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 ABCB1 0 genome.wustl.edu 37 7 87225124 87225124 + Silent SNP T T C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 87225124 87225124 T C SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known silent c.75 p.K25 0.998 NULL 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 112 0 0.00 148 25 14.45 - - - ACTRT1 0 genome.wustl.edu 37 X 127185866 127185866 + Missense_Mutation SNP A A G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 127185866 127185866 A G SNP ACTRT1 ENST00000371124 human ensembl 69_37n -1 known missense c.320 p.L107P 0.998 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTRT1 HGNC ENSG00000123165 206 0 0.00 186 30 13.89 - - - ADCY3 0 genome.wustl.edu 37 2 25065185 25065185 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 2 25065185 25065185 G A SNP ADCY3 ENST00000260600 human ensembl 69_37n -1 known silent c.894 p.D298 0.898 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 443 0 0.00 393 61 13.44 - - - AK5 0 genome.wustl.edu 37 1 77883374 77883374 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 77883374 77883374 G A SNP AK5 ENST00000354567 human ensembl 69_37n +1 known missense c.1033 p.D345N 0.487 NULL pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 204 0 0.00 139 35 20.11 - - - AKAP4 0 genome.wustl.edu 37 X 49957750 49957750 + Missense_Mutation SNP A A T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 49957750 49957750 A T SNP AKAP4 ENST00000358526 human ensembl 69_37n -1 known missense c.1614 p.D538E 0.999 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 228 0 0.00 204 49 19.37 - - - AKAP6 0 genome.wustl.edu 37 14 33293371 33293371 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 14 33293371 33293371 C G SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known missense c.6352 p.H2118D 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 131 0 0.00 100 23 18.70 - - - ALDH8A1 0 genome.wustl.edu 37 6 135239645 135239645 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 6 135239645 135239645 C T SNP ALDH8A1 ENST00000265605 human ensembl 69_37n -1 known missense c.1372 p.G458R 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 182 0 0.00 124 31 20.00 - - - ALOXE3 0 genome.wustl.edu 37 17 8020169 8020169 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 17 8020169 8020169 C T SNP ALOXE3 ENST00000318227 human ensembl 69_37n -1 known missense c.673 p.D225N 0.965 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 176 0 0.00 59 19 24.36 - - - ANKRD30B 0 genome.wustl.edu 37 18 14843061 14843061 + Silent SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 18 14843061 14843061 C G SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known silent c.2790 p.G930 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 475 0 0.00 444 75 14.45 - - - APOL4 0 genome.wustl.edu 37 22 36587925 36587925 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 22 36587925 36587925 C T SNP APOL4 ENST00000352371 human ensembl 69_37n -1 known silent c.252 p.K84 0.000 pfam_ApoL pfam_ApoL - no_errors APOL4 HGNC ENSG00000100336 121 0 0.00 108 19 14.96 - - - ATP13A1 0 genome.wustl.edu 37 19 19756232 19756232 + Nonstop_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 19756232 19756232 C G SNP ATP13A1 ENST00000357324 human ensembl 69_37n -1 known nonstop c.3614 p.*1205S 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A1 HGNC ENSG00000105726 38 0 0.00 30 10 25.00 - - - ATP6AP1 0 genome.wustl.edu 37 X 153660671 153660671 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 153660671 153660671 C T SNP ATP6AP1 ENST00000369762 human ensembl 69_37n +1 known silent c.423 p.V141 0.999 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 135 0 0.00 108 18 14.29 - - - AVL9 0 genome.wustl.edu 37 7 32598959 32598959 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 32598959 32598959 G C SNP AVL9 ENST00000404479 human ensembl 69_37n +1 known missense c.1098 p.E366D 0.891 pfam_Secretory_pathway_prot_Avl9 pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 22 0 0.00 33 9 21.43 - - - BBS9 0 genome.wustl.edu 37 7 33388717 33388717 + Missense_Mutation SNP A A C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 33388717 33388717 A C SNP BBS9 ENST00000242067 human ensembl 69_37n +1 known missense c.1367 p.K456T 0.267 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 241 0 0.00 282 37 11.60 - - - BRAF 0 genome.wustl.edu 37 7 140500217 140500217 + Nonsense_Mutation SNP C C A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 140500217 140500217 C A SNP BRAF ENST00000288602 human ensembl 69_37n -1 known nonsense c.925 p.E309* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 119 0 0.00 89 15 14.42 - - - BTBD7 0 genome.wustl.edu 37 14 93723687 93723687 + Missense_Mutation SNP T T G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 14 93723687 93723687 T G SNP BTBD7 ENST00000334746 human ensembl 69_37n -1 known missense c.1462 p.S488R 1.000 smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 239 0 0.00 222 37 14.29 - - - BTN2A2 0 genome.wustl.edu 37 6 26388255 26388255 + Missense_Mutation SNP C C A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 6 26388255 26388255 C A SNP BTN2A2 ENST00000356709 human ensembl 69_37n +1 known missense c.457 p.P153T 0.054 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A2 HGNC ENSG00000124508 127 1 0.78 114 17 12.88 - - - C12orf77 0 genome.wustl.edu 37 12 25148864 25148864 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 25148864 25148864 G A SNP C12orf77 ENST00000549828 human ensembl 69_37n -1 known missense c.284 p.S95F 0.000 NULL NULL - no_errors C12orf77 HGNC ENSG00000226397 229 1 0.43 158 42 21.00 - - - C7 0 genome.wustl.edu 37 5 40959700 40959700 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 5 40959700 40959700 G C SNP C7 ENST00000313164 human ensembl 69_37n +1 known missense c.1639 p.D547H 1.000 pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 148 0 0.00 177 25 12.38 - - - CABIN1 0 genome.wustl.edu 37 22 24573644 24573644 + Silent SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 22 24573644 24573644 C G SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known silent c.6378 p.S2126 0.864 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 62 0 0.00 62 24 27.91 - - - CD109 0 genome.wustl.edu 37 6 74473391 74473391 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 6 74473391 74473391 C G SNP CD109 ENST00000287097 human ensembl 69_37n +1 known missense c.1090 p.L364V 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 208 0 0.00 95 46 32.62 - - - CHRNA4 0 genome.wustl.edu 37 20 61981765 61981765 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 20 61981765 61981765 C T SNP CHRNA4 ENST00000370263 human ensembl 69_37n -1 known missense c.998 p.R333H 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 196 1 0.51 241 30 10.99 - - - CPXM1 0 genome.wustl.edu 37 20 2777840 2777840 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 20 2777840 2777840 G A SNP CPXM1 ENST00000380605 human ensembl 69_37n -1 known missense c.830 p.S277L 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors CPXM1 HGNC ENSG00000088882 58 0 0.00 87 15 14.71 - - - CREB3L3 0 genome.wustl.edu 37 19 4171688 4171688 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 4171688 4171688 C G SNP CREB3L3 ENST00000078445 human ensembl 69_37n +1 known missense c.1108 p.R370G 0.603 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 8 0 0.00 11 5 31.25 - - - CRELD2 0 genome.wustl.edu 37 22 50319160 50319160 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 22 50319160 50319160 G A SNP CRELD2 ENST00000404488 human ensembl 69_37n +1 known missense c.1111 p.G371S 0.997 pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_DUF3456,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_Furin_repeat,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 140 0 0.00 117 26 18.18 - - - CSMD3 0 genome.wustl.edu 37 8 113314091 113314091 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 113314091 113314091 G A SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.8371 p.L2791F 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 180 0 0.00 338 43 11.29 - - - CTAG2 0 genome.wustl.edu 37 X 153881773 153881773 + Missense_Mutation SNP T T C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 153881773 153881773 T C SNP CTAG2 ENST00000369585 human ensembl 69_37n -1 known missense c.17 p.Q6R 0.001 NULL pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 8 0 0.00 2 4 66.67 - - - CXorf65 0 genome.wustl.edu 37 X 70324637 70324637 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 70324637 70324637 G A SNP CXorf65 ENST00000374251 human ensembl 69_37n -1 known missense c.301 p.P101S 0.985 NULL NULL - no_errors CXorf65 HGNC ENSG00000204165 309 0 0.00 220 56 20.29 - - - CYP11B2 0 genome.wustl.edu 37 8 143993470 143993470 + Missense_Mutation SNP C C A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 143993470 143993470 C A SNP CYP11B2 ENST00000323110 human ensembl 69_37n -1 known missense c.1438 p.D480Y 0.972 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,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 290 0 0.00 152 528 77.53 - - - DDX24 0 genome.wustl.edu 37 14 94526604 94526604 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 14 94526604 94526604 G C SNP DDX24 ENST00000330836 human ensembl 69_37n -1 known missense c.1753 p.Q585E 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 249 0 0.00 286 48 14.37 - - - DDX58 0 genome.wustl.edu 37 9 32491384 32491384 + Silent SNP A A G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 9 32491384 32491384 A G SNP DDX58 ENST00000379883 human ensembl 69_37n -1 known silent c.606 p.D202 0.000 NULL pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 156 0 0.00 91 28 23.33 - - - DEPDC4 0 genome.wustl.edu 37 12 100660851 100660851 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 100660851 100660851 C T SNP DEPDC4 ENST00000378244 human ensembl 69_37n -1 known missense c.4 p.V2M 0.001 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC ENSG00000166153 41 0 0.00 28 11 28.21 - - - DLG2 0 genome.wustl.edu 37 11 83984277 83984277 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 11 83984277 83984277 G A SNP DLG2 ENST00000418306 human ensembl 69_37n -1 known missense c.22 p.R8W 0.996 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_Guanylate_kin,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC ENSG00000150672 63 0 0.00 73 17 18.89 - - - DNAJC14 0 genome.wustl.edu 37 12 56221462 56221462 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 56221462 56221462 C T SNP DNAJC14 ENST00000317269 human ensembl 69_37n -1 known silent c.981 p.L327 0.997 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 70 0 0.00 92 21 18.58 - - - DOK5 0 genome.wustl.edu 37 20 53260061 53260061 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 20 53260061 53260061 C T SNP DOK5 ENST00000262593 human ensembl 69_37n +1 known missense c.800 p.A267V 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 45 0 0.00 26 7 21.21 - - - DOPEY2 0 genome.wustl.edu 37 21 37665636 37665636 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 21 37665636 37665636 G A SNP DOPEY2 ENST00000399151 human ensembl 69_37n +1 known missense c.6664 p.E2222K 0.706 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 121 0 0.00 78 14 15.22 - - - ECM2 0 genome.wustl.edu 37 9 95263288 95263288 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 9 95263288 95263288 G A SNP ECM2 ENST00000344604 human ensembl 69_37n -1 known missense c.1652 p.P551L 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 247 1 0.40 178 47 20.89 - - - EGFL6 0 genome.wustl.edu 37 X 13636126 13636126 + Silent SNP C C A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 13636126 13636126 C A SNP EGFL6 ENST00000380602 human ensembl 69_37n +1 known silent c.1056 p.A352 0.074 NULL pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 33 0 0.00 55 19 25.68 - - - ELL3 0 genome.wustl.edu 37 15 44066875 44066875 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 15 44066875 44066875 C T SNP ELL3 