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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF A2ML1 0 genome.wustl.edu 37 12 9004924 9004924 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 9004924 9004924 T C SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.2582 p.V861A 0.172 pfam_SV_autoAg pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,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 A2ML1 HGNC ENSG00000166535 tier1 - - 32 0 0.00 31 9 22.50 ABCB1 0 genome.wustl.edu 37 7 87160797 87160797 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 87160797 87160797 A G SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2498 p.L833P 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 51 0 0.00 22 6 21.43 ABCC5 0 genome.wustl.edu 37 3 183689562 183689562 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 183689562 183689562 T A SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.1550 p.K517I 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 tier1 - - 51 0 0.00 38 25 39.68 ABCC9 0 genome.wustl.edu 37 12 21971136 21971136 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 21971136 21971136 C A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3719 p.S1240I 0.447 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 52 0 0.00 51 10 16.39 ABCG1 0 genome.wustl.edu 37 21 43711671 43711671 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 21 43711671 43711671 G A SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.2032 p.V678M 0.064 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 tier1 - - 66 0 0.00 40 4 9.09 ACOX1 0 genome.wustl.edu 37 17 73947507 73947507 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 73947507 73947507 C T SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known missense c.1096 p.E366K 1.000 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 67 0 0.00 55 3 5.17 ADAMTS6 0 genome.wustl.edu 37 5 64494540 64494540 + RNA SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 64494540 64494540 T G SNP ADAMTS6 ENST00000314351 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAMTS6 HGNC ENSG00000049192 tier1 - - 20 0 0.00 7 12 63.16 ADCY10 0 genome.wustl.edu 37 1 167780090 167780090 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 167780090 167780090 G T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.4543 p.H1515N 1.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 51 0 0.00 47 3 6.00 AGBL3 0 genome.wustl.edu 37 7 134701889 134701889 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 134701889 134701889 G C SNP AGBL3 ENST00000458078 human ensembl 74_37 +1 known missense c.319 p.V107L 0.990 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 tier1 - - 34 0 0.00 48 4 7.69 AHNAK2 0 genome.wustl.edu 37 14 105408717 105408717 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 105408717 105408717 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.13071 p.V4357 0.009 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 141 0 0.00 71 66 48.18 AHNAK2 0 genome.wustl.edu 37 14 105409103 105409103 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 105409103 105409103 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.12685 p.V4229L 0.005 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 148 0 0.00 119 23 16.20 AHNAK2 0 genome.wustl.edu 37 14 105409629 105409629 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 105409629 105409629 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.12159 p.K4053N 0.944 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 166 0 0.00 110 35 24.14 ALG1 0 genome.wustl.edu 37 16 5135190 5135190 + RNA SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 16 5135190 5135190 G C SNP ALG1 ENST00000592661 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ALG1 HGNC ENSG00000033011 tier1 - - 31 0 0.00 17 5 22.73 ANGPTL1 0 genome.wustl.edu 37 1 178820419 178820419 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 178820419 178820419 A T SNP ANGPTL1 ENST00000234816 human ensembl 74_37 -1 known missense c.1321 p.W441R 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL1 HGNC ENSG00000116194 tier1 - - 51 0 0.00 55 5 8.33 ANK2 0 genome.wustl.edu 37 4 114195639 114195639 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 114195639 114195639 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.1517 p.R506H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 32 0 0.00 18 2 10.00 ANP32AP1 0 genome.wustl.edu 37 15 35529586 35529586 + RNA SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 35529586 35529586 A G SNP ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ANP32AP1 HGNC ENSG00000259516 tier1 - - 84 0 0.00 13 64 83.12 AP2M1 0 genome.wustl.edu 37 3 183896816 183896816 + Silent SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 183896816 183896816 C G SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known silent c.246 p.L82 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 tier1 - - 38 0 0.00 26 9 25.71 ARHGEF10L 0 genome.wustl.edu 37 1 17944985 17944987 + In_Frame_Del DEL CCT CCT - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 17944985 17944987 CCT - DEL ARHGEF10L ENST00000375408 human ensembl 74_37 +1 known in_frame_del c.137_139 p.S50in_frame_del 0.989:0.989:0.996 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 tier1 33 0 0.00 58 6 9.38 ASTN2 0 genome.wustl.edu 37 9 119568025 119568025 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 119568025 119568025 T C SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2282 p.K761R 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 72 0 0.00 15 61 80.26 ASXL3 0 genome.wustl.edu 37 18 31319382 31319382 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 18 31319382 31319382 T C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.2014 p.F672L 0.997 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 54 0 0.00 9 43 82.69 ATAD2B 0 genome.wustl.edu 37 2 24046176 24046176 + Nonsense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 24046176 24046176 G A SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known nonsense c.2083 p.Q695* 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 58 0 0.00 40 5 11.11 ATP11A 0 genome.wustl.edu 37 13 113508799 113508799 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 113508799 113508799 C T SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.2198 p.T733M 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 27 0 0.00 37 2 5.13 BAI2 0 genome.wustl.edu 37 1 32207476 32207476 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 32207476 32207476 C G SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.1510 p.A504P 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 20 0 0.00 37 10 21.28 BAI3 0 genome.wustl.edu 37 6 69759213 69759213 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 69759213 69759213 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2308 p.L770V 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 51 0 0.00 46 3 6.12 BAK1 0 genome.wustl.edu 37 6 33541885 33541885 + Nonsense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 33541885 33541885 G A SNP BAK1 ENST00000360661 human ensembl 74_37 -1 known nonsense c.457 p.Q153* 0.936 pfam_Blc2_fam,pfscan_Bcl2-like pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAK1 HGNC ENSG00000030110 tier1 - - 35 0 0.00 20 24 54.55 BBS9 0 genome.wustl.edu 37 7 33644812 33644812 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 33644812 33644812 T G SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.2638 p.S880A 0.114 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 tier1 - - 70 0 0.00 56 35 38.46 BMP5 0 genome.wustl.edu 37 6 55620351 55620351 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 55620351 55620351 G A SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.1345 p.R449C 0.993 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 tier1 - - 73 0 0.00 76 4 5.00 BRCA2 0 genome.wustl.edu 37 13 32911231 32911231 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 32911231 32911231 C G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.2739 p.D913E 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 24 0 0.00 40 4 9.09 BRINP2 0 genome.wustl.edu 37 1 177249999 177249999 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 177249999 177249999 C G SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1687 p.L563V 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 23 0 0.00 9 16 64.00 BRSK1 0 genome.wustl.edu 37 19 55817771 55817771 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 55817771 55817771 G A SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.2090 p.G697D 0.943 NULL pfam_Prot_kinase_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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 40 0 0.00 42 4 8.70 C10orf76 0 genome.wustl.edu 37 10 103792733 103792733 + RNA SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 103792733 103792733 A C SNP C10orf76 ENST00000470043 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 44 0 0.00 30 4 11.76 C10orf90 0 genome.wustl.edu 37 10 128114440 128114440 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 128114440 128114440 G A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.2384 p.A795V 0.080 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 - - 97 0 0.00 66 4 5.71 C1orf173 0 genome.wustl.edu 37 1 75037276 75037276 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 75037276 75037276 T C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.4118 p.N1373S 0.102 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 34 0 0.00 32 6 15.79 C1orf173 0 genome.wustl.edu 37 1 75038064 75038064 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 75038064 75038064 T A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3330 p.R1110S 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 59 0 0.00 21 28 57.14 C1orf222 0 genome.wustl.edu 37 1 1922389 1922389 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 1922389 1922389 C G SNP C1orf222 ENST00000434971 human ensembl 74_37 -1 known missense c.7 p.D3H 0.521 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 tier1 - - 62 0 0.00 77 8 9.41 C1orf94 0 genome.wustl.edu 37 1 34666611 34666611 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 34666611 34666611 A C SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.1248 p.E416D 0.393 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 tier1 - - 56 0 0.00 14 34 70.83 C6orf118 0 genome.wustl.edu 37 6 165713939 165713939 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 165713939 165713939 A G SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.790 p.F264L 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 45 0 0.00 48 11 18.64 C7orf69 0 genome.wustl.edu 37 7 47859191 47859191 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 47859191 47859191 A G SNP C7orf69 ENST00000418326 human ensembl 74_37 +1 putative missense c.308 p.K103R 0.001 NULL NULL - no_errors C7orf69 HGNC ENSG00000136275 43 0 0.00 38 2 5.00 C9orf50 0 genome.wustl.edu 37 9 132375866 132375866 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 132375866 132375866 G A SNP C9orf50 ENST00000372478 human ensembl 74_37 -1 known silent c.891 p.S297 0.002 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 tier1 - - 45 0 0.00 51 14 21.54 CADM1 0 genome.wustl.edu 37 11 115061610 115061610 + Nonsense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 115061610 115061610 G C SNP CADM1 ENST00000331581 human ensembl 74_37 -1 novel nonsense c.1163 p.S388* 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 tier1 - - 52 0 0.00 13 19 59.38 CAMSAP1 0 genome.wustl.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 138715799 138715800 - T INS CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known frame_shift_ins c.1430_1429 p.T477fs 0.022:0.003 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 tier1 37 0 0.00 51 4 7.27 CAPNS2 0 genome.wustl.edu 37 16 55600896 55600896 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 16 55600896 55600896 G T SNP CAPNS2 ENST00000457326 human ensembl 74_37 +1 known missense c.228 p.E76D 0.992 NULL pfscan_EF_hand_dom - no_errors CAPNS2 HGNC ENSG00000256812 52 0 0.00 38 2 5.00 CCDC144A 0 genome.wustl.edu 37 17 16638500 16638500 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 16638500 16638500 T C SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.2915 p.L972P 1.000 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 tier1 - - 27 0 0.00 10 15 60.00 CCDC144CP 0 genome.wustl.edu 37 17 20245922 20245922 + RNA SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 20245922 20245922 A G SNP CCDC144CP ENST00000580574 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors CCDC144CP HGNC ENSG00000154898 tier1 - - 45 0 0.00 5 26 83.87 CCDC37 0 genome.wustl.edu 37 3 126138544 126138544 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 126138544 126138544 C T SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known silent c.799 p.L267 1.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 32 0 0.00 35 3 7.89 CCDC88C 0 genome.wustl.edu 37 14 91755659 91755659 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 91755659 91755659 A C SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.4231 p.L1411V 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 67 0 0.00 73 4 5.19 CCNA1 0 genome.wustl.edu 37 13 37011833 37011833 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 37011833 37011833 T A SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.365 p.L122H 0.