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 ALDH1A1 0 genome.wustl.edu 37 9 75540487 75540487 + Silent SNP A A C TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 9 75540487 75540487 A C SNP ALDH1A1 ENST00000297785 human ensembl 69_37n -1 known silent c.546 p.P182 0.990 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 230 0 0.00 252 38 13.10 - - - ALDOB 0 genome.wustl.edu 37 9 104193120 104193120 + Missense_Mutation SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 9 104193120 104193120 G A SNP ALDOB ENST00000374855 human ensembl 69_37n -1 known missense c.50 p.S17L 0.986 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 317 0 0.00 312 53 14.52 - - - ATP9A 0 genome.wustl.edu 37 20 50329531 50329532 + Frame_Shift_Ins INS - - G TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 20 50329531 50329532 - G INS ATP9A ENST00000338821 human ensembl 69_37n -1 known frame_shift_ins c.410_409 p.Q137fs 1.000:1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 91 0 0.00 72 14 16.28 - - - C7orf41 0 genome.wustl.edu 37 7 30197080 30197080 + Silent SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 7 30197080 30197080 C T SNP C7orf41 ENST00000324453 human ensembl 69_37n +1 known silent c.312 p.D104 0.972 NULL NULL - no_errors C7orf41 HGNC ENSG00000180354 232 0 0.00 147 90 37.97 - - - CCDC115 0 genome.wustl.edu 37 2 131099725 131099727 + In_Frame_Del DEL CTT CTT - TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 2 131099725 131099727 CTT - DEL CCDC115 ENST00000437688 human ensembl 69_37n -1 known in_frame_del c.78_76 p.K26in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 55 0 0.00 34 9 20.93 - - - CD1E 0 genome.wustl.edu 37 1 158326560 158326560 + Silent SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 1 158326560 158326560 C T SNP CD1E ENST00000368167 human ensembl 69_37n +1 known silent c.1041 p.V347 0.000 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 396 0 0.00 467 74 13.68 - - - COL6A2 0 genome.wustl.edu 37 21 47539719 47539719 + Silent SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 21 47539719 47539719 C T SNP COL6A2 ENST00000300527 human ensembl 69_37n +1 known silent c.1287 p.P429 0.258 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 40 0 0.00 17 11 39.29 - - - CORO7 0 genome.wustl.edu 37 16 4412030 4412030 + Nonsense_Mutation SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 16 4412030 4412030 C T SNP CORO7 ENST00000576437 human ensembl 69_37n -1 known nonsense c.219 p.W73* 1.000 NULL NULL - no_errors CORO7 Clone_based_vega_gene ENSG00000262246 69 0 0.00 43 28 39.44 - - - CTC1 0 genome.wustl.edu 37 17 8151340 8151340 + Silent SNP C C A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 17 8151340 8151340 C A SNP CTC1 ENST00000315684 human ensembl 69_37n -1 known silent c.15 p.R5 0.000 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 64 0 0.00 35 16 31.37 - - - DENND1A 0 genome.wustl.edu 37 9 126429352 126429354 + In_Frame_Del DEL AAG AAG - TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 9 126429352 126429354 AAG - DEL DENND1A ENST00000394219 human ensembl 69_37n -1 known in_frame_del c.364_362 p.S121in_frame_del 1.000:1.000:1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 188 0 0.00 244 38 13.43 - - - DNM1 0 genome.wustl.edu 37 9 130996358 130996358 + Missense_Mutation SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 9 130996358 130996358 G A SNP DNM1 ENST00000372923 human ensembl 69_37n +1 known missense c.1394 p.R465Q 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM1 HGNC ENSG00000106976 25 0 0.00 9 13 59.09 - - - DOPEY1 0 genome.wustl.edu 37 6 83863703 83863703 + Missense_Mutation SNP A A T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 6 83863703 83863703 A T SNP DOPEY1 ENST00000349129 human ensembl 69_37n +1 known missense c.6330 p.E2110D 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 699 0 0.00 264 249 48.54 - - - DPY19L2 0 genome.wustl.edu 37 12 64055199 64055199 + Nonsense_Mutation SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 12 64055199 64055199 C T SNP DPY19L2 ENST00000324472 human ensembl 69_37n -1 known nonsense c.513 p.W171* 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 268 0 0.00 551 106 16.13 - - - EIF3G 0 genome.wustl.edu 37 19 10226169 10226169 + Silent SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 19 10226169 10226169 G A SNP EIF3G ENST00000253108 human ensembl 69_37n -1 known silent c.933 p.N311 0.983 smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 141 1 0.70 79 18 18.56 - - - EPHA5 0 genome.wustl.edu 37 4 66197758 66197758 + Missense_Mutation SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 4 66197758 66197758 G A SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known missense c.2941 p.R981W 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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 EPHA5 HGNC ENSG00000145242 196 1 0.51 168 61 26.64 - - - ETS1 0 genome.wustl.edu 37 11 128354830 128354830 + Silent SNP G G C TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 11 128354830 128354830 G C SNP ETS1 ENST00000392668 human ensembl 69_37n -1 known silent c.750 p.P250 0.796 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC ENSG00000134954 265 0 0.00 202 64 23.97 - - - FBXO25 0 genome.wustl.edu 37 8 413124 413124 + Missense_Mutation SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 8 413124 413124 C T SNP FBXO25 ENST00000276326 human ensembl 69_37n +1 known missense c.961 p.R321W 0.993 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC ENSG00000147364 415 0 0.00 152 65 29.95 - - - FHOD3 0 genome.wustl.edu 37 18 34238119 34238119 + Silent SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 18 34238119 34238119 C T SNP FHOD3 ENST00000257209 human ensembl 69_37n +1 known silent c.1278 p.S426 0.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 482 0 0.00 658 98 12.88 - - - GPC3 0 genome.wustl.edu 37 X 132887698 132887698 + Nonsense_Mutation SNP G G T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 X 132887698 132887698 G T SNP GPC3 ENST00000406757 human ensembl 69_37n -1 known nonsense c.32 p.S11* 1.000 pfam_Glypican pfam_Glypican - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GPC3 HGNC ENSG00000147257 950 0 0.00 753 304 28.73 - - - HEATR7B2 0 genome.wustl.edu 37 5 41033173 41033173 + Silent SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 5 41033173 41033173 G A SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known silent c.2331 p.S777 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 444 0 0.00 352 68 16.19 - - - HGFAC 0 genome.wustl.edu 37 4 3445881 3445881 + Silent SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 4 3445881 3445881 C T SNP HGFAC ENST00000382774 human ensembl 69_37n +1 known silent c.591 p.C197 0.007 pirsf_Coagulation_fac_XIIa/HGFA,smart_EGF-like,pfscan_EG-like_dom pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors HGFAC HGNC ENSG00000109758 35 0 0.00 13 5 27.78 - - - KIAA0922 0 genome.wustl.edu 37 4 154479493 154479493 + Silent SNP C C G TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 4 154479493 154479493 C G SNP KIAA0922 ENST00000409959 human ensembl 69_37n +1 known silent c.633 p.V211 0.983 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 251 0 0.00 208 38 15.45 - - - KIF2B 0 genome.wustl.edu 37 17 51900989 51900989 + Missense_Mutation SNP G G C TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 17 51900989 51900989 G C SNP KIF2B ENST00000268919 human ensembl 69_37n +1 known missense c.595 p.D199H 0.705 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 73 0 0.00 72 8 10.00 - - - KRT33A 0 genome.wustl.edu 37 17 39503181 39503181 + Missense_Mutation SNP T T G TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 17 39503181 39503181 T G SNP KRT33A ENST00000007735 human ensembl 69_37n -1 known missense c.791 p.Q264P 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 280 1 0.36 187 103 35.52 - - - MAGI1 0 genome.wustl.edu 37 3 65361584 65361584 + Missense_Mutation SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 3 65361584 65361584 C T SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.3032 p.R1011Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 325 0 0.00 196 57 22.53 - - - MUC16 0 genome.wustl.edu 37 19 9000463 9000463 + Silent SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 19 9000463 9000463 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.40521 p.T13507 0.000 pfam_SEA,smart_SEA,pfscan_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 615 2 0.32 439 125 22.16 - - - NBPF12 0 genome.wustl.edu 37 1 146400130 146400130 + Missense_Mutation SNP C C A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 1 146400130 146400130 C A SNP NBPF12 ENST00000446760 human ensembl 69_37n +1 known missense c.606 p.D202E 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 61 0 0.00 31 21 40.38 - - - NELL2 0 genome.wustl.edu 37 12 45269656 45269656 + Silent SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 12 45269656 45269656 G A SNP NELL2 ENST00000437801 human ensembl 69_37n -1 known silent c.147 p.R49 0.483 NULL pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 97 0 0.00 64 16 20.00 - - - NOP14 0 genome.wustl.edu 37 4 2955267 2955267 + Missense_Mutation SNP C C G TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 4 2955267 2955267 C G SNP NOP14 ENST00000416614 human ensembl 69_37n -1 known missense c.718 p.E240Q 0.227 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 540 0 0.00 431 88 16.96 - - - P2RY13 0 genome.wustl.edu 37 3 151046371 151046371 + Missense_Mutation SNP A A G TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 3 151046371 151046371 A G SNP P2RY13 ENST00000325602 human ensembl 69_37n -1 known missense c.473 p.V158A 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_UDPG_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y13_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC ENSG00000181631 30 0 0.00 68 11 