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 ABCA12 0 genome.wustl.edu 37 2 215843072 215843072 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 215843072 215843072 G T SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known missense c.5096 p.S1699Y 0.995 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 269 0 0.00 232 74 24.18 - - - ABCB1 0 genome.wustl.edu 37 7 87178828 87178828 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 7 87178828 87178828 C G SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known missense c.1561 p.D521H 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 360 0 0.00 145 62 29.81 - - - AGRN 0 genome.wustl.edu 37 1 987119 987120 + Frame_Shift_Ins INS - - T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 987119 987120 - T INS AGRN ENST00000379370 human ensembl 69_37n +1 known frame_shift_ins c.5575_5576 p.K1859fs 1.000:1.000 superfamily_ConA-like_lec_gl pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 9 0 0.00 7 3 30.00 - - - AKR1CL1 0 genome.wustl.edu 37 10 5200861 5200861 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 10 5200861 5200861 C A SNP AKR1CL1 ENST00000473890 human ensembl 69_37n -1 novel missense c.101 p.C34F 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 9 0 0.00 14 10 41.67 - - - ANKRD6 0 genome.wustl.edu 37 6 90337405 90337405 + Frame_Shift_Del DEL A A - TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 90337405 90337405 A - DEL ANKRD6 ENST00000339746 human ensembl 69_37n +1 known frame_shift_del c.1475 p.E492fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 117 0 0.00 39 11 22.00 - - - APOBEC4 0 genome.wustl.edu 37 1 183616996 183616996 + Silent SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 183616996 183616996 G T SNP APOBEC4 ENST00000308641 human ensembl 69_37n -1 known silent c.921 p.G307 0.007 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ENSG00000173627 153 0 0.00 75 102 57.63 - - - ASAP1 0 genome.wustl.edu 37 8 131172126 131172126 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 8 131172126 131172126 G A SNP ASAP1 ENST00000524124 human ensembl 69_37n -1 novel missense c.455 p.A152V 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ASAP1 HGNC ENSG00000153317 356 0 0.00 407 59 12.66 - - - ASZ1 0 genome.wustl.edu 37 7 117066908 117066908 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 7 117066908 117066908 G T SNP ASZ1 ENST00000284629 human ensembl 69_37n -1 known missense c.187 p.Q63K 0.009 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ASZ1 HGNC ENSG00000154438 92 0 0.00 90 11 10.89 - - - ATP6V1C1 0 genome.wustl.edu 37 8 104063354 104063354 + Silent SNP T T C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 8 104063354 104063354 T C SNP ATP6V1C1 ENST00000395862 human ensembl 69_37n +1 known silent c.363 p.I121 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C1 HGNC ENSG00000155097 130 0 0.00 163 49 23.11 - - - BANK1 0 genome.wustl.edu 37 4 102992432 102992432 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 4 102992432 102992432 A G SNP BANK1 ENST00000322953 human ensembl 69_37n +1 known missense c.2213 p.N738S 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 228 1 0.43 200 77 27.80 - - - BIRC6 0 genome.wustl.edu 37 2 32640645 32640645 + Silent SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 32640645 32640645 A G SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known silent c.2286 p.Q762 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 73 0 0.00 49 9 15.52 - - - BZW1 0 genome.wustl.edu 37 2 201682958 201682958 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 201682958 201682958 G A SNP BZW1 ENST00000409600 human ensembl 69_37n +1 known missense c.661 p.A221T 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 91 0 0.00 58 33 36.26 - - - C14orf105 0 genome.wustl.edu 37 14 57947351 57947351 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 14 57947351 57947351 A G SNP C14orf105 ENST00000216445 human ensembl 69_37n -1 known missense c.617 p.L206P 0.002 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 350 0 0.00 244 53 17.85 - - - C1orf186 0 genome.wustl.edu 37 1 206243207 206243207 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 206243207 206243207 G C SNP C1orf186 ENST00000331555 human ensembl 69_37n -1 known missense c.55 p.L19V 0.001 NULL NULL - no_errors C1orf186 HGNC ENSG00000196533 194 0 0.00 77 89 53.61 - - - C9orf11 0 genome.wustl.edu 37 9 27289729 27289729 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 9 27289729 27289729 G T SNP C9orf11 ENST00000380032 human ensembl 69_37n -1 known missense c.422 p.A141D 0.906 NULL NULL - no_errors C9orf11 HGNC ENSG00000120160 228 0 0.00 108 51 32.08 - - - CDHR2 0 genome.wustl.edu 37 5 176017576 176017576 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 176017576 176017576 A G SNP CDHR2 ENST00000261944 human ensembl 69_37n +1 known missense c.3427 p.S1143G 0.092 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 155 0 0.00 34 40 54.05 - - - CDHR2 0 genome.wustl.edu 37 5 176017577 176017577 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 176017577 176017577 G C SNP CDHR2 ENST00000261944 human ensembl 69_37n +1 known missense c.3428 p.S1143T 0.001 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 154 0 0.00 34 41 54.67 - - - CECR1 0 genome.wustl.edu 37 22 17690423 