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 tier1 - - 36 0 0.00 27 29 50.88 CDK13 0 genome.wustl.edu 37 7 40027266 40027266 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 40027266 40027266 G T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.1280 p.R427I 1.000 NULL pfam_Prot_kinase_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_dom - no_errors CDK13 HGNC ENSG00000065883 tier1 - - 42 0 0.00 39 4 9.30 CELF4 0 genome.wustl.edu 37 18 35145420 35145420 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 18 35145420 35145420 G A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.185 p.P62L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 tier1 - - 65 0 0.00 70 7 9.09 CERK 0 genome.wustl.edu 37 22 47108089 47108089 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 22 47108089 47108089 C A SNP CERK ENST00000216264 human ensembl 74_37 -1 known missense c.481 p.A161S 0.994 pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 tier1 - - 129 0 0.00 106 15 12.40 CFH 0 genome.wustl.edu 37 1 196643018 196643018 + Silent SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 196643018 196643018 T A SNP CFH ENST00000367429 human ensembl 74_37 +1 known silent c.276 p.P92 0.014 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 70 0 0.00 57 21 26.92 CHST13 0 genome.wustl.edu 37 3 126260888 126260888 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 126260888 126260888 C T SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known missense c.493 p.R165C 0.864 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 tier1 - - 18 0 0.00 20 5 20.00 CHST15 0 genome.wustl.edu 37 10 125801922 125801922 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 125801922 125801922 C T SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.928 p.V310M 0.994 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 48 0 0.00 43 3 6.52 CLASP2 0 genome.wustl.edu 37 3 33584956 33584956 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 33584956 33584956 T A SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.3394 p.T1132S 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 46 0 0.00 20 17 45.95 CLCNKB 0 genome.wustl.edu 37 1 16382972 16382972 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 16382972 16382972 G A SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.1985 p.G662D 0.998 pfam_CBS_dom,smart_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 tier1 - - 109 0 0.00 100 26 20.63 CLDN16 0 genome.wustl.edu 37 3 190105961 190105961 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 190105961 190105961 G T SNP CLDN16 ENST00000264734 human ensembl 74_37 +1 known missense c.53 p.C18F 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 38 0 0.00 49 3 5.77 CNR1 0 genome.wustl.edu 37 6 88854515 88854515 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 88854515 88854515 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.479 p.A160V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 26 0 0.00 24 5 17.24 COL4A5 0 genome.wustl.edu 37 X 107858207 107858207 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 107858207 107858207 A G SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.2462 p.Q821R 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 24 0 0.00 20 4 16.67 COL5A1 0 genome.wustl.edu 37 9 137623929 137623929 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 137623929 137623929 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.1345 p.R449W 0.853 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 91 0 0.00 67 8 10.67 COL5A1 0 genome.wustl.edu 37 9 137697036 137697036 + Silent SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 137697036 137697036 G C SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.3234 p.G1078 0.536 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 38 0 0.00 53 4 7.02 COPA 0 genome.wustl.edu 37 1 160281732 160281732 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 160281732 160281732 G T SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.1002 p.H334Q 1.000 pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 tier1 - - 52 0 0.00 67 4 5.63 COPS6 0 genome.wustl.edu 37 7 99688230 99688230 + Nonsense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 99688230 99688230 G T SNP COPS6 ENST00000303904 human ensembl 74_37 +1 known nonsense c.439 p.E147* 0.998 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS6 HGNC ENSG00000168090 70 0 0.00 38 2 5.00 CPS1 0 genome.wustl.edu 37 2 211525224 211525224 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 211525224 211525224 T A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3790 p.L1264M 0.980 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 32 0 0.00 36 15 29.41 CTAGE1 0 genome.wustl.edu 37 18 19996550 19996550 + Nonsense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 18 19996550 19996550 T A SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known nonsense c.1225 p.K409* 0.995 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 tier1 - - 148 0 0.00 99 36 26.67 CTSD 0 genome.wustl.edu 37 11 1782688 1782688 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 1782688 1782688 G A SNP CTSD ENST00000236671 human ensembl 74_37 -1 known missense c.79 p.H27Y 0.992 pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 tier1 - - 112 0 0.00 60 4 6.15 CTSL3P 0 genome.wustl.edu 37 9 90388134 90388134 + RNA SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 90388134 90388134 G T SNP CTSL3P ENST00000354530 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTSL3P HGNC ENSG00000188029 tier1 - - 114 0 0.00 91 13 12.50 CUL9 0 genome.wustl.edu 37 6 43164484 43164484 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 43164484 43164484 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.2687 p.T896M 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 45 0 0.00 36 2 5.13 CWH43 0 genome.wustl.edu 37 4 48996726 48996726 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 48996726 48996726 C A SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.602 p.A201D 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 tier1 - - 82 0 0.00 15 62 80.52 DAOA 0 genome.wustl.edu 37 13 106142176 106142176 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 106142176 106142176 G T SNP DAOA ENST00000595812 human ensembl 74_37 +1 known missense c.124 p.V42L 0.000 NULL NULL - no_errors DAOA HGNC ENSG00000182346 tier1 - - 36 0 0.00 18 16 47.06 DCAF12L1 0 genome.wustl.edu 37 X 125685850 125685850 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 125685850 125685850 T C SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.742 p.R248G 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 72 0 0.00 4 39 90.70 DCLK1 0 genome.wustl.edu 37 13 36521533 36521533 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 36521533 36521533 T G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.785 p.K262T 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 55 0 0.00 50 4 7.41 DDX50 0 genome.wustl.edu 37 10 70696800 70696800 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 70696800 70696800 C T SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known silent c.1704 p.H568 0.999 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 tier1 - - 42 0 0.00 27 12 30.77 DENND5B 0 genome.wustl.edu 37 12 31632565 31632565 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 31632565 31632565 T G SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known missense c.967 p.T323P 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 tier1 - - 27 0 0.00 41 5 10.87 DET1 0 genome.wustl.edu 37 15 89070882 89070882 + Nonsense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 89070882 89070882 G A SNP DET1 ENST00000444300 human ensembl 74_37 -1 known nonsense c.1252 p.Q418* 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 tier1 - - 55 0 0.00 31 14 30.43 DGAT1 0 genome.wustl.edu 37 8 145540826 145540827 + RNA DEL CA CA - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 145540826 145540827 CA - DEL DGAT1 ENST00000527438 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors DGAT1 HGNC ENSG00000185000 tier1 39 0 0.00 42 4 8.70 DGKD 0 genome.wustl.edu 37 2 234372820 234372820 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 234372820 234372820 C A SNP DGKD ENST00000264057 human ensembl 74_37 +1 known missense c.3197 p.P1066Q 0.999 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 22 0 0.00 33 2 5.71 DIP2A 0 genome.wustl.edu 37 21 47986589 47986589 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 21 47986589 47986589 G A SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.4459 p.A1487T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 39 0 0.00 20 2 9.09 DLG2 0 genome.wustl.edu 37 11 84245625 84245625 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 84245625 84245625 A C SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.507 p.I169M 0.996 pfam_MAGUK_PEST_N,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 47 0 0.00 20 15 42.86 DLG5 0 genome.wustl.edu 37 10 79566671 79566671 + Silent SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 79566671 79566671 C A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known silent c.4812 p.R1604 0.148 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 tier1 - - 58 0 0.00 18 7 28.00 DLX5 0 genome.wustl.edu 37 7 96651664 96651664 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 96651664 96651664 G A SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.373 p.P125S 1.000 NULL pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 43 0 0.00 40 3 6.98 DNAH14 0 genome.wustl.edu 37 1 225156468 225156468 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 225156468 225156468 A G SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.659 p.N220S 0.028 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 91 0 0.00 43 26 37.68 DOPEY2 0 genome.wustl.edu 37 21 37652633 37652633 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 21 37652633 37652633 A T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.6020 p.K2007M 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 70 0 0.00 55 4 6.78 DUSP6 0 genome.wustl.edu 37 12 89745661 89745661 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 89745661 89745661 C T SNP DUSP6 ENST00000279488 human ensembl 74_37 -1 known silent c.156 p.S52 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP6 HGNC ENSG00000139318 13 0 0.00 24 4 14.29 DYTN 0 genome.wustl.edu 37 2 207530608 207530608 + Silent SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 207530608 207530608 T G SNP DYTN ENST00000452335 human ensembl 74_37 -1 known silent c.1126 p.R376 0.049 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 tier1 - - 82 0 0.00 82 7 7.87 DZANK1 0 genome.wustl.edu 37 20 18414185 18414186 + RNA INS - - A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 18414185 18414186 - A INS DZANK1 ENST00000460891 human ensembl 74_37 -1 known rna NULL NULL 0.008:0.014 - - - no_errors DZANK1 HGNC ENSG00000089091 tier1 12 0 0.00 23 4 14.81 EDC3 0 genome.wustl.edu 37 15 74963903 74963903 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 74963903 74963903 T G SNP EDC3 ENST00000315127 human ensembl 74_37 -1 known missense c.377 p.Q126P 0.382 NULL pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 42 0 0.00 34 2 5.56 EGFR 0 genome.wustl.edu 37 7 55229240 55229240 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 55229240 55229240 G T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.1547 p.W516L 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 47 0 0.00 67 4 5.63 ELTD1 0 genome.wustl.edu 37 1 79387436 79387436 + Nonsense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 79387436 79387436 C T SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known nonsense c.1119 p.W373* 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 tier1 - - 48 0 0.00 17 22 56.41 ELTD1 0 genome.wustl.edu 37 1 79404882 79404882 + Silent SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 79404882 79404882 A C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.387 p.T129 0.945 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 tier1 - - 56 0 0.00 26 28 51.85 ENSG00000161103 0 genome.wustl.edu 37 22 18846026 18846026 + RNA SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 22 18846026 18846026 C A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 308 0 0.00 275 20 6.78 ENSG00000197210 0 genome.wustl.edu 37 22 21470345 21470345 + RNA SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 22 21470345 21470345 G T SNP ENSG00000197210 ENST00000420508 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000197210 tier1 - - 107 0 0.00 117 19 13.97 ENSG00000205740 0 genome.wustl.edu 37 10 1018854 1018854 + Silent SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 1018854 1018854 A G SNP ENSG00000205740 ENST00000381466 human ensembl 74_37 -1 known silent c.18 p.T6 0.000 NULL NULL - no_errors AL359878.1 Clone_based_ensembl_gene ENSG00000205740 tier1 - - 25 0 0.00 26 6 18.75 ENSG00000214915 0 genome.wustl.edu 37 X 150684613 150684613 + RNA SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 150684613 150684613 A T SNP ENSG00000214915 ENST00000454307 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors XX-FW80269A6.1 Clone_based_vega_gene ENSG00000214915 tier1 - - 35 0 0.00 9 18 66.67 ENSG00000215398 0 genome.wustl.edu 37 14 19114837 19114837 + RNA SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 19114837 19114837 T G SNP ENSG00000215398 ENST00000553170 human ensembl 74_37 +1 known rna NULL NULL 0.578 - - - no_errors RP11-754I20.1 Clone_based_vega_gene ENSG00000215398 tier1 - - 308 0 0.00 237 54 18.49 ENSG00000234531 0 genome.wustl.edu 37 10 134596907 134596907 + RNA SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 134596907 134596907 A G SNP ENSG00000234531 ENST00000441365 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-288G11.3 Clone_based_vega_gene ENSG00000234531 tier1 - - 65 0 0.00 46 4 8.00 ENSG00000234978 0 genome.wustl.edu 37 1 142803582 142803582 + RNA SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 142803582 142803582 A C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 - - 708 0 0.00 506 45 8.17 ENSG00000250410 0 genome.wustl.edu 37 4 186291988 186291988 + RNA SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 186291988 186291988 T C SNP ENSG00000250410 ENST00000514884 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-714G18.1 Clone_based_vega_gene ENSG00000250410 tier1 - - 40 0 0.00 45 4 8.16 ENSG00000251893 0 genome.wustl.edu 37 12 76083072 76083072 + RNA SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 76083072 76083072 T G SNP ENSG00000251893 ENST00000516084 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA70 RFAM ENSG00000251893 tier1 - - 19 0 0.00 13 6 31.58 ENSG00000259455 0 genome.wustl.edu 37 15 23412175 23412175 + Silent SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 23412175 23412175 A C SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel silent c.282 p.T94 0.150 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 tier1 - - 403 0 0.00 50 132 72.13 ENSG00000267449 0 genome.wustl.edu 37 17 59147352 59147352 + RNA SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 59147352 59147352 C T SNP ENSG00000267449 ENST00000593107 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-264B14.2 Clone_based_vega_gene ENSG00000267449 tier1 - - 86 0 0.00 61 15 19.74 EP400 0 genome.wustl.edu 37 12 132530056 132530056 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 132530056 132530056 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.7085 p.G2362D 0.958 superfamily_Homeodomain-like,pfscan_Myb-like_dom pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 41 0 0.00 19 2 9.52 EPHA4 0 genome.wustl.edu 37 2 222284094 222284094 + RNA SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 222284094 222284094 A G SNP EPHA4 ENST00000469354 human ensembl 74_37 -1 putative rna NULL NULL 0.990 - - - no_errors EPHA4 HGNC ENSG00000116106 tier1 - - 71 0 0.00 57 12 17.39 ERC2 0 genome.wustl.edu 37 3 55543067 55543067 + RNA SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 55543067 55543067 A G SNP ERC2 ENST00000486496 human ensembl 74_37 -1 known rna NULL NULL 0.950 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 37 0 0.00 26 18 40.91 ERCC6L2 0 genome.wustl.edu 37 9 98774580 98774580 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 98774580 98774580 G A SNP ERCC6L2 ENST00000407474 human ensembl 74_37 +1 known missense c.691 p.A231T 0.965 NULL NULL - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 58 0 0.00 58 22 27.50 ERO1LB 0 genome.wustl.edu 37 1 236433178 236433178 + Nonsense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 236433178 236433178 G C SNP ERO1LB ENST00000354619 human ensembl 74_37 -1 known nonsense c.219 p.Y73* 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1LB HGNC ENSG00000086619 tier1 - - 241 0 0.00 160 27 14.44 ESRP1 0 genome.wustl.edu 37 8 95704982 95704982 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 95704982 95704982 C G SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.1898 p.T633R 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 - - 89 0 0.00 50 8 13.79 EXOC5 0 genome.wustl.edu 37 14 57696600 57696600 + Splice_Site SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 57696600 57696600 C T SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known splice_site c.1149-1 e12-1 1.000 - - - no_errors EXOC5 HGNC ENSG00000070367 44 0 0.00 42 7 14.29 FAM155A 0 genome.wustl.edu 37 13 107822984 107822984 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 107822984 107822984 C T SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.1238 p.C413Y 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 tier1 - - 54 0 0.00 50 10 16.39 FAM214B 0 genome.wustl.edu 37 9 35107913 35107913 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 35107913 35107913 T C SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.359 p.H120R 0.996 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 tier1 - - 111 0 0.00 119 7 5.56 FAM47C 0 genome.wustl.edu 37 X 37029016 37029016 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 37029016 37029016 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2533 p.R845C 0.137 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 52 0 0.00 14 35 71.43 FAM9C 0 genome.wustl.edu 37 X 13058886 13058886 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 13058886 13058886 T C SNP FAM9C ENST00000333995 human ensembl 74_37 -1 known missense c.320 p.Q107R 0.001 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors FAM9C HGNC ENSG00000187268 tier1 - - 42 0 0.00 22 3 12.00 FAT3 0 genome.wustl.edu 37 11 92498156 92498156 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 92498156 92498156 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.4096 p.F1366V 0.987 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 31 0 0.00 15 13 46.43 FBF1 0 genome.wustl.edu 37 17 73936884 73936884 + RNA SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 73936884 73936884 G A SNP FBF1 ENST00000588478 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FBF1 HGNC ENSG00000188878 tier1 - - 43 0 0.00 36 18 33.33 FIGN 0 genome.wustl.edu 37 2 164592486 164592486 + RNA SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 164592486 164592486 G T SNP FIGN ENST00000482917 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FIGN HGNC ENSG00000182263 tier1 - - 38 0 0.00 36 4 10.00 FLJ41200 0 genome.wustl.edu 37 9 13431273 13431273 + RNA SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 13431273 13431273 G A SNP FLJ41200 ENST00000604724 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-536O18.2 Clone_based_vega_gene ENSG00000270547 tier1 - - 35 0 0.00 50 6 10.71 FMO6P 0 genome.wustl.edu 37 1 171116828 171116828 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 171116828 171116828 A G SNP FMO6P ENST00000236166 human ensembl 74_37 +1 novel missense c.548 p.K183R 0.443 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1 - no_errors FMO6P HGNC ENSG00000117507 tier1 - - 56 0 0.00 52 4 7.14 FN1 0 genome.wustl.edu 37 2 216245755 216245755 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 216245755 216245755 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.5213 p.S1738F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 37 0 0.00 38 2 5.00 FN3K 0 genome.wustl.edu 37 17 80708330 80708330 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 80708330 80708330 T C SNP FN3K ENST00000300784 human ensembl 74_37 +1 known missense c.629 p.V210A 1.000 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 tier1 - - 40 0 0.00 40 23 36.51 FNDC3B 0 genome.wustl.edu 37 3 171904580 171904580 + RNA SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 171904580 171904580 T C SNP FNDC3B ENST00000476794 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FNDC3B HGNC ENSG00000075420 tier1 - - 80 0 0.00 34 50 59.52 FOXN3 0 genome.wustl.edu 37 14 89629287 89629287 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 89629287 89629287 C T SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known missense c.944 p.R315Q 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 tier1 - - 52 0 0.00 27 41 60.29 FOXS1 0 genome.wustl.edu 37 20 30432968 30432968 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 30432968 30432968 G A SNP FOXS1 ENST00000375978 human ensembl 74_37 -1 known silent c.378 p.P126 0.011 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 tier1 - - 62 0 0.00 71 13 15.48 FRMD7 0 genome.wustl.edu 37 X 131212756 131212756 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 131212756 131212756 T A SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known missense c.1289 p.N430I 0.000 NULL pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 tier1 - - 21 0 0.00 4 11 73.33 FRY 0 genome.wustl.edu 37 13 32753153 32753153 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 32753153 32753153 G T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.2854 p.V952L 0.957 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 67 0 0.00 74 9 10.84 FSTL3 0 genome.wustl.edu 37 19 677855 677855 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 677855 677855 T A SNP FSTL3 ENST00000166139 human ensembl 74_37 +1 known missense c.167 p.V56D 1.000 superfamily_TB_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FSTL3 HGNC ENSG00000070404 tier1 - - 63 0 0.00 18 49 73.13 GALNT7 0 genome.wustl.edu 37 4 174216555 174216555 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 174216555 174216555 A C SNP GALNT7 ENST00000265000 human ensembl 74_37 +1 known missense c.763 p.K255Q 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 tier1 - - 72 0 0.00 32 11 25.58 GALNT8 0 genome.wustl.edu 37 12 4854630 4854630 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 4854630 4854630 G A SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.896 p.R299H 0.899 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 tier1 rs200878740 - 60 0 0.00 65 4 5.80 GAPVD1 0 genome.wustl.edu 37 9 128112613 128112613 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 128112613 128112613 G T SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known silent c.3420 p.A1140 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 tier1 - - 52 0 0.00 63 4 5.97 GAS7 0 genome.wustl.edu 37 17 9837516 9837516 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 9837516 9837516 G A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known silent c.852 p.D284 0.672 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 tier1 - - 44 0 0.00 31 20 39.22 GBF1 0 genome.wustl.edu 37 10 104129939 104129939 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 104129939 104129939 C A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.3345 p.D1115E 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 51 0 0.00 38 2 5.00 GCNT7 0 genome.wustl.edu 37 20 55071958 55071958 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 55071958 55071958 T C SNP GCNT7 ENST00000243913 human ensembl 74_37 -1 putative missense c.341 p.Q114R 0.998 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT7 HGNC ENSG00000124091 tier1 - - 61 0 0.00 52 4 7.14 GCSAM 0 genome.wustl.edu 37 3 111842603 111842603 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 111842603 111842603 G C SNP GCSAM ENST00000308910 human ensembl 74_37 -1 known missense c.236 p.T79S 0.000 NULL NULL - no_errors GCSAM HGNC ENSG00000174500 28 0 0.00 23 7 23.33 GDF5 0 genome.wustl.edu 37 20 34022031 34022031 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 34022031 34022031 C T SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known silent c.1182 p.K394 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 tier1 - - 44 0 0.00 24 6 20.00 GPATCH8 0 genome.wustl.edu 37 17 42474987 42474987 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 42474987 42474987 G C SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.4458 p.H1486Q 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 tier1 - - 47 0 0.00 24 32 57.14 GPC6 0 genome.wustl.edu 37 13 94482410 94482410 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 94482410 94482410 T G SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.323 p.F108C 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 75 0 0.00 45 26 36.62 GRAMD1B 0 genome.wustl.edu 37 11 123489864 123489864 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 123489864 123489864 A G SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.2059 p.K687E 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 tier1 - - 37 0 0.00 20 5 20.00 GRIA3 0 genome.wustl.edu 37 X 122551518 122551518 + Frame_Shift_Del DEL A A - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 122551518 122551518 A - DEL GRIA3 ENST00000264357 human ensembl 74_37 +1 known frame_shift_del c.1766 p.E589fs 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 tier1 30 0 0.00 41 4 8.89 GRIK4 0 genome.wustl.edu 37 11 120833225 120833225 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 120833225 120833225 G T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.2101 p.V701L 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 49 0 0.00 23 2 8.00 GRM5 0 genome.wustl.edu 37 11 88583156 88583156 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 88583156 88583156 A C SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.829 p.F277V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 80 0 0.00 45 32 41.56 GTF2IRD2P1 0 genome.wustl.edu 37 7 72657293 72657293 + RNA SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 72657293 72657293 T C SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 - - 117 0 0.00 78 26 25.00 HBG2 0 genome.wustl.edu 37 11 5274579 5274579 + Silent SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 5274579 5274579 G C SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known silent c.372 p.T124 0.625 superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 tier1 - - 62 0 0.00 18 13 41.94 HDAC4 0 genome.wustl.edu 37 2 240085519 240085519 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 240085519 240085519 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known silent c.591 p.S197 0.156 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 38 0 0.00 47 3 6.00 HEATR1 0 genome.wustl.edu 37 1 236719125 236719125 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 236719125 236719125 A C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5629 p.F1877V 1.000 pfam_BP28_C_dom,superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 31 0 0.00 23 10 30.30 HECA 0 genome.wustl.edu 37 6 139487871 139487871 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 139487871 139487871 G T SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.722 p.R241L 0.997 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 36 0 0.00 37 2 5.13 HERC1 0 genome.wustl.edu 37 15 63908868 63908868 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 63908868 63908868 G T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.13702 p.P4568T 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 69 0 0.00 58 4 6.45 HILPDA 0 genome.wustl.edu 37 7 128097964 128097964 + RNA DEL A A - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 128097964 128097964 A - DEL HILPDA ENST00000466473 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors HILPDA HGNC ENSG00000135245 tier1 23 0 0.00 25 3 10.71 HOXC12 0 genome.wustl.edu 37 12 54350293 54350293 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 54350293 54350293 C T SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known silent c.792 p.N264 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 57 0 0.00 57 4 6.56 HSPA12A 0 genome.wustl.edu 37 10 118460528 118460528 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 118460528 118460528 G A SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.367 p.H123Y 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 tier1 - - 40 0 0.00 27 12 30.77 HTR1E 0 genome.wustl.edu 37 6 87725488 87725488 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 87725488 87725488 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.436 p.V146I 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 rs200719637 - 27 0 0.00 21 10 32.26 IL12RB2 0 genome.wustl.edu 37 1 67816572 67816572 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 67816572 67816572 C G SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.1058 p.A353G 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 24 0 0.00 23 3 11.54 IL17RE 0 genome.wustl.edu 37 3 9948053 9948053 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 9948053 9948053 C G SNP IL17RE ENST00000421412 human ensembl 74_37 +1 known missense c.373 p.Q125E 0.072 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 tier1 - - 75 0 0.00 40 16 28.57 IL7R 0 genome.wustl.edu 37 5 35876525 35876525 + Silent SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 35876525 35876525 T G SNP IL7R ENST00000303115 human ensembl 74_37 +1 known silent c.1317 p.T439 0.005 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 tier1 - - 52 0 0.00 119 32 21.19 ITCH 0 genome.wustl.edu 37 20 33068499 33068499 + Silent SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 33068499 33068499 T C SNP ITCH ENST00000262650 human ensembl 74_37 +1 known silent c.2037 p.S679 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors ITCH HGNC ENSG00000078747 tier1 - - 46 0 0.00 67 4 5.63 ITGA2 0 genome.wustl.edu 37 5 52385789 52385789 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 52385789 52385789 T G SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.3362 p.I1121R 0.984 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 tier1 - - 89 0 0.00 157 16 9.25 ITIH1 0 genome.wustl.edu 37 3 52818319 52818319 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 52818319 52818319 G A SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known silent c.1233 p.T411 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 tier1 - - 53 0 0.00 20 26 56.52 ITPR1 0 genome.wustl.edu 37 3 4856144 4856144 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 4856144 4856144 G T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.7554 p.E2518D 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 43 0 0.00 42 3 6.67 ITSN1 0 genome.wustl.edu 37 21 35122555 35122555 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 21 35122555 35122555 A G SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.454 p.T152A 0.002 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 tier1 - - 51 0 0.00 59 4 6.35 IVNS1ABP 0 genome.wustl.edu 37 1 185270340 185270340 + RNA SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 185270340 185270340 A G SNP IVNS1ABP ENST00000494880 human ensembl 74_37 -1 known rna NULL NULL 0.910 - - - no_errors IVNS1ABP HGNC ENSG00000116679 tier1 - - 27 0 0.00 23 14 37.84 JAK1 0 genome.wustl.edu 37 1 65332731 65332731 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 65332731 65332731 A G SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.808 p.Y270H 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 tier1 - - 59 0 0.00 21 36 63.16 JAKMIP3 0 genome.wustl.edu 37 10 133955458 133955458 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 133955458 133955458 G C SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.1508 p.R503P 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 86 0 0.00 71 13 15.48 JPH4 0 genome.wustl.edu 37 14 24045177 24045177 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 24045177 24045177 G A SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known missense c.868 p.R290W 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 tier1 - - 10 0 0.00 7 4 36.36 KANK1 0 genome.wustl.edu 37 9 732675 732675 + RNA SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 732675 732675 T G SNP KANK1 ENST00000489369 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 50 0 0.00 31 20 39.22 KCNT2 0 genome.wustl.edu 37 1 196250003 196250003 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 196250003 196250003 A G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2897 p.L966P 0.977 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 34 0 0.00 16 24 60.00 KCNV1 0 genome.wustl.edu 37 8 110980794 110980794 + Silent SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 110980794 110980794 A G SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known silent c.1026 p.C342 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 20 0 0.00 9 4 30.77 KIAA1549L 0 genome.wustl.edu 37 11 33565560 33565560 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 33565560 33565560 A C SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.1560 p.E520D 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 51 0 0.00 43 27 38.57 KIAA1598 0 genome.wustl.edu 37 10 118681020 118681020 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 118681020 118681020 T A SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known missense c.1120 p.M374L 1.000 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 tier1 - - 37 0 0.00 36 8 18.18 KIF2C 0 genome.wustl.edu 37 1 45221617 45221617 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 45221617 45221617 T C SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.776 p.I259T 1.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 32 0 0.00 39 4 9.30 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 89559 89559 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e GL000209.1 89559 89559 C T SNP KIR2DL2 ENST00000391731 human ensembl 74_37 +1 known silent c.444 p.S148 NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 tier1 - - 84 0 0.00 135 9 6.25 KIRREL3-AS3 0 genome.wustl.edu 37 11 126873697 126873697 + RNA SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 126873697 126873697 A C SNP KIRREL3-AS3 ENST00000525678 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIRREL3-AS3 HGNC ENSG00000218109 41 0 0.00 17 3 15.00 KLHL42 0 genome.wustl.edu 37 12 27944734 27944734 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 27944734 27944734 T G SNP KLHL42 ENST00000381271 human ensembl 74_37 +1 known missense c.966 p.D322E 0.989 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 tier1 - - 67 0 0.00 74 8 9.76 KMT2C 0 genome.wustl.edu 37 7 151843811 151843811 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 151843811 151843811 T A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.14075 p.D4692V 1.000 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 42 0 0.00 29 9 23.68 KMT2D 0 genome.wustl.edu 37 12 49445150 49445150 + Silent SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 49445150 49445150 G C SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.2316 p.P772 0.275 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,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_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 58 0 0.00 26 29 51.79 KPNA1 0 genome.wustl.edu 37 3 122146408 122146408 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 122146408 122146408 C T SNP KPNA1 ENST00000344337 human ensembl 74_37 -1 known missense c.1406 p.C469Y 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 tier1 - - 44 0 0.00 29 18 38.30 KRT12 0 genome.wustl.edu 37 17 39020020 39020020 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 39020020 39020020 G A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.904 p.R302W 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 48 0 0.00 32 4 11.11 KRT6C 0 genome.wustl.edu 37 12 52865858 52865858 + Silent SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 52865858 52865858 G C SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known silent c.747 p.L249 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 tier1 - - 74 0 0.00 29 36 55.38 KRTAP24-1 0 genome.wustl.edu 37 21 31655245 31655245 + Silent SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 21 31655245 31655245 A G SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known silent c.6 p.P2 0.000 NULL pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 tier1 - - 21 0 0.00 11 5 31.25 L1TD1 0 genome.wustl.edu 37 1 62675655 62675657 + In_Frame_Del DEL GGA GGA - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 62675655 62675657 GGA - DEL L1TD1 ENST00000498273 human ensembl 74_37 +1 known in_frame_del c.1209_1211 p.E407in_frame_del 0.002:0.001:0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 tier1 31 0 0.00 23 3 11.54 LANCL1 0 genome.wustl.edu 37 2 211302544 211302544 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 211302544 211302544 A G SNP LANCL1 ENST00000233714 human ensembl 74_37 -1 known missense c.743 p.V248A 1.000 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 tier1 - - 39 0 0.00 35 14 28.57 LFNG 0 genome.wustl.edu 37 7 2552880 2552880 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 2552880 2552880 C T SNP LFNG ENST00000402506 human ensembl 74_37 +1 putative missense c.137 p.T46I 0.003 NULL pfam_Fringe-like - no_errors LFNG HGNC ENSG00000106003 35 0 0.00 70 5 6.67 LGI2 0 genome.wustl.edu 37 4 25028544 25028544 + Nonsense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 25028544 25028544 G T SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known nonsense c.287 p.S96* 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 19 0 0.00 26 2 7.14 LIPN 0 genome.wustl.edu 37 10 90528548 90528548 + Splice_Site SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 90528548 90528548 G C SNP LIPN ENST00000404459 human ensembl 74_37 +1 known splice_site c.536-1 e5-1 1.000 - - - no_errors LIPN HGNC ENSG00000204020 tier1 - - 60 0 0.00 32 18 35.29 LONP1 0 genome.wustl.edu 37 19 5696723 5696723 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 5696723 5696723 C G SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.1731 p.L577F 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 77 0 0.00 71 4 5.33 LPHN3 0 genome.wustl.edu 37 4 62813834 62813834 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 62813834 62813834 T C SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2645 p.F882S 1.000 smart_GPS_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 35 0 0.00 6 20 76.92 LRRC16B 0 genome.wustl.edu 37 14 24524274 24524274 + Splice_Site SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 24524274 24524274 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known splice_site c.461-1 e7-1 1.000 - - - no_errors LRRC16B HGNC ENSG00000186648 62 0 0.00 48 3 5.88 LRRC32 0 genome.wustl.edu 37 11 76371138 76371138 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 76371138 76371138 C T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1499 p.G500D 0.997 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 32 0 0.00 16 6 27.27 LRRC4C 0 genome.wustl.edu 37 11 40137493 40137493 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 40137493 40137493 A C SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.350 p.I117S 0.991 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 44 0 0.00 32 9 21.95 LRRIQ1 0 genome.wustl.edu 37 12 85517961 85517961 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 85517961 85517961 A T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.3671 p.K1224M 0.012 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 31 0 0.00 32 12 27.27 LSR 0 genome.wustl.edu 37 19 35758274 35758274 + Silent SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 35758274 35758274 T G SNP LSR ENST00000361790 human ensembl 74_37 +1 known silent c.1551 p.G517 0.945 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 9 0 0.00 15 2 11.76 LUZP2 0 genome.wustl.edu 37 11 24759804 24759804 + Nonsense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 24759804 24759804 C T SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known nonsense c.289 p.Q97* 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 77 0 0.00 56 4 6.67 MAGEB5 0 genome.wustl.edu 37 X 26236218 26236218 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 26236218 26236218 A C SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known missense c.800 p.K267T 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 45 0 0.00 5 20 80.00 MALAT1 0 genome.wustl.edu 37 11 65267814 65267814 + RNA SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 65267814 65267814 G A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 43 0 0.00 24 17 41.46 MAML3 0 genome.wustl.edu 37 4 140811438 140811438 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 140811438 140811438 G T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1152 p.P384 0.997 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 30 0 0.00 15 6 28.57 MAMLD1 0 genome.wustl.edu 37 X 149638884 149638884 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 149638884 149638884 C A SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.964 p.H322N 0.940 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 tier1 - - 32 0 0.00 6 16 72.73 MANEAL 0 genome.wustl.edu 37 1 38265722 38265722 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 38265722 38265722 G C SNP MANEAL ENST00000373045 human ensembl 74_37 +1 known missense c.1221 p.W407C 1.000 NULL NULL - no_errors MANEAL HGNC ENSG00000185090 tier1 - - 44 0 0.00 42 13 23.64 MAP2 0 genome.wustl.edu 37 2 210595014 210595014 + Nonsense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 210595014 210595014 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known nonsense c.5377 p.R1793* 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 28 0 0.00 21 21 50.00 MAP2K5 0 genome.wustl.edu 37 15 68061972 68061972 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 68061972 68061972 G A SNP MAP2K5 ENST00000178640 human ensembl 74_37 +1 known silent c.1167 p.S389 0.719 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K5 HGNC ENSG00000137764 tier1 rs149823125 - 53 0 0.00 26 7 21.21 MBD5 0 genome.wustl.edu 37 2 149247238 149247238 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 149247238 149247238 A C SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.3338 p.Q1113P 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 tier1 - - 51 0 0.00 46 19 29.23 METTL12 0 genome.wustl.edu 37 11 62434850 62434850 + RNA SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 62434850 62434850 C T SNP METTL12 ENST00000398922 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors METTL12 HGNC ENSG00000214756 tier1 - - 20 0 0.00 11 3 21.43 MEX3A 0 genome.wustl.edu 37 1 156047381 156047381 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 156047381 156047381 G A SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.547 p.R183W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 tier1 - - 48 0 0.00 25 11 30.56 MFSD2B 0 genome.wustl.edu 37 2 24239739 24239739 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 24239739 24239739 C T SNP MFSD2B ENST00000338315 human ensembl 74_37 +1 known silent c.372 p.I124 0.