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 ABCB11 0 genome.wustl.edu 37 2 169870851 169870851 + Nonsense_Mutation SNP T T A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 2 169870851 169870851 T A SNP ABCB11 ENST00000263817 human ensembl 69_37n -1 known nonsense c.112 p.K38* 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 369 0 0.00 618 334 35.01 - - - ACO1 0 genome.wustl.edu 37 9 32431799 32431799 + Silent SNP T T C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 32431799 32431799 T C SNP ACO1 ENST00000309951 human ensembl 69_37n +1 known silent c.1809 p.Y603 0.804 superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 91 0 0.00 88 36 28.57 - - - ADAMTS17 0 genome.wustl.edu 37 15 100801723 100801723 + Missense_Mutation SNP T T C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 15 100801723 100801723 T C SNP ADAMTS17 ENST00000268070 human ensembl 69_37n -1 known missense c.992 p.D331G 0.999 pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 58 0 0.00 10 8 44.44 - - - AGPAT3 0 genome.wustl.edu 37 21 45400990 45400990 + Missense_Mutation SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 21 45400990 45400990 C A SNP AGPAT3 ENST00000291572 human ensembl 69_37n +1 known missense c.964 p.L322I 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors AGPAT3 HGNC ENSG00000160216 66 0 0.00 55 8 12.70 - - - AIFM3 0 genome.wustl.edu 37 22 21334332 21334332 + Missense_Mutation SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 22 21334332 21334332 C T SNP AIFM3 ENST00000399167 human ensembl 69_37n +1 known missense c.1676 p.A559V 1.000 superfamily_FAD/NAD-linked_Rdtase_dimer pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 39 0 0.00 6 9 60.00 - - - AKAP8L 0 genome.wustl.edu 37 19 15514361 15514361 + Missense_Mutation SNP T T A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 19 15514361 15514361 T A SNP AKAP8L ENST00000397410 human ensembl 69_37n -1 known missense c.287 p.N96I 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 94 0 0.00 26 11 29.73 - - - ALDH3B2 0 genome.wustl.edu 37 11 67433066 67433067 + Frame_Shift_Ins INS - - C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 11 67433066 67433067 - C INS ALDH3B2 ENST00000349015 human ensembl 69_37n -1 known frame_shift_ins c.396_395 p.K133fs 1.000:1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 65 0 0.00 21 3 12.50 - - - ARID1B 0 genome.wustl.edu 37 6 157488246 157488246 + Missense_Mutation SNP C C G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 6 157488246 157488246 C G SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known missense c.2913 p.N971K 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 57 0 0.00 17 14 45.16 - - - ASB6 0 genome.wustl.edu 37 9 132404204 132404204 + Missense_Mutation SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 132404204 132404204 C A SNP ASB6 ENST00000450050 human ensembl 69_37n -1 known missense c.20 p.W7L 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 13 0 0.00 4 6 60.00 - - - ATP1A4 0 genome.wustl.edu 37 1 160121911 160121911 + Missense_Mutation SNP G G C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 1 160121911 160121911 G C SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known missense c.81 p.K27N 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 139 0 0.00 119 92 43.40 - - - ATP4A 0 genome.wustl.edu 37 19 36054333 36054333 + Missense_Mutation SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 19 36054333 36054333 C T SNP ATP4A ENST00000262623 human ensembl 69_37n -1 known missense c.109 p.G37S 0.989 pfam_ATPase_P-typ_H/K-transp_N pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP4A HGNC ENSG00000105675 230 0 0.00 71 41 36.61 - - - C14orf180 0 genome.wustl.edu 37 14 105054102 105054103 + Frame_Shift_Ins INS - - C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 14 105054102 105054103 - C INS C14orf180 ENST00000410013 human ensembl 69_37n +1 known frame_shift_ins c.128_129 p.S46fs 0.035:0.048 NULL NULL - no_errors C14orf180 HGNC ENSG00000184601 49 0 0.00 14 3 17.65 - - - C17orf97 0 genome.wustl.edu 37 17 263747 263747 + Silent SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 17 263747 263747 C T SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known silent c.1113 p.A371 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 32 0 0.00 6 4 40.00 - - - C1QTNF5 0 genome.wustl.edu 37 11 119213687 119213688 + Frame_Shift_Ins INS - - G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 11 119213687 119213688 - G INS C1QTNF5 ENST00000449574 human ensembl 69_37n -1 known frame_shift_ins c.1151_1150 p.H384fs 0.000:0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt - no_errors MFRP Clone_based_vega_gene ENSG00000235718 