17690424 + Frame_Shift_Ins INS - - C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 22 17690423 17690424 - C INS CECR1 ENST00000262607 human ensembl 69_37n -1 known frame_shift_ins c.145_144 p.R48fs 0.036:0.052 pfam_A_deaminase_N,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 54 0 0.00 26 4 13.33 - - - CHD4 0 genome.wustl.edu 37 12 6709817 6709817 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 6709817 6709817 C G SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.946 p.D316H 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 105 0 0.00 70 45 39.13 - - - CLEC1A 0 genome.wustl.edu 37 12 10233932 10233932 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 10233932 10233932 C G SNP CLEC1A ENST00000315330 human ensembl 69_37n -1 known missense c.295 p.E99Q 0.014 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1A HGNC ENSG00000150048 224 1 0.44 277 32 10.36 - - - COG4 0 genome.wustl.edu 37 16 70516652 70516652 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 16 70516652 70516652 C T SNP COG4 ENST00000323786 human ensembl 69_37n -1 known missense c.1900 p.V634I 0.940 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 81 0 0.00 29 6 16.67 - - - CYP4F11 0 genome.wustl.edu 37 19 16038102 16038102 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 16038102 16038102 G A SNP CYP4F11 ENST00000248041 human ensembl 69_37n -1 known missense c.445 p.R149W 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 95 0 0.00 44 29 39.73 - - - DNAH7 0 genome.wustl.edu 37 2 196889189 196889189 + Missense_Mutation SNP T T A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 196889189 196889189 T A SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.707 p.D236V 0.959 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 299 0 0.00 281 89 24.05 - - - DNAH9 0 genome.wustl.edu 37 17 11687830 11687830 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 17 11687830 11687830 C T SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.8035 p.L2679F 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 177 1 0.56 53 32 37.65 - - - DNHD1 0 genome.wustl.edu 37 11 6566067 6566067 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 11 6566067 6566067 C T SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known missense c.3898 p.R1300C 0.077 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 161 0 0.00 37 28 43.08 - - - DOCK5 0 genome.wustl.edu 37 8 25149578 25149578 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 8 25149578 25149578 G A SNP DOCK5 ENST00000276440 human ensembl 69_37n +1 known missense c.360 p.M120I 1.000 NULL pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 151 0 0.00 70 30 30.00 - - - DROSHA 0 genome.wustl.edu 37 5 31526495 31526495 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 31526495 31526495 A G SNP DROSHA ENST00000344624 human ensembl 69_37n -1 known missense c.545 p.F182S 0.983 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 178 0 0.00 168 43 20.38 - - - EDC3 0 genome.wustl.edu 37 15 74925172 74925172 + Silent SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 15 74925172 74925172 C G SNP EDC3 ENST00000315127 human ensembl 69_37n -1 known silent c.1308 p.R436 1.000 pfam_YjeF_N,superfamily_YjeF_N pfam_YjeF_N,pfam_FDF_dom,superfamily_YjeF_N - no_errors EDC3 HGNC ENSG00000179151 107 0 0.00 28 27 49.09 - - - EML4 0 genome.wustl.edu 37 2 42557309 42557309 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 42557309 42557309 C A SNP EML4 ENST00000318522 human ensembl 69_37n +1 known missense c.2908 p.L970I 0.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 44 0 0.00 21 7 25.00 - - - EPC1 0 genome.wustl.edu 37 10 32576025 32576025 + Splice_Site SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 10 32576025 32576025 C A SNP EPC1 ENST00000263062 human ensembl 69_37n -1 known splice_site c.1152+1 e7+1 1.000 - - - no_errors EPC1 HGNC ENSG00000120616 130 0 0.00 110 14 11.29 - - - EPG5 0 genome.wustl.edu 37 18 43483981 43483981 + Silent SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 18 43483981 43483981 G C SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known silent c.4431 p.P1477 0.895 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 357 0 0.00 185 74 28.57 - - - EYA3 0 genome.wustl.edu 37 1 28339784 28339784 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 28339784 28339784 G C SNP EYA3 ENST00000373871 human ensembl 69_37n -1 known missense c.607 p.L203V 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 166 0 0.00 97 67 40.61 - - - FADS2 0 genome.wustl.edu 37 11 61615738 61615738 + Silent SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 11 61615738 61615738 C G SNP FADS2 ENST00000278840 human ensembl 69_37n +1 known silent c.726 p.G242 0.953 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5 - no_errors FADS2 HGNC ENSG00000134824 118 0 0.00 61 18 22.78 - - - FAM127B 0 genome.wustl.edu 37 X 134186077 134186077 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 X 134186077 134186077 C T SNP FAM127B ENST00000370775 human ensembl 69_37n -1 known missense c.62 p.R21H 0.491 NULL NULL - no_errors FAM127B HGNC ENSG00000203950 74 0 0.00 27 10 27.03 - - - FAM194B 0 genome.wustl.edu 37 13 46115738 46115738 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 13 46115738 46115738 C A SNP FAM194B ENST00000298738 human ensembl 