ENST00000319359 human ensembl 69_37n -1 known missense c.742 p.D248N 0.990 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 502 0 0.00 285 70 19.72 - - - EMR3 0 genome.wustl.edu 37 19 14748956 14748956 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 14748956 14748956 G A SNP EMR3 ENST00000253673 human ensembl 69_37n -1 known missense c.1445 p.S482F 0.938 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 140 0 0.00 89 12 11.88 - - - ERN2 0 genome.wustl.edu 37 16 23722313 23722313 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 16 23722313 23722313 G C SNP ERN2 ENST00000569903 human ensembl 69_37n -1 known missense c.203 p.S68C 0.999 NULL NULL - no_errors ERN2 HGNC ENSG00000134398 151 0 0.00 86 19 18.10 - - - ESYT3 0 genome.wustl.edu 37 3 138180987 138180987 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 3 138180987 138180987 G A SNP ESYT3 ENST00000389567 human ensembl 69_37n +1 known missense c.854 p.R285H 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 253 0 0.00 120 24 16.67 - - - EXOC7 0 genome.wustl.edu 37 17 74084623 74084623 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 17 74084623 74084623 C G SNP EXOC7 ENST00000335146 human ensembl 69_37n -1 known missense c.1374 p.K458N 1.000 pfam_Exo70,superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 154 0 0.00 92 35 27.56 - - - FAM111B 0 genome.wustl.edu 37 11 58892505 58892506 + Frame_Shift_Del DEL GA GA - TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 11 58892505 58892506 GA - DEL FAM111B ENST00000343597 human ensembl 69_37n +1 known frame_shift_del c.935_936 p.E313fs 0.000:0.000 NULL superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111B HGNC ENSG00000189057 36 0 0.00 110 15 12.00 - - - FAM218A 0 genome.wustl.edu 37 4 165878596 165878596 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 4 165878596 165878596 G C SNP FAM218A ENST00000513876 human ensembl 69_37n +1 known missense c.422 p.R141T 0.047 NULL NULL - no_errors FAM218A HGNC ENSG00000250486 146 1 0.68 66 17 20.48 - - - FAP 0 genome.wustl.edu 37 2 163072487 163072487 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 2 163072487 163072487 G C SNP FAP ENST00000188790 human ensembl 69_37n -1 known missense c.787 p.R263G 0.999 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 109 0 0.00 77 18 18.95 - - - FLG2 0 genome.wustl.edu 37 1 152326999 152326999 + Missense_Mutation SNP C C A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 152326999 152326999 C A SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.3263 p.G1088V 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 449 0 0.00 313 126 28.70 - - - FLNC 0 genome.wustl.edu 37 7 128480154 128480154 + Missense_Mutation SNP T T C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 128480154 128480154 T C SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.1489 p.F497L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 168 1 0.59 154 26 14.44 - - - FOSL2 0 genome.wustl.edu 37 2 28635012 28635012 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 2 28635012 28635012 G A SNP FOSL2 ENST00000264716 human ensembl 69_37n +1 known silent c.678 p.L226 0.754 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 10 0 0.00 20 7 25.93 - - - FUK 0 genome.wustl.edu 37 16 70497598 70497598 + Missense_Mutation SNP A A C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 16 70497598 70497598 A C SNP FUK ENST00000378912 human ensembl 69_37n +1 known missense c.155 p.K52T 0.004 NULL pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 40 0 0.00 32 6 15.79 - - - GAPDHS 0 genome.wustl.edu 37 19 36035879 36035879 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 36035879 36035879 C T SNP GAPDHS ENST00000222286 human ensembl 69_37n +1 known silent c.1125 p.L375 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 134 1 0.74 101 27 20.93 - - - GLRX2 0 genome.wustl.edu 37 1 193074652 193074652 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 193074652 193074652 C T SNP GLRX2 ENST00000367440 human ensembl 69_37n -1 known silent c.117 p.A39 0.001 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX2 HGNC ENSG00000023572 28 0 0.00 40 7 14.89 - - - GPRASP2 0 genome.wustl.edu 37 X 101970776 101970776 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 101970776 101970776 G C SNP GPRASP2 ENST00000332262 human ensembl 69_37n +1 known missense c.979 p.E327Q 0.999 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 128 0 0.00 103 29 21.97 - - - GRAMD1A 0 genome.wustl.edu 37 19 35504261 35504261 + Silent SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 35504261 35504261 G C SNP GRAMD1A ENST00000317991 human ensembl 69_37n +1 known silent c.708 p.L236 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 100 0 0.00 60 13 17.81 - - - GRB10 0 genome.wustl.edu 37 7 50680488 50680488 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 50680488 50680488 C T SNP GRB10 ENST00000398812 human ensembl 69_37n -1 known missense c.1144 p.E382K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 320 0 0.00 247 44 15.12 - - - HAND2 0 genome.wustl.edu 37 4 174450130 174450130 + Missense_Mutation SNP G G T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 4 174450130 174450130 G T SNP HAND2 ENST00000359562 human ensembl 69_37n -1 known missense c.311 p.A104D 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors HAND2 HGNC ENSG00000164107 82 0 0.00 85 14 14.14 - - - HDAC6 0 genome.wustl.edu 37 X 48681990 48681990 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 48681990 48681990 G A SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.3223 p.E1075K 0.000 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 32 0 0.00 48 7 12.73 - - - HECTD4 0 genome.wustl.edu 37 12 112645729 112645729 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 112645729 112645729 C G SNP HECTD4 ENST00000377560 human ensembl 69_37n -1 known missense c.7564 p.E2522Q 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 160 0 0.00 105 26 19.85 - - - HERC2 0 genome.wustl.edu 37 15 28419644 28419644 + Silent SNP C C