Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA13 0 genome.wustl.edu 37 7 48311908 48311908 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 7 48311908 48311908 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2645 p.P882H 0.048 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 138 0 0.00 100 47 31.97 AHNAK 0 genome.wustl.edu 37 11 62300246 62300246 + Missense_Mutation SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 11 62300246 62300246 A G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.1643 p.L548P 0.958 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 100 0 0.00 89 12 11.88 AKAP6 0 genome.wustl.edu 37 14 33015655 33015655 + Nonsense_Mutation SNP C C G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 14 33015655 33015655 C G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known nonsense c.1796 p.S599* 0.845 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 59 0 0.00 29 9 23.68 ALPL 0 genome.wustl.edu 37 1 21889632 21889632 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 21889632 21889632 C A SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.327 p.D109E 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 tier1 - - 53 0 0.00 48 6 11.11 AMBN 0 genome.wustl.edu 37 4 71464084 71464084 + Missense_Mutation SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 4 71464084 71464084 G T SNP AMBN ENST00000322937 human ensembl 74_37 +1 known missense c.147 p.Q49H 1.000 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 tier1 - - 82 0 0.00 60 10 14.29 ANKRD30A 0 genome.wustl.edu 37 10 37508708 37508708 + Silent SNP T T C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 10 37508708 37508708 T C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known silent c.3900 p.F1300 0.062 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 22 0 0.00 21 7 25.00 AOX1 0 genome.wustl.edu 37 2 201521631 201521631 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 201521631 201521631 G A SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.3142 p.G1048R 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 49 0 0.00 37 6 13.95 AP4M1 0 genome.wustl.edu 37 7 99702536 99702536 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 7 99702536 99702536 C A SNP AP4M1 ENST00000359593 human ensembl 74_37 +1 known missense c.646 p.L216I 0.999 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP4M1 HGNC ENSG00000221838 92 0 0.00 72 4 5.26 APOB 0 genome.wustl.edu 37 2 21252826 21252826 + Nonsense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 21252826 21252826 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known nonsense c.1414 p.E472* 0.016 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 88 0 0.00 84 11 11.58 ARGLU1 0 genome.wustl.edu 37 13 107211799 107211799 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 13 107211799 107211799 G A SNP ARGLU1 ENST00000400198 human ensembl 74_37 -1 known missense c.554 p.A185V 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 50 0 0.00 49 4 7.55 ARHGDIA 0 genome.wustl.edu 37 17 79827081 79827081 + Missense_Mutation SNP T T C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 17 79827081 79827081 T C SNP ARHGDIA ENST00000269321 human ensembl 74_37 -1 known missense c.383 p.Y128C 1.000 pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ENSG00000141522 31 0 0.00 21 3 12.50 BCL11A 0 genome.wustl.edu 37 2 60687786 60687786 + Missense_Mutation SNP C C G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 60687786 60687786 C G SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.2261 p.C754S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 tier1 - - 161 0 0.00 157 10 5.99 BPIFB4 0 genome.wustl.edu 37 20 31672780 31672780 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 20 31672780 31672780 C T SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.760 p.R254C 0.983 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 - - 15 0 0.00 10 4 28.57 BRE 0 genome.wustl.edu 37 2 28117509 28117509 + Missense_Mutation SNP T T A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 28117509 28117509 T A SNP BRE ENST00000344773 human ensembl 74_37 +1 known missense c.86 p.L29Q 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 tier1 - - 108 0 0.00 68 24 26.09 C1orf141 0 genome.wustl.edu 37 1 67591567 67591567 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 67591567 67591567 C A SNP C1orf141 ENST00000371006 human ensembl 74_37 -1 known missense c.101 p.R34I 0.000 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 tier1 - - 47 0 0.00 44 9 16.98 CACNA1S 0 genome.wustl.edu 37 1 201016743 201016743 + Missense_Mutation SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 201016743 201016743 G T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.4453 p.Q1485K 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 - - 60 0 0.00 54 6 10.00 CASQ1 0 genome.wustl.edu 37 1 160160579 160160579 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 160160579 160160579 C T SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.38 p.P13L 0.000 pfam_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 tier1 - - 28 0 0.00 22 6 21.43 CATSPERB 0 genome.wustl.edu 37 14 92157898 92157898 + Missense_Mutation SNP A A C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 14 92157898 92157898 A C SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.833 p.F278C 0.996 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 tier1 - - 139 0 0.00 106 35 24.82 CCDC63 0 genome.wustl.edu 37 12 111321925 111321925 + Missense_Mutation SNP G G C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 12 111321925 111321925 G C SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known missense c.945 p.E315D 0.001 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 tier1 - - 52 0 0.00 47 24 33.80 CCPG1 0 genome.wustl.edu 37 15 55652558 55652558 + Silent SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 15 55652558 55652558 G A SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known silent c.1413 p.G471 0.087 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 tier1 - - 280 0 0.00 235 40 14.49 CD163 0 genome.wustl.edu 37 12 7647976 7647976 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 12 7647976 7647976 C T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1121 p.R374K 0.993 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 45 0 0.00 37 6 13.95 CDH8 0 genome.wustl.edu 37 16 61687640 61687640 + Missense_Mutation SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 16 61687640 61687640 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.2272 p.S758P 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 53 0 0.00 26 12 31.58 CEACAM7 0 genome.wustl.edu 37 19 42190955 42190955 + Missense_Mutation SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 42190955 42190955 G T SNP CEACAM7 ENST00000006724 human ensembl 74_37 -1 known missense c.262 p.Q88K 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CEACAM7 HGNC ENSG00000007306 tier1 - - 151 0 0.00 120 8 6.25 CHST2 0 genome.wustl.edu 37 3 142840711 142840711 + Silent SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 3 142840711 142840711 G A SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known silent c.1053 p.E351 0.999 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 tier1 - - 14 0 0.00 10 7 41.18 CHTF18 0 genome.wustl.edu 37 16 845786 845786 + Silent SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 16 845786 845786 C A SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known silent c.2904 p.L968 0.785 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 17 0 0.00 15 2 11.76 CNGA2 0 genome.wustl.edu 37 X 150912253 150912253 + Silent SNP A A T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 X 150912253 150912253 A T SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known silent c.1278 p.R426 0.998 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 tier1 - - 27 0 0.00 13 6 31.58 CPXCR1 0 genome.wustl.edu 37 X 88008763 88008763 + Missense_Mutation SNP A A T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 X 88008763 88008763 A T SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known missense c.348 p.K116N 0.000 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 tier1 - - 16 0 0.00 11 6 35.29 CYP4F12 0 genome.wustl.edu 37 19 15791309 15791309 + Missense_Mutation SNP A A C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 15791309 15791309 A C SNP CYP4F12 ENST00000324632 human ensembl 74_37 +1 known missense c.505 p.K169Q 0.005 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F12 HGNC ENSG00000186204 tier1 - - 46 0 0.00 30 4 11.76 DCLK2 0 genome.wustl.edu 37 4 151023865 151023865 + Missense_Mutation SNP G G C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 4 151023865 151023865 G C SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.657 p.K219N 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 tier1 - - 59 0 0.00 41 12 22.64 DIAPH2 0 genome.wustl.edu 37 X 96369921 96369921 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 X 96369921 96369921 G A SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.2546 p.R849K 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 33 0 0.00 13 6 31.58 DMXL2 0 genome.wustl.edu 37 15 51830521 51830521 + Nonsense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 15 51830521 51830521 G A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known nonsense c.1234 p.R412* 0.997 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 68 0 0.00 38 9 19.15 DNAH10 0 genome.wustl.edu 37 12 124293406 124293406 + Missense_Mutation SNP T T C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 12 124293406 124293406 T C SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.2696 p.I899T 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 248 0 0.00 161 51 24.06 DNAJC11 0 genome.wustl.