69_37n -1 known missense c.1950 p.K650N 0.913 NULL NULL - no_errors FAM194B HGNC ENSG00000165837 291 0 0.00 184 41 18.22 - - - FAM21A 0 genome.wustl.edu 37 10 51887518 51887518 + Missense_Mutation SNP T T G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 10 51887518 51887518 T G SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.3050 p.L1017R 0.785 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 30 0 0.00 23 4 14.81 - - - FAM64A 0 genome.wustl.edu 37 17 6348481 6348481 + Silent SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 17 6348481 6348481 C G SNP FAM64A ENST00000250056 human ensembl 69_37n +1 known silent c.51 p.L17 0.001 pfam_DUF1466 pfam_DUF1466 - no_errors FAM64A HGNC ENSG00000129195 57 0 0.00 13 12 48.00 - - - FHOD3 0 genome.wustl.edu 37 18 34205515 34205516 + Frame_Shift_Ins INS - - C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 18 34205515 34205516 - C INS FHOD3 ENST00000257209 human ensembl 69_37n +1 known frame_shift_ins c.999_1000 p.S335fs 0.121:0.999 superfamily_ARM-type_fold pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 32 0 0.00 11 2 15.38 - - - FILIP1 0 genome.wustl.edu 37 6 76023420 76023420 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 76023420 76023420 A G SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known missense c.2128 p.F710L 0.253 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 173 0 0.00 145 20 12.12 - - - FRAS1 0 genome.wustl.edu 37 4 79322001 79322001 + Missense_Mutation SNP A A C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 4 79322001 79322001 A C SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known missense c.4089 p.E1363D 0.967 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 243 0 0.00 205 37 15.29 - - - GOLGA5 0 genome.wustl.edu 37 14 93275676 93275676 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 14 93275676 93275676 G C SNP GOLGA5 ENST00000163416 human ensembl 69_37n +1 known missense c.804 p.K268N 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 40 0 0.00 20 12 37.50 - - - GPLD1 0 genome.wustl.edu 37 6 24476481 24476481 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 24476481 24476481 G T SNP GPLD1 ENST00000230036 human ensembl 69_37n -1 known missense c.258 p.S86R 0.989 prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 151 1 0.65 95 14 12.84 - - - GRIN2A 0 genome.wustl.edu 37 16 10032157 10032157 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 16 10032157 10032157 G C SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.666 p.I222M 1.000 pfam_ANF_lig-bd_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 79 0 0.00 43 9 17.31 - - - HEG1 0 genome.wustl.edu 37 3 124732481 124732481 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 3 124732481 124732481 C A SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known missense c.1942 p.V648F 0.000 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 186 0 0.00 106 43 28.86 - - - HFM1 0 genome.wustl.edu 37 1 91788756 91788756 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 91788756 91788756 C A SNP HFM1 ENST00000370425 human ensembl 69_37n -1 known missense c.2428 p.V810F 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 45 0 0.00 92 22 19.30 - - - HIF1AN 0 genome.wustl.edu 37 10 102296311 102296311 + Silent SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 10 102296311 102296311 G A SNP HIF1AN ENST00000299163 human ensembl 69_37n +1 known silent c.321 p.K107 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC ENSG00000166135 101 0 0.00 47 33 40.74 - - - HIVEP1 0 genome.wustl.edu 37 6 12122400 12122400 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 12122400 12122400 C G SNP HIVEP1 ENST00000379388 human ensembl 69_37n +1 known missense c.2372 p.S791C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 96 0 0.00 67 30 30.93 - - - HJURP 0 genome.wustl.edu 37 2 234750428 234750428 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 234750428 234750428 C A SNP HJURP ENST00000411486 human ensembl 69_37n -1 known missense c.998 p.G333V 0.000 pfam_HJURP pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 117 0 0.00 59 10 14.49 - - - HSPB3 0 genome.wustl.edu 37 5 53751624 53751624 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 53751624 53751624 C T SNP HSPB3 ENST00000302005 human ensembl 69_37n +1 known missense c.5 p.A2V 1.000 NULL pfam_Hsp20,superfamily_HSP20-like_chaperone,pfscan_Hsp20,prints_Alpha-crystallin/HSP - no_errors HSPB3 HGNC ENSG00000169271 60 0 0.00 29 6 17.14 - - - HTR1E 0 genome.wustl.edu 37 6 87725567 87725567 + Missense_Mutation SNP A A T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 87725567 87725567 A T SNP HTR1E ENST00000305344 human ensembl 69_37n +1 known missense c.515 p.Q172L 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors HTR1E HGNC ENSG00000168830 89 0 0.00 28 13 31.71 - - - HYDIN 0 genome.wustl.edu 37 16 70969958 70969958 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 16 70969958 70969958 C T SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.7052 p.R2351Q 0.893 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 27 0 0.00 15 6 28.57 - - - IFNA14 0 genome.wustl.edu 37 9 21239901 21239901 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 9 21239901 21239901 C A SNP IFNA14 ENST00000380222 human ensembl 69_37n -1 known missense c.34 p.V12L 