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 ACY1 0 genome.wustl.edu 37 3 52019910 52019910 + Missense_Mutation SNP G G C TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 3 52019910 52019910 G C SNP ACY1 ENST00000458031 human ensembl 69_37n +1 known missense c.577 p.E193Q 0.543 pfam_Peptidase_M20,tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 66 0 0.00 108 34 23.94 - - - AMPD1 0 genome.wustl.edu 37 1 115226908 115226908 + Missense_Mutation SNP C C G TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 1 115226908 115226908 C G SNP AMPD1 ENST00000520113 human ensembl 69_37n -1 known missense c.558 p.K186N 0.999 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 122 0 0.00 112 21 15.79 - - - ANKRD31 0 genome.wustl.edu 37 5 74364415 74364415 + Missense_Mutation SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 74364415 74364415 C T SNP ANKRD31 ENST00000274361 human ensembl 69_37n -1 known missense c.5551 p.E1851K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD31 HGNC ENSG00000145700 279 0 0.00 307 339 52.48 - - - ARFGEF1 0 genome.wustl.edu 37 8 68178346 68178346 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 8 68178346 68178346 G A SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known missense c.2018 p.S673L 1.000 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 287 0 0.00 553 109 16.42 - - - ATP10B 0 genome.wustl.edu 37 5 160059363 160059363 + Missense_Mutation SNP C C G TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 160059363 160059363 C G SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.1393 p.E465Q 1.000 superfamily_HAD-like_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 ATP10B HGNC ENSG00000118322 61 0 0.00 47 23 32.86 - - - CARD6 0 genome.wustl.edu 37 5 40843622 40843622 + Missense_Mutation SNP G G C TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 40843622 40843622 G C SNP CARD6 ENST00000254691 human ensembl 69_37n +1 known missense c.652 p.V218L 0.001 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 83 0 0.00 123 38 23.60 - - - CCNB3 0 genome.wustl.edu 37 X 50089661 50089662 + Frame_Shift_Ins INS - - A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 X 50089661 50089662 - A INS CCNB3 ENST00000276014 human ensembl 69_37n +1 known frame_shift_ins c.3665_3666 p.P1223fs 0.933:0.937 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 104 0 0.00 189 22 10.43 - - - CD33 0 genome.wustl.edu 37 19 51738413 51738413 + Silent SNP G G T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 19 51738413 51738413 G T SNP CD33 ENST00000262262 human ensembl 69_37n +1 known silent c.747 p.G249 0.008 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD33 HGNC ENSG00000105383 141 0 0.00 133 36 21.30 - - - CIRBP 0 genome.wustl.edu 37 19 1272339 1272339 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 19 1272339 1272339 G A SNP CIRBP ENST00000444172 human ensembl 69_37n +1 known missense c.632 p.R211H 0.000 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 59 0 0.00 98 19 16.24 - - - CSF2RA 0 genome.wustl.edu 37 X 1407467 1407467 + Missense_Mutation SNP T T A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 X 1407467 1407467 T A SNP CSF2RA ENST00000417535 human ensembl 69_37n +1 known missense c.275 p.V92D 0.044 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 268 0 0.00 367 60 14.05 - - - CYP2C19 0 genome.wustl.edu 37 10 96580363 96580363 + Silent SNP C C A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 10 96580363 96580363 C A SNP CYP2C19 ENST00000371321 human ensembl 69_37n +1 known silent c.930 p.L310 0.001 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 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 CYP2C19 HGNC ENSG00000165841 178 0 0.00 240 82 25.31 - - - DDX41 0 genome.wustl.edu 37 5 176943429 176943429 + Missense_Mutation SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 176943429 176943429 C T SNP DDX41 ENST00000507955 human ensembl 69_37n -1 known missense c.158 p.R53Q 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 43 0 0.00 44 11 20.00 - - - DTX1 0 genome.wustl.edu 37 12 113532664 113532664 + Missense_Mutation