13.92 - - - PCDH19 0 genome.wustl.edu 37 X 99661925 99661925 + Silent SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 X 99661925 99661925 G A SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known silent c.1671 p.N557 0.999 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 307 0 0.00 249 65 20.70 - - - RAB11FIP1 0 genome.wustl.edu 37 8 37720512 37720512 + Silent SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 8 37720512 37720512 C T SNP RAB11FIP1 ENST00000330843 human ensembl 69_37n -1 known silent c.3753 p.L1251 1.000 pfam_Rab-bd_FIP-RBD 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 437 0 0.00 537 190 26.06 - - - SEMA3D 0 genome.wustl.edu 37 7 84649620 84649620 + Nonsense_Mutation SNP T T A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 7 84649620 84649620 T A SNP SEMA3D ENST00000284136 human ensembl 69_37n -1 known nonsense c.1432 p.K478* 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag 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 ENSG00000153993 248 0 0.00 231 32 12.12 - - - SMCR7L 0 genome.wustl.edu 37 22 39907907 39907907 + Silent SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 22 39907907 39907907 G A SNP SMCR7L ENST00000325301 human ensembl 69_37n +1 known silent c.198 p.S66 0.500 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 88 0 0.00 89 18 16.82 - - - SPP1 0 genome.wustl.edu 37 4 88901223 88901223 + Missense_Mutation SNP T T C TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 4 88901223 88901223 T C SNP SPP1 ENST00000395080 human ensembl 69_37n +1 known missense c.119 p.V40A 0.004 pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 272 0 0.00 185 109 36.95 - - - SSH1 0 genome.wustl.edu 37 12 109185905 109185905 + Nonsense_Mutation SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 12 109185905 109185905 G A SNP SSH1 ENST00000326470 human ensembl 69_37n -1 known nonsense c.2083 p.Q695* 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 55 0 0.00 50 35 41.18 - - - TNC 0 genome.wustl.edu 37 9 117840365 117840365 + Missense_Mutation SNP C C A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 9 117840365 117840365 C A SNP TNC ENST00000350763 human ensembl 69_37n -1 known missense c.2531 p.G844V 0.718 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 284 0 0.00 209 110 34.38 - - - TOX 0 genome.wustl.edu 37 8 59852038 59852038 + Silent SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 8 59852038 59852038 G A SNP TOX ENST00000361421 human ensembl 69_37n -1 known silent c.234 p.L78 0.995 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX HGNC ENSG00000198846 272 0 0.00 657 90 12.05 - - - TP53 0 genome.wustl.edu 37 17 7578509 7578509 + Missense_Mutation SNP A A G TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 17 7578509 7578509 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.421 p.C141R 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 146 1 0.68 40 47 54.02 - - - TRHDE 0 genome.wustl.edu 37 12 72667271 72667271 + Missense_Mutation SNP A A T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 12 72667271 72667271 A T SNP TRHDE ENST00000261180 human ensembl 69_37n +1 known missense c.713 p.N238I 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 29 0 0.00 28 11 28.21 - - - TRMT2A 0 genome.wustl.edu 37 22 20103765 20103765 + Missense_Mutation SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 22 20103765 20103765 G A SNP TRMT2A ENST00000252136 human ensembl 69_37n -1 known missense c.395 p.A132V 0.947 pfscan_RRM_dom pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 41 0 0.00 48 11 18.64 - - - TRPC5 0 genome.wustl.edu 37 X 111155832 111155832 + Missense_Mutation SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 X 111155832 111155832 C T SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known missense c.587 p.R196Q 0.997 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 200 2 0.99 152 62 28.84 - - - TTC31 0 genome.wustl.edu 37 2 74719773 74719773 + Missense_Mutation SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 2 74719773 74719773 C T SNP TTC31 ENST00000233623 human ensembl 69_37n +1 novel missense c.1162 p.R388C 0.923 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC31 HGNC ENSG00000115282 121 0 0.00 96 31 24.41 - - - VPS13C 0 genome.wustl.edu 37 15 62146723 62146723 + Missense_Mutation SNP G G A TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 15 62146723 62146723 G A SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.11195 p.T3732M 0.008 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 216 0 0.00 179 37 17.13 - - - ZP4 0 genome.wustl.edu 37 1 238048592 238048592 + Missense_Mutation SNP T T C TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba937e3d-30b7-4446-84fb-5f77831a4843 bfecb97d-fcf8-4508-8c7a-b2568f6e3972 1 238048592 238048592 T C SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known missense c.1184 p.Y395C 0.991 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 230 0 0.00 138 62 31.00 - - -