0.096 pfam_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA14 HGNC ENSG00000228083 149 0 0.00 95 15 13.64 - - - IGLV1-40 0 genome.wustl.edu 37 22 22764392 22764392 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 22 22764392 22764392 G C SNP IGLV1-40 ENST00000390299 human ensembl 69_37n +1 known missense c.134 p.S45T 0.219 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV1-40 HGNC ENSG00000211653 119 0 0.00 59 11 15.71 - - - IL4R 0 genome.wustl.edu 37 16 27367189 27367189 + Missense_Mutation SNP T T A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 16 27367189 27367189 T A SNP IL4R ENST00000170630 human ensembl 69_37n +1 known missense c.731 p.I244N 0.655 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 149 0 0.00 52 9 14.75 - - - ILVBL 0 genome.wustl.edu 37 19 15228790 15228790 + Missense_Mutation SNP A A T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 15228790 15228790 A T SNP ILVBL ENST00000263383 human ensembl 69_37n -1 known missense c.1088 p.V363D 1.000 pfam_Thiamin_PyroP_enz_cen_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 33 0 0.00 24 5 17.24 - - - KIAA0319 0 genome.wustl.edu 37 6 24596446 24596446 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 24596446 24596446 C G SNP KIAA0319 ENST00000378214 human ensembl 69_37n -1 known missense c.456 p.E152D 0.046 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 96 0 0.00 57 13 18.57 - - - KIAA1045 0 genome.wustl.edu 37 9 34971433 34971433 + Silent SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 9 34971433 34971433 C G SNP KIAA1045 ENST00000242315 human ensembl 69_37n +1 known silent c.138 p.G46 0.423 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 114 0 0.00 57 12 17.39 - - - KLF7 0 genome.wustl.edu 37 2 207945962 207945962 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 207945962 207945962 G C SNP KLF7 ENST00000309446 human ensembl 69_37n -1 known missense c.884 p.A295G 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF7 HGNC ENSG00000118263 307 0 0.00 222 30 11.90 - - - KLK1 0 genome.wustl.edu 37 19 51323272 51323272 + Silent SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 51323272 51323272 G A SNP KLK1 ENST00000301420 human ensembl 69_37n -1 known silent c.516 p.L172 0.895 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 KLK1 HGNC ENSG00000167748 50 0 0.00 20 10 33.33 - - - LDOC1L 0 genome.wustl.edu 37 22 44893163 44893163 + Nonsense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 22 44893163 44893163 G A SNP LDOC1L ENST00000341255 human ensembl 69_37n -1 known nonsense c.274 p.R92* 0.084 NULL NULL - no_errors LDOC1L HGNC ENSG00000188636 164 1 0.60 46 12 20.69 - - - LMTK2 0 genome.wustl.edu 37 7 97822389 97822389 + Nonsense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 7 97822389 97822389 C G SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known nonsense c.2612 p.S871* 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 49 0 0.00 26 7 21.21 - - - LONRF1 0 genome.wustl.edu 37 8 12594303 12594303 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 8 12594303 12594303 G A SNP LONRF1 ENST00000398246 human ensembl 69_37n -1 known missense c.1358 p.T453I 0.566 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 108 0 0.00 67 16 19.28 - - - LRP2 0 genome.wustl.edu 37 2 170177303 170177303 + Silent SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 170177303 170177303 C A SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known silent c.171 p.A57 0.002 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 181 0 0.00 80 56 41.18 - - - MC2R 0 genome.wustl.edu 37 18 13885460 13885460 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 18 13885460 13885460 C G SNP MC2R ENST00000327606 human ensembl 69_37n -1 known missense c.58 p.D20H 0.997 prints_ACTH_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 149 0 0.00 111 28 20.14 - - - MCTP2 0 genome.wustl.edu 37 15 94882595 94882595 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 15 94882595 94882595 G C SNP MCTP2 ENST00000357742 human ensembl 69_37n +1 known missense c.714 p.L238F 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC ENSG00000140563 74 0 0.00 66 9 12.00 - - - MDP1 0 genome.wustl.edu 37 14 24683340 24683340 + Missense_Mutation SNP T T C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 14 24683340 24683340 T C SNP MDP1 ENST00000288087 human ensembl 69_37n -1 known missense c.421 p.I141V 0.135 pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC - no_errors MDP1 HGNC ENSG00000213920 64 0 0.00 32 28 46.67 - - - MECP2 0 genome.wustl.edu 37 X 153297782 153297782 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 X 153297782 153297782 G A SNP MECP2 ENST00000303391 human ensembl 69_37n -1 known missense c.253 p.R85C 1.000 superfamily_DNA-bd_integrase-typ,pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 62 0 0.00 21 8 25.81 - - - MLL3 0 genome.wustl.edu 37 7 152012412 152012412 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 7 152012412 152012412 C T SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.401 p.C134Y 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 176 1 0.56 101 58 36.48 - - - MORC1 0 genome.wustl.edu 37 3 108819288 108819288 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 3 108819288 108819288 C G SNP MORC1 ENST00000232603 human ensembl 69_37n -1 known