A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 15 28419644 28419644 C A SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known silent c.9954 p.S3318 0.521 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 190 0 0.00 94 22 18.97 - - - HERC6 0 genome.wustl.edu 37 4 89326043 89326043 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 4 89326043 89326043 C T SNP HERC6 ENST00000264346 human ensembl 69_37n +1 known missense c.1108 p.R370C 0.000 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 295 0 0.00 217 45 17.18 - - - HKR1 0 genome.wustl.edu 37 19 37853811 37853811 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 37853811 37853811 C G SNP HKR1 ENST00000324411 human ensembl 69_37n +1 known missense c.1114 p.L372V 0.688 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 HKR1 HGNC ENSG00000181666 117 0 0.00 88 69 43.95 - - - HKR1 0 genome.wustl.edu 37 19 37854586 37854586 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 37854586 37854586 C T SNP HKR1 ENST00000324411 human ensembl 69_37n +1 known missense c.1889 p.S630L 0.996 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 HKR1 HGNC ENSG00000181666 157 0 0.00 96 59 38.06 - - - HTR3D 0 genome.wustl.edu 37 3 183755826 183755826 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 3 183755826 183755826 G A SNP HTR3D ENST00000382489 human ensembl 69_37n +1 known silent c.678 p.R226 0.999 superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 89 0 0.00 94 15 13.76 - - - ICA1 0 genome.wustl.edu 37 7 8167561 8167561 + Silent SNP A A G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 8167561 8167561 A G SNP ICA1 ENST00000422063 human ensembl 69_37n -1 known silent c.1359 p.G453 0.000 pfam_Islet_autoAg_Ica1_C pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ENSG00000003147 137 1 0.71 152 20 11.43 - - - IGSF1 0 genome.wustl.edu 37 X 130412089 130412089 + Silent SNP G G T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 130412089 130412089 G T SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known silent c.2076 p.V692 0.996 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 100 0 0.00 77 15 16.30 - - - INMT 0 genome.wustl.edu 37 7 30793370 30793370 + Missense_Mutation SNP A A T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 30793370 30793370 A T SNP INMT ENST00000013222 human ensembl 69_37n +1 known missense c.178 p.I60F 0.998 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 95 0 0.00 92 19 16.96 - - - ITIH5 0 genome.wustl.edu 37 10 7621758 7621758 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 10 7621758 7621758 G A SNP ITIH5 ENST00000256861 human ensembl 69_37n -1 known missense c.1378 p.R460C 0.734 smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 121 0 0.00 117 15 11.36 - - - KIAA0754 0 genome.wustl.edu 37 1 39877270 39877270 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 39877270 39877270 G A SNP KIAA0754 ENST00000530275 human ensembl 69_37n +1 known missense c.925 p.D309N 0.113 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 147 0 0.00 138 28 16.87 - - - KIF4A 0 genome.wustl.edu 37 X 69625735 69625735 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 69625735 69625735 G A SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known missense c.2956 p.E986K 0.993 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 203 0 0.00 138 38 21.47 - - - KRT121P 0 genome.wustl.edu 37 12 52652197 52652197 + RNA SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 52652197 52652197 G A SNP KRT121P ENST00000529785 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors KRT121P HGNC ENSG00000135477 8 0 0.00 27 7 20.59 - - - L3MBTL2 0 genome.wustl.edu 37 22 41626159 41626159 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 22 41626159 41626159 G A SNP L3MBTL2 ENST00000216237 human ensembl 69_37n +1 known silent c.2022 p.V674 1.000 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 57 0 0.00 44 6 12.00 - - - L3MBTL3 0 genome.wustl.edu 37 6 130370912 130370912 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 6 130370912 130370912 C G SNP L3MBTL3 ENST00000361794 human ensembl 69_37n +1 known missense c.226 p.P76A 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 147 0 0.00 101 30 22.90 - - - LAMB1 0 genome.wustl.edu 37 7 107601001 107601001 + Missense_Mutation SNP G G T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 107601001 107601001 G T SNP LAMB1 ENST00000222399 human ensembl 69_37n -1 known missense c.2203 p.Q735K 1.000 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 162 0 0.00 122 26 17.57 - - - LIMA1 0 genome.wustl.edu 37 12 50571543 50571543 + Silent SNP C C A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 50571543 50571543 C A SNP LIMA1 ENST00000394943 human ensembl 69_37n -1 known silent c.1587 p.L529 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 194 0 0.00 131 29 18.12 - - - LRP1 0 genome.wustl.edu 37 12 57532316 57532316 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 57532316 57532316 G A SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.142 p.D48N 1.000 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,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 237 0 0.00 179 43 19.37 - - - LRP4 0 genome.wustl.edu 37 11 46889599 46889599 + Missense_Mutation SNP T T C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 11 46889599 46889599 T C SNP LRP4 ENST00000378623 human ensembl 69_37n -1 known missense c.5018 p.N1673S 1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 304 0 0.00 182 51 21.89 - - - LRRC14B 0 genome.wustl.edu 37 5 192381 192381 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 5 192381 192381 C T SNP LRRC14B ENST00000328278 human ensembl 69_37n +1 novel missense c.728 p.S243L 0.091 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 15 0 0.00 34 10 22.73 - - - LY96 0 genome.wustl.edu 37 8 74939031 74939031 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 74939031 74939031 G A SNP LY96 ENST00000284818 human ensembl 69_37n +1 known silent c.339 p.V113 0.506 pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY96 HGNC