SNP T T A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 12 113532664 113532664 T A SNP DTX1 ENST00000257600 human ensembl 69_37n +1 known missense c.1298 p.V433E 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 8 0 0.00 5 8 61.54 - - - EPHA7 0 genome.wustl.edu 37 6 94068126 94068126 + Missense_Mutation SNP C C A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 6 94068126 94068126 C A SNP EPHA7 ENST00000369303 human ensembl 69_37n -1 known missense c.836 p.C279F 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_ephrin_rcpt,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,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA7 HGNC ENSG00000135333 87 0 0.00 100 35 25.93 - - - F2RL2 0 genome.wustl.edu 37 5 75914384 75914384 + Missense_Mutation SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 75914384 75914384 C T SNP F2RL2 ENST00000296641 human ensembl 69_37n -1 known missense c.148 p.E50K 0.038 prints_Prot_act_rcpt_3 pfam_7TM_GPCR_Rhodpsn,prints_Prot_act_rcpt_3,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2RL2 HGNC ENSG00000164220 76 0 0.00 39 25 38.46 - - - FAM169B 0 genome.wustl.edu 37 15 98995099 98995099 + Missense_Mutation SNP C C A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 15 98995099 98995099 C A SNP FAM169B ENST00000332908 human ensembl 69_37n -1 known missense c.325 p.A109S 0.936 NULL NULL - no_errors FAM169B HGNC ENSG00000185087 23 0 0.00 25 15 37.50 - - - FAM169B 0 genome.wustl.edu 37 15 98995100 98995100 + Missense_Mutation SNP C C A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 15 98995100 98995100 C A SNP FAM169B ENST00000332908 human ensembl 69_37n -1 known missense c.324 p.E108D 0.299 NULL NULL - no_errors FAM169B HGNC ENSG00000185087 24 0 0.00 25 15 37.50 - - - FCGBP 0 genome.wustl.edu 37 19 40376680 40376680 + Nonsense_Mutation SNP G G T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 19 40376680 40376680 G T SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known nonsense c.11742 p.C3914* 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 74 0 0.00 142 28 16.37 - - - FRMPD4 0 genome.wustl.edu 37 X 12736883 12736883 + Missense_Mutation SNP G G T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 X 12736883 12736883 G T SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.3938 p.R1313L 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 43 0 0.00 68 32 32.00 - - - GMEB1 0 genome.wustl.edu 37 1 29023445 29023445 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 1 29023445 29023445 G A SNP GMEB1 ENST00000294409 human ensembl 69_37n +1 known missense c.477 p.M159I 1.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 85 0 0.00 107 16 13.01 - - - GPR98 0 genome.wustl.edu 37 5 90024745 90024745 + Missense_Mutation SNP T T G TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 90024745 90024745 T G SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.10421 p.F3474C 0.111 superfamily_Gal_Oxase/kelch_b-propeller,pfscan_EAR pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 89 0 0.00 90 17 15.89 - - - GRIK2 0 genome.wustl.edu 37 6 102074363 102074363 + Missense_Mutation SNP A A C TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 6 102074363 102074363 A C SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.392 p.Q131P 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 116 0 0.00 128 47 26.86 - - - GSTA4 0 genome.wustl.edu 37 6 52849324 52849324 + Nonsense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 6 52849324 52849324 G A SNP GSTA4 ENST00000370959 human ensembl 69_37n -1 known nonsense c.352 p.Q118* 0.080 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA4 HGNC ENSG00000170899 143 0 0.00 119 48 28.57 - - - GUCY1B3 0 genome.wustl.edu 37 4 156721140 156721140 + Silent SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 4 156721140 156721140 C T SNP GUCY1B3 ENST00000264424 human ensembl 69_37n +1 known silent c.1089 p.Y363 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 95 0 0.00 146 23 13.61 - - - HAUS4 0 genome.wustl.edu 37 14 23421871 23421871 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 14 23421871 23421871 