missense c.290 p.G97A 1.000 superfamily_ATPase-like_ATP-bd pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 692 0 0.00 420 178 29.77 - - - MYH4 0 genome.wustl.edu 37 17 10355263 10355263 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 17 10355263 10355263 C A SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known missense c.3733 p.A1245S 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 91 0 0.00 50 13 20.31 - - - MYO10 0 genome.wustl.edu 37 5 16680191 16680191 + Nonsense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 16680191 16680191 G C SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known nonsense c.4407 p.Y1469* 0.990 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 68 0 0.00 57 13 18.57 - - - NCKAP5 0 genome.wustl.edu 37 2 133887640 133887640 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 133887640 133887640 C G SNP NCKAP5 ENST00000317721 human ensembl 69_37n -1 known missense c.251 p.R84P 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 179 0 0.00 107 57 34.76 - - - NDC80 0 genome.wustl.edu 37 18 2601425 2601425 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 18 2601425 2601425 G C SNP NDC80 ENST00000261597 human ensembl 69_37n +1 known missense c.1405 p.E469Q 1.000 superfamily_t-SNARE pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 89 0 0.00 81 16 16.49 - - - NOTCH3 0 genome.wustl.edu 37 19 15276281 15276281 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 15276281 15276281 C G SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known missense c.5713 p.D1905H 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 110 0 0.00 43 17 28.33 - - - NRAP 0 genome.wustl.edu 37 10 115348779 115348779 + Silent SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 10 115348779 115348779 G T SNP NRAP ENST00000369358 human ensembl 69_37n -1 known silent c.5172 p.A1724 0.951 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 108 0 0.00 31 20 39.22 - - - OR14I1 0 genome.wustl.edu 37 1 248844691 248844691 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 248844691 248844691 C A SNP OR14I1 ENST00000342623 human ensembl 69_37n -1 known missense c.915 p.K305N 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 82 0 0.00 82 29 26.13 - - - OR4X2 0 genome.wustl.edu 37 11 48266965 48266965 + Missense_Mutation SNP A A T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 11 48266965 48266965 A T SNP OR4X2 ENST00000302329 human ensembl 69_37n +1 known missense c.310 p.I104F 0.268 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 OR4X2 HGNC ENSG00000172208 126 1 0.79 97 25 20.49 - - - OTUD1 0 genome.wustl.edu 37 10 23729805 23729805 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 10 23729805 23729805 G T SNP OTUD1 ENST00000376495 human ensembl 69_37n +1 known missense c.1419 p.M473I 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD1 HGNC ENSG00000165312 62 0 0.00 23 4 14.81 - - - PCED1B 0 genome.wustl.edu 37 12 47629748 47629748 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 47629748 47629748 C A SNP PCED1B ENST00000432328 human ensembl 69_37n +1 known missense c.902 p.P301H 0.007 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 69 0 0.00 29 15 34.09 - - - PDXDC2P 0 genome.wustl.edu 37 16 70058537 70058537 + RNA SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 16 70058537 70058537 C G SNP PDXDC2P ENST00000529089 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 304 2 0.65 153 60 28.17 - - - PLCZ1 0 genome.wustl.edu 37 12 18837202 18837202 + Nonsense_Mutation SNP T T A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 18837202 18837202 T A SNP PLCZ1 ENST00000266505 human ensembl 69_37n -1 known nonsense c.1603 p.R535* 0.958 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 150 0 0.00 140 26 15.66 - - - PLEKHG2 0 genome.wustl.edu 37 19 39914678 39914678 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 39914678 39914678 C A SNP PLEKHG2 ENST00000409794 human ensembl 69_37n +1 known missense c.2905 p.L969I 0.016 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 74 0 0.00 31 11 26.19 - - - PLXNA2 0 genome.wustl.edu 37 1 208390491 208390491 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 208390491 208390491 C G SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known missense c.777 p.Q259H 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 116 0 0.00 93 11 10.58 - - - PM20D2 0 genome.wustl.edu 37 6 89859096 89859096 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 89859096 89859096 A G SNP PM20D2 ENST00000275072 human ensembl 69_37n +1 known missense c.578 p.E193G 1.000 pfam_Peptidase_M20,pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 145 0 0.00 65 19 22.62 - - - PPP1R15B 0 genome.wustl.edu 37 1 204379199 204379199 + Missense_Mutation SNP A A T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 204379199 204379199 A T SNP PPP1R15B ENST00000367188 human ensembl 69_37n -1 known missense c.1341 p.D447E 0.384 pfam_Prot_Pase1_reg-su15A/B_C pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15B HGNC ENSG00000158615 23 0 0.00 18 11 37.93 - - - PRB3 0 genome.wustl.edu 37 12 11420173 11420173 + Nonsense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 11420173 11420173 G A SNP PRB3 ENST00000381842 human ensembl 69_37n -1 known nonsense c.883 p.Q295* 0.003 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 