9 0 0.00 4 2 33.33 - - - CAMK2A 0 genome.wustl.edu 37 5 149618306 149618306 + Silent SNP G G T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 5 149618306 149618306 G T SNP CAMK2A ENST00000398376 human ensembl 69_37n -1 known silent c.1023 p.S341 0.964 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 - no_errors CAMK2A HGNC ENSG00000070808 185 0 0.00 27 33 55.00 - - - CDCA7L 0 genome.wustl.edu 37 7 21942714 21942714 + Missense_Mutation SNP A A T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 7 21942714 21942714 A T SNP CDCA7L ENST00000406877 human ensembl 69_37n -1 known missense c.1216 p.C406S 1.000 pfam_Znf-4CXXC_R1 pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 69 0 0.00 26 5 16.13 - - - CDH9 0 genome.wustl.edu 37 5 26890538 26890538 + Missense_Mutation SNP T T C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 5 26890538 26890538 T C SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known missense c.1389 p.I463M 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 60 0 0.00 134 19 12.42 - - - CEMP1 0 genome.wustl.edu 37 16 2580811 2580811 + Silent SNP A A C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 16 2580811 2580811 A C SNP CEMP1 ENST00000382350 human ensembl 69_37n -1 known silent c.264 p.P88 0.000 NULL NULL - no_errors CEMP1 HGNC ENSG00000205923 29 0 0.00 10 7 41.18 - - - CFH 0 genome.wustl.edu 37 1 196683022 196683022 + Silent SNP A A T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 1 196683022 196683022 A T SNP CFH ENST00000367429 human ensembl 69_37n +1 known silent c.1494 p.G498 0.955 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 42 0 0.00 70 90 56.25 - - - COBLL1 0 genome.wustl.edu 37 2 165551133 165551133 + Silent SNP A A T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 2 165551133 165551133 A T SNP COBLL1 ENST00000194871 human ensembl 69_37n -1 known silent c.3084 p.P1028 0.000 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 83 0 0.00 53 15 22.06 - - - COL5A2 0 genome.wustl.edu 37 2 189943788 189943788 + Splice_Site SNP C C G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 2 189943788 189943788 C G SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known splice_site c.1005+1 e15+1 1.000 - - - no_errors COL5A2 HGNC ENSG00000204262 60 0 0.00 78 30 27.78 - - - CYP11B1 0 genome.wustl.edu 37 8 143961043 143961043 + Missense_Mutation SNP C C G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 8 143961043 143961043 C G SNP CYP11B1 ENST00000292427 human ensembl 69_37n -1 known missense c.187 p.D63H 0.067 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 41 0 0.00 5 15 75.00 - - - DCST1 0 genome.wustl.edu 37 1 155006974 155006974 + Missense_Mutation SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 1 155006974 155006974 C T SNP DCST1 ENST00000295542 human ensembl 69_37n +1 known missense c.125 p.P42L 0.920 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 70 0 0.00 20 4 16.00 - - - DNAJC28 0 genome.wustl.edu 37 21 34860854 34860854 + Missense_Mutation SNP T T C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 21 34860854 34860854 T C SNP DNAJC28 ENST00000314399 human ensembl 69_37n -1 known missense c.847 p.N283D 1.000 NULL pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC28 HGNC ENSG00000177692 140 0 0.00 169 51 23.18 - - - DYRK1B 0 genome.wustl.edu 37 19 40319129 40319129 + Missense_Mutation SNP G G C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 19 40319129 40319129 G C SNP DYRK1B ENST00000323039 human ensembl 69_37n -1 known missense c.615 p.H205Q 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,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1B HGNC ENSG00000105204 285 0 0.00 40 20 33.33 - - - DZIP1L 0 genome.wustl.edu 37 3 137783433 137783433 + Missense_Mutation SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 3 137783433 137783433 G A SNP DZIP1L ENST00000486487 human ensembl 69_37n -1 putative missense c.287 p.S96F 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DZIP1L HGNC ENSG00000158163 87 0 0.00 25 8 24.24 - - - FAM154A 0 genome.wustl.edu 37 9 18950827 18950827 + Silent SNP G G C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 18950827 18950827 G C SNP FAM154A ENST00000380534 human ensembl 69_37n -1 known silent c.147 p.P49 1.000 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 151 0 0.00 280 180 38.96 - - - FAM75A1 0 genome.wustl.edu 37 9 39361273 39361273 + Missense_Mutation SNP T T C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 39361273 39361273 T C SNP FAM75A1 ENST00000377647 human ensembl 69_37n +1 known missense c.3511 p.F1171L 0.000 NULL NULL - no_errors FAM75A1 HGNC ENSG00000204849 18 0 0.00 25 19 43.18 - - - FAM75D5 0 genome.wustl.edu 37 9 84531548 