ENSG00000154589 172 0 0.00 116 34 22.67 - - - MARK1 0 genome.wustl.edu 37 1 220804452 220804452 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 220804452 220804452 G A SNP MARK1 ENST00000366917 human ensembl 69_37n +1 known missense c.985 p.D329N 1.000 pfscan_UBA/transl_elong_EF1B_N_euk pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 187 0 0.00 141 72 33.80 - - - MESDC2 0 genome.wustl.edu 37 15 81271807 81271807 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 15 81271807 81271807 C G SNP MESDC2 ENST00000261758 human ensembl 69_37n -1 known missense c.458 p.G153A 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 76 0 0.00 47 16 25.40 - - - MKRN1 0 genome.wustl.edu 37 7 140154430 140154430 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 140154430 140154430 C T SNP MKRN1 ENST00000255977 human ensembl 69_37n -1 known missense c.1336 p.E446K 1.000 NULL pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN1 HGNC ENSG00000133606 406 0 0.00 277 58 17.31 - - - MLL4 0 genome.wustl.edu 37 19 36210398 36210398 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 36210398 36210398 G C SNP MLL4 ENST00000222270 human ensembl 69_37n +1 known missense c.391 p.D131H 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors MLL4 Clone_based_vega_gene ENSG00000105663 235 0 0.00 145 22 13.17 - - - MRPS14 0 genome.wustl.edu 37 1 174983888 174983888 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 174983888 174983888 G A SNP MRPS14 ENST00000476371 human ensembl 69_37n -1 known missense c.304 p.R102W 1.000 pfam_Ribosomal_S14 pfam_Ribosomal_S14 - no_errors MRPS14 HGNC ENSG00000120333 87 0 0.00 109 13 10.66 - - - MTMR9 0 genome.wustl.edu 37 8 11180245 11180245 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 11180245 11180245 G A SNP MTMR9 ENST00000221086 human ensembl 69_37n +1 known missense c.1598 p.R533Q 0.991 NULL pfam_Myotub-related - no_errors MTMR9 HGNC ENSG00000104643 148 1 0.67 79 26 24.76 - - - NLRP11 0 genome.wustl.edu 37 19 56297174 56297174 + Frame_Shift_Del DEL T T - TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 56297174 56297174 T - DEL NLRP11 ENST00000443188 human ensembl 69_37n -1 known frame_shift_del c.2919 p.K973fs 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 79 0 0.00 115 13 10.00 - - - NUP153 0 genome.wustl.edu 37 6 17637836 17637836 + Missense_Mutation SNP T T A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 6 17637836 17637836 T A SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known missense c.2105 p.N702I 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 330 0 0.00 427 50 10.48 - - - OR2B2 0 genome.wustl.edu 37 6 27879467 27879467 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 6 27879467 27879467 C T SNP OR2B2 ENST00000303324 human ensembl 69_37n -1 known missense c.631 p.V211M 0.000 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 OR2B2 HGNC ENSG00000168131 208 0 0.00 83 21 20.19 - - - OR2L8 0 genome.wustl.edu 37 1 248112345 248112345 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 248112345 248112345 G A SNP OR2L8 ENST00000357191 human ensembl 69_37n +1 known silent c.186 p.L62 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 461 1 0.22 532 87 14.03 - - - OR4C12 0 genome.wustl.edu 37 11 50003262 50003262 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 11 50003262 50003262 G A SNP OR4C12 ENST00000335238 human ensembl 69_37n -1 known missense c.776 p.S259L 0.170 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 OR4C12 HGNC ENSG00000221954 129 0 0.00 183 32 14.88 - - - OR5B17 0 genome.wustl.edu 37 11 58126186 58126186 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 11 58126186 58126186 G A SNP OR5B17 ENST00000357377 human ensembl 69_37n -1 known silent c.357 p.D119 0.991 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 OR5B17 HGNC ENSG00000197786 231 0 0.00 151 55 26.57 - - - OR6K6 0 genome.wustl.edu 37 1 158724994 158724994 + Missense_Mutation SNP A A T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 158724994 158724994 A T SNP OR6K6 ENST00000368144 human ensembl 69_37n +1 known missense c.389 p.Y130F 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 111 0 0.00 143 26 15.38 - - - ORC2 0 genome.wustl.edu 37 2 201778053 201778053 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 2 201778053 201778053 C T SNP ORC2 ENST00000234296 human ensembl 69_37n -1 known missense c.1612 p.E538K 1.000 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 93 0 0.00 67 29 29.90 - - - PADI6 0 genome.wustl.edu 37 1 17714946 17714946 + RNA SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 17714946 17714946 G A SNP PADI6 ENST00000358481 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PADI6 HGNC ENSG00000256049 139 0 0.00 85 22 20.56 - - - PCDHGA6 0 genome.wustl.edu 37 5 140755127 140755127 + Nonsense_Mutation SNP G G T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 5 140755127 140755127 G T SNP PCDHGA6 ENST00000517434 human ensembl 69_37n +1 known nonsense c.1477 p.E493* 0.117 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 81 0 0.00 61 21 25.61 - - - PCID2 0 genome.wustl.edu 37 13 113851339 113851339 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 13 113851339 113851339 G A SNP PCID2 ENST00000246505 human ensembl 69_37n -1 known missense c.419 p.S140L 0.000 NULL pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 91 0 0.00 51 14 21.54 - - - PDE10A 0 genome.wustl.edu 37 6 165863749 165863749 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 6 165863749 165863749 C T SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known silent c.327 p.L109 0.987 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 257 0 0.00 194 45 18.83 - - - PDGFC 0 genome.wustl.edu 37 4 157689125 157689125 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 4 157689125 157689125 G A SNP PDGFC ENST00000502773 human ensembl 69_37n -1 known silent c.721 p.L241 1.000 NULL pfam_CUB,pfam_PD_growth_factor,superfamily_CUB,smart_CUB,smart_PD_growth_factor,pfscan_CUB,pfscan_PD_growth_factor - no_errors PDGFC HGNC ENSG00000145431 