614 0 0.00 426 199 31.74 - - - PREX2 0 genome.wustl.edu 37 8 69033181 69033181 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 8 69033181 69033181 G C SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.3621 p.K1207N 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 144 0 0.00 75 13 14.77 - - - PRKAA2 0 genome.wustl.edu 37 1 57159438 57159438 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 57159438 57159438 G T SNP PRKAA2 ENST00000371244 human ensembl 69_37n +1 known missense c.476 p.G159V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA2 HGNC ENSG00000162409 166 1 0.60 190 24 11.21 - - - PSD2 0 genome.wustl.edu 37 5 139193032 139193032 + Silent SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 139193032 139193032 C T SNP PSD2 ENST00000274710 human ensembl 69_37n +1 known silent c.510 p.S170 0.490 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD2 HGNC ENSG00000146005 52 0 0.00 19 16 45.71 - - - PSG11 0 genome.wustl.edu 37 19 43529167 43529167 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 43529167 43529167 C A SNP PSG11 ENST00000320078 human ensembl 69_37n -1 known missense c.106 p.V36F 0.031 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC ENSG00000243130 337 0 0.00 152 178 53.78 - - - PXDNL 0 genome.wustl.edu 37 8 52384808 52384808 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 8 52384808 52384808 C T SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known missense c.751 p.V251I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDNL HGNC ENSG00000147485 198 0 0.00 108 36 25.00 - - - RAD51 0 genome.wustl.edu 37 15 41022086 41022086 + Silent SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 15 41022086 41022086 A G SNP RAD51 ENST00000382643 human ensembl 69_37n +1 known silent c.813 p.V271 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51 - no_errors RAD51 HGNC ENSG00000051180 95 0 0.00 43 26 37.68 - - - RPL41 0 genome.wustl.edu 37 12 56511292 56511292 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 56511292 56511292 G C SNP RPL41 ENST00000501597 human ensembl 69_37n +1 known missense c.62 p.R21T 1.000 pfam_Ribosomal_L41 pfam_Ribosomal_L41 - no_errors RPL41 HGNC ENSG00000229117 140 0 0.00 67 63 48.46 - - - SATL1 0 genome.wustl.edu 37 X 84363426 84363426 + Silent SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 X 84363426 84363426 C T SNP SATL1 ENST00000509231 human ensembl 69_37n -1 known silent c.549 p.L183 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 294 0 0.00 170 60 26.09 - - - SCN10A 0 genome.wustl.edu 37 3 38764954 38764954 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 3 38764954 38764954 C G SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.3319 p.D1107H 0.074 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 168 0 0.00 35 23 39.66 - - - SDK2 0 genome.wustl.edu 37 17 71375645 71375645 + Nonsense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 17 71375645 71375645 G T SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known nonsense c.4806 p.Y1602* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 47 0 0.00 17 7 29.17 - - - SIK1 0 genome.wustl.edu 37 21 44839340 44839340 + Frame_Shift_Del DEL A A - TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 21 44839340 44839340 A - DEL SIK1 ENST00000270162 human ensembl 69_37n -1 known frame_shift_del c.1138 p.S380fs 0.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 34 0 0.00 10 2 16.67 - - - SLC15A1 0 genome.wustl.edu 37 13 99339888 99339888 + Missense_Mutation SNP T T A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 13 99339888 99339888 T A SNP SLC15A1 ENST00000376503 human ensembl 69_37n -1 known missense c.1774 p.T592S 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport - no_errors SLC15A1 HGNC ENSG00000088386 111 0 0.00 66 42 38.53 - - - SLC15A5 0 genome.wustl.edu 37 12 16397579 16397579 + Missense_Mutation SNP T T A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 16397579 16397579 T A SNP SLC15A5 ENST00000344941 human ensembl 69_37n -1 novel missense c.910 p.T304S 0.014 pfam_Oligopeptide_transporter pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 149 0 0.00 83 34 29.06 - - - SLC22A25 0 genome.wustl.edu 37 11 62951206 62951206 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 11 62951206 62951206 C T SNP SLC22A25 ENST00000306494 human ensembl 69_37n -1 known missense c.914 p.R305K 0.006 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 324 0 0.00 258 146 36.14 - - - SLC39A6 0 genome.wustl.edu 37 18 33691090 33691090 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 18 33691090 33691090 C G SNP SLC39A6 ENST00000269187 human ensembl 69_37n -1 known missense c.2047 p.E683Q 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 125 0 0.00 58 39 39.80 - - - SLC45A2 0 genome.wustl.edu 37 5 33982475 33982475 + Missense_Mutation SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 33982475 33982475 C T SNP SLC45A2 ENST00000296589 human ensembl 69_37n -1 known missense c.428 p.S143N 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 329 1 0.30 267 85 24.15 - - - SLC4A8 0 genome.wustl.edu 37 12 51851241 51851241 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 51851241 51851241 G T SNP SLC4A8 ENST00000453097 human ensembl 69_37n +1 known missense c.681 p.K227N 1.000 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 