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 tier1 - - 80 0 0.00 35 21 37.50 MIB2 0 genome.wustl.edu 37 1 1562725 1562725 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 1562725 1562725 T C SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.1769 p.L590P 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 63 0 0.00 64 4 5.80 MIR4435-1HG 0 genome.wustl.edu 37 2 112199091 112199091 + RNA SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 112199091 112199091 G A SNP MIR4435-1HG ENST00000603310 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4435-1HG HGNC ENSG00000172965 tier1 - - 34 0 0.00 15 34 69.39 MMP24 0 genome.wustl.edu 37 20 33862215 33862215 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 33862215 33862215 C T SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known missense c.1741 p.R581W 1.000 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 tier1 - - 40 0 0.00 27 11 28.95 MTNR1B 0 genome.wustl.edu 37 11 92714995 92714995 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 92714995 92714995 G T SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known silent c.606 p.A202 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 44 0 0.00 26 2 7.14 MTR 0 genome.wustl.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 237024474 237024474 A - DEL MTR ENST00000366577 human ensembl 74_37 +1 known frame_shift_del c.2093 p.K700fs 0.988 pfam_Cbl-bd_cap,superfamily_Cbl-bd_cap,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 52 0 0.00 32 6 15.79 MUC16 0 genome.wustl.edu 37 19 9085978 9085978 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 9085978 9085978 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5837 p.V1946G 0.794 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 56 0 0.00 16 50 75.76 MUC16 0 genome.wustl.edu 37 19 9086331 9086331 + Silent SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 9086331 9086331 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.5484 p.T1828 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 51 0 0.00 38 4 9.52 MUC19 0 genome.wustl.edu 37 12 40924259 40924259 + Splice_Site SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 40924259 40924259 G A SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.012 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 66 0 0.00 72 4 5.26 MUC6 0 genome.wustl.edu 37 11 1016198 1016200 + In_Frame_Del DEL AGA AGA - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 1016198 1016200 AGA - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.6603_6601 p.S2201in_frame_del 0.001:0.010:0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 28 0 0.00 12 9 42.86 MYADML 0 genome.wustl.edu 37 2 33951149 33951150 + RNA INS - - TTA TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 33951149 33951150 0 TTA INS MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.333:0.331 - - - no_errors MYADML HGNC ENSG00000239649 10 0 0.00 4 2 33.33 MYH1 0 genome.wustl.edu 37 17 10404070 10404070 + Splice_Site SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 10404070 10404070 C A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known splice_site c.3739-1 e26-1 1.000 - - - no_errors MYH1 HGNC ENSG00000109061 69 0 0.00 52 3 5.45 MYH7 0 genome.wustl.edu 37 14 23886717 23886717 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 23886717 23886717 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4348 p.D1450N 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 28 0 0.00 27 14 34.15 MYO1F 0 genome.wustl.edu 37 19 8587572 8587572 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 8587572 8587572 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.2996 p.P999L 0.986 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 tier1 - - 84 0 0.00 24 92 79.31 MYO3A 0 genome.wustl.edu 37 10 26436474 26436474 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 26436474 26436474 C G SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.2621 p.P874R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 22 0 0.00 16 2 11.11 MYOM2 0 genome.wustl.edu 37 8 2054306 2054306 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 2054306 2054306 G T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2917 p.D973Y 0.999 smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 39 0 0.00 24 2 7.69 NCAM1 0 genome.wustl.edu 37 11 113104002 113104002 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 113104002 113104002 A C SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known missense c.1626 p.E542D 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 40 0 0.00 21 2 8.70 NCF4 0 genome.wustl.edu 37 22 37273671 37273671 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 22 37273671 37273671 C T SNP NCF4 ENST00000248899 human ensembl 74_37 +1 known missense c.826 p.R276W 0.999 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 rs200598824 - 62 0 0.00 57 4 6.56 NCOA6 0 genome.wustl.edu 37 20 33329232 33329232 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 33329232 33329232 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.4828 p.A1610T 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 - - 70 0 0.00 38 34 47.22 NCOR1 0 genome.wustl.edu 37 17 16042327 16042327 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 16042327 16042327 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.1347 p.K449 0.998 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 25 0 0.00 17 3 15.00 NDST1 0 genome.wustl.edu 37 5 149900889 149900889 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 149900889 149900889 A T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.73 p.I25F 0.001 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 49 0 0.00 6 60 90.91 NID1 0 genome.wustl.edu 37 1 236156998 236156998 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 236156998 236156998 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2702 p.R901H 0.949 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 26 0 0.00 35 2 5.41 NIPBL 0 genome.wustl.edu 37 5 37020917 37020917 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 37020917 37020917 A T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.5266 p.I1756F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 50 0 0.00 77 8 9.41 NLGN4X 0 genome.wustl.edu 37 X 5827149 5827149 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 5827149 5827149 A G SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.817 p.S273P 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 82 0 0.00 54 8 12.70 NLRC5 0 genome.wustl.edu 37 16 57092939 57092939 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 16 57092939 57092939 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.3886 p.P1296S 0.779 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 36 0 0.00 31 2 6.06 NLRP7 0 genome.wustl.edu 37 19 55450465 55450465 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 55450465 55450465 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.1806 p.C602 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 tier1 - - 46 0 0.00 47 9 16.07 NOL4 0 genome.wustl.edu 37 18 31802193 31802193 + RNA SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 18 31802193 31802193 C A SNP NOL4 ENST00000587971 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 9 0 0.00 2 9 81.82 NOX3 0 genome.wustl.edu 37 6 155749958 155749958 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 155749958 155749958 T C SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known missense c.1115 p.Q372R 0.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 77 0 0.00 72 4 5.26 NRG1 0 genome.wustl.edu 37 8 32611911 32611911 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 32611911 32611911 A C SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.746 p.K249T 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 60 0 0.00 18 18 48.65 NRXN3 0 genome.wustl.edu 37 14 79746672 79746672 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 79746672 79746672 G A SNP NRXN3 ENST00000428277 human ensembl 74_37 +1 known missense c.38 p.R13H 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 79 0 0.00 48 20 29.41 NT5M 0 genome.wustl.edu 37 17 17209944 17209944 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 17209944 17209944 G T SNP NT5M ENST00000389022 human ensembl 74_37 +1 known missense c.355 p.A119S 1.000 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 43 0 0.00 24 2 7.41 NXPE2 0 genome.wustl.edu 37 11 114577404 114577404 + Silent SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 114577404 114577404 T C SNP NXPE2 ENST00000389586 human ensembl 74_37 +1 known silent c.1432 p.L478 0.001 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE2 HGNC ENSG00000204361 tier1 - - 69 0 0.00 37 4 9.76 OBSCN 0 genome.wustl.edu 37 1 228487826 228487826 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 228487826 228487826 C T SNP OBSCN ENST00000366707 human ensembl 74_37 +1 known missense c.3788 p.S1263L 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 37 0 0.00 28 5 15.15 OLFML2A 0 genome.wustl.edu 37 9 127549514 127549514 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 127549514 127549514 C T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known silent c.351 p.L117 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 tier1 - - 33 0 0.00 49 4 7.55 OR10X1 0 genome.wustl.edu 37 1 158549548 158549548 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 158549548 158549548 A G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.142 p.F48L 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 tier1 - - 29 0 0.00 26 19 42.22 OR2F1 0 genome.wustl.edu 37 7 143657084 143657084 + Silent SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 143657084 143657084 T C SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known silent c.21 p.T7 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 tier1 - - 65 0 0.00 38 5 11.63 OR2T33 0 genome.wustl.edu 37 1 248436926 248436926 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 248436926 248436926 A C SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.191 p.L64R 0.928 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 tier1 - - 101 0 0.00 82 28 25.45 OR4A15 0 genome.wustl.edu 37 11 55136271 55136271 + Silent SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 55136271 55136271 T G SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known silent c.912 p.T304 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 66 0 0.00 48 4 7.69 OR4C16 0 genome.wustl.edu 37 11 55340225 55340225 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 55340225 55340225 A G SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.622 p.S208G 0.068 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 91 0 0.00 45 25 35.71 OR51F1 0 genome.wustl.edu 37 11 4790663 4790663 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 4790663 4790663 A C SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.506 p.L169R 0.102 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 tier1 - - 31 0 0.00 20 5 20.00 OR8D2 0 genome.wustl.edu 37 11 124189303 124189303 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 124189303 124189303 G T SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.791 p.S264Y 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 32 0 0.00 33 2 5.71 OR8H2 0 genome.wustl.edu 37 11 55873364 55873364 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 55873364 55873364 T G SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.846 p.I282M 0.163 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 tier1 - - 75 0 0.00 35 22 38.60 PARP4 0 genome.wustl.edu 37 13 24995335 24995335 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 24995335 24995335 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.5097 p.A1699 0.975 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 - - 25 0 0.00 17 10 37.04 PASD1 0 genome.wustl.edu 37 X 150780178 150780178 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 150780178 150780178 A G SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.160 p.I54V 0.005 superfamily_PAS,smart_PAS,pfscan_PAS superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 - - 33 0 0.00 20 3 13.04 PASD1 0 genome.wustl.edu 37 X 150842603 150842603 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 150842603 150842603 A C SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.2120 p.N707T 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 - - 30 0 0.00 1 27 96.43 PCDH15 0 genome.wustl.edu 37 10 55582963 55582963 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 55582963 55582963 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4523 p.K1508R 0.621 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 47 0 0.00 25 16 39.02 PCDH15 0 genome.wustl.edu 37 10 55755405 55755405 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 55755405 55755405 T C SNP PCDH15 ENST00000373955 human ensembl 74_37 -1 novel missense c.2872 p.S958G 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 46 0 0.00 18 12 40.00 PCDH15 0 genome.wustl.edu 37 10 55973754 55973754 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 55973754 55973754 A G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1040 p.L347P 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 38 0 0.00 26 19 42.22 PCDHA10 0 genome.wustl.edu 37 5 140236574 140236574 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 140236574 140236574 C G SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.941 p.T314S 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 40 0 0.00 37 6 13.95 PCGF3 0 genome.wustl.edu 37 4 737326 737326 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 737326 737326 G A SNP PCGF3 ENST00000362003 human ensembl 74_37 +1 known silent c.327 p.K109 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 tier1 - - 39 0 0.00 6 34 85.00 PCLO 0 genome.wustl.edu 37 7 82586186 82586186 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 82586186 82586186 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4083 p.S1361R 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 55 0 0.00 36 2 5.26 PCNXL2 0 genome.wustl.edu 37 1 233397060 233397060 + Nonsense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 233397060 233397060 G T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known nonsense c.488 p.S163* 0.990 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 69 0 0.00 48 12 20.00 PCP2 0 genome.wustl.edu 37 19 7697660 7697660 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 7697660 7697660 G T SNP PCP2 ENST00000311069 human ensembl 74_37 -1 known missense c.108 p.D36E 0.342 pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC ENSG00000174788 tier1 - - 108 0 0.00 97 23 19.17 PDPN 0 genome.wustl.edu 37 1 13933737 13933737 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 13933737 13933737 C T SNP PDPN ENST00000294489 human ensembl 74_37 +1 known missense c.365 p.A122V 0.000 pfam_Podoplanin pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 56 0 0.00 54 3 5.26 PDPR 0 genome.wustl.edu 37 16 70187460 70187460 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 16 70187460 70187460 G C SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.2219 p.R740P 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 tier1 - - 107 0 0.00 83 8 8.79 PGBD4 0 genome.wustl.edu 37 15 34396391 34396391 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 34396391 34396391 G A SNP PGBD4 ENST00000397766 human ensembl 74_37 +1 known silent c.1659 p.K553 0.000 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 tier1 - - 37 0 0.00 19 3 13.64 PHLDB2 0 genome.wustl.edu 37 3 111603396 111603396 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 111603396 111603396 C A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.472 p.H158N 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 46 0 0.00 22 17 43.59 PLCB1 0 genome.wustl.edu 37 20 8782721 8782724 + Frame_Shift_Del DEL TTCT TTCT - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 TTCT TTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 8782721 8782724 TTCT - DEL PLCB1 ENST00000378637 human ensembl 74_37 +1 known frame_shift_del c.3442_3445 p.F1148fs 1.000:1.000:1.000:1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 78 0 0.00 188 23 10.90 PLCE1 0 genome.wustl.edu 37 10 96030305 96030305 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 96030305 96030305 G T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.4452 p.S1484 0.045 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 58 0 0.00 38 2 5.00 PNLIPRP3 0 genome.wustl.edu 37 10 118236172 118236172 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 118236172 118236172 T G SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1181 p.L394R 0.917 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 tier1 - - 52 0 0.00 31 15 32.61 POSTN 0 genome.wustl.edu 37 13 38154722 38154722 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 38154722 38154722 T G SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1505 p.K502T 0.767 superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 99 0 0.00 63 46 42.20 PPIEL 0 genome.wustl.edu 37 1 39991161 39991161 + RNA SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 39991161 39991161 G C SNP PPIEL ENST00000331856 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-69E11.4 Clone_based_vega_gene ENSG00000182109 tier1 - - 27 0 0.00 36 12 25.00 PPP2R5E 0 genome.wustl.edu 37 14 63861976 63861976 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 63861976 63861976 A T SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known missense c.708 p.N236K 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 tier1 - - 76 0 0.00 62 4 6.06 PRDM13 0 genome.wustl.edu 37 6 100056626 100056626 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 100056626 100056626 G T SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.154 p.V52L 1.000 pfscan_SET_dom smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 tier1 - - 88 0 0.00 103 8 7.21 PREX2 0 genome.wustl.edu 37 8 68934343 68934343 + Frame_Shift_Del DEL A A - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 68934343 68934343 A - DEL PREX2 ENST00000288368 human ensembl 74_37 +1 known frame_shift_del c.409 p.N137fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 42 0 0.00 31 13 29.55 PREX2 0 genome.wustl.edu 37 8 68934346 68934346 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 68934346 68934346 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.412 p.K138Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 41 0 0.00 29 14 32.56 PRICKLE1 0 genome.wustl.edu 37 12 42858541 42858541 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 42858541 42858541 G T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1295 p.P432H 0.999 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 31 0 0.00 54 4 6.90 PRIM2 0 genome.wustl.edu 37 6 57244771 57244771 + Silent SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 57244771 57244771 T C SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known silent c.532 p.L178 0.000 NULL pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 131 0 0.00 103 13 11.21 PRIMA1 0 genome.wustl.edu 37 14 94192344 94192344 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 94192344 94192344 G A SNP PRIMA1 ENST00000316227 human ensembl 74_37 -1 known missense c.368 p.A123V 0.973 NULL NULL - no_errors PRIMA1 HGNC ENSG00000175785 tier1 - - 31 0 0.00 40 4 9.09 PRKAA1 0 genome.wustl.edu 37 5 40767767 40767767 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 40767767 40767767 T C SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known missense c.667 p.I223V 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 tier1 - - 40 0 0.00 85 12 12.37 PRKXP1 0 genome.wustl.edu 37 15 101088125 101088126 + RNA INS - - T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 101088125 101088126 - T INS PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 31 0 0.00 26 3 10.34 PRL 0 genome.wustl.edu 37 6 22290493 22290493 + Silent SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 22290493 22290493 T C SNP PRL ENST00000306482 human ensembl 74_37 -1 known silent c.402 p.Q134 0.017 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 tier1 - - 17 0 0.00 17 8 32.00 PRMT6 0 genome.wustl.edu 37 1 107600103 107600103 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 107600103 107600103 C T SNP PRMT6 ENST00000370078 human ensembl 74_37 +1 known silent c.766 p.L256 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT6 HGNC ENSG00000198890 tier1 - - 35 0 0.00 35 17 32.69 PRR12 0 genome.wustl.edu 37 19 50098808 50098808 + Frame_Shift_Del DEL C C - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 50098808 50098808 C - DEL PRR12 ENST00000418929 human ensembl 74_37 +1 novel frame_shift_del c.1216 p.P408fs 0.210 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 24 0 0.00 27 2 6.90 PRUNE2 0 genome.wustl.edu 37 9 79318388 79318389 + Frame_Shift_Ins INS - - T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 79318388 79318389 - T INS PRUNE2 ENST00000428286 human ensembl 74_37 -1 known frame_shift_ins c.7064_7063 p.L2355fs 0.010:0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 45 0 0.00 17 3 15.00 PSMA8 0 genome.wustl.edu 37 18 23724574 23724574 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 18 23724574 23724574 G T SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known missense c.154 p.V52F 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 tier1 - - 55 0 0.00 56 4 6.67 PSMB6 0 genome.wustl.edu 37 17 4700750 4700750 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 4700750 4700750 G A SNP PSMB6 ENST00000270586 human ensembl 74_37 +1 known missense c.188 p.R63Q 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC ENSG00000142507 31 0 0.00 31 2 6.06 PTCHD4 0 genome.wustl.edu 37 6 47846773 47846773 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 47846773 47846773 T C SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.1807 p.I603V 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 - - 40 0 0.00 22 6 20.69 PTPRA 0 genome.wustl.edu 37 20 3005237 3005237 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 3005237 3005237 C T SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known silent c.1617 p.T539 1.000 pirsf_Tyr_Pase_rcpt_a/e-type pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 tier1 - - 50 0 0.00 136 18 11.61 PTPRE 0 genome.wustl.edu 37 10 129866416 129866416 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 129866416 129866416 G T SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.873 p.R291S 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 tier1 - - 53 0 0.00 32 19 37.25 PTPRK 0 genome.wustl.edu 37 6 128643411 128643411 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 128643411 128643411 T G SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.268 p.K90Q 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 32 0 0.00 25 4 13.79 PYROXD2 0 genome.wustl.edu 37 10 100157138 100157140 + In_Frame_Del DEL TCA TCA - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 100157138 100157140 TCA - DEL PYROXD2 ENST00000370575 human ensembl 74_37 -1 known in_frame_del c.589_587 p.M196in_frame_del 0.091:0.559:0.990 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 tier1 30 0 0.00 22 5 18.52 RAG2 0 genome.wustl.edu 37 11 36615296 36615296 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 36615296 36615296 G T SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known silent c.423 p.S141 1.000 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 tier1 - - 29 0 0.00 10 6 37.50 RBM10 0 genome.wustl.edu 37 X 47044965 47044965 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 47044965 47044965 G T SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.2291 p.C764F 1.000 pfscan_Znf_C2H2 pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 tier1 - - 14 0 0.00 10 9 47.37 RBM44 0 genome.wustl.edu 37 2 238725989 238725990 + Frame_Shift_Ins INS - - T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 238725989 238725990 - T INS RBM44 ENST00000316997 human ensembl 74_37 +1 known frame_shift_ins c.430_431 p.N147fs 0.000:0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 tier1 72 0 0.00 46 40 46.51 RBMXL3 0 genome.wustl.edu 37 X 114426914 114426914 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 114426914 114426914 T G SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.2910 p.S970R 0.002 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 - - 35 0 0.00 23 7 23.33 RFFL 0 genome.wustl.edu 37 17 33353417 33353417 + Silent SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 33353417 33353417 A G SNP RFFL ENST00000315249 human ensembl 74_37 -1 known silent c.156 p.A52 0.798 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 tier1 - - 40 0 0.00 40 7 14.89 RIMS2 0 genome.wustl.edu 37 8 105025817 105025817 + Silent SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 105025817 105025817 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.3192 p.G1064 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 51 0 0.00 21 26 55.32 RING1 0 genome.wustl.edu 37 6 33177715 33177715 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 33177715 33177715 G T SNP RING1 ENST00000374656 human ensembl 74_37 +1 known missense c.263 p.R88L 0.989 pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 45 0 0.00 41 3 6.82 RMDN1 0 genome.wustl.edu 37 8 87517307 87517307 + RNA SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 87517307 87517307 C A SNP RMDN1 ENST00000518772 human ensembl 74_37 -1 putative rna NULL NULL 0.934 - - - no_errors RMDN1 HGNC ENSG00000176623 tier1 - - 53 0 0.00 52 4 7.14 RUVBL2 0 genome.wustl.edu 37 19 49510282 49510282 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 49510282 49510282 G T SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known silent c.273 p.A91 0.687 pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 34 0 0.00 28 2 6.67 RYR2 0 genome.wustl.edu 37 1 237659920 237659920 