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 6727803 6727804 TC - DEL DNAJC11 ENST00000377577 human ensembl 74_37 -1 known frame_shift_del c.344_343 p.E115fs 1.000:1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 tier1 56 0 0.00 46 5 9.80 DNER 0 genome.wustl.edu 37 2 230231614 230231614 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 230231614 230231614 C A SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.2077 p.A693S 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 tier1 - - 58 0 0.00 29 4 12.12 DOCK10 0 genome.wustl.edu 37 2 225729645 225729645 + Missense_Mutation SNP T T C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 225729645 225729645 T C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.1417 p.R473G 0.395 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 221 0 0.00 148 16 9.76 DOK3 0 genome.wustl.edu 37 5 176935515 176935515 + Missense_Mutation SNP A A C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 5 176935515 176935515 A C SNP DOK3 ENST00000357198 human ensembl 74_37 -1 known missense c.263 p.L88R 0.995 smart_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 tier1 - - 8 0 0.00 4 5 55.56 ENSG00000221297 0 genome.wustl.edu 37 9 131020037 131020037 + RNA SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 9 131020037 131020037 C A SNP ENSG00000221297 ENST00000408370 human ensembl 74_37 -1 novel rna NULL NULL 0.016 - - - no_errors AL590708.1 Clone_based_ensembl_gene ENSG00000221297 tier1 - - 199 0 0.00 117 21 15.22 FAM49A 0 genome.wustl.edu 37 2 16746936 16746936 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 16746936 16746936 C A SNP FAM49A ENST00000355549 human ensembl 74_37 -1 known missense c.170 p.G57V 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 tier1 - - 167 0 0.00 148 13 8.07 FAM72A 0 genome.wustl.edu 37 1 206145551 206145551 + Missense_Mutation SNP T T C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 206145551 206145551 T C SNP FAM72A ENST00000367128 human ensembl 74_37 +1 known missense c.328 p.Y110H 1.000 NULL NULL - no_errors FAM72A HGNC ENSG00000196550 tier1 - - 193 0 0.00 175 32 15.46 FCRL3 0 genome.wustl.edu 37 1 157667486 157667486 + Silent SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 157667486 157667486 A G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.522 p.I174 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 70 0 0.00 66 6 8.33 FHOD3 0 genome.wustl.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 18 34261459 34261460 AG - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1371_1372 p.R461fs 0.879:1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 34 0 0.00 25 3 10.71 FRG1B 0 genome.wustl.edu 37 20 29628226 29628226 + Splice_Site DEL G G - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 20 29628226 29628226 G - DEL FRG1B ENST00000278882 human ensembl 74_37 +1 known splice_site_del c.229-1 e4-1 1.000 - - - no_errors FRG1B HGNC ENSG00000149531 tier1 104 0 0.00 88 8 8.33 GPR39 0 genome.wustl.edu 37 2 133402709 133402709 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 133402709 133402709 C T SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.892 p.P298S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 tier1 - - 74 0 0.00 36 4 10.00 GRIA2 0 genome.wustl.edu 37 4 158282238 158282238 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 4 158282238 158282238 G A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2368 p.D790N 1.000 pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 tier1 - - 37 0 0.00 29 4 12.12 GRIN2C 0 genome.wustl.edu 37 17 72851075 72851075 + Frame_Shift_Del DEL G G - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 17 72851075 72851075 G - DEL GRIN2C ENST00000293190 human ensembl 74_37 -1 known frame_shift_del c.157 p.Q53fs 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 tier1 44 0 0.00 32 2 5.88 GRK1 0 genome.wustl.edu 37 13 114325845 114325845 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 13 114325845 114325845 C T SNP GRK1 ENST00000335678 human ensembl 74_37 +1 known missense c.859 p.P287S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 tier1 - - 69 0 0.00 82 6 6.82 HIST1H3F 0 genome.wustl.edu 37 6 26250766 26250766 + Missense_Mutation SNP G G C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 6 26250766 26250766 G C SNP HIST1H3F ENST00000446824 human ensembl 74_37 -1 known missense c.68 p.T23S 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 tier1 - - 70 0 0.00 48 8 14.29 IL1RL1 0 genome.wustl.edu 37 2 102956661 102956662 + Frame_Shift_Ins INS - - A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 102956661 102956662 - A INS IL1RL1 ENST00000233954 human ensembl 74_37 +1 known frame_shift_ins c.376_377 p.N128fs 0.002:0.003 smart_Ig_sub,smart_Ig_sub2,prints_IL-1_rcpt_I/II-typ,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RL1 HGNC ENSG00000115602 tier1 57 0 0.00 31 5 13.89 IL5RA 0 genome.wustl.edu 37 3 3139960 3139960 + Missense_Mutation SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 3 3139960 3139960 A G SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.382 p.S128P 0.648 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 66 0 0.00 43 6 12.24 IL6R 0 genome.wustl.edu 37 1 154402967 154402967 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 154402967 154402967 G A SNP IL6R ENST00000368485 human ensembl 74_37 +1 known missense c.343 p.E115K 0.680 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL6R HGNC ENSG00000160712 tier1 - - 39 0 0.00 22 10 31.25 IRF4 0 genome.wustl.edu 37 6 401656 401656 + Silent SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 6 401656 401656 G A SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known silent c.978 p.A326 0.959 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 tier1 - - 40 0 0.00 19 8 29.63 JAG1 0 genome.wustl.edu 37 20 10629243 10629243 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 20 10629243 10629243 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.1523 p.R508K 1.000 pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 28 0 