167 0 0.00 106 30 22.06 - - - PDIK1L 0 genome.wustl.edu 37 1 26448562 26448562 + Nonsense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 26448562 26448562 C T SNP PDIK1L ENST00000374269 human ensembl 69_37n +1 known nonsense c.520 p.Q174* 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 PDIK1L HGNC ENSG00000175087 129 0 0.00 124 29 18.95 - - - PHF17 0 genome.wustl.edu 37 4 129770145 129770145 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 4 129770145 129770145 G A SNP PHF17 ENST00000226319 human ensembl 69_37n +1 known missense c.307 p.E103K 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 190 0 0.00 182 25 12.08 - - - PJA2 0 genome.wustl.edu 37 5 108714379 108714379 + Missense_Mutation SNP T T A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 5 108714379 108714379 T A SNP PJA2 ENST00000361189 human ensembl 69_37n -1 known missense c.809 p.Q270L 0.690 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 347 0 0.00 224 52 18.84 - - - PKHD1L1 0 genome.wustl.edu 37 8 110463293 110463294 + Frame_Shift_Del DEL CT CT - TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 110463293 110463294 CT - DEL PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known frame_shift_del c.6265_6266 p.L2089fs 0.734:0.995 NULL 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 127 0 0.00 59 283 79.05 - - - PLXNA1 0 genome.wustl.edu 37 3 126707486 126707488 + In_Frame_Del DEL TGC TGC - TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 3 126707486 126707488 TGC - DEL PLXNA1 ENST00000393409 human ensembl 69_37n +1 known in_frame_del c.50_52 p.L21in_frame_del 0.001:0.000:0.000 NULL 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 PLXNA1 HGNC ENSG00000114554 8 0 0.00 4 2 33.33 - - - POM121 0 genome.wustl.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 72413723 72413724 - CTC INS POM121 ENST00000434423 human ensembl 69_37n +1 known in_frame_ins c.3191_3192 p.1065in_frame_insS 0.980:0.870 NULL NULL - no_errors POM121 HGNC ENSG00000196313 18 0 0.00 32 4 11.11 - - - POTEA 0 genome.wustl.edu 37 8 43211970 43211970 + RNA SNP A A C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 43211970 43211970 A C SNP POTEA ENST00000522175 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors POTEA HGNC ENSG00000188877 118 0 0.00 61 103 62.80 - - - POU6F2 0 genome.wustl.edu 37 7 39503976 39503976 + Silent SNP T T C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 39503976 39503976 T C SNP POU6F2 ENST00000403058 human ensembl 69_37n +1 known silent c.1767 p.H589 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 93 0 0.00 139 18 11.46 - - - PREX2 0 genome.wustl.edu 37 8 69017562 69017562 + RNA SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 69017562 69017562 C G SNP PREX2 ENST00000529398 human ensembl 69_37n +1 known rna NULL NULL 0.012 - - - no_errors PREX2 HGNC ENSG00000046889 93 0 0.00 87 19 17.92 - - - PRG2 0 genome.wustl.edu 37 11 57156722 57156722 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 11 57156722 57156722 C T SNP PRG2 ENST00000311862 human ensembl 69_37n -1 known missense c.127 p.E43K 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG2 HGNC ENSG00000186652 124 0 0.00 108 42 28.00 - - - PRKAA1 0 genome.wustl.edu 37 5 40798178 40798178 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 5 40798178 40798178 G A SNP PRKAA1 ENST00000354209 human ensembl 69_37n -1 known silent c.114 p.F38 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 PRKAA1 HGNC ENSG00000132356 88 0 0.00 58 17 22.67 - - - PRPF38B 0 genome.wustl.edu 37 1 109241882 109241882 + Missense_Mutation SNP A A T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 109241882 109241882 A T SNP PRPF38B ENST00000370025 human ensembl 69_37n +1 known missense c.881 p.E294V 1.000 NULL pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 53 0 0.00 34 15 30.61 - - - PTGER3 0 genome.wustl.edu 37 1 71478130 71478130 + Missense_Mutation SNP A A T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 71478130 71478130 A T SNP PTGER3 ENST00000354608 human ensembl 69_37n -1 known missense c.935 p.V312D 0.861 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP3_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 162 0 0.00 117 27 18.75 - - - PTPN13 0 genome.wustl.edu 37 4 87696433 87696433 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 4 87696433 87696433 G A SNP PTPN13 ENST00000436978 human ensembl 69_37n +1 known missense c.5633 p.R1878K 0.996 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 130 0 0.00 134 39 22.54 - - - PYHIN1 0 genome.wustl.edu 37 1 158914788 158914788 + Missense_Mutation SNP C C A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 158914788 158914788 C A SNP PYHIN1 ENST00000368140 human ensembl 69_37n +1 known missense c.1315 p.P439T 0.050 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 220 0 0.00 342 103 23.15 - - - PZP 0 genome.wustl.edu 37 12 9317892 9317892 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 9317892 9317892 C G SNP PZP ENST00000261336 human ensembl 69_37n -1 known missense c.2330 p.C777S 1.000 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 108 0 0.00 130 22 14.47 - - - QSER1 0 genome.wustl.edu 37 11 32955856 32955856 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 11 32955856 32955856 C G SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known missense c.2665 p.H889D 0.998 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 100 0 0.00 65 17 20.73 - - - RASA1 0 genome.wustl.edu 37 5 86633865 86633865 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 5 86633865 86633865 C G SNP RASA1 ENST00000274376 human ensembl 69_37n +1 known missense c.974 p.T325R 1.000 pfam_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 243 0 0.00 257 61 19.18 - - - RHOB 0 genome.wustl.edu 37 2 20647544 20647544 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 2 20647544 20647544 C T SNP RHOB ENST00000272233 human ensembl 69_37n +1 known silent c.318 p.F106 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOB HGNC ENSG00000143878 47 0 0.00 81 15 15.62 - - - RNASE3 