Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All A2ML1 0 genome.wustl.edu 37 12 8995897 8995897 + Silent SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 12 8995897 8995897 G T SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known silent c.1416 p.V472 0.994 pfam_A2M_N_2 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 57 0 0.00 30 4 11.76 - - - ABCC4 0 genome.wustl.edu 37 13 95830293 95830293 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 13 95830293 95830293 G T SNP ABCC4 ENST00000376887 human ensembl 69_37n -1 known missense c.1598 p.T533N 0.992 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 55 0 0.00 27 4 12.90 - - - ABCC5 0 genome.wustl.edu 37 3 183639183 183639183 + Nonsense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 183639183 183639183 C A SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known nonsense c.4219 p.E1407* 1.000 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 45 0 0.00 36 4 10.00 - - - ABCC8 0 genome.wustl.edu 37 11 17428463 17428463 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 17428463 17428463 G T SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known missense c.3137 p.P1046H 0.763 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 42 0 0.00 34 4 10.53 - - - ABCF3 0 genome.wustl.edu 37 3 183905648 183905648 + Splice_Site SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 183905648 183905648 G T SNP ABCF3 ENST00000429586 human ensembl 69_37n +1 known splice_site c.447-1 e6-1 1.000 - - - no_errors ABCF3 HGNC ENSG00000161204 23 0 0.00 23 4 14.81 - - - ADAMTS8 0 genome.wustl.edu 37 11 130275995 130275995 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 130275995 130275995 G T SNP ADAMTS8 ENST00000257359 human ensembl 69_37n -1 known missense c.2128 p.P710T 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 52 0 0.00 17 4 19.05 - - - AIPL1 0 genome.wustl.edu 37 17 6338271 6338271 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 17 6338271 6338271 C T SNP AIPL1 ENST00000381128 human ensembl 69_37n -1 known missense c.154 p.G52S 0.000 NULL NULL - no_errors AIPL1 HGNC ENSG00000129221 79 0 0.00 139 19 12.03 - - - ANK2 0 genome.wustl.edu 37 4 114279050 114279050 + Silent SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 4 114279050 114279050 G T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known silent c.9276 p.G3092 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 35 0 0.00 25 4 13.79 - - - ANK2 0 genome.wustl.edu 37 4 114279308 114279308 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 4 114279308 114279308 G T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.9534 p.E3178D 0.080 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 55 0 0.00 35 4 10.26 - - - ANKDD1A 0 genome.wustl.edu 37 15 65236873 65236873 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 65236873 65236873 G T SNP ANKDD1A ENST00000380230 human ensembl 69_37n +1 known missense c.1090 p.A364S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 34 0 0.00 24 4 14.29 - - - APOL4 0 genome.wustl.edu 37 22 36587666 36587666 + Frame_Shift_Del DEL A A - TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 36587666 36587666 A - DEL APOL4 ENST00000352371 human ensembl 69_37n -1 known frame_shift_del c.510 p.T171fs 0.000 pfam_ApoL pfam_ApoL - no_errors APOL4 HGNC ENSG00000100336 60 0 0.00 16 2 11.11 - - - ARCN1 0 genome.wustl.edu 37 11 118454639 118454639 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 118454639 118454639 G T SNP ARCN1 ENST00000264028 human ensembl 69_37n +1 known missense c.563 p.S188I 1.000 NULL pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 23 0 0.00 27 4 12.90 - - - ARHGAP4 0 genome.wustl.edu 37 X 153174928 153174928 + Frame_Shift_Del DEL C C - TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 153174928 153174928 C - DEL ARHGAP4 ENST00000350060 human ensembl 69_37n -1 known frame_shift_del c.2476 p.E826fs 0.038 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 32 0 0.00 5 2 22.22 - - - ARPC5L 0 genome.wustl.edu 37 9 127631656 127631658 + In_Frame_Del DEL GGC GGC - TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 9 127631656 127631658 GGC - DEL ARPC5L ENST00000259477 human ensembl 69_37n +1 known in_frame_del c.87_89 p.A33in_frame_del 1.000:1.000:1.000 pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5L HGNC ENSG00000136950 9 0 0.00 7 2 22.22 - - - ASIC2 0 genome.wustl.edu 37 17 32483404 32483404 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 17 32483404 32483404 C T SNP ASIC2 ENST00000359872 human ensembl 69_37n -1 known missense c.148 p.V50M 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - overly_large_intron ASIC2 HGNC ENSG00000108684 29 0 0.00 6 14 70.00 - - - ASIC2 0 genome.wustl.edu 37 17 32483404 32483404 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 17 32483404 32483404 C T SNP ASIC2 ENST00000359872 human ensembl 69_37n -1 known missense c.148 p.V50M 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - overly_large_intron ASIC2 HGNC ENSG00000108684 49 0 0.00 81 68 45.64 - - - ASIC2 0 genome.wustl.edu 37 17 32483404 32483404 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 32483404 32483404 C T SNP ASIC2 ENST00000359872 human ensembl 69_37n -1 known missense c.148 p.V50M 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - overly_large_intron ASIC2 HGNC ENSG00000108684 49 0 0.00 27 23 46.00 - - - BAP1 0 genome.wustl.edu 37 3 52437315 52437315 + Splice_Site SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 52437315 52437315 C A SNP BAP1 ENST00000460680 human ensembl 69_37n -1 known splice_site c.1730-1 e14-1 0.985 - - - no_errors BAP1 HGNC ENSG00000163930 77 0 0.00 28 4 12.50 - - - BCAS3 0 genome.wustl.edu 37 17 59465991 59465991 + Missense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 59465991 59465991 G A SNP BCAS3 ENST00000589222 human ensembl 69_37n +1 known missense c.2672 p.G891E 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 48 0 0.00 43 6 12.24 - - - C19orf66 0 genome.wustl.edu 37 19 10202760 10202760 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 10202760 10202760 G T SNP C19orf66 ENST00000253110 human ensembl 69_37n +1 known missense c.658 p.G220W 1.000 NULL NULL - no_errors C19orf66 HGNC ENSG00000130813 60 0 0.00 27 4 12.90 - - - C20orf141 0 genome.wustl.edu 37 20 2796188 2796188 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 20 2796188 2796188 G T SNP C20orf141 ENST00000380589 human ensembl 69_37n +1 known missense c.265 p.A89S 0.000 NULL NULL - no_errors C20orf141 Clone_based_vega_gene ENSG00000258713 30 0 0.00 35 5 12.50 - - - C2CD3 0 genome.wustl.edu 37 11 73804874 73804874 + Nonsense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 73804874 73804874 C A SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known nonsense c.3331 p.E1111* 1.000 smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 46 0 0.00 25 3 10.71 - - - C2orf16 0 genome.wustl.edu 37 2 27801350 27801350 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 27801350 27801350 G T SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known missense c.1911 p.R637S 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 45 0 0.00 36 4 10.00 - - - C3orf72 0 genome.wustl.edu 37 3 138669374 138669374 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 138669374 138669374 G T SNP C3orf72 ENST00000383165 human ensembl 69_37n +1 known missense c.488 p.R163L 0.000 NULL NULL - no_errors C3orf72 HGNC ENSG00000206262 70 0 0.00 46 6 11.54 - - - C5orf52 0 genome.wustl.edu 37 5 157098750 157098750 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 5 157098750 157098750 G T SNP C5orf52 ENST00000409999 human ensembl 69_37n +1 known missense c.128 p.G43V 0.001 NULL NULL - no_errors C5orf52 HGNC ENSG00000187658 26 0 0.00 18 4 18.18 - - - C9orf117 0 genome.wustl.edu 37 9 130473553 130473553 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 9 130473553 130473553 G T SNP C9orf117 ENST00000373295 human ensembl 69_37n +1 known missense c.633 p.E211D 0.995 NULL NULL - no_errors C9orf117 HGNC ENSG00000160401 39 0 0.00 13 3 18.75 - - - CAST 0 genome.wustl.edu 37 5 96103618 96103618 + Nonsense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 5 96103618 96103618 C T SNP CAST ENST00000437034 human ensembl 69_37n +1 novel nonsense c.1189 p.Q397* 0.000 NULL