G A SNP HAUS4 ENST00000206474 human ensembl 69_37n -1 known missense c.77 p.P26L 1.000 NULL NULL - no_errors HAUS4 HGNC ENSG00000092036 76 0 0.00 70 24 25.53 - - - HOXA5 0 genome.wustl.edu 37 7 27181585 27181585 + Missense_Mutation SNP T T C TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 7 27181585 27181585 T C SNP HOXA5 ENST00000222726 human ensembl 69_37n -1 known missense c.682 p.I228V 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 96 0 0.00 173 85 32.95 - - - IL13RA2 0 genome.wustl.edu 37 X 114244201 114244201 + Silent SNP A A C TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 X 114244201 114244201 A C SNP IL13RA2 ENST00000243213 human ensembl 69_37n -1 known silent c.735 p.T245 0.000 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 102 0 0.00 96 44 31.21 - - - IL17RD 0 genome.wustl.edu 37 3 57132384 57132384 + Silent SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 3 57132384 57132384 G A SNP IL17RD ENST00000296318 human ensembl 69_37n -1 known silent c.1347 p.L449 1.000 pfam_SEFIR pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 40 0 0.00 60 11 15.49 - - - ILF3 0 genome.wustl.edu 37 19 10781755 10781755 + Missense_Mutation SNP C C G TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 19 10781755 10781755 C G SNP ILF3 ENST00000449870 human ensembl 69_37n +1 known missense c.109 p.H37D 1.000 NULL pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors ILF3 HGNC ENSG00000129351 58 0 0.00 108 26 19.40 - - - ITGAE 0 genome.wustl.edu 37 17 3620003 3620003 + Silent SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 17 3620003 3620003 C T SNP ITGAE ENST00000263087 human ensembl 69_37n -1 known silent c.3423 p.V1141 0.192 prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAE HGNC ENSG00000083457 100 0 0.00 149 65 30.37 - - - KIRREL3 0 genome.wustl.edu 37 11 126396533 126396533 + Silent SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 11 126396533 126396533 C T SNP KIRREL3 ENST00000525144 human ensembl 69_37n -1 known silent c.183 p.S61 0.003 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL3 HGNC ENSG00000149571 75 0 0.00 110 21 15.91 - - - MED25 0 genome.wustl.edu 37 19 50322461 50322461 + Missense_Mutation SNP C C G TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 19 50322461 50322461 C G SNP MED25 ENST00000312865 human ensembl 69_37n +1 known missense c.213 p.F71L 1.000 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 47 0 0.00 80 27 25.23 - - - MPP6 0 genome.wustl.edu 37 7 24718895 24718895 + Silent SNP T T C TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 7 24718895 24718895 T C SNP MPP6 ENST00000222644 human ensembl 69_37n +1 known silent c.1260 p.D420 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP6 HGNC ENSG00000105926 142 0 0.00 206 29 12.34 - - - MSH5 0 genome.wustl.edu 37 6 31727737 31727737 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 6 31727737 31727737 G A SNP MSH5 ENST00000375742 human ensembl 69_37n +1 known missense c.1721 p.R574Q 0.977 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 46 0 0.00 116 32 21.62 - - - MTHFD1L 0 genome.wustl.edu 37 6 151334924 151334924 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 6 151334924 151334924 G A SNP MTHFD1L ENST00000367321 human ensembl 69_37n +1 known missense c.2275 p.G759S 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 204 0 0.00 265 86 24.50 - - - MUC4 0 genome.wustl.edu 37 3 195506421 195506421 + Silent SNP A A G TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 3 195506421 195506421 A G SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.12030 p.S4010 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 17 0 0.00 34 11 24.44 - - - NBEA 0 genome.wustl.edu 37 13 35517230 35517230 + Silent SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 13 35517230 35517230 C T SNP NBEA ENST00000310336 human ensembl 69_37n +1 known silent c.273 p.I91 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 17 0 0.00 19 22 53.66 - - - NCOA5 0 genome.wustl.edu 37 20 44692114 44692114 + Silent SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 20 44692114 44692114 G A SNP NCOA5 