M59I 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 83 0 0.00 86 12 12.24 - - - PACSIN2 0 genome.wustl.edu 37 22 43287157 43287157 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 22 43287157 43287157 C G SNP PACSIN2 ENST00000263246 human ensembl 69_37n -1 known missense c.249 p.W83C 1.000 pfam_FCH,smart_FCH pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 45 0 0.00 52 21 28.77 - - - PADI1 0 genome.wustl.edu 37 1 17548919 17548919 + Missense_Mutation SNP T T A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 1 17548919 17548919 T A SNP PADI1 ENST00000375471 human ensembl 69_37n +1 known missense c.227 p.M76K 0.034 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 71 0 0.00 40 14 25.93 - - - PAH 0 genome.wustl.edu 37 12 103288660 103288660 + Missense_Mutation SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 12 103288660 103288660 G A SNP PAH ENST00000553106 human ensembl 69_37n -1 known missense c.205 p.P69S 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 118 0 0.00 65 17 20.73 - - - PCDHB16 0 genome.wustl.edu 37 5 140564371 140564371 + Missense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 5 140564371 140564371 C T SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known missense c.2237 p.S746F 0.953 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 67 0 0.00 32 38 54.29 - - - PHF20 0 genome.wustl.edu 37 20 34528959 34528959 + Silent SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 20 34528959 34528959 G A SNP PHF20 ENST00000374012 human ensembl 69_37n +1 known silent c.2886 p.K962 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 65 0 0.00 27 26 49.06 - - - PMFBP1 0 genome.wustl.edu 37 16 72166723 72166723 + Silent SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 16 72166723 72166723 C T SNP PMFBP1 ENST00000537465 human ensembl 69_37n -1 known silent c.1371 p.E457 0.006 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 127 0 0.00 105 41 28.08 - - - PTPRJ 0 genome.wustl.edu 37 11 48149442 48149442 + Missense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 11 48149442 48149442 C T SNP PTPRJ ENST00000418331 human ensembl 69_37n +1 known missense c.1204 p.H402Y 0.003 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 87 0 0.00 36 4 10.00 - - - QTRTD1 0 genome.wustl.edu 37 3 113785093 113785093 + Silent SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 3 113785093 113785093 C G SNP QTRTD1 ENST00000281273 human ensembl 69_37n +1 known silent c.219 p.V73 1.000 superfamily_tRNA_ribo_trans pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans - no_errors QTRTD1 HGNC ENSG00000151576 257 0 0.00 126 56 30.77 - - - RAB11FIP1 0 genome.wustl.edu 37 8 37720609 37720609 + Missense_Mutation SNP G G C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 8 37720609 37720609 G C SNP RAB11FIP1 ENST00000330843 human ensembl 69_37n -1 known missense c.3656 p.A1219G 0.970 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 135 0 0.00 94 18 16.07 - - - RAD54B 0 genome.wustl.edu 37 8 95399325 95399325 + Silent SNP T T C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 8 95399325 95399325 T C SNP RAD54B ENST00000336148 human ensembl 69_37n -1 known silent c.1872 p.L624 0.000 pfam_HDA_complex_subunit-2/3 pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 202 0 0.00 281 52 15.57 - - - RGS22 0 genome.wustl.edu 37 8 101078504 101078504 + Frame_Shift_Del DEL T T - TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 8 101078504 101078504 T - DEL RGS22 ENST00000360863 human ensembl 69_37n -1 known frame_shift_del c.615 p.D206fs 1.000 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC ENSG00000132554 149 0 0.00 186 40 17.54 - - - RSPH6A 0 genome.wustl.edu 37 19 46299287 46299287 + Missense_Mutation SNP A A C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 19 46299287 46299287 A C SNP RSPH6A ENST00000221538 human ensembl 69_37n -1 known missense c.1994 p.I665S 0.587 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 90 0 0.00 83 13 13.54 - - - SDK1 0 genome.wustl.edu 37 7 4285355 4285355 + Missense_Mutation SNP A A G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 7 4285355 4285355 A G SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known missense c.6299 p.D2100G 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 57 0 0.00 14 16 53.33 - - - SH3BP4 0 genome.wustl.edu 37 2 235950855 235950855 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 2 235950855 235950855 C G SNP SH3BP4 ENST00000344528 human ensembl 69_37n +1 known missense c.1442 p.P481R 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 47 0 0.00 28 15 34.88 - - - SIK2 0 genome.wustl.edu 37 11 111594680 111594680 + Missense_Mutation SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 11 111594680 111594680 G A SNP SIK2 ENST00000304987 human ensembl 69_37n +1 known missense c.2608 p.D870N 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 68 0 0.00 71 22 23.66 - - - SLC6A3 0 genome.wustl.edu 37 5 1406352 1406352 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 5 1406352 1406352 C G SNP SLC6A3 ENST00000270349 human ensembl 69_37n -1 known missense c.1550 p.S517T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 10 0 0.00 6 14 70.00 - - - SLC7A4 0 genome.wustl.edu 37 22 21385708 21385708 + Missense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 22 21385708 21385708 C T SNP SLC7A4 ENST00000382932 human ensembl 69_37n -1 known missense c.394 p.A132T 0.978 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 24 0 0.00 10 5 33.33 - - - SOAT1 0 genome.wustl.edu 37 1 179308636 179308636 + Silent SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 1 179308636 179308636 C T SNP SOAT1 ENST00000367619 human ensembl 69_37n +1 known silent c.453 