pfam_Prot_inh_calpain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CAST HGNC ENSG00000153113 27 0 0.00 31 4 11.43 - - - CCDC108 0 genome.wustl.edu 37 2 219896243 219896243 + Silent SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 219896243 219896243 C A SNP CCDC108 ENST00000341552 human ensembl 69_37n -1 known silent c.783 p.T261 0.000 superfamily_PapD-like superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 72 0 0.00 32 4 11.11 - - - CCDC163P 0 genome.wustl.edu 37 1 45961201 45961201 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 45961201 45961201 C A SNP CCDC163P ENST00000415578 human ensembl 69_37n -1 known missense c.347 p.C116F 0.001 NULL NULL - no_errors CCDC163P HGNC ENSG00000236624 45 0 0.00 31 4 11.43 - - - CCDC94 0 genome.wustl.edu 37 19 4251060 4251060 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 4251060 4251060 G T SNP CCDC94 ENST00000262962 human ensembl 69_37n +1 known missense c.162 p.K54N 1.000 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 71 0 0.00 33 4 10.81 - - - CCNL2 0 genome.wustl.edu 37 1 1325918 1325918 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 1325918 1325918 C A SNP CCNL2 ENST00000400809 human ensembl 69_37n -1 known missense c.785 p.W262L 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 29 0 0.00 17 4 19.05 - - - CEP70 0 genome.wustl.edu 37 3 138219340 138219340 + Missense_Mutation SNP G G T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 3 138219340 138219340 G T SNP CEP70 ENST00000264982 human ensembl 69_37n -1 known missense c.1438 p.P480T 0.994 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 32 0 0.00 29 4 12.12 - - - CHST6 0 genome.wustl.edu 37 16 75513101 75513101 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 16 75513101 75513101 C A SNP CHST6 ENST00000332272 human ensembl 69_37n -1 known missense c.626 p.R209L 0.996 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 35 0 0.00 9 4 30.77 - - - CIT 0 genome.wustl.edu 37 12 120150462 120150462 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 12 120150462 120150462 G T SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.4492 p.P1498T 1.000 smart_Pleckstrin_homology,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 27 0 0.00 17 4 19.05 - - - CLPB 0 genome.wustl.edu 37 11 72091420 72091420 + Missense_Mutation SNP T T G TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 11 72091420 72091420 T G SNP CLPB ENST00000294053 human ensembl 69_37n -1 known missense c.551 p.Q184P 0.984 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B - no_errors CLPB HGNC ENSG00000162129 38 0 0.00 44 6 12.00 - - - COL5A2 0 genome.wustl.edu 37 2 189918668 189918668 + Missense_Mutation SNP G G C TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 2 189918668 189918668 G C SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known missense c.2452 p.P818A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 26 0 0.00 9 6 40.00 - - - COL5A2 0 genome.wustl.edu 37 2 189918668 189918668 + Missense_Mutation SNP G G C TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 2 189918668 189918668 G C SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known missense c.2452 p.P818A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 58 0 0.00 81 40 33.06 - - - COL5A2 0 genome.wustl.edu 37 2 189918668 189918668 + Missense_Mutation SNP G G C TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 189918668 189918668 G C SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known missense c.2452 p.P818A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 58 0 0.00 59 16 21.33 - - - CPNE8 0 genome.wustl.edu 37 12 39079360 39079360 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 12 39079360 39079360 G T SNP CPNE8 ENST00000331366 human ensembl 69_37n -1 known nonsense c.1203 p.Y401* 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 81 0 0.00 57 8 12.31 - - - CTCFL 0 genome.wustl.edu 37 20 56098905 56098905 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 20 56098905 56098905 C A SNP CTCFL ENST00000423479 human ensembl 69_37n -1 known missense c.357 p.L119F 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 36 0 0.00 33 4 10.81 - - - DCLK1 0 genome.wustl.edu 37 13 36424764 36424764 + RNA SNP A A T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 13 36424764 36424764 A T SNP DCLK1 ENST00000460982 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DCLK1 HGNC ENSG00000133083 36 0 0.00 55 31 36.05 - - - DENND2C 0 genome.wustl.edu 37 1 115127989 115127989 + RNA DEL A A - TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 1 115127989 115127989 A - DEL DENND2C ENST00000495031 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DENND2C HGNC ENSG00000175984 12 0 0.00 19 3 13.64 - - - DEPDC5 0 genome.wustl.edu 37 22 32293469 32293469 + Missense_Mutation SNP T T A TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 22 32293469 32293469 T A SNP DEPDC5 ENST00000266091 human ensembl 69_37n +1 known missense c.4139 p.V1380D 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 54 0 0.00 12 12 50.00 - - - DEPDC5 0 genome.wustl.edu 37 22 32293469 32293469 + Missense_Mutation SNP T T A TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 22 32293469 32293469 T A SNP DEPDC5 ENST00000266091 human ensembl 69_37n +1 known missense c.4139 p.V1380D 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 91 0 0.00 46 67 59.29 - - - DEPDC5 0 genome.wustl.edu 37 22 32293469 32293469 + Missense_Mutation SNP T T A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 32293469 32293469 T A SNP DEPDC5 ENST00000266091 human ensembl 69_37n +1 known missense c.4139 p.V1380D 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 91 0 0.00 53 10 15.87 - - - DGCR8 0 genome.wustl.edu 37 22 20093775 20093775 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 20093775 20093775 C A SNP DGCR8 ENST00000351989 human ensembl 69_37n +1 known missense c.1864 p.Q622K 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd - no_errors DGCR8 HGNC ENSG00000128191 27 0 0.00 12 3 20.00 - - - DIP2C 0 genome.wustl.edu 37 10 409199 409199 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 10 409199 409199 C T SNP DIP2C ENST00000280886 human ensembl 69_37n -1 known missense c.2530 p.A844T 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 53 0 0.00 36 4 10.00 - - - DLST 0 genome.wustl.edu 37 14 75352289 75352289 + Missense_Mutation SNP G G T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 14 75352289 75352289 G T SNP DLST ENST00000334220 human ensembl 69_37n +1 known missense c.98 p.G33V 1.000 NULL pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 64 0 0.00 34 25 42.37 - - - DLST 0 genome.wustl.edu 37 14 75352289 75352289 + Missense_Mutation SNP G G T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 14 75352289 75352289 G T SNP DLST ENST00000334220 human ensembl 69_37n +1 known missense c.98 p.G33V 1.000 NULL pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 157 0 0.00 168 100 37.31 - - - DLST 0 genome.wustl.edu 37 14 75352289 75352289 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 14 75352289 75352289 G T SNP DLST ENST00000334220 human ensembl 69_37n +1 known missense c.98 p.G33V 1.000 NULL pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 157 0 0.00 133 36 21.30 - - - DNAJC15 0 genome.wustl.edu 37 13 43597806 43597806 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 13 43597806 43597806 G T SNP DNAJC15 ENST00000379221 human ensembl 69_37n +1 known missense c.44 p.R15L 0.664 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC15 HGNC ENSG00000120675 78 0 0.00 34 4 10.53 - - - DOCK7 0 genome.wustl.edu 37 1 63024827 63024827 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 63024827 63024827 C A SNP DOCK7 ENST00000251157 human ensembl 69_37n -1 known missense c.2264 p.R755L 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 30 0 0.00 25 4 13.79 - - - DPP10 0 genome.wustl.edu 37 2 116101439 116101439 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 2 116101439 116101439 C T SNP DPP10 ENST00000429914 human ensembl 69_37n +1 known missense c.86 p.S29F 1.000 NULL NULL - no_errors DPP10 HGNC ENSG00000175497 72 0 0.00 35 12 25.53 - - - DPP10 0 genome.wustl.edu 37 2 116101439 116101439 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 2 116101439 116101439 C T SNP DPP10 ENST00000429914 human