ENST00000290231 human ensembl 69_37n -1 known silent c.1035 p.L345 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 59 0 0.00 103 33 24.26 - - - OR51Q1 0 genome.wustl.edu 37 11 5444328 5444328 + Missense_Mutation SNP C C G TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 11 5444328 5444328 C G SNP OR51Q1 ENST00000300778 human ensembl 69_37n +1 known missense c.898 p.Q300E 1.000 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 OR51Q1 HGNC ENSG00000167360 41 0 0.00 40 6 13.04 - - - OR5R1 0 genome.wustl.edu 37 11 56185676 56185676 + Silent SNP T T C TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 11 56185676 56185676 T C SNP OR5R1 ENST00000312253 human ensembl 69_37n -1 known silent c.33 p.V11 0.353 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 48 0 0.00 42 11 20.75 - - - PCDHB14 0 genome.wustl.edu 37 5 140604455 140604455 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 140604455 140604455 G A SNP PCDHB14 ENST00000239449 human ensembl 69_37n +1 known missense c.1378 p.V460I 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 41 0 0.00 88 21 19.27 - - - PKD2L1 0 genome.wustl.edu 37 10 102054793 102054793 + Missense_Mutation SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 10 102054793 102054793 C T SNP PKD2L1 ENST00000318222 human ensembl 69_37n -1 known missense c.1444 p.V482I 0.495 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 76 0 0.00 137 21 13.29 - - - PKNOX2 0 genome.wustl.edu 37 11 125280153 125280153 + Missense_Mutation SNP T T C TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 11 125280153 125280153 T C SNP PKNOX2 ENST00000298282 human ensembl 69_37n +1 known missense c.650 p.V217A 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX2 HGNC ENSG00000165495 43 0 0.00 85 16 15.69 - - - PRPF6 0 genome.wustl.edu 37 20 62658961 62658961 + Silent SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 20 62658961 62658961 G A SNP PRPF6 ENST00000266079 human ensembl 69_37n +1 known silent c.2211 p.K737 1.000 smart_TPR_repeat,smart_HAT,pfscan_TPR-contain_dom pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 45 0 0.00 104 29 21.80 - - - PSG6 0 genome.wustl.edu 37 19 43411997 43411997 + Missense_Mutation SNP G G T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 19 43411997 43411997 G T SNP PSG6 ENST00000292125 human ensembl 69_37n -1 known missense c.716 p.P239H 0.002 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 179 0 0.00 331 53 13.77 - - - PTENP1 0 genome.wustl.edu 37 9 33676093 33676093 + RNA SNP A A T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 9 33676093 33676093 A T SNP PTENP1 ENST00000532280 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 187 0 0.00 154 27 14.92 - - - RASA2 0 genome.wustl.edu 37 3 141277776 141277776 + Nonsense_Mutation SNP G G T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 3 141277776 141277776 G T SNP RASA2 ENST00000452898 human ensembl 69_37n +1 known nonsense c.733 p.E245* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 125 0 0.00 100 20 16.67 - - - RBM6 0 genome.wustl.edu 37 3 50005657 50005657 + Missense_Mutation SNP C C A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 3 50005657 50005657 C A SNP RBM6 ENST00000266022 human ensembl 69_37n +1 known missense c.799 p.Q267K 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 99 0 0.00 144 22 13.25 - - - ROM1 0 genome.wustl.edu 37 11 62381062 62381062 + Silent SNP G G T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 11 62381062 62381062 G T SNP ROM1 ENST00000278833 human ensembl 69_37n +1 known silent c.309 p.L103 0.931 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 18 0 0.00 26 8 23.53 - - - SLC22A3 0 genome.wustl.edu 37 6 160858113 160858113 + Silent SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 6 160858113 160858113 G A SNP SLC22A3 ENST00000392145 human ensembl 69_37n +1 known silent c.1158 p.S386 0.984 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A3 HGNC ENSG00000146477 97 0 0.00 106 30 22.06 - - - SLC4A7 0 genome.wustl.edu 37 3 27418337 27418337 + Splice_Site SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 3 27418337 