84531548 + RNA SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 84531548 84531548 C T SNP FAM75D5 ENST00000527857 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM75D5 HGNC ENSG00000240632 48 0 0.00 105 101 49.03 - - - FRG1B 0 genome.wustl.edu 37 20 29625985 29625985 + Splice_Site SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 20 29625985 29625985 G A SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known splice_site c.228+1 e3+1 1.000 - - - no_errors FRG1B HGNC ENSG00000149531 17 0 0.00 157 40 20.30 - - - GOLGA8B 0 genome.wustl.edu 37 15 34823738 34823738 + Missense_Mutation SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 15 34823738 34823738 G A SNP GOLGA8B ENST00000438958 human ensembl 69_37n -1 known missense c.485 p.T162I 0.008 NULL NULL - no_errors GOLGA8B HGNC ENSG00000215252 8 0 0.00 5 5 50.00 - - - GPRC6A 0 genome.wustl.edu 37 6 117128090 117128090 + Silent SNP G G T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 6 117128090 117128090 G T SNP GPRC6A ENST00000310357 human ensembl 69_37n -1 known silent c.778 p.R260 0.988 pfam_ANF_lig-bd_rcpt pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 299 0 0.00 279 64 18.66 - - - GTSE1 0 genome.wustl.edu 37 22 46704300 46704300 + Frame_Shift_Del DEL G G - TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 22 46704300 46704300 G - DEL GTSE1 ENST00000454366 human ensembl 69_37n +1 known frame_shift_del c.222 p.V75fs 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 34 0 0.00 12 30 69.77 - - - IARS2 0 genome.wustl.edu 37 1 220316439 220316439 + Missense_Mutation SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 1 220316439 220316439 C A SNP IARS2 ENST00000302637 human ensembl 69_37n +1 known missense c.2714 p.T905N 0.994 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS2 HGNC ENSG00000067704 186 0 0.00 242 28 10.37 - - - IGLV2-8 0 genome.wustl.edu 37 22 23165351 23165351 + Missense_Mutation SNP C C G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 22 23165351 23165351 C G SNP IGLV2-8 ENST00000390317 human ensembl 69_37n +1 known missense c.37 p.Q13E 0.013 NULL 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 IGLV2-8 HGNC ENSG00000211671 53 0 0.00 29 8 21.62 - - - IL22RA2 0 genome.wustl.edu 37 6 137466808 137466808 + Missense_Mutation SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 6 137466808 137466808 C A SNP IL22RA2 ENST00000296980 human ensembl 69_37n -1 known missense c.745 p.D249Y 0.603 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL22RA2 HGNC ENSG00000164485 250 0 0.00 361 74 16.97 - - - IL28RA 0 genome.wustl.edu 37 1 24488039 24488039 + Frame_Shift_Del DEL C C - TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 1 24488039 24488039 C - DEL IL28RA ENST00000327535 human ensembl 69_37n -1 known frame_shift_del c.503 p.G168fs 0.001 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL28RA HGNC ENSG00000185436 101 0 0.00 28 11 26.83 - - - ITGAX 0 genome.wustl.edu 37 16 31382656 31382656 + Missense_Mutation SNP A A G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 16 31382656 31382656 A G SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known missense c.1843 p.T615A 0.982 pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 52 0 0.00 11 5 31.25 - - - ITGB8 0 genome.wustl.edu 37 7 20431066 20431066 + Missense_Mutation SNP A A G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 7 20431066 20431066 A G SNP ITGB8 ENST00000222573 human ensembl 69_37n +1 known missense c.1001 p.D334G 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 189 0 0.00 133 139 50.73 - - - ITPR1 0 genome.wustl.edu 37 3 4699915 4699915 + Silent SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 3 4699915 4699915 C T SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known silent c.1059 p.F353 1.000 pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 269 0 0.00 53 419 88.40 - - - LAMA2 0 genome.wustl.edu 37 6 129468133 129468133 + Silent SNP T T A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 6 129468133 129468133 T A SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known silent c.849 p.V283 0.637 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 158 0 0.00 87 82 48.52 - - - LPIN2 0 genome.wustl.edu 37 18 2937724 2937724 + Silent SNP C C G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 18 2937724 2937724 C G SNP LPIN2 ENST00000261596 human ensembl 69_37n -1 known silent c.1134 p.P378 0.741 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 114 1 0.87 33 28 45.90 - - - MPEG1 0 genome.wustl.edu 37 11 58978653 58978653 + Silent SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 11 58978653 58978653 G A SNP MPEG1 ENST00000361050 human ensembl 69_37n -1 known silent c.1686 p.S562 