ensembl 69_37n +1 known missense c.86 p.S29F 1.000 NULL NULL - no_errors DPP10 HGNC ENSG00000175497 60 0 0.00 50 26 34.21 - - - DPP10 0 genome.wustl.edu 37 2 116101439 116101439 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 116101439 116101439 C T SNP DPP10 ENST00000429914 human ensembl 69_37n +1 known missense c.86 p.S29F 1.000 NULL NULL - no_errors DPP10 HGNC ENSG00000175497 60 0 0.00 44 13 22.81 - - - DUOXA2 0 genome.wustl.edu 37 15 45410045 45410045 + Missense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 45410045 45410045 G A SNP DUOXA2 ENST00000323030 human ensembl 69_37n +1 known missense c.901 p.G301S 0.138 NULL pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 68 0 0.00 34 4 10.26 - - - DYNC1H1 0 genome.wustl.edu 37 14 102506067 102506067 + Silent SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 14 102506067 102506067 G T SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known silent c.11688 p.V3896 0.998 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 50 0 0.00 24 3 11.11 - - - ECE1 0 genome.wustl.edu 37 1 21554433 21554433 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 21554433 21554433 G T SNP ECE1 ENST00000374893 human ensembl 69_37n -1 known missense c.1772 p.S591Y 0.852 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 56 0 0.00 26 4 13.33 - - - EPHB2 0 genome.wustl.edu 37 1 23191471 23191471 + Missense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 23191471 23191471 G A SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known missense c.1069 p.V357I 0.997 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 53 0 0.00 32 4 11.11 - - - FAM72B 0 genome.wustl.edu 37 1 120839839 120839839 + Silent SNP T T C TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 1 120839839 120839839 T C SNP FAM72B ENST00000369390 human ensembl 69_37n +1 known silent c.6 p.S2 1.000 NULL NULL - no_errors FAM72B HGNC ENSG00000188610 36 0 0.00 18 3 14.29 - - - FBLN2 0 genome.wustl.edu 37 3 13655604 13655604 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 13655604 13655604 G T SNP FBLN2 ENST00000404922 human ensembl 69_37n +1 known nonsense c.1669 p.E557* 0.981 NULL pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 74 0 0.00 33 4 10.81 - - - FBRSL1 0 genome.wustl.edu 37 12 133067417 133067417 + Silent SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 12 133067417 133067417 C A SNP FBRSL1 ENST00000434748 human ensembl 69_37n +1 known silent c.261 p.I87 1.000 NULL prints_AUTS2 - no_errors FBRSL1 HGNC ENSG00000112787 21 0 0.00 14 4 22.22 - - - FBXL6 0 genome.wustl.edu 37 8 145580670 145580670 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 8 145580670 145580670 G T SNP FBXL6 ENST00000331890 human ensembl 69_37n -1 known missense c.751 p.L251M 1.000 NULL superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL6 HGNC ENSG00000182325 45 0 0.00 36 4 10.00 - - - FDX1L 0 genome.wustl.edu 37 19 10421581 10421581 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 10421581 10421581 G T SNP FDX1L ENST00000393708 human ensembl 69_37n -1 known missense c.343 p.H115N 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1L Clone_based_vega_gene ENSG00000267673 70 0 0.00 29 4 12.12 - - - FEZ1 0 genome.wustl.edu 37 11 125325806 125325806 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 125325806 125325806 C T SNP FEZ1 ENST00000278919 human ensembl 69_37n -1 known missense c.864 p.M288I 0.999 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 58 0 0.00 27 3 10.00 - - - FLNB 0 genome.wustl.edu 37 3 58084492 58084492 + Missense_Mutation SNP C C A TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 3 58084492 58084492 C A SNP FLNB ENST00000295956 human ensembl 69_37n +1 known missense c.1202 p.T401N 0.059 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 125 1 0.79 53 7 11.67 - - - FLNB 0 genome.wustl.edu 37 3 58084492 58084492 + Missense_Mutation SNP C C A TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 3 58084492 58084492 C A SNP FLNB ENST00000295956 human ensembl 69_37n +1 known missense c.1202 p.T401N 0.059 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 116 0 0.00 183 21 10.29 - - - FMNL1 0 genome.wustl.edu 37 17 43323301 43323301 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 43323301 43323301 C A SNP FMNL1 ENST00000586092 human ensembl 69_37n +1 putative missense c.148 p.R50S 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon FMNL1 HGNC ENSG00000184922 43 0 0.00 34 4 10.53 - - - GNL1 0 genome.wustl.edu 37 6 30520272 30520272 + Silent SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 30520272 30520272 C T SNP GNL1 ENST00000376621 human ensembl 69_37n -1 known silent c.1071 p.K357 1.000 NULL pfam_GTP_binding_domain - no_errors GNL1 HGNC ENSG00000204590 54 0 0.00 34 4 10.53 - - - GRIN1 0 genome.wustl.edu 37 9 140055811 140055811 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 9 140055811 140055811 G T SNP GRIN1 ENST00000371561 human ensembl 69_37n +1 known missense c.1410 p.M470I 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 41 0 0.00 25 4 13.79 - - - GRPR 0 genome.wustl.edu 37 X 16170652 16170652 + Silent SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 16170652 16170652 C A SNP GRPR ENST00000380289 human ensembl 69_37n +1 known silent c.1039 p.R347 0.190 prints_Gastrin_pep_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 41 0 0.00 23 4 14.81 - - - GTF2IRD2B 0 genome.wustl.edu 37 7 74564125 74564125 + Missense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 7 74564125 74564125 G A SNP GTF2IRD2B ENST00000312575 human ensembl 69_37n +1 known missense c.1872 p.M624I 0.043 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 77 0 0.00 21 3 12.50 - - - GTF3C1 0 genome.wustl.edu 37 16 27512555 27512555 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 16 27512555 27512555 C T SNP GTF3C1 ENST00000356183 human ensembl 69_37n -1 known missense c.2018 p.R673Q 0.956 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 40 0 0.00 33 4 10.81 - - - HDAC6 0 genome.wustl.edu 37 X 48675796 48675796 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 48675796 48675796 G T SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.1897 p.G633C 1.000 pfam_His_deacetylse_dom,prints_His_deacetylse pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 86 0 0.00 28 4 12.50 - - - HDAC6 0 genome.wustl.edu 37 X 48675830 48675830 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 48675830 48675830 C T SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.1931 p.A644V 1.000 pfam_His_deacetylse_dom,prints_His_deacetylse pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 85 0 0.00 25 4 13.33 - - - HDAC7 0 genome.wustl.edu 37 12 48192718 48192718 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 12 48192718 48192718 C A SNP HDAC7 ENST00000380610 human ensembl 69_37n -1 known missense c.159 p.Q53H 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 23 0 0.00 11 4 26.67 - - - HEATR8 0 genome.wustl.edu 37 1 55119150 55119150 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 55119150 55119150 G T SNP HEATR8 ENST00000421030 human ensembl 69_37n +1 known missense c.551 p.R184I 0.003 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 42 0 0.00 22 3 12.00 - - - HEATR8 0 genome.wustl.edu 37 1 55144468 55144468 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 55144468 55144468 C A SNP HEATR8 ENST00000421030 human ensembl 69_37n +1 known missense c.1990 p.H664N 0.983 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 41 0 0.00 31 4 11.43 - - - HIST1H3G 0 genome.wustl.edu 37 6 26271575 26271575 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 6 26271575 26271575 C T SNP HIST1H3G ENST00000305910 human ensembl 69_37n -1 known missense c.38 p.G13D 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC ENSG00000256018 21 0 0.00 10 8 44.44 - - - HIST1H3G 0 genome.wustl.edu 37 6 26271575 26271575 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 6 26271575 26271575 C T SNP HIST1H3G ENST00000305910 human ensembl 69_37n -1 known missense c.38 p.G13D 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC ENSG00000256018 81 0 0.00 111 97 46.63 - - - HIST1H3G 0 genome.wustl.edu 37 6 26271575 26271575 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 26271575 26271575 C T SNP HIST1H3G ENST00000305910 human ensembl 69_37n -1 