0 genome.wustl.edu 37 14 21360155 21360155 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 14 21360155 21360155 C T SNP RNASE3 ENST00000304639 human ensembl 69_37n +1 known missense c.310 p.R104W 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE3 HGNC ENSG00000169397 180 0 0.00 145 46 24.08 - - - RNF32 0 genome.wustl.edu 37 7 156437412 156437412 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 156437412 156437412 G C SNP RNF32 ENST00000317955 human ensembl 69_37n +1 known missense c.235 p.E79Q 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 60 0 0.00 96 17 14.91 - - - RPS6 0 genome.wustl.edu 37 9 19378776 19378776 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 9 19378776 19378776 C G SNP RPS6 ENST00000380394 human ensembl 69_37n -1 known missense c.279 p.K93N 1.000 pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk - no_errors RPS6 HGNC ENSG00000137154 88 0 0.00 63 12 16.00 - - - RYR2 0 genome.wustl.edu 37 1 237532863 237532863 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 237532863 237532863 C T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.333 p.L111 0.999 pfam_Ins145_P3_rcpt,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 341 0 0.00 298 109 26.78 - - - SACM1L 0 genome.wustl.edu 37 3 45746631 45746631 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 3 45746631 45746631 G C SNP SACM1L ENST00000389061 human ensembl 69_37n +1 known missense c.135 p.K45N 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 150 0 0.00 98 28 22.22 - - - SCG5 0 genome.wustl.edu 37 15 32936016 32936016 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 15 32936016 32936016 G A SNP SCG5 ENST00000300175 human ensembl 69_37n +1 known missense c.223 p.E75K 1.000 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 28 0 0.00 33 6 15.38 - - - SCN1A 0 genome.wustl.edu 37 2 166903316 166903316 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 2 166903316 166903316 C G SNP SCN1A ENST00000303395 human ensembl 69_37n -1 known missense c.1341 p.M447I 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 297 0 0.00 151 33 17.93 - - - SETD2 0 genome.wustl.edu 37 3 47058665 47058665 + Frame_Shift_Del DEL T T - TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 3 47058665 47058665 T - DEL SETD2 ENST00000409792 human ensembl 69_37n -1 known frame_shift_del c.7613 p.H2538fs 1.000 pfam_SRI pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 602 0 0.00 338 102 22.47 - - - SF3B4 0 genome.wustl.edu 37 1 149898614 149898614 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 149898614 149898614 G C SNP SF3B4 ENST00000271628 human ensembl 69_37n -1 known missense c.360 p.F120L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 177 0 0.00 227 188 45.19 - - - SH3BGR 0 genome.wustl.edu 37 21 40834433 40834433 + Nonsense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 21 40834433 40834433 C G SNP SH3BGR ENST00000452550 human ensembl 69_37n +1 novel nonsense c.152 p.S51* 1.000 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SH3BGR HGNC ENSG00000185437 178 0 0.00 272 41 13.06 - - - SLC17A7 0 genome.wustl.edu 37 19 49938086 49938086 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 49938086 49938086 G A SNP SLC17A7 ENST00000221485 human ensembl 69_37n -1 known missense c.488 p.S163L 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 161 0 0.00 97 26 21.14 - - - SLC25A32 0 genome.wustl.edu 37 8 104419920 104419920 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 104419920 104419920 G C SNP SLC25A32 ENST00000297578 human ensembl 69_37n -1 known missense c.247 p.Q83E 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 201 0 0.00 184 74 28.68 - - - SLCO2A1 0 genome.wustl.edu 37 3 133664066 133664066 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 3 133664066 133664066 C G SNP SLCO2A1 ENST00000310926 human ensembl 69_37n -1 known missense c.1334 p.R445P 0.069 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 94 0 0.00 45 12 21.05 - - - STYX 0 genome.wustl.edu 37 14 53211599 53211599 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 14 53211599 53211599 G A SNP STYX ENST00000354586 human ensembl 69_37n +1 known missense c.87 p.M29I 1.000 smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYX HGNC ENSG00000198252 322 0 0.00 269 64 19.22 - - - SULT1E1 0 genome.wustl.edu 37 4 70709918 70709918 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 4 70709918 70709918 C T SNP SULT1E1 ENST00000226444 human ensembl 69_37n -1 known missense c.733 p.E245K 0.005 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1E1 HGNC ENSG00000109193 489 0 0.00 252 71 21.98 - - - SURF2 0 genome.wustl.edu 37 9 136227991 136227991 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 9 136227991 136227991 C T SNP SURF2 ENST00000371964 human ensembl 69_37n +1 known silent c.747 p.F249 0.184 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC ENSG00000148291 134 0 0.00 65 47 41.96 - - - SYNE2 0 genome.wustl.edu 37 14 64600841 64600841 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 14 64600841 64600841 C T SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.14569 p.L4857F 0.998 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 184 0 0.00 242 47 16.26 - - - TAS2R50 0 genome.wustl.edu 37 12 11138561 11138561 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 12 11138561 11138561 C T SNP TAS2R50 ENST00000506868 human ensembl 69_37n -1 known silent c.899 p.*300 0.001 NULL pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 67 0 0.00 104 17 14.05 - - - TBL1X 0 genome.wustl.edu 37 X 9621720 9621720 + Nonsense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 9621720 9621720 C T SNP TBL1X ENST00000217964 human ensembl 69_37n +1 known nonsense c.94 p.R32* 0.