1.000 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 75 0 0.00 25 7 21.88 - - - NAV3 0 genome.wustl.edu 37 12 78594278 78594278 + Missense_Mutation SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 12 78594278 78594278 C A SNP NAV3 ENST00000552895 human ensembl 69_37n +1 novel missense c.3358 p.H1120N 0.247 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NAV3 HGNC ENSG00000067798 119 0 0.00 220 137 38.38 - - - NWD1 0 genome.wustl.edu 37 19 16870120 16870120 + Silent SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 19 16870120 16870120 G A SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known silent c.1854 p.P618 0.206 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 83 0 0.00 14 12 46.15 - - - OR5H6 0 genome.wustl.edu 37 3 97984086 97984086 + Missense_Mutation SNP A A G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 3 97984086 97984086 A G SNP OR5H6 ENST00000383696 human ensembl 69_37n +1 known missense c.958 p.M320V 0.126 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 42 0 0.00 150 26 14.69 - - - OR6T1 0 genome.wustl.edu 37 11 123814411 123814411 + Silent SNP A A T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 11 123814411 123814411 A T SNP OR6T1 ENST00000321252 human ensembl 69_37n -1 known silent c.135 p.I45 0.035 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 101 0 0.00 34 50 59.52 - - - PGM5P2 0 genome.wustl.edu 37 9 69112951 69112951 + RNA SNP G G T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 69112951 69112951 G T SNP PGM5P2 ENST00000591037 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PGM5P2 HGNC ENSG00000227558 129 0 0.00 122 18 12.86 - - - PHYH 0 genome.wustl.edu 37 10 13325816 13325816 + Silent SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 10 13325816 13325816 G A SNP PHYH ENST00000263038 human ensembl 69_37n -1 known silent c.702 p.H234 0.987 pfam_Phytyl_CoA_dOase pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 168 0 0.00 155 96 38.25 - - - PKHD1L1 0 genome.wustl.edu 37 8 110503326 110503326 + Silent SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 8 110503326 110503326 G A SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known silent c.10110 p.G3370 0.994 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 56 0 0.00 113 31 21.09 - - - PLA1A 0 genome.wustl.edu 37 3 119336879 119336879 + Silent SNP G G C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 3 119336879 119336879 G C SNP PLA1A ENST00000273371 human ensembl 69_37n +1 known silent c.768 p.L256 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 284 0 0.00 79 101 56.11 - - - PLCB1 0 genome.wustl.edu 37 20 8637898 8637898 + Missense_Mutation SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 20 8637898 8637898 C A SNP PLCB1 ENST00000338037 human ensembl 69_37n +1 known missense c.662 p.P221H 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,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,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 138 1 0.72 131 67 33.84 - - - POLN 0 genome.wustl.edu 37 4 2087377 2087377 + Missense_Mutation SNP G G C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 4 2087377 2087377 G C SNP POLN ENST00000382865 human ensembl 69_37n -1 known missense c.2160 p.D720E 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 59 0 0.00 16 9 34.62 - - - PTGS1 0 genome.wustl.edu 37 9 125148912 125148912 + Missense_Mutation SNP G G C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 125148912 125148912 G C SNP PTGS1 ENST00000362012 human ensembl 69_37n +1 known missense c.1197 p.Q399H 0.043 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 144 0 0.00 53 6 10.00 - - - SLC4A10 0 genome.wustl.edu 37 2 162804110 162804110 + Missense_Mutation SNP G G C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 2 162804110 162804110 G C SNP SLC4A10 ENST00000446997 human ensembl 69_37n +1 known missense c.2138 p.R713P 1.000 pfam_HCO3_transpt_C,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 SLC4A10 HGNC ENSG00000144290 168 0 0.00 171 51 22.97 - - - SLC4A2 0 genome.wustl.edu 37 7 150767276 150767276 + Missense_Mutation SNP G G C TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 7 150767276 150767276 G C SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.1292 p.S431T 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_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 56 0 0.00 6 8 57.14 - - - SMC5 0 genome.wustl.edu 37 9 72959102 72959102 + Missense_Mutation SNP C C G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 72959102 72959102 C G SNP SMC5 ENST00000361138 human ensembl 69_37n +1 known missense c.2440 p.Q814E 0.995 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC - no_errors SMC5 HGNC