known missense c.38 p.G13D 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC ENSG00000256018 81 0 0.00 92 50 35.21 - - - HLA-DRB5 0 genome.wustl.edu 37 6 32489813 32489813 + Missense_Mutation SNP G G C TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 6 32489813 32489813 G C SNP HLA-DRB5 ENST00000374975 human ensembl 69_37n -1 known missense c.239 p.T80R 0.050 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC ENSG00000198502 23 0 0.00 49 13 20.97 - - - HS3ST6 0 genome.wustl.edu 37 16 1961621 1961621 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 16 1961621 1961621 C A SNP HS3ST6 ENST00000293937 human ensembl 69_37n -1 known missense c.999 p.Q333H 1.000 NULL pfam_Sulfotransferase_dom - no_errors HS3ST6 HGNC ENSG00000162040 67 0 0.00 32 5 13.51 - - - HSD11B2 0 genome.wustl.edu 37 16 67470185 67470185 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 16 67470185 67470185 G T SNP HSD11B2 ENST00000326152 human ensembl 69_37n +1 known missense c.698 p.G233V 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 68 0 0.00 29 4 12.12 - - - ICK 0 genome.wustl.edu 37 6 52884080 52884080 + Missense_Mutation SNP A A C TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 52884080 52884080 A C SNP ICK ENST00000350082 human ensembl 69_37n -1 known missense c.436 p.L146V 0.771 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ICK HGNC ENSG00000112144 59 0 0.00 73 11 13.10 - - - IGLV4-3 0 genome.wustl.edu 37 22 23214055 23214055 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 23214055 23214055 G T SNP IGLV4-3 ENST00000390318 human ensembl 69_37n +1 known missense c.212 p.S71I 0.001 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGLV4-3 HGNC ENSG00000211672 101 0 0.00 36 4 10.00 - - - IL17RC 0 genome.wustl.edu 37 3 9959658 9959658 + Missense_Mutation SNP T T G TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 3 9959658 9959658 T G SNP IL17RC ENST00000295981 human ensembl 69_37n +1 known missense c.392 p.V131G 1.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 41 0 0.00 13 11 45.83 - - - IL17RC 0 genome.wustl.edu 37 3 9959658 9959658 + Missense_Mutation SNP T T G TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 3 9959658 9959658 T G SNP IL17RC ENST00000295981 human ensembl 69_37n +1 known missense c.392 p.V131G 1.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 35 0 0.00 31 27 46.55 - - - IL17RC 0 genome.wustl.edu 37 3 9959658 9959658 + Missense_Mutation SNP T T G TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 9959658 9959658 T G SNP IL17RC ENST00000295981 human ensembl 69_37n +1 known missense c.392 p.V131G 1.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 35 0 0.00 9 9 50.00 - - - INPP5J 0 genome.wustl.edu 37 22 31522448 31522448 + Missense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 31522448 31522448 G A SNP INPP5J ENST00000331075 human ensembl 69_37n +1 known missense c.1358 p.S453N 0.591 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 76 0 0.00 26 4 13.33 - - - ISL2 0 genome.wustl.edu 37 15 76633612 76633612 + Frame_Shift_Del DEL C C - TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 76633612 76633612 C - DEL ISL2 ENST00000290759 human ensembl 69_37n +1 known frame_shift_del c.933 p.S311fs 0.998 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL2 HGNC ENSG00000159556 54 0 0.00 16 2 11.11 - - - ITPR3 0 genome.wustl.edu 37 6 33657115 33657115 + Silent SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 33657115 33657115 C T SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known silent c.6795 p.I2265 0.830 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 73 0 0.00 31 4 11.43 - - - IYD 0 genome.wustl.edu 37 6 150716718 150716718 + Missense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 150716718 150716718 G A SNP IYD ENST00000500320 human ensembl 69_37n +1 known missense c.815 p.G272D 0.001 NULL pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 44 0 0.00 13 4 23.53 - - - JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42132397 42132397 + Silent SNP G G A TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 15 42132397 42132397 G A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 69_37n +1 known silent c.744 p.L248 0.997 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,pfscan_JmjC_dom,pfscan_C2_membr_targeting pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 91 0 0.00 117 13 10.00 - - - KIAA0100 0 genome.wustl.edu 37 17 26962127 26962127 + Silent SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 26962127 26962127 C T SNP KIAA0100 ENST00000005905 human ensembl 69_37n -1 known silent c.2478 p.V826 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 34 0 0.00 33 4 10.81 - - - KIF26A 0 genome.wustl.edu 37 14 104642183 104642183 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 14 104642183 104642183 C A SNP KIF26A ENST00000423312 human ensembl 69_37n +1 known missense c.3058 p.L1020M 0.769 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 26 0 0.00 11 3 21.43 - - - KRTAP10-9 0 genome.wustl.edu 37 21 46048138 46048138 + RNA SNP C C G TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 21 46048138 46048138 C G SNP KRTAP10-9 ENST00000484861 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors KRTAP10-9 HGNC ENSG00000221837 113 1 0.88 65 12 15.38 - - - LARGE 0 genome.wustl.edu 37 22 33679244 33679244 + Silent SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 33679244 33679244 G T SNP LARGE ENST00000354992 human ensembl 69_37n -1 known silent c.1821 p.P607 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 86 0 0.00 24 4 14.29 - - - LCTL 0 genome.wustl.edu 37 15 66856218 66856218 + RNA SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 66856218 66856218 C A SNP LCTL ENST00000563438 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LCTL HGNC ENSG00000188501 36 0 0.00 9 4 30.77 - - - LDLR 0 genome.wustl.edu 37 19 11224354 11224354 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 11224354 11224354 C T SNP LDLR ENST00000558518 human ensembl 69_37n +1 known missense c.1502 p.A501V 0.998 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LDLR HGNC ENSG00000130164 88 0 0.00 27 4 12.90 - - - LINC00085 0 genome.wustl.edu 37 19 52197736 52197736 + RNA SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 52197736 52197736 G T SNP LINC00085 ENST00000573266 human ensembl 69_37n +1 known rna NULL NULL 0.049 - - - no_errors LINC00085 HGNC ENSG00000182310 33 0 0.00 16 3 15.79 - - - LLGL1 0 genome.wustl.edu 37 17 18146095 18146095 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 18146095 18146095 C A SNP LLGL1 ENST00000316843 human ensembl 69_37n +1 known missense c.3155 p.A1052E 0.000 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat - no_errors LLGL1 HGNC ENSG00000131899 52 0 0.00 20 3 13.04 - - - LRP1B 0 genome.wustl.edu 37 2 141707954 141707954 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 141707954 141707954 C A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known missense c.2986 p.G996W 0.983 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 53 0 0.00 31 4 11.43 - - - LZTR1 0 genome.wustl.edu 37 22 21347108 21347108 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 21347108 21347108 C T SNP LZTR1 ENST00000215739 human ensembl 69_37n +1 known missense c.1175 p.A392V 0.992 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 63 0 0.00 35 4 10.26 - - - MAMLD1 0 genome.wustl.edu 37 X 149638787 149638787 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 149638787 149638787 G T SNP MAMLD1 ENST00000432680 human ensembl 69_37n +1 known missense c.867 p.K289N 1.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 36 0 0.00 27 4 12.90 - - - MBD5 0 genome.wustl.edu 37 2 149226951 149226951 + Missense_Mutation SNP A A T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 149226951 149226951 A T SNP MBD5 ENST00000407073 human ensembl 69_37n +1 known missense c.1439 p.Q480L 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 19 0 0.00 8 3 27.27 - - - MIR4330 0 genome.wustl.edu 37 X 150336752 150336752 + RNA SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 150336752 150336752 C A SNP MIR4330 ENST00000579077 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors MIR4330 HGNC ENSG00000265789 35 0 0.00 23 4 14.81 - - - MIR600HG 0 genome.wustl.edu 37 9 125876195 125876195 + RNA SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 9 125876195 125876195 G A SNP MIR600HG ENST00000449175 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 54 0 0.00 28 4 12.50 - - - MLLT3 0 genome.wustl.