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 174 0 0.00 93 18 16.22 - - - TBL2 0 genome.wustl.edu 37 7 72984983 72984983 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 72984983 72984983 G C SNP TBL2 ENST00000305632 human ensembl 69_37n -1 known missense c.1198 p.H400D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 36 0 0.00 44 6 11.76 - - - TLN1 0 genome.wustl.edu 37 9 35711069 35711069 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 9 35711069 35711069 C T SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known missense c.4030 p.D1344N 1.000 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 289 1 0.34 258 45 14.85 - - - TNN 0 genome.wustl.edu 37 1 175116123 175116123 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 175116123 175116123 G C SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.3816 p.L1272F 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C 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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 71 0 0.00 87 15 14.71 - - - TOX 0 genome.wustl.edu 37 8 59764365 59764365 + Splice_Site SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 8 59764365 59764365 C G SNP TOX ENST00000361421 human ensembl 69_37n -1 known splice_site c.412-1 e4-1 1.000 - - - no_errors TOX HGNC ENSG00000198846 31 0 0.00 38 6 13.64 - - - TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.742 p.R248W 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 150 0 0.00 55 28 33.73 - - - TRIM42 0 genome.wustl.edu 37 3 140397118 140397118 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 3 140397118 140397118 G C SNP TRIM42 ENST00000286349 human ensembl 69_37n +1 known missense c.47 p.R16T 0.979 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 410 0 0.00 218 36 14.17 - - - TRIM9 0 genome.wustl.edu 37 14 51448553 51448553 + Silent SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 14 51448553 51448553 C G SNP TRIM9 ENST00000338969 human ensembl 69_37n -1 known silent c.2115 p.R705 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 407 0 0.00 305 78 20.37 - - - TTC16 0 genome.wustl.edu 37 9 130486524 130486524 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 9 130486524 130486524 C G SNP TTC16 ENST00000373289 human ensembl 69_37n +1 known missense c.998 p.T333S 1.000 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 35 0 0.00 21 5 19.23 - - - UBA1 0 genome.wustl.edu 37 X 47073983 47073983 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 47073983 47073983 G A SNP UBA1 ENST00000335972 human ensembl 69_37n +1 known missense c.2988 p.M996I 1.000 pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 185 0 0.00 143 36 20.11 - - - UBAP2 0 genome.wustl.edu 37 9 33944419 33944419 + Nonsense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 9 33944419 33944419 G A SNP UBAP2 ENST00000360802 human ensembl 69_37n -1 known nonsense c.1489 p.Q497* 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 192 0 0.00 250 37 12.89 - - - UBR4 0 genome.wustl.edu 37 1 19487440 19487440 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 1 19487440 19487440 C T SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.5377 p.E1793K 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 174 0 0.00 81 23 22.12 - - - VCAN 0 genome.wustl.edu 37 5 82833462 82833462 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 5 82833462 82833462 C G SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.4640 p.S1547C 0.889 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 127 0 0.00 109 25 18.66 - - - WDR17 0 genome.wustl.edu 37 4 177046468 177046468 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 4 177046468 177046468 C T SNP WDR17 ENST00000280190 human ensembl 69_37n +1 known missense c.824 p.A275V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 244 0 0.00 158 43 21.39 - - - WDR31 0 genome.wustl.edu 37 9 116094279 116094279 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 9 116094279 116094279 C T SNP WDR31 ENST00000374193 human ensembl 69_37n -1 known silent c.24 p.L8 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR31 HGNC ENSG00000148225 260 0 0.00 103 98 48.76 - - - WHAMMP2 0 genome.wustl.edu 37 15 28991133 28991133 + RNA SNP A A G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 15 28991133 28991133 A G SNP WHAMMP2 ENST00000508764 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors WHAMMP2 HGNC ENSG00000248334 9 0 0.00 2 7 77.78 - - - WNK3 0 genome.wustl.edu 37 X 54263733 54263733 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 X 54263733 54263733 G A SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known silent c.4266 p.F1422 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 197 0 0.00 170 49 22.37 - - - ZAN 0 genome.wustl.edu 37 7 100382296 100382296 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 7 100382296 100382296 C T SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.6671 p.S2224L 0.141 pfam_TIL_dom,superfamily_TIL_dom,smart_EGF-like pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 145 0 0.00 103 12 10.43 - - - ZNF536 0 genome.wustl.edu 37 19 31039202 31039202 + Silent SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 31039202 31039202 C T SNP ZNF536 ENST00000355537 human ensembl 69_37n +1 known silent c.2676 p.S892 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 75 0 0.00 70 13 15.66 - - - ZNF829 0 genome.wustl.edu 37 19 37383084 37383084 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 37383084 37383084 C G SNP ZNF829 ENST00000520965 human ensembl 69_37n -1 known missense c.852 p.Q284H 0.911 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 ZNF829 HGNC ENSG00000185869 129 0 0.00 53 33 38.37 - - - ZNF829 0 genome.wustl.edu 37 19 37383374 37383374 + Splice_Site SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 19 37383374 37383374 C G SNP ZNF829 ENST00000520965 human ensembl 69_37n -1 known splice_site c.563-1 e6-1 1.000 - - - no_errors ZNF829 HGNC ENSG00000185869 50 0 0.00 44 10 18.52 - - - ZRSR1 0 genome.wustl.edu 37 5 112227496 112227496 + Missense_Mutation SNP G G C TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 540fe594-0186-40d3-b519-c1ccebe82247 323e0bfd-8f8f-41a8-a94a-8d2d862a15b1 5 112227496 112227496 G C SNP ZRSR1 ENST00000391338 human ensembl 69_37n +1 known missense c.160 p.E54Q 0.011 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 229 0 0.00 232 58 19.93 - - -