ENSG00000198887 267 0 0.00 66 19 22.35 - - - SNORD100 0 genome.wustl.edu 37 6 133137948 133137950 + RNA DEL ATG ATG - TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 6 133137948 133137950 ATG - DEL SNORD100 ENST00000408573 human ensembl 69_37n +1 known rna NULL NULL 0.999:1.000:1.000 - - - no_errors SNORD100 HGNC ENSG00000221500 22 0 0.00 35 9 20.00 - - - SORCS1 0 genome.wustl.edu 37 10 108367018 108367018 + Missense_Mutation SNP A A T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 10 108367018 108367018 A T SNP SORCS1 ENST00000344440 human ensembl 69_37n -1 known missense c.3071 p.V1024E 0.998 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 103 0 0.00 14 11 44.00 - - - SPANXN4 0 genome.wustl.edu 37 X 142121829 142121829 + Missense_Mutation SNP A A G TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe X 142121829 142121829 A G SNP SPANXN4 ENST00000446864 human ensembl 69_37n +1 known missense c.97 p.R33G 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN4 HGNC ENSG00000189326 654 0 0.00 726 434 37.32 - - - TAS2R43 0 genome.wustl.edu 37 12 11244067 11244068 + Frame_Shift_Ins INS - - TT TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 12 11244067 11244068 - TT INS TAS2R43 ENST00000531678 human ensembl 69_37n -1 known frame_shift_ins c.762_761 p.S254fs 0.000:0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 94 0 0.00 53 10 15.87 - - - TGM3 0 genome.wustl.edu 37 20 2298032 2298032 + Missense_Mutation SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 20 2298032 2298032 C A SNP TGM3 ENST00000381458 human ensembl 69_37n +1 known missense c.884 p.T295N 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 178 0 0.00 31 20 39.22 - - - TMTC4 0 genome.wustl.edu 37 13 101316591 101316591 + Splice_Site SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 13 101316591 101316591 C A SNP TMTC4 ENST00000342624 human ensembl 69_37n -1 known splice_site c.220-1 e3-1 1.000 - - - no_errors TMTC4 HGNC ENSG00000125247 171 0 0.00 72 31 30.10 - - - TMTC4 0 genome.wustl.edu 37 13 101316592 101316592 + Splice_Site SNP T T A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 13 101316592 101316592 T A SNP TMTC4 ENST00000342624 human ensembl 69_37n -1 known splice_site c.220-2 e3-2 1.000 - - - no_errors TMTC4 HGNC ENSG00000125247 172 0 0.00 71 32 31.07 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 134 0 0.00 22 32 58.18 - - - WASF1 0 genome.wustl.edu 37 6 110422929 110422929 + Missense_Mutation SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 6 110422929 110422929 C T SNP WASF1 ENST00000359451 human ensembl 69_37n -1 known missense c.1384 p.A462T 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 504 1 0.20 174 163 47.52 - - - WDR35 0 genome.wustl.edu 37 2 20131080 20131080 + Nonsense_Mutation SNP C C A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 2 20131080 20131080 C A SNP WDR35 ENST00000345530 human ensembl 69_37n -1 known nonsense c.2947 p.E983* 0.987 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 340 0 0.00 373 69 15.61 - - - WIZ 0 genome.wustl.edu 37 19 15547847 15547847 + Missense_Mutation SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 19 15547847 15547847 C T SNP WIZ ENST00000389282 human ensembl 69_37n -1 known missense c.2366 p.R789Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 67 0 0.00 11 8 42.11 - - - ZBTB9 0 genome.wustl.edu 37 6 33423207 33423207 + Silent SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 6 33423207 33423207 G A SNP ZBTB9 ENST00000395064 human ensembl 69_37n +1 known silent c.330 p.L110 0.981 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 30 0 0.00 6 5 45.45 - - - ZFP161 0 genome.wustl.edu 37 18 5291511 5291511 + Silent SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 18 5291511 5291511 C T SNP ZFP161 ENST00000357006 human ensembl 69_37n -1 known silent c.696 p.G232 0.997 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZFP161 HGNC ENSG00000198081 46 0 0.00 15 22 59.46 - - - ZNF618 0 genome.wustl.edu 37 9 116750696 116750696 + Missense_Mutation SNP C C T TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 9 116750696 116750696 C T SNP ZNF618 ENST00000374126 human ensembl 69_37n +1 known missense c.173 p.T58M 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 137 1 0.72 36 8 18.18 - - - ZPLD1 0 genome.wustl.edu 37 3 102183084 102183084 + Missense_Mutation SNP T T A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84b66e02-1b37-4424-b752-363f7861fe74 e3d65145-2dc6-4be3-a3b9-b53940c920fe 3 102183084 102183084 T A SNP ZPLD1 ENST00000306176 human ensembl 69_37n +1 known missense c.798 p.D266E 0.958 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors ZPLD1 HGNC ENSG00000170044 295 0 0.00 175 215 55.13 - - -