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 9 20414379 20414379 G A SNP MLLT3 ENST00000380338 human ensembl 69_37n -1 known silent c.465 p.S155 0.991 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 55 0 0.00 48 7 12.73 - - - MS4A2 0 genome.wustl.edu 37 11 59861502 59861502 + Silent SNP C C T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 11 59861502 59861502 C T SNP MS4A2 ENST00000278888 human ensembl 69_37n +1 known silent c.603 p.I201 0.001 pfam_CD20-like pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 42 0 0.00 36 29 44.62 - - - MS4A2 0 genome.wustl.edu 37 11 59861502 59861502 + Silent SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 11 59861502 59861502 C T SNP MS4A2 ENST00000278888 human ensembl 69_37n +1 known silent c.603 p.I201 0.001 pfam_CD20-like pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 51 0 0.00 76 40 34.48 - - - MS4A2 0 genome.wustl.edu 37 11 59861502 59861502 + Silent SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 59861502 59861502 C T SNP MS4A2 ENST00000278888 human ensembl 69_37n +1 known silent c.603 p.I201 0.001 pfam_CD20-like pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 51 0 0.00 48 27 36.00 - - - MSLNL 0 genome.wustl.edu 37 16 820894 820894 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 16 820894 820894 G T SNP MSLNL ENST00000293892 human ensembl 69_37n -1 known missense c.2491 p.H831N 0.736 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 27 0 0.00 12 3 20.00 - - - MTOR 0 genome.wustl.edu 37 1 11303354 11303354 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 11303354 11303354 G T SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.1229 p.T410N 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 52 0 0.00 12 3 20.00 - - - MUTYH 0 genome.wustl.edu 37 1 45797933 45797933 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 45797933 45797933 G T SNP MUTYH ENST00000450313 human ensembl 69_37n -1 known missense c.838 p.Q280K 1.000 superfamily_DNA_glycosylase,smart_HhH-GPD_domain pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 45 0 0.00 21 4 15.38 - - - MYH9 0 genome.wustl.edu 37 22 36697603 36697603 + Nonsense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 36697603 36697603 C A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known nonsense c.2608 p.E870* 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 90 0 0.00 32 4 11.11 - - - MYO15B 0 genome.wustl.edu 37 17 73586046 73586046 + RNA SNP C C G TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 17 73586046 73586046 C G SNP MYO15B ENST00000578382 human ensembl 69_37n +1 known rna NULL NULL 0.919 - - - no_errors MYO15B Clone_based_vega_gene ENSG00000266714 18 0 0.00 35 10 22.22 - - - MYO15B 0 genome.wustl.edu 37 17 73586046 73586046 + RNA SNP C C G TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 73586046 73586046 C G SNP MYO15B ENST00000578382 human ensembl 69_37n +1 known rna NULL NULL 0.919 - - - no_errors MYO15B Clone_based_vega_gene ENSG00000266714 18 0 0.00 5 3 37.50 - - - NAV1 0 genome.wustl.edu 37 1 201763306 201763306 + RNA DEL T T - TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 201763306 201763306 T - DEL NAV1 ENST00000490213 human ensembl 69_37n +1 known rna NULL NULL 0.020 - - - no_errors NAV1 HGNC ENSG00000134369 9 0 0.00 12 2 14.29 - - - NBPF1 0 genome.wustl.edu 37 1 16892277 16892277 + RNA SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 16892277 16892277 G A SNP NBPF1 ENST00000430580 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors NBPF1 HGNC ENSG00000219481 59 0 0.00 22 11 32.35 - - - NHS 0 genome.wustl.edu 37 X 17744946 17744946 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 17744946 17744946 C A SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.2657 p.P886H 0.026 NULL NULL - no_errors NHS HGNC ENSG00000188158 65 0 0.00 30 4 11.76 - - - NLGN3 0 genome.wustl.edu 37 X 70390008 70390009 + RNA DEL CA CA - TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 70390008 70390009 CA - DEL NLGN3 ENST00000476589 human ensembl 69_37n +1 known rna NULL NULL 0.422:0.873 - - - no_errors NLGN3 HGNC ENSG00000196338 18 0 0.00 12 2 13.33 - - - NOP14 0 genome.wustl.edu 37 4 2939896 2939896 + RNA SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 4 2939896 2939896 C A SNP NOP14 ENST00000507120 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors NOP14 HGNC ENSG00000087269 26 0 0.00 32 4 11.11 - - - NOTCH2 0 genome.wustl.edu 37 1 120480616 120480616 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 120480616 120480616 G T SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known nonsense c.3201 p.C1067* 0.998 pirsf_Notch,pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 44 0 0.00 25 4 13.79 - - - NOX5 0 genome.wustl.edu 37 15 69347817 69347817 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 69347817 69347817 C A SNP NOX5 ENST00000388866 human ensembl 69_37n +1 known missense c.2143 p.P715T 1.000 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NOX5 HGNC ENSG00000255346 22 0 0.00 10 3 23.08 - - - NR6A1 0 genome.wustl.edu 37 9 127285049 127285049 + Nonsense_Mutation SNP C C A TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 9 127285049 127285049 C A SNP NR6A1 ENST00000487099 human ensembl 69_37n -1 known nonsense c.1378 p.E460* 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 29 0 0.00 9 4 30.77 - - - NR6A1 0 genome.wustl.edu 37 9 127285049 127285049 + Nonsense_Mutation SNP C C A TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 9 127285049 127285049 C A SNP NR6A1 ENST00000487099 human ensembl 69_37n -1 known nonsense c.1378 p.E460* 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 49 0 0.00 53 11 17.19 - - - NR6A1 0 genome.wustl.edu 37 9 127285049 127285049 + Nonsense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 9 127285049 127285049 C A SNP NR6A1 ENST00000487099 human ensembl 69_37n -1 known nonsense c.1378 p.E460* 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 49 0 0.00 22 6 21.43 - - - NSD1 0 genome.wustl.edu 37 5 176637449 176637449 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 5 176637449 176637449 G T SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known missense c.2049 p.K683N 0.872 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 29 0 0.00 33 4 10.81 - - - NTN1 0 genome.wustl.edu 37 17 8926002 8926002 + Frame_Shift_Del DEL G G - TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 8926002 8926002 G - DEL NTN1 ENST00000173229 human ensembl 69_37n +1 known frame_shift_del c.312 p.A106fs 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 29 0 0.00 6 2 25.00 - - - OMA1 0 genome.wustl.edu 37 1 58946709 58946709 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 1 58946709 58946709 C T SNP OMA1 ENST00000371226 human ensembl 69_37n -1 known missense c.1503 p.M501I 0.414 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 155 0 0.00 29 50 63.29 - - - OMA1 0 genome.wustl.edu 37 1 58946709 58946709 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 1 58946709 58946709 C T SNP OMA1 ENST00000371226 human ensembl 69_37n -1 known missense c.1503 p.M501I 0.414 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 89 0 0.00 43 63 59.43 - - - OMA1 0 genome.wustl.edu 37 1 58946709 58946709 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 58946709 58946709 C T SNP OMA1 ENST00000371226 human ensembl 69_37n -1 known missense c.1503 p.M501I 0.414 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 89 0 0.00 63 38 37.62 - - - OPRK1 0 genome.wustl.edu 37 8 54142021 54142021 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 8 54142021 54142021 G T SNP OPRK1 ENST00000265572 human ensembl 69_37n -1 known missense c.979 p.P327T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Kappa_opi_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,prints_P2_purnocptor - no_errors OPRK1 HGNC ENSG00000082556 46 0 0.00 34 4 10.53 - - - OR1I1 0 genome.wustl.edu 37 19 15198617 15198617 + Frame_Shift_Del DEL G G - TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 15198617 15198617 G - DEL OR1I1 ENST00000209540 human ensembl 69_37n +1 known frame_shift_del c.741 p.V248fs 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1I1 HGNC ENSG00000094661 61 0 0.00 15 2 11.76 - - - PAX4 0 genome.wustl.edu 37 7 127251642 127251642 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 7 127251642 127251642 G T SNP PAX4 ENST00000341640 human ensembl 69_37n -1 known missense c.836 p.P279Q 0.109 NULL pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 67 0 0.00 36 4 10.00 - - - PAX5 0 genome.wustl.edu 37 9 36923447 36923447 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 9 36923447 36923447 C T SNP PAX5 ENST00000358127 human ensembl 69_37n -1 known missense c.815 p.G272D 1.000 NULL pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX5 HGNC ENSG00000196092 30 0 0.00 16 3 15.79 - - - PC 0 genome.wustl.edu 37 11 66631291 66631291 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 66631291 66631291 G T SNP PC ENST00000393958 human ensembl 69_37n -1 known missense c.1322 p.T441N 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 102 1 0.97 35 4 10.26 - - - PCDH1 0 genome.wustl.edu 37 5 141244045 141244045 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 5 141244045 141244045 G T SNP PCDH1 ENST00000287008 human ensembl 69_37n -1 known nonsense c.1851 p.Y617* 1.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 47 0 0.00 30 6 16.67 - - - PCDHAC1 0 genome.wustl.edu 37 5 140306879 140306879 + Silent SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 5 140306879 140306879 C A SNP PCDHAC1 ENST00000253807 human ensembl 69_37n +1 known silent c.402 p.P134 0.049 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 35 0 0.00 20 4 16.67 - - - PCSK1 0 genome.wustl.edu 37 5 95735803 95735803 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 5 95735803 95735803 C A SNP PCSK1 ENST00000311106 human ensembl 69_37n -1 known missense c.1284 p.K428N 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 36 0 0.00 30 4 11.76 - - - PIGZ 0 genome.wustl.edu 37 3 196675479 196675479 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 196675479 196675479 G T SNP PIGZ ENST00000412723 human ensembl 69_37n -1 known missense c.289 p.L97M 0.932 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 61 0 0.00 32 4 11.11 - - - PIK3CD 0 genome.wustl.edu 37 1 9776655 9776655 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 9776655 9776655 G T SNP PIK3CD ENST00000536656 human ensembl 69_37n +1 known missense c.758 p.S253I 1.000 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 107 0 0.00 30 4 11.76 - - - PKNOX1 0 genome.wustl.edu 37 21 44433349 44433349 + Splice_Site SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 21 44433349 44433349 G T SNP PKNOX1 ENST00000291547 human ensembl 69_37n +1 known splice_site c.522+1 e4+1 1.000 - - - no_errors PKNOX1 HGNC ENSG00000160199 50 0 0.00 35 4 10.26 - - - PPP3CB 0 genome.wustl.edu 37 10 75204367 75204367 + Silent SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 10 75204367 75204367 G T SNP PPP3CB ENST00000394822 human ensembl 69_37n -1 known silent c.1536 p.L512 0.997 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 41 0 0.00 22 3 12.00 - - - PRAMEF4 0 genome.wustl.edu 37 1 12939782 12939782 + Silent SNP A A G TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 1 12939782 12939782 A G SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known silent c.1020 p.L340 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 36 0 0.00 39 12 23.53 - - - PRKCQ 0 genome.wustl.edu 37 10 6528089 6528089 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 10 6528089 6528089 G T SNP PRKCQ ENST00000397178 human ensembl 69_37n -1 known nonsense c.126 p.C42* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRKCQ HGNC ENSG00000065675 45 0 0.00 8 6 42.86 - - - PRKCQ 0 genome.wustl.edu 37 10 6528089 6528089 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 10 6528089 6528089 G T SNP PRKCQ ENST00000397178 human ensembl 69_37n -1 known nonsense c.126 p.C42* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRKCQ HGNC ENSG00000065675 47 0 0.00 68 24 26.09 - - - PRPF6 0 genome.wustl.edu 37 20 62642835 62642835 + Silent SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 20 62642835 62642835 C A SNP PRPF6 ENST00000266079 human ensembl 69_37n +1 known silent c.1503 p.I501 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 39 0 0.00 29 4 12.12 - - - PTCH2 0 genome.wustl.edu 37 1 45294693 45294693 + Silent SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 45294693 45294693 C A SNP PTCH2 ENST00000372192 human ensembl 69_37n -1 known silent c.1425 p.A475 0.865 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 54 0 0.00 36 4 10.00 - - - PTGIS 0 genome.wustl.edu 37 20 48124536 48124536 + Missense_Mutation SNP T T G TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 20 48124536 48124536 T G SNP PTGIS ENST00000244043 human ensembl 69_37n -1 known missense c.1424 p.E475A 0.015 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 51 0 0.00 6 12 66.67 - - - PTGIS 0 genome.wustl.edu 37 20 48124536 48124536 + Missense_Mutation SNP T T G TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 20 48124536 48124536 T G SNP PTGIS ENST00000244043 human ensembl 69_37n -1 known missense c.1424 p.E475A 0.015 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 87 0 0.00 85 80 48.48 - - - PTGIS 0 genome.wustl.edu 37 20 48124536 48124536 + Missense_Mutation SNP T T G TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 20 48124536 48124536 T G SNP PTGIS ENST00000244043 human ensembl 69_37n -1 known missense c.1424 p.E475A 0.015 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 87 0 0.00 35 23 39.66 - - - PTPRE 0 genome.wustl.edu 37 10 129845722 129845722 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 10 129845722 129845722 C T SNP PTPRE ENST00000254667 human ensembl 69_37n +1 known missense c.178 p.L60F 0.226 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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 28 0 0.00 7 4 36.36 - - - PTPRE 0 genome.wustl.edu 37 10 129845722 129845722 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 10 129845722 129845722 C T SNP PTPRE ENST00000254667 human ensembl 69_37n +1 known missense c.178 p.L60F 0.226 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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 126 0 0.00 109 68 38.42 - - - PTPRE 0 genome.wustl.edu 37 10 129845722 129845722 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 10 129845722 129845722 C T SNP PTPRE ENST00000254667 human ensembl 69_37n +1 known missense c.178 p.L60F 0.226 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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 126 0 0.00 53 20 27.40 - - - PTRH1 0 genome.wustl.edu 37 9 130476544 130476544 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 9 130476544 130476544 C A SNP PTRH1 ENST00000423807 human ensembl 69_37n -1 novel missense c.434 p.G145V 0.984 NULL pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro - no_errors PTRH1 HGNC ENSG00000187024 59 0 0.00 36 4 10.00 - - - RAD54L2 0 genome.wustl.edu 37 3 51690009 51690009 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 51690009 51690009 G T SNP RAD54L2 ENST00000409535 human ensembl 69_37n +1 known nonsense c.3049 p.E1017* 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 19 0 0.00 6 4 40.00 - - - RASA4CP 0 genome.wustl.edu 37 7 44068698 44068698 + RNA DEL G G - TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 7 44068698 44068698 G - DEL RASA4CP ENST00000446874 human ensembl 69_37n -1 known rna NULL NULL 0.537 - - - no_errors RASA4CP HGNC ENSG00000228903 9 0 0.00 19 8 29.63 - - - REV3L 0 genome.wustl.edu 37 6 111695680 111695680 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 111695680 111695680 G T SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.3878 p.S1293Y 0.832 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 43 0 0.00 29 4 12.12 - - - RHOBTB2 0 genome.wustl.edu 37 8 22852085 22852085 + RNA SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 8 22852085 22852085 G A SNP RHOBTB2 ENST00000518534 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RHOBTB2 HGNC ENSG00000008853 43 0 0.00 16 3 15.79 - - - RNF213 0 genome.wustl.edu 37 17 78307961 78307961 + Silent SNP C C G TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 17 78307961 78307961 C G SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known silent c.4200 p.L1400 0.771 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 82 0 0.00 135 24 15.09 - - - ROBO2 0 genome.wustl.edu 37 3 77611806 77611806 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 3 77611806 77611806 C T SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.1442 p.S481F 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 109 0 0.00 37 27 42.19 - - - ROBO2 0 genome.wustl.edu 37 3 77611806 77611806 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 3 77611806 77611806 C T SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.1442 p.S481F 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 83 0 0.00 102 70 40.70 - - - ROBO2 0 genome.wustl.edu 37 3 77611806 77611806 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 3 77611806 77611806 C T SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.1442 p.S481F 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 83 0 0.00 82 15 15.31 - - - RPS6KL1 0 genome.wustl.edu 37 14 75378070 75378070 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 14 75378070 75378070 C A SNP RPS6KL1 ENST00000358328 human ensembl 69_37n -1 known missense c.545 p.C182F 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KL1 HGNC ENSG00000198208 52 0 0.00 24 4 14.29 - - - RTEL1 0 genome.wustl.edu 37 20 62319311 62319311 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 20 62319311 62319311 G T SNP RTEL1 ENST00000318100 human ensembl 69_37n +1 known missense c.1503 p.E501D 1.000 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 46 0 0.00 36 4 10.00 - - - SAG 0 genome.wustl.edu 37 2 234235771 234235771 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 234235771 234235771 G T SNP SAG ENST00000409110 human ensembl 69_37n +1 known missense c.440 p.C147F 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 48 0 0.00 12 3 20.00 - - - SAMD4B 0 genome.wustl.edu 37 19 39869181 39869181 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 39869181 39869181 G T SNP SAMD4B ENST00000314471 human ensembl 69_37n +1 known missense c.1482 p.E494D 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 48 0 0.00 24 4 14.29 - - - SIAE 0 genome.wustl.edu 37 11 124506876 124506876 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 124506876 124506876 G T SNP SIAE ENST00000263593 human ensembl 69_37n -1 known missense c.1543 p.P515T 0.000 NULL pfam_DUF303_acetylest,superfamily_Esterase_SGNH_hydro-type - no_errors SIAE HGNC ENSG00000110013 31 0 0.00 18 3 14.29 - - - SLC13A2 0 genome.wustl.edu 37 17 26817890 26817890 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 26817890 26817890 G T SNP SLC13A2 ENST00000444914 human ensembl 69_37n +1 known missense c.687 p.Q229H 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 68 0 0.00 32 4 11.11 - - - SLC16A11 0 genome.wustl.edu 37 17 6945433 6945433 + Silent SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 6945433 6945433 G A SNP SLC16A11 ENST00000308009 human ensembl 69_37n -1 known silent c.1068 p.Y356 0.080 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 55 0 0.00 36 4 10.00 - - - SLC22A24 0 genome.wustl.edu 37 11 62850756 62850756 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 62850756 62850756 G T SNP SLC22A24 ENST00000417740 human ensembl 69_37n -1 putative missense c.1244 p.P415Q 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 45 0 0.00 31 4 11.43 - - - SLK 0 genome.wustl.edu 37 10 105778547 105778547 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 10 105778547 105778547 G T SNP SLK ENST00000369755 human ensembl 69_37n +1 known nonsense c.3013 p.E1005* 1.000 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 41 0 0.00 21 3 12.50 - - - SLTM 0 genome.wustl.edu 37 15 59209183 59209183 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 59209183 59209183 G T SNP SLTM ENST00000380516 human ensembl 69_37n -1 known missense c.266 p.A89E 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 45 0 0.00 45 6 11.76 - - - SMEK1 0 genome.wustl.edu 37 14 91931754 91931754 + Missense_Mutation SNP C C T TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 14 91931754 91931754 C T SNP SMEK1 ENST00000554943 human ensembl 69_37n -1 known missense c.1670 p.R557H 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 43 0 0.00 53 14 20.90 - - - SMEK1 0 genome.wustl.edu 37 14 91931754 91931754 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 14 91931754 91931754 C T SNP SMEK1 ENST00000554943 human ensembl 69_37n -1 known missense c.1670 p.R557H 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 43 0 0.00 53 8 13.11 - - - SPATA8 0 genome.wustl.edu 37 15 97328341 97328341 + Nonsense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 97328341 97328341 G A SNP SPATA8 ENST00000328504 human ensembl 69_37n +1 known nonsense c.312 p.W104* 0.000 NULL NULL - no_errors SPATA8 HGNC ENSG00000185594 48 0 0.00 35 4 10.26 - - - SRRM2 0 genome.wustl.edu 37 16 2810336 2810336 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 16 2810336 2810336 G T SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known missense c.868 p.A290S 0.011 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 48 0 0.00 42 5 10.64 - - - ST3GAL2 0 genome.wustl.edu 37 16 70422296 70422296 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 16 70422296 70422296 G T SNP ST3GAL2 ENST00000342907 human ensembl 69_37n -1 known missense c.687 p.S229R 0.609 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 80 0 0.00 33 4 10.81 - - - STARD10 0 genome.wustl.edu 37 11 72466789 72466789 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 72466789 72466789 G T SNP STARD10 ENST00000334805 human ensembl 69_37n -1 known missense c.587 p.P196H 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD10 HGNC ENSG00000214530 43 0 0.00 16 3 15.79 - - - STMN1 0 genome.wustl.edu 37 1 26227357 26227357 + RNA SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 26227357 26227357 C A SNP STMN1 ENST00000465604 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors STMN1 HGNC ENSG00000117632 20 0 0.00 16 4 20.00 - - - SVIL 0 genome.wustl.edu 37 10 29760118 29760118 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 10 29760118 29760118 C A SNP SVIL ENST00000355867 human ensembl 69_37n -1 known missense c.5584 p.G1862W 1.000 smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors SVIL HGNC ENSG00000197321 52 0 0.00 26 4 13.33 - - - SVOPL 0 genome.wustl.edu 37 7 138305870 138305870 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 7 138305870 138305870 G T SNP SVOPL ENST00000419765 human ensembl 69_37n -1 known missense c.1274 p.T425N 0.995 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 69 0 0.00 25 4 13.79 - - - TAAR5 0 genome.wustl.edu 37 6 132910744 132910744 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 132910744 132910744 C T SNP TAAR5 ENST00000258034 human ensembl 69_37n -1 known missense c.82 p.V28I 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC ENSG00000135569 58 0 0.00 33 4 10.81 - - - TBC1D17 0 genome.wustl.edu 37 19 50391058 50391058 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 50391058 50391058 G T SNP TBC1D17 ENST00000221543 human ensembl 69_37n +1 known missense c.1626 p.M542I 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 32 0 0.00 10 3 23.08 - - - TBCB 0 genome.wustl.edu 37 19 36611663 36611663 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 36611663 36611663 G T SNP TBCB ENST00000221855 human ensembl 69_37n +1 known missense c.310 p.V104L 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCB HGNC ENSG00000105254 47 0 0.00 33 4 10.81 - - - TCF12 0 genome.wustl.edu 37 15 57578647 57578647 + RNA SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 57578647 57578647 C A SNP TCF12 ENST00000560190 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TCF12 HGNC ENSG00000140262 38 0 0.00 31 4 11.43 - - - TCIRG1 0 genome.wustl.edu 37 11 67811701 67811701 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 11 67811701 67811701 C T SNP TCIRG1 ENST00000529364 human ensembl 69_37n +1 novel missense c.410 p.P137L 0.988 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TCIRG1 HGNC ENSG00000110719 24 0 0.00 27 4 12.90 - - - THNSL2 0 genome.wustl.edu 37 2 88485624 88485624 + Silent SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 88485624 