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 237659920 237659920 A C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.2065 p.T689P 0.994 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 74 0 0.00 33 22 40.00 SCARNA15 0 genome.wustl.edu 37 15 83424704 83424704 + RNA SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 83424704 83424704 C T SNP SCARNA15 ENST00000516881 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SCARNA15 HGNC ENSG00000252690 tier1 - - 56 0 0.00 26 6 18.75 SDK1 0 genome.wustl.edu 37 7 4169634 4169634 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 4169634 4169634 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4034 p.K1345R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 39 0 0.00 37 30 44.12 SERPINB9 0 genome.wustl.edu 37 6 2890433 2890433 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 2890433 2890433 G C SNP SERPINB9 ENST00000380698 human ensembl 74_37 -1 known missense c.1095 p.N365K 0.094 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 tier1 - - 35 0 0.00 36 16 30.77 SETBP1 0 genome.wustl.edu 37 18 42281628 42281628 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 18 42281628 42281628 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.317 p.K106R 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 52 0 0.00 61 5 7.58 SETD5 0 genome.wustl.edu 37 3 9482266 9482266 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 9482266 9482266 G A SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.694 p.A232T 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 tier1 - - 71 0 0.00 33 14 29.79 SGCG 0 genome.wustl.edu 37 13 23853606 23853606 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 23853606 23853606 T G SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.494 p.L165R 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 tier1 - - 28 0 0.00 27 13 32.50 SI 0 genome.wustl.edu 37 3 164735779 164735779 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 164735779 164735779 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.3499 p.L1167V 0.691 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 46 0 0.00 42 35 45.45 SIGLEC9 0 genome.wustl.edu 37 19 51633330 51633330 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 51633330 51633330 C T SNP SIGLEC9 ENST00000250360 human ensembl 74_37 +1 known silent c.1386 p.H462 0.009 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 tier1 - - 44 0 0.00 48 4 7.69 SIL1 0 genome.wustl.edu 37 5 138286898 138286898 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 138286898 138286898 G A SNP SIL1 ENST00000265195 human ensembl 74_37 -1 known missense c.991 p.R331C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 83 0 0.00 44 3 6.38 SIM2 0 genome.wustl.edu 37 21 38115737 38115737 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 21 38115737 38115737 G A SNP SIM2 ENST00000290399 human ensembl 74_37 +1 known missense c.1048 p.A350T 0.784 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM2 HGNC ENSG00000159263 tier1 - - 40 0 0.00 49 4 7.55 SIRT4 0 genome.wustl.edu 37 12 120750388 120750388 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 120750388 120750388 G A SNP SIRT4 ENST00000202967 human ensembl 74_37 +1 known silent c.627 p.E209 0.994 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC ENSG00000089163 tier1 - - 48 0 0.00 51 18 26.09 SKA3 0 genome.wustl.edu 37 13 21750528 21750528 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 21750528 21750528 T C SNP SKA3 ENST00000314759 human ensembl 74_37 -1 known missense c.89 p.D30G 0.803 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 12 0 0.00 5 2 28.57 SLC2A10 0 genome.wustl.edu 37 20 45354893 45354893 + Silent SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 45354893 45354893 A C SNP SLC2A10 ENST00000359271 human ensembl 74_37 +1 known silent c.1218 p.A406 0.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 tier1 - - 89 0 0.00 112 7 5.88 SLC39A12 0 genome.wustl.edu 37 10 18250769 18250769 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 18250769 18250769 A T SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.521 p.Y174F 1.000 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 51 0 0.00 19 19 50.00 SLC39A12 0 genome.wustl.edu 37 10 18289737 18289737 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 18289737 18289737 A T SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.1742 p.E581V 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 83 0 0.00 22 39 63.93 SLC5A10 0 genome.wustl.edu 37 17 18872717 18872717 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 18872717 18872717 G A SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.622 p.V208I 0.186 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 tier1 - - 49 0 0.00 48 4 7.69 SLC6A12 0 genome.wustl.edu 37 12 307123 307123 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 307123 307123 C T SNP SLC6A12 ENST00000359674 human ensembl 74_37 -1 known missense c.893 p.C298Y 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine - no_errors SLC6A12 HGNC ENSG00000111181 47 0 0.00 37 2 5.13 SLC7A10 0 genome.wustl.edu 37 19 33703263 33703263 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 33703263 33703263 G T SNP SLC7A10 ENST00000253188 human ensembl 74_37 -1 known silent c.723 p.G241 0.998 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 41 0 0.00 63 4 5.97 SLC8A1 0 genome.wustl.edu 37 2 40342680 40342680 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 40342680 40342680 A G SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.2635 p.F879L 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 40 0 0.00 26 13 33.33 SLCO1B1 0 genome.wustl.edu 37 12 21294585 21294585 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 21294585 21294585 G T SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.77 p.G26V 0.999 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 50 0 0.00 46 4 8.00 SLCO1C1 0 genome.wustl.edu 37 12 20876179 20876179 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 20876179 20876179 T G SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1177 p.F393V 1.000 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 43 0 0.00 30 38 55.88 SLIT2 0 genome.wustl.edu 37 4 20255544 20255544 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 20255544 20255544 G T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.106 p.G36C 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 67 0 0.00 53 4 7.02 SLITRK5 0 genome.wustl.edu 37 13 88329367 88329367 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 88329367 88329367 A G SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1724 p.K575R 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 29 0 0.00 6 23 79.31 SMAD3 0 genome.wustl.edu 37 15 67479750 67479750 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 67479750 67479750 G T SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.1057 p.A353S 1.000 pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 tier1 - - 40 0 0.00 16 5 23.81 SMAD6 0 genome.wustl.edu 37 15 66995607 66995607 + Frame_Shift_Del DEL C C - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 15 66995607 66995607 C - DEL SMAD6 ENST00000288840 human ensembl 74_37 +1 known frame_shift_del c.11 p.K5fs 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD6 HGNC ENSG00000137834 tier1 99 0 0.00 27 65 70.65 SMARCB1 0 genome.wustl.edu 37 22 24159083 24159083 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 22 24159083 24159083 G C SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.755 p.S252T 1.000 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 39 0 0.00 34 2 5.56 SMG1 0 genome.wustl.edu 37 16 18937310 18937312 + In_Frame_Del DEL GCC GCC - TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 16 18937310 18937312 GCC - DEL SMG1 ENST00000389467 human ensembl 74_37 -1 known in_frame_del c.54_52 p.G18in_frame_del 1.000:1.000:1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 44 0 0.00 26 3 10.34 SPATA6 0 genome.wustl.edu 37 1 48821318 48821319 + RNA INS - - A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 48821318 48821319 - A INS SPATA6 ENST00000487629 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.002 - - - no_errors SPATA6 HGNC ENSG00000132122 tier1 31 0 0.00 23 2 8.00 SPINT3 0 genome.wustl.edu 37 20 44144216 44144216 + Silent SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 44144216 44144216 C G SNP SPINT3 ENST00000217428 human ensembl 74_37 -1 known silent c.33 p.L11 0.215 NULL pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT3 HGNC ENSG00000101446 tier1 - - 31 0 0.00 26 5 16.13 SPTA1 0 genome.wustl.edu 37 1 158583608 158583608 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 158583608 158583608 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6892 p.S2298P 1.000 pfscan_EF_hand_dom pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 58 0 0.00 34 29 46.03 STARD13 0 genome.wustl.edu 37 13 33700340 33700340 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 33700340 33700340 C A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.1960 p.D654Y 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 39 0 0.00 39 22 36.07 STPG2 0 genome.wustl.edu 37 4 98480236 98480236 + Silent SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 4 98480236 98480236 A G SNP STPG2 ENST00000295268 human ensembl 74_37 -1 known silent c.1353 p.I451 0.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 tier1 - - 121 0 0.00 57 28 32.56 STRN4 0 genome.wustl.edu 37 19 47231922 47231922 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 47231922 47231922 G A SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.992 p.A331V 1.000 NULL pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 tier1 - - 128 0 0.00 103 26 20.16 SUPV3L1 0 genome.wustl.edu 37 10 70968804 70968805 + RNA INS - - TT TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 10 70968804 70968805 - TT INS SUPV3L1 ENST00000497254 human ensembl 74_37 +1 known rna NULL NULL 0.013:0.002 - - - no_errors SUPV3L1 HGNC ENSG00000156502 tier1 35 0 0.00 21 4 16.00 SVOPL 0 genome.wustl.edu 37 7 138341216 138341216 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 138341216 138341216 C T SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known missense c.55 p.G19S 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 tier1 - - 28 0 0.00 27 8 22.86 SYNDIG1 0 genome.wustl.edu 37 20 24565587 24565587 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 24565587 24565587 C T SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known silent c.576 p.C192 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 tier1 - - 47 0 0.00 66 28 29.47 SYNE1 0 genome.wustl.edu 37 6 152631081 152631081 + Silent SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 152631081 152631081 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.17091 p.R5697 0.998 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 39 0 0.00 24 36 60.00 SYNE1 0 genome.wustl.edu 37 6 152738095 152738095 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 152738095 152738095 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.5477 p.H1826R 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 30 0 0.00 24 5 17.24 TAS2R3 0 genome.wustl.edu 37 7 141464738 141464738 + Silent SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 141464738 141464738 A G SNP TAS2R3 ENST00000247879 human ensembl 74_37 +1 known silent c.780 p.P260 0.503 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 tier1 - - 80 0 0.00 58 4 6.45 TAS2R50 0 genome.wustl.edu 37 12 11138780 11138780 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 11138780 11138780 G T SNP TAS2R50 ENST00000506868 human ensembl 74_37 -1 known missense c.680 p.A227D 0.025 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 80 0 0.00 71 4 5.33 TBC1D32 0 genome.wustl.edu 37 6 121577239 121577239 + Silent SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 121577239 121577239 T A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative silent c.1926 p.A642 0.659 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 35 0 0.00 54 3 5.26 TCEAL2 0 genome.wustl.edu 37 X 101381791 101381791 + RNA SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e X 101381791 101381791 G T SNP TCEAL2 ENST00000476749 human ensembl 74_37 +1 known rna NULL NULL 0.669 - - - no_errors TCEAL2 HGNC ENSG00000184905 tier1 - - 35 0 0.00 9 27 75.00 TENC1 0 genome.wustl.edu 37 12 53454737 53454737 + Missense_Mutation SNP C C G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 12 53454737 53454737 C G SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.3077 p.P1026R 0.994 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 tier1 - - 62 0 0.00 74 6 7.50 TEX15 0 genome.wustl.edu 37 8 30702209 30702209 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 30702209 30702209 A G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.4325 p.V1442A 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 53 0 0.00 43 3 6.52 TEX29 0 genome.wustl.edu 37 13 111992279 111992279 + Missense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 111992279 111992279 G T SNP TEX29 ENST00000283547 human ensembl 74_37 +1 known missense c.239 p.R80I 0.993 NULL NULL - no_errors TEX29 HGNC ENSG00000153495 tier1 - - 39 0 0.00 60 4 6.25 THOP1 0 genome.wustl.edu 37 19 2807532 2807532 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 2807532 2807532 C A SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known missense c.979 p.P327T 0.002 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 tier1 - - 86 0 0.00 86 9 9.47 TM9SF4 0 genome.wustl.edu 37 20 30720898 30720898 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 30720898 30720898 A C SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.98 p.N33T 1.000 NULL pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 tier1 - - 54 0 0.00 49 12 19.67 TMEM229A 0 genome.wustl.edu 37 7 123672074 123672074 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 7 123672074 123672074 G T SNP TMEM229A ENST00000455783 human ensembl 74_37 -1 known silent c.984 p.L328 0.918 NULL NULL - no_errors TMEM229A HGNC ENSG00000234224 tier1 - - 41 0 0.00 24 34 58.62 TMEM63A 0 genome.wustl.edu 37 1 226055628 226055628 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 226055628 226055628 C T SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known silent c.474 p.L158 0.996 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 tier1 - - 63 0 0.00 43 4 8.51 TMUB2 0 genome.wustl.edu 37 17 42266601 42266601 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 42266601 42266601 C T SNP TMUB2 ENST00000538716 human ensembl 74_37 +1 known missense c.247 p.H83Y 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors TMUB2 HGNC ENSG00000168591 35 0 0.00 41 5 10.64 TNN 0 genome.wustl.edu 37 1 175067705 175067705 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 175067705 175067705 A G SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2093 p.K698R 0.870 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 81 0 0.00 33 49 59.76 TOPBP1 0 genome.wustl.edu 37 3 133377885 133377885 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 133377885 133377885 C A SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.194 p.G65V 0.994 superfamily_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 - - 59 0 0.00 27 8 22.86 TP53 0 genome.wustl.edu 37 17 7577511 7577512 + Frame_Shift_Ins INS - - G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 7577511 7577512 - G INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.770_769 p.L257fs 1.000:0.973 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 tier1 47 0 0.00 13 27 67.50 TP53 0 genome.wustl.