27418337 C T SNP SLC4A7 ENST00000454389 human ensembl 69_37n -1 known splice_site c.3699-1 e26-1 1.000 - - - no_errors SLC4A7 HGNC ENSG00000033867 214 0 0.00 96 37 27.82 - - - SPANXD 0 genome.wustl.edu 37 X 140786506 140786506 + Silent SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 X 140786506 140786506 G A SNP SPANXD ENST00000370515 human ensembl 69_37n -1 known silent c.57 p.N19 0.016 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXD HGNC ENSG00000196406 220 0 0.00 281 92 24.66 - - - SPATA9 0 genome.wustl.edu 37 5 95011246 95011246 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 95011246 95011246 G A SNP SPATA9 ENST00000274432 human ensembl 69_37n -1 known missense c.248 p.S83F 0.629 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 211 0 0.00 265 48 15.34 - - - TATDN3 0 genome.wustl.edu 37 1 212985604 212985604 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 1 212985604 212985604 G A SNP TATDN3 ENST00000526997 human ensembl 69_37n +1 putative missense c.499 p.E167K 1.000 pirsf_DNase_TatD pfam_TatD_superfamily,pirsf_DNase_TatD - no_errors TATDN3 HGNC ENSG00000203705 105 0 0.00 107 59 35.54 - - - TGFBRAP1 0 genome.wustl.edu 37 2 105897089 105897089 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 2 105897089 105897089 G A SNP TGFBRAP1 ENST00000258449 human ensembl 69_37n -1 known missense c.1213 p.H405Y 1.000 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 112 0 0.00 215 28 11.52 - - - TMCO6 0 genome.wustl.edu 37 5 140022500 140022500 + Missense_Mutation SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 140022500 140022500 C T SNP TMCO6 ENST00000252100 human ensembl 69_37n +1 known missense c.698 p.S233F 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 76 0 0.00 135 24 15.09 - - - VWA8 0 genome.wustl.edu 37 13 42149921 42149921 + Missense_Mutation SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 13 42149921 42149921 C T SNP VWA8 ENST00000379310 human ensembl 69_37n -1 known missense c.5325 p.M1775I 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 229 0 0.00 142 134 48.55 - - - WDR70 0 genome.wustl.edu 37 5 37605229 37605229 + Silent SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 5 37605229 37605229 G A SNP WDR70 ENST00000265107 human ensembl 69_37n +1 known silent c.981 p.T327 0.185 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 96 0 0.00 145 18 11.04 - - - XIRP1 0 genome.wustl.edu 37 3 39226889 39226889 + Missense_Mutation SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 3 39226889 39226889 G A SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known missense c.4048 p.P1350S 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 63 0 0.00 68 17 20.00 - - - ZC3HAV1 0 genome.wustl.edu 37 7 138764558 138764559 + Frame_Shift_Del DEL AC AC - TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 7 138764558 138764559 AC - DEL ZC3HAV1 ENST00000242351 human ensembl 69_37n -1 known frame_shift_del c.1129_1128 p.P379fs 0.043:0.036 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 73 0 0.00 89 15 14.42 - - - ZFHX3 0 genome.wustl.edu 37 16 72984482 72984482 + Silent SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 16 72984482 72984482 G A SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known silent c.3102 p.I1034 0.985 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 29 0 0.00 41 29 41.43 - - - ZKSCAN2 0 genome.wustl.edu 37 16 25266659 25266659 + Missense_Mutation SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 16 25266659 25266659 C T SNP ZKSCAN2 ENST00000328086 human ensembl 69_37n -1 known missense c.454 p.V152M 0.013 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZKSCAN2 HGNC ENSG00000155592 30 0 0.00 49 17 25.76 - - - ZNF780B 0 genome.wustl.edu 37 19 40541078 40541078 + Missense_Mutation SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83eaaca-ced5-4630-abb5-ef34db888753 ef3b19d2-804c-4f88-bfc7-b0057d166e81 19 40541078 40541078 C T SNP ZNF780B ENST00000434248 human ensembl 69_37n -1 known missense c.1688 p.G563E 1.000 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 ZNF780B HGNC ENSG00000128000 120 0 0.00 164 21 11.29 - - -