88485624 C A SNP THNSL2 ENST00000324166 human ensembl 69_37n +1 known silent c.1437 p.A479 0.000 NULL pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase - no_errors THNSL2 HGNC ENSG00000144115 57 0 0.00 29 4 12.12 - - - TMEM132D 0 genome.wustl.edu 37 12 129566436 129566436 + Silent SNP C C A TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 12 129566436 129566436 C A SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known silent c.1791 p.L597 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 81 0 0.00 95 114 54.55 - - - TMEM132D 0 genome.wustl.edu 37 12 129566436 129566436 + Silent SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 12 129566436 129566436 C A SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known silent c.1791 p.L597 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 81 0 0.00 56 41 42.27 - - - TMEM184A 0 genome.wustl.edu 37 7 1589215 1589215 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 7 1589215 1589215 C T SNP TMEM184A ENST00000319010 human ensembl 69_37n -1 novel missense c.670 p.G224S 0.000 NULL pfam_Ost-alpha - no_stop_codon:bad_bp_length_for_coding_region TMEM184A HGNC ENSG00000164855 21 0 0.00 6 4 40.00 - - - TMEM201 0 genome.wustl.edu 37 1 9670593 9670593 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 1 9670593 9670593 C T SNP TMEM201 ENST00000340381 human ensembl 69_37n +1 known missense c.1495 p.P499S 0.971 NULL pfam_DUF2448,pfam_DUF2349 - no_errors TMEM201 HGNC ENSG00000188807 50 0 0.00 35 4 10.26 - - - TMEM242 0 genome.wustl.edu 37 6 157739762 157739762 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 157739762 157739762 C A SNP TMEM242 ENST00000367144 human ensembl 69_37n -1 known missense c.379 p.V127L 0.000 NULL pfam_DUF1358 - no_errors TMEM242 HGNC ENSG00000215712 18 0 0.00 9 3 25.00 - - - TOX2 0 genome.wustl.edu 37 20 42683025 42683025 + Missense_Mutation SNP G G A TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 20 42683025 42683025 G A SNP TOX2 ENST00000413823 human ensembl 69_37n +1 known missense c.35 p.R12H 0.649 NULL NULL - no_start_codon TOX2 HGNC ENSG00000124191 42 0 0.00 29 17 36.96 - - - TOX2 0 genome.wustl.edu 37 20 42683025 42683025 + Missense_Mutation SNP G G A TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 20 42683025 42683025 G A SNP TOX2 ENST00000413823 human ensembl 69_37n +1 known missense c.35 p.R12H 0.649 NULL NULL - no_start_codon TOX2 HGNC ENSG00000124191 69 0 0.00 123 48 27.91 - - - TOX2 0 genome.wustl.edu 37 20 42683025 42683025 + Missense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 20 42683025 42683025 G A SNP TOX2 ENST00000413823 human ensembl 69_37n +1 known missense c.35 p.R12H 0.649 NULL NULL - no_start_codon TOX2 HGNC ENSG00000124191 69 0 0.00 52 11 17.46 - - - TPT1-AS1 0 genome.wustl.edu 37 13 45953414 45953414 + RNA SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 13 45953414 45953414 C T SNP TPT1-AS1 ENST00000405697 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors TPT1-AS1 HGNC ENSG00000170919 38 0 0.00 26 4 13.33 - - - TSNAXIP1 0 genome.wustl.edu 37 16 67861192 67861192 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 16 67861192 67861192 C A SNP TSNAXIP1 ENST00000388833 human ensembl 69_37n +1 known missense c.1543 p.Q515K 0.046 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 36 0 0.00 20 3 13.04 - - - TTN 0 genome.wustl.edu 37 2 179411627 179411627 + Missense_Mutation SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 2 179411627 179411627 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.86824 p.P28942S 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 41 0 0.00 17 3 15.00 - - - TULP1 0 genome.wustl.edu 37 6 35480610 35480610 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 35480610 35480610 C A SNP TULP1 ENST00000229771 human ensembl 69_37n -1 known missense c.26 p.R9L 0.999 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 41 0 0.00 23 3 11.54 - - - TULP4 0 genome.wustl.edu 37 6 158925110 158925110 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 6 158925110 158925110 C A SNP TULP4 ENST00000367097 human ensembl 69_37n +1 known missense c.4415 p.P1472Q 0.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 35 0 0.00 13 4 23.53 - - - UNC45A 0 genome.wustl.edu 37 15 91493412 91493412 + Missense_Mutation SNP C C T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 15 91493412 91493412 C T SNP UNC45A ENST00000418476 human ensembl 69_37n +1 known missense c.2102 p.T701M 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 61 0 0.00 37 5 11.90 - - - UNC45B 0 genome.wustl.edu 37 17 33486463 33486463 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 17 33486463 33486463 G T SNP UNC45B ENST00000268876 human ensembl 69_37n +1 known missense c.878 p.G293V 1.000 pfam_UNC-45/Ring3,superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 47 0 0.00 34 5 12.82 - - - USP9X 0 genome.wustl.edu 37 X 41082490 41082490 + Missense_Mutation SNP C C G TCGA-A7-A26J-01A-11D-A167-09 TCGA-A7-A26J-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be2ca34f-5c15-4b38-a207-52df296a98ee 7e2e9858-0372-46bf-b46d-0f83d9ea87f6 X 41082490 41082490 C G SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.6586 p.L2196V 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 98 0 0.00 57 14 19.72 - - - USP9X 0 genome.wustl.edu 37 X 41082490 41082490 + Missense_Mutation SNP C C G TCGA-A7-A26J-01A-11D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f2b1732-2f2d-46a9-8665-9f5373768a5e 14e32cc8-ff98-4842-9ab9-022358584e94 X 41082490 41082490 C G SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.6586 p.L2196V 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 106 0 0.00 104 32 23.36 - - - USP9X 0 genome.wustl.edu 37 X 41082490 41082490 + Missense_Mutation SNP C C G TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 X 41082490 41082490 C G SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.6586 p.L2196V 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 106 0 0.00 87 13 12.75 - - - XPNPEP1 0 genome.wustl.edu 37 10 111630594 111630594 + Nonsense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 10 111630594 111630594 C A SNP XPNPEP1 ENST00000502935 human ensembl 69_37n -1 known nonsense c.1591 p.G531* 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 49 0 0.00 27 4 12.90 - - - ZC3H7B 0 genome.wustl.edu 37 22 41751857 41751857 + Missense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 22 41751857 41751857 G T SNP ZC3H7B ENST00000351589 human ensembl 69_37n +1 known missense c.2265 p.Q755H 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 51 0 0.00 19 3 13.64 - - - ZFAND2A 0 genome.wustl.edu 37 7 1197836 1197836 + Missense_Mutation SNP C C A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 7 1197836 1197836 C A SNP ZFAND2A ENST00000316495 human ensembl 69_37n -1 known missense c.13 p.D5Y 1.000 NULL pfam_Znf_AN1,smart_Znf_AN1 - no_errors ZFAND2A HGNC ENSG00000178381 31 0 0.00 19 3 13.64 - - - ZHX2 0 genome.wustl.edu 37 8 123965170 123965170 + Nonsense_Mutation SNP G G T TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 8 123965170 123965170 G T SNP ZHX2 ENST00000314393 human ensembl 69_37n +1 known nonsense c.1420 p.E474* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 54 0 0.00 27 4 12.90 - - - ZNF285 0 genome.wustl.edu 37 19 44891003 44891003 + Silent SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 44891003 44891003 G A SNP ZNF285 ENST00000330997 human ensembl 69_37n -1 known silent c.1404 p.S468 0.000 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 ZNF285 HGNC ENSG00000267508 83 0 0.00 74 9 10.84 - - - ZNF507 0 genome.wustl.edu 37 19 32838203 32838203 + RNA SNP G G A TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 32838203 32838203 G A SNP ZNF507 ENST00000588686 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ZNF507 HGNC ENSG00000168813 24 0 0.00 27 4 12.90 - - - ZNF837 0 genome.wustl.edu 37 19 58879909 58879909 + Missense_Mutation SNP T T G TCGA-A7-A26J-01B-02D-A272-09 TCGA-A7-A26J-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f204456d-40aa-4a38-81b0-1dce6409d881 14e32cc8-ff98-4842-9ab9-022358584e94 19 58879909 58879909 T G SNP ZNF837 ENST00000427624 human ensembl 69_37n -1 known missense c.791 p.D264A 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF837 HGNC ENSG00000152475 26 0 0.00 17 4 19.05 - - -