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 7577082 7577082 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.856 p.E286K 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 41 0 0.00 28 3 9.68 TRAF5 0 genome.wustl.edu 37 1 211546148 211546148 + RNA SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 211546148 211546148 A G SNP TRAF5 ENST00000473385 human ensembl 74_37 +1 known rna NULL NULL 0.394 - - - no_errors TRAF5 HGNC ENSG00000082512 tier1 - - 8 0 0.00 9 5 35.71 TRAK2 0 genome.wustl.edu 37 2 202254099 202254099 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 202254099 202254099 G A SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.1321 p.P441S 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 tier1 - - 57 0 0.00 58 9 13.43 TRIM64B 0 genome.wustl.edu 37 11 89607401 89607401 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 89607401 89607401 T G SNP TRIM64B ENST00000329862 human ensembl 74_37 -1 known missense c.551 p.K184T 0.077 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64B HGNC ENSG00000189253 tier1 - - 40 0 0.00 37 9 19.57 TRIM64B 0 genome.wustl.edu 37 11 89608234 89608234 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 11 89608234 89608234 A C SNP TRIM64B ENST00000329862 human ensembl 74_37 -1 known missense c.416 p.L139R 0.011 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64B HGNC ENSG00000189253 124 0 0.00 124 7 5.34 TSC1 0 genome.wustl.edu 37 9 135786044 135786044 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 135786044 135786044 T A SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.1177 p.T393S 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 45 0 0.00 26 3 10.34 TSC22D1 0 genome.wustl.edu 37 13 45008870 45008870 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 13 45008870 45008870 C T SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known silent c.3114 p.Q1038 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 54 0 0.00 70 4 5.41 TTC28 0 genome.wustl.edu 37 22 28395242 28395242 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 22 28395242 28395242 A C SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel missense c.4405 p.L1469V 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 49 0 0.00 27 13 32.50 TTC28 0 genome.wustl.edu 37 22 28492265 28492265 + Nonsense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 22 28492265 28492265 C A SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel nonsense c.3679 p.E1227* 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 83 0 0.00 62 4 6.06 TTN 0 genome.wustl.edu 37 2 179433705 179433705 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 179433705 179433705 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.69450 p.S23150R 0.787 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 65 0 0.00 44 16 26.67 TTN 0 genome.wustl.edu 37 2 179434236 179434236 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 179434236 179434236 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.68919 p.E22973D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 35 0 0.00 26 31 54.39 TUSC3 0 genome.wustl.edu 37 8 15480646 15480646 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 8 15480646 15480646 T C SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.196 p.F66L 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 70 0 0.00 55 3 5.17 UCKL1 0 genome.wustl.edu 37 20 62571550 62571550 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 62571550 62571550 G A SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.1520 p.A507V 0.997 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 tier1 - - 56 0 0.00 43 6 12.00 UFD1L 0 genome.wustl.edu 37 22 19466593 19466593 + RNA SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 22 19466593 19466593 C A SNP UFD1L ENST00000484101 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors UFD1L HGNC ENSG00000070010 tier1 - - 53 0 0.00 33 20 37.74 UHRF1BP1 0 genome.wustl.edu 37 6 34835247 34835247 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 34835247 34835247 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.3572 p.S1191L 0.999 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 tier1 - - 63 0 0.00 64 4 5.88 UNC119 0 genome.wustl.edu 37 17 26875686 26875686 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 26875686 26875686 G T SNP UNC119 ENST00000335765 human ensembl 74_37 -1 known silent c.258 p.I86 0.236 pfam_GMP_PDE_delta,superfamily_Ig_E-set pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119 HGNC ENSG00000109103 tier1 - - 52 0 0.00 50 4 7.41 UNC93A 0 genome.wustl.edu 37 6 167721356 167721356 + Missense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 167721356 167721356 C A SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.1066 p.L356M 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 33 0 0.00 24 2 7.69 VPS13D 0 genome.wustl.edu 37 1 12322114 12322114 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 12322114 12322114 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.1571 p.A524V 0.998 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 60 0 0.00 64 4 5.88 WDR35 0 genome.wustl.edu 37 2 20147936 20147936 + Missense_Mutation SNP T T A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 20147936 20147936 T A SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.1546 p.I516L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 tier1 - - 95 0 0.00 49 31 38.75 WDR70 0 genome.wustl.edu 37 5 37381711 37381711 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 5 37381711 37381711 A T SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.99 p.K33N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 tier1 - - 90 0 0.00 191 20 9.48 WNK2 0 genome.wustl.edu 37 9 96080159 96080159 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 9 96080159 96080159 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known silent c.6744 p.G2248 0.000 NULL pfam_Prot_kinase_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_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 53 0 0.00 2 53 96.36 WRNIP1 0 genome.wustl.edu 37 6 2779582 2779582 + Nonsense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 6 2779582 2779582 C T SNP WRNIP1 ENST00000380773 human ensembl 74_37 +1 known nonsense c.1342 p.Q448* 1.000 superfamily_P-loop_NTPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 tier1 - - 72 0 0.00 42 4 8.70 WSCD1 0 genome.wustl.edu 37 17 6021339 6021339 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 17 6021339 6021339 C T SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known silent c.1206 p.S402 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 55 0 0.00 36 4 10.00 ZBTB42 0 genome.wustl.edu 37 14 105268139 105268139 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 14 105268139 105268139 A T SNP ZBTB42 ENST00000342537 human ensembl 74_37 +1 known missense c.605 p.H202L 0.997 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB42 HGNC ENSG00000179627 tier1 - - 35 0 0.00 43 7 14.00 ZDBF2 0 genome.wustl.edu 37 2 207169788 207169789 + Frame_Shift_Ins INS - - C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 2 207169788 207169789 - C INS ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_ins c.536_537 p.V182fs 0.000:0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 58 0 0.00 28 29 50.88 ZDHHC19 0 genome.wustl.edu 37 3 195934293 195934293 + Silent SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 195934293 195934293 C T SNP ZDHHC19 ENST00000296326 human ensembl 74_37 -1 known silent c.663 p.S221 0.962 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 tier1 - - 47 0 0.00 54 6 10.00 ZGPAT 0 genome.wustl.edu 37 20 62365093 62365093 + Splice_Site SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 20 62365093 62365093 T C SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known splice_site c.871+2 e3+2 1.000 - - - no_errors ZGPAT HGNC ENSG00000197114 tier1 - - 69 0 0.00 48 9 15.79 ZNF260 0 genome.wustl.edu 37 19 37005915 37005915 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 37005915 37005915 T G SNP ZNF260 ENST00000523638 human ensembl 74_37 -1 known missense c.226 p.S76R 0.989 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 40 0 0.00 38 4 9.52 ZNF331 0 genome.wustl.edu 37 19 54080368 54080368 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 54080368 54080368 A C SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.554 p.K185T 1.000 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 ZNF331 HGNC ENSG00000130844 tier1 - - 43 0 0.00 7 45 86.54 ZNF525 0 genome.wustl.edu 37 19 53884868 53884868 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 53884868 53884868 C T SNP ZNF525 ENST00000355326 human ensembl 74_37 +1 known missense c.190 p.R64C 0.760 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 tier1 - - 96 0 0.00 43 38 46.91 ZNF561 0 genome.wustl.edu 37 19 9721259 9721259 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 9721259 9721259 T C SNP ZNF561 ENST00000302851 human ensembl 74_37 -1 known missense c.1078 p.S360G 0.999 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 ZNF561 HGNC ENSG00000171469 tier1 - - 83 0 0.00 15 71 82.56 ZNF562 0 genome.wustl.edu 37 19 9763995 9763995 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 9763995 9763995 T G SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known missense c.911 p.N304T 0.005 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 ZNF562 HGNC ENSG00000171466 tier1 - - 132 0 0.00 105 35 25.00 ZNF585B 0 genome.wustl.edu 37 19 37676375 37676375 + Silent SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 37676375 37676375 T C SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known silent c.2064 p.K688 0.999 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 ZNF585B HGNC ENSG00000245680 tier1 - - 63 0 0.00 10 48 82.76 ZNF599 0 genome.wustl.edu 37 19 35258288 35258288 + Silent SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 35258288 35258288 G T SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known silent c.174 p.I58 0.120 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF599 HGNC ENSG00000153896 tier1 - - 39 0 0.00 30 17 36.17 ZNF619 0 genome.wustl.edu 37 3 40528735 40528735 + Nonsense_Mutation SNP C C A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 3 40528735 40528735 C A SNP ZNF619 ENST00000447116 human ensembl 74_37 +1 known nonsense c.854 p.S285* 0.009 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 ZNF619 HGNC ENSG00000177873 31 0 0.00 14 3 16.67 ZNF678 0 genome.wustl.edu 37 1 227838738 227838738 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 1 227838738 227838738 G C SNP ZNF678 ENST00000343776 human ensembl 74_37 +1 known missense c.46 p.A16P 0.047 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF678 HGNC ENSG00000181450 tier1 - - 29 0 0.00 29 4 12.12 ZNF730 0 genome.wustl.edu 37 19 23328839 23328839 + Missense_Mutation SNP A A C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 23328839 23328839 A C SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.993 p.K331N 0.709 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 ZNF730 HGNC ENSG00000183850 tier1 - - 58 0 0.00 6 44 88.00 ZNF765 0 genome.wustl.edu 37 19 53926630 53926630 + RNA SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 53926630 53926630 C T SNP ZNF765 ENST00000594627 human ensembl 74_37 +1 known rna NULL NULL 0.082 - - - no_errors ZNF765 HGNC ENSG00000196417 tier1 - - 11 0 0.00 3 3 50.00 ZNF833P 0 genome.wustl.edu 37 19 11796889 11796889 + RNA SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 11796889 11796889 C T SNP ZNF833P ENST00000344893 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF833P HGNC ENSG00000197332 tier1 - - 39 0 0.00 6 16 72.73 ZNF844 0 genome.wustl.edu 37 19 12186947 12186947 + Missense_Mutation SNP G G C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1db6eb36-0c6f-4b1c-9655-f7f60901d286 18e2cb0a-6aeb-4f02-8895-3a7155ecda0e 19 12186947 12186947 G C SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.1012 p.E338Q 0.010 smart_Znf_C2H2-like pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 tier1 - - 41 0 0.00 32 5 13.51