p.L151 1.000 NULL pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 247 0 0.00 198 57 22.35 - - - TP53 0 genome.wustl.edu 37 17 7578554 7578554 + Missense_Mutation SNP A A T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 17 7578554 7578554 A T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.376 p.Y126N 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 80 0 0.00 21 33 61.11 - - - TPD52L2 0 genome.wustl.edu 37 20 62520553 62520553 + Missense_Mutation SNP A A C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 20 62520553 62520553 A C SNP TPD52L2 ENST00000217121 human ensembl 69_37n +1 known missense c.556 p.T186P 0.962 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 186 1 0.53 107 97 47.32 - - - TPSB2 0 genome.wustl.edu 37 16 1279650 1279650 + Silent SNP G G C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 16 1279650 1279650 G C SNP TPSB2 ENST00000430512 human ensembl 69_37n -1 known silent c.150 p.V50 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSB2 HGNC ENSG00000197253 40 0 0.00 9 24 70.59 - - - TRHDE 0 genome.wustl.edu 37 12 72956000 72956000 + Missense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 12 72956000 72956000 C T SNP TRHDE ENST00000261180 human ensembl 69_37n +1 known missense c.1709 p.T570I 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 65 0 0.00 47 19 28.79 - - - TRIM51HP 0 genome.wustl.edu 37 11 55065515 55065515 + RNA SNP G G T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 11 55065515 55065515 G T SNP TRIM51HP ENST00000526016 human ensembl 69_37n -1 putative rna NULL NULL 0.232 - - - no_errors TRIM51HP HGNC ENSG00000166007 26 0 0.00 21 12 36.36 - - - TRIM52 0 genome.wustl.edu 37 5 180687133 180687133 + Missense_Mutation SNP A A C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 5 180687133 180687133 A C SNP TRIM52 ENST00000327767 human ensembl 69_37n -1 known missense c.682 p.F228V 0.002 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 82 0 0.00 18 15 45.45 - - - TRIM67 0 genome.wustl.edu 37 1 231335936 231335936 + Nonsense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 1 231335936 231335936 C T SNP TRIM67 ENST00000366652 human ensembl 69_37n +1 known nonsense c.1306 p.Q436* 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 78 0 0.00 89 20 18.35 - - - USH2A 0 genome.wustl.edu 37 1 215847722 215847722 + Missense_Mutation SNP C C A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 1 215847722 215847722 C A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.13531 p.A4511S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,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 ENSG00000042781 109 0 0.00 82 34 29.06 - - - VPS26B 0 genome.wustl.edu 37 11 134115368 134115368 + Missense_Mutation SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 11 134115368 134115368 G A SNP VPS26B ENST00000281187 human ensembl 69_37n +1 known missense c.895 p.V299I 1.000 NULL pfam_VPS26,superfamily_Ig_E-set - no_errors VPS26B HGNC ENSG00000151502 101 0 0.00 29 32 52.46 - - - YLPM1 0 genome.wustl.edu 37 14 75248373 75248373 + Missense_Mutation SNP C C A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 14 75248373 75248373 C A SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.1627 p.P543T 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 248 0 0.00 62 63 50.40 - - - ZBTB11 0 genome.wustl.edu 37 3 101370349 101370349 + Silent SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 3 101370349 101370349 C T SNP ZBTB11 ENST00000312938 human ensembl 69_37n -1 known silent c.2823 p.V941 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 131 0 0.00 50 9 15.25 - - - ZFAT 0 genome.wustl.edu 37 8 135622886 135622886 + Missense_Mutation SNP T T C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 8 135622886 135622886 T C SNP ZFAT ENST00000377838 human ensembl 69_37n -1 known missense c.461 p.D154G 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 192 0 0.00 314 43 12.01 - - - ZFHX3 0 genome.wustl.edu 37 16 72830766 72830766 + Missense_Mutation SNP C C G TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 16 72830766 72830766 C G SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.5815 p.D1939H 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 ENSG00000140836 130 0 0.00 78 30 27.78 - - - ZNF208 0 genome.wustl.edu 37 19 22171632 22171632 + Nonsense_Mutation SNP A A C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 19 22171632 22171632 A C SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known nonsense c.83 p.L28* 0.007 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 ZNF208 HGNC ENSG00000160321 316 0 0.00 332 85 20.38 - - - ZNF219 0 genome.wustl.edu 37 14 21560535 21560535 + Silent SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 14 21560535 21560535 G A SNP ZNF219 ENST00000360947 human ensembl 69_37n -1 known silent c.921 p.C307 0.981 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept - no_errors ZNF219 HGNC ENSG00000165804 25 0 0.00 8 10 55.56 - - - ZNF263 0 genome.wustl.edu 37 16 3339518 3339518 + Missense_Mutation SNP C C T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 16 3339518 3339518 C T SNP ZNF263 ENST00000219069 human ensembl 69_37n +1 known missense c.1012 p.H338Y 0.236 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 33 0 0.00 33 9 21.43 - - - ZNF568 0 genome.wustl.edu 37 19 37427682 37427682 + Missense_Mutation SNP T T A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f29405cc-d712-4562-ac02-ca3c89fb82af df416cf7-8ddc-4ee0-b925-78a7e849ad84 19 37427682 37427682 T A SNP ZNF568 ENST00000333987 human ensembl 69_37n +1 known missense c.170 p.L57H 0.987 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 ZNF568 HGNC ENSG00000198453 143 0 0.00 89 22 19.82 - - -