256 0 0.00 169 51 23.18 - - - SLFN5 0 genome.wustl.edu 37 17 33592271 33592271 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 17 33592271 33592271 G C SNP SLFN5 ENST00000299977 human ensembl 69_37n +1 known missense c.2040 p.W680C 1.000 pfam_DUF2075 pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC ENSG00000166750 131 0 0.00 63 36 36.36 - - - SMG1 0 genome.wustl.edu 37 16 18863734 18863734 + Silent SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 16 18863734 18863734 G A SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known silent c.4819 p.L1607 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 181 0 0.00 90 21 18.92 - - - SMTN 0 genome.wustl.edu 37 22 31484908 31484908 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 22 31484908 31484908 A G SNP SMTN ENST00000347557 human ensembl 69_37n +1 known missense c.424 p.R142G 0.308 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 168 1 0.59 51 33 39.29 - - - SNORA36B 0 genome.wustl.edu 37 1 220373935 220373935 + RNA SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 220373935 220373935 C A SNP SNORA36B ENST00000410438 human ensembl 69_37n -1 known rna NULL NULL 0.970 - - - no_errors SNORA36B HGNC ENSG00000222370 177 0 0.00 203 39 16.12 - - - SQSTM1 0 genome.wustl.edu 37 5 179251050 179251050 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 179251050 179251050 A G SNP SQSTM1 ENST00000389805 human ensembl 69_37n +1 known missense c.494 p.K165R 1.000 smart_Znf_ZZ,pfscan_Znf_ZZ pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 29 0 0.00 4 6 60.00 - - - SRGAP1 0 genome.wustl.edu 37 12 64502729 64502729 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 64502729 64502729 G C SNP SRGAP1 ENST00000355086 human ensembl 69_37n +1 known missense c.1831 p.E611Q 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 219 0 0.00 101 71 41.28 - - - ST8SIA1 0 genome.wustl.edu 37 12 22440177 22440177 + Missense_Mutation SNP T T A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 12 22440177 22440177 T A SNP ST8SIA1 ENST00000396037 human ensembl 69_37n -1 known missense c.287 p.K96I 0.997 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 120 0 0.00 64 27 29.67 - - - STEAP4 0 genome.wustl.edu 37 7 87913447 87913447 + Silent SNP A A T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 7 87913447 87913447 A T SNP STEAP4 ENST00000380079 human ensembl 69_37n -1 known silent c.138 p.V46 0.642 pfam_NADP_OxRdtase_F420 pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420 - no_errors STEAP4 HGNC ENSG00000127954 73 0 0.00 54 28 34.15 - - - TAF5L 0 genome.wustl.edu 37 1 229738621 229738621 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 1 229738621 229738621 G C SNP TAF5L ENST00000258281 human ensembl 69_37n -1 known missense c.293 p.P98R 1.000 pfam_TFIID-su_WD40-assoc_reg pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5L HGNC ENSG00000135801 41 0 0.00 43 6 12.24 - - - TCP11 0 genome.wustl.edu 37 6 35108559 35108560 + Frame_Shift_Ins INS - - G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 35108559 35108560 - G INS TCP11 ENST00000311875 human ensembl 69_37n -1 known frame_shift_ins c.128_127 p.Q43fs 0.000:0.004 NULL pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 33 0 0.00 20 4 16.67 - - - TEX34 0 genome.wustl.edu 37 17 43333760 43333760 + Missense_Mutation SNP T T C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 17 43333760 43333760 T C SNP TEX34 ENST00000331780 human ensembl 69_37n -1 known missense c.91 p.I31V 0.000 NULL NULL - no_errors TEX34 HGNC ENSG00000184361 234 0 0.00 76 40 34.48 - - - TGM7 0 genome.wustl.edu 37 15 43584967 43584967 + Missense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 15 43584967 43584967 C A SNP TGM7 ENST00000452443 human ensembl 69_37n -1 known missense c.379 p.G127C 0.003 superfamily_Ig_E-set pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 29 0 0.00 26 7 21.21 - - - THAP8 0 genome.wustl.edu 37 19 36526357 36526357 + Silent SNP C C T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 36526357 36526357 C T SNP THAP8 ENST00000292894 human ensembl 69_37n -1 known silent c.810 p.R270 0.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP8 HGNC ENSG00000161277 103 0 0.00 94 19 16.81 - - - TLE6 0 genome.wustl.edu 37 19 2993572 2993572 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 2993572 2993572 C G SNP TLE6 ENST00000246112 human ensembl 69_37n +1 known missense c.1529 p.S510C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 70 0 0.00 15 13 46.43 - - - TNC 0 genome.wustl.edu 37 9 117825311 117825311 + Silent SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 9 117825311 117825311 G A SNP TNC ENST00000350763 human ensembl 69_37n -1 known silent c.3918 p.G1306 0.999 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 116 0 0.00 59 8 11.94 - - - TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.659 p.Y220C 0.998 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 367 1 0.27 161 124 43.51 - - - TRAF1 0 genome.wustl.edu 37 9 123671534 123671534 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 9 123671534 123671534 G C SNP TRAF1 ENST00000373887 human ensembl 69_37n -1 known missense c.1006 p.L336V 0.997 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 70 0 0.00 16 14 46.67 - - - TRPC7 0 genome.wustl.edu 37 5 135692811 135692811 + Nonsense_Mutation SNP C C A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 5 135692811 135692811 C A SNP TRPC7 ENST00000513104 human ensembl 69_37n -1 known nonsense c.265 p.E89* 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 53 0 0.00 8 5 38.46 - - - TTLL13 0 genome.wustl.edu 37 15 90799441 90799441 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 15 90799441 90799441 G A SNP TTLL13 ENST00000438251 human ensembl 69_37n +1 known missense c.617 p.G206D 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL13 HGNC ENSG00000213471 120 0 0.00 29 30 50.85 - - - TTN 0 genome.wustl.edu 37 2 179479664 179479664 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 179479664 179479664 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.40966 p.W13656R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 181 0 0.00 131 59 31.05 - - - TTN 0 genome.wustl.edu 37 2 179549456 179549456 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 2 179549456 179549456 G C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.28843 p.P9615A 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 207 0 0.00 236 36 13.24 - - - UTRN 0 genome.wustl.edu 37 6 145167956 145167956 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 6 145167956 145167956 G C SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.10286 p.R3429T 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 114 0 0.00 69 17 19.77 - - - VSTM2A 0 genome.wustl.edu 37 7 54636842 54636842 + Missense_Mutation SNP T T C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 7 54636842 54636842 T C SNP VSTM2A ENST00000404951 human ensembl 69_37n +1 putative missense c.860 p.V287A 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2A HGNC ENSG00000170419 138 0 0.00 120 63 34.43 - - - WDHD1 0 genome.wustl.edu 37 14 55411098 55411098 + Silent SNP T T G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 14 55411098 55411098 T G SNP WDHD1 ENST00000360586 human ensembl 69_37n -1 known silent c.3141 p.I1047 1.000 superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 253 1 0.39 205 36 14.94 - - - WDR52 0 genome.wustl.edu 37 3 113063398 113063398 + Missense_Mutation SNP T T G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 3 113063398 113063398 T G SNP WDR52 ENST00000393845 human ensembl 69_37n -1 known missense c.3227 p.E1076A 0.977 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 439 0 0.00 335 46 12.07 - - - XPA 0 genome.wustl.edu 37 9 100437634 100437634 + RNA DEL T T - TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 9 100437634 100437634 T - DEL XPA ENST00000485042 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors XPA HGNC ENSG00000136936 21 0 0.00 20 3 13.04 - - - ZC3H12B 0 genome.wustl.edu 37 X 64722721 64722721 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 X 64722721 64722721 G A SNP ZC3H12B ENST00000338957 human ensembl 69_37n +1 known missense c.2143 p.V715M 0.475 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 187 0 0.00 60 22 26.83 - - - ZCWPW1 0 genome.wustl.edu 37 7 100013966 100013966 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 7 100013966 100013966 G T SNP ZCWPW1 ENST00000398027 human ensembl 69_37n -1 known missense c.593 p.S198Y 0.000 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 84 0 0.00 103 28 21.37 - - - ZFPM2 0 genome.wustl.edu 37 8 106646518 106646518 + Missense_Mutation SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 8 106646518 106646518 G T SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.465 p.K155N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 207 0 0.00 113 41 26.62 - - - ZNF101 0 genome.wustl.edu 37 19 19790898 19790898 + Missense_Mutation SNP A A T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 19790898 19790898 A T SNP ZNF101 ENST00000318110 human ensembl 69_37n +1 known missense c.1100 p.E367V 0.031 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 ZNF101 HGNC ENSG00000181896 135 0 0.00 120 65 35.14 - - - ZNF208 0 genome.wustl.edu 37 19 22155945 22155945 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 22155945 22155945 G A SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known missense c.1891 p.H631Y 0.854 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 ZNF208 HGNC ENSG00000160321 218 0 0.00 235 41 14.86 - - - ZNF646 0 genome.wustl.edu 37 16 31092572 31092572 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 16 31092572 31092572 G C SNP ZNF646 ENST00000300850 human ensembl 69_37n +1 known missense c.4927 p.E1643Q 0.004 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 70 0 0.00 21 16 43.24 - - - ZNF75D 0 genome.wustl.edu 37 X 134427720 134427720 + Missense_Mutation SNP T T G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 X 134427720 134427720 T G SNP ZNF75D ENST00000370766 human ensembl 69_37n -1 known missense c.347 p.N116T 0.268 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZNF75D HGNC ENSG00000186376 114 0 0.00 52 16 23.53 - - - ZNF841 0 genome.wustl.edu 37 19 52568812 52568812 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c63f9ddb-6301-400e-a0e8-197eea2efe75 aa5b770f-1e5f-459b-8ef5-cfbbb5ecd737 19 52568812 52568812 G A SNP ZNF841 ENST00000389534 human ensembl 69_37n -1 known missense c.2323 p.R775C 0.000 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 ZNF841 HGNC ENSG00000197608 56 0 0.00 31 16 34.04 - - -