0.00 44 8 15.38 KCNMA1 0 genome.wustl.edu 37 10 78729785 78729786 + Frame_Shift_Ins INS - - T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 10 78729785 78729786 - T INS KCNMA1 ENST00000406533 human ensembl 74_37 -1 known frame_shift_ins c.2319_2318 p.Q774fs 1.000:1.000 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 72 0 0.00 55 6 9.84 KIF13A 0 genome.wustl.edu 37 6 17987359 17987359 + Silent SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 6 17987359 17987359 G T SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known silent c.72 p.T24 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 - - 75 0 0.00 35 5 12.50 KIF20A 0 genome.wustl.edu 37 5 137522893 137522893 + Missense_Mutation SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 5 137522893 137522893 G T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.2464 p.G822C 0.990 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 14 0 0.00 21 3 12.50 KIF22 0 genome.wustl.edu 37 16 29809731 29809731 + Silent SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 16 29809731 29809731 G A SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known silent c.303 p.Q101 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 tier1 - - 75 0 0.00 54 5 8.47 KRT17 0 genome.wustl.edu 37 17 39780605 39780605 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 17 39780605 39780605 C T SNP KRT17 ENST00000311208 human ensembl 74_37 -1 known missense c.157 p.G53R 0.997 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT17 HGNC ENSG00000128422 tier1 - - 35 0 0.00 25 5 16.67 LCE4A 0 genome.wustl.edu 37 1 152681679 152681679 + Missense_Mutation SNP C C G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 152681679 152681679 C G SNP LCE4A ENST00000335535 human ensembl 74_37 +1 known missense c.128 p.S43C 0.028 NULL NULL - no_errors LCE4A HGNC ENSG00000187170 tier1 - - 95 0 0.00 81 9 10.00 LCE4A 0 genome.wustl.edu 37 1 152681680 152681680 + Silent SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 152681680 152681680 C T SNP LCE4A ENST00000335535 human ensembl 74_37 +1 known silent c.129 p.S43 0.030 NULL NULL - no_errors LCE4A HGNC ENSG00000187170 tier1 rs200890315 - 94 0 0.00 79 10 11.24 LRRC4B 0 genome.wustl.edu 37 19 51021981 51021981 + Missense_Mutation SNP A A C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 51021981 51021981 A C SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.989 p.V330G 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 tier1 - - 40 0 0.00 23 7 23.33 LRRC7 0 genome.wustl.edu 37 1 70541927 70541927 + Silent SNP A A T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 70541927 70541927 A T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.4284 p.G1428 1.000 superfamily_PDZ pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 36 0 0.00 56 9 13.85 MAGEL2 0 genome.wustl.edu 37 15 23890297 23890297 + Missense_Mutation SNP T T G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 15 23890297 23890297 T G SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.784 p.T262P 0.011 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 53 0 0.00 26 7 21.21 MAP2K7 0 genome.wustl.edu 37 19 7974998 7974998 + Missense_Mutation SNP T T C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 7974998 7974998 T C SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.317 p.L106P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 tier1 - - 28 0 0.00 14 5 26.32 METTL17 0 genome.wustl.edu 37 14 21458683 21458683 + Missense_Mutation SNP G G C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 14 21458683 21458683 G C SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known missense c.290 p.R97T 1.000 NULL pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 tier1 - - 58 0 0.00 36 8 18.18 MON1B 0 genome.wustl.edu 37 16 77225412 77225412 + Silent SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 16 77225412 77225412 G A SNP MON1B ENST00000248248 human ensembl 74_37 +1 known silent c.30 p.P10 0.962 NULL pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 13 0 0.00 12 2 14.29 MPC1 0 genome.wustl.edu 37 6 166779513 166779513 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 6 166779513 166779513 G A SNP MPC1 ENST00000341756 human ensembl 74_37 -1 known missense c.254 p.A85V 0.116 pfam_MPC pfam_MPC - no_errors MPC1 HGNC ENSG00000060762 tier1 - - 88 0 0.00 90 5 5.26 MPV17L2 0 genome.wustl.edu 37 19 18304698 18304698 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 18304698 18304698 G A SNP MPV17L2 ENST00000599612 human ensembl 74_37 +1 known missense c.212 p.S71N 1.000 NULL pfam_Mpv17_PMP22 - no_errors MPV17L2 HGNC ENSG00000254858 tier1 - - 118 0 0.00 52 14 21.21 MTERF 0 genome.wustl.edu 37 7 91509437 91509438 + RNA DEL AC AC - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 7 91509437 91509438 AC - DEL MTERF ENST00000481516 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MTERF HGNC ENSG00000127989 tier1 34 0 0.00 29 2 6.45 MTF1 0 genome.wustl.edu 37 1 38323317 38323317 + Missense_Mutation SNP C C G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 38323317 38323317 C G SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known missense c.14 p.S5T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 tier1 - - 93 0 0.00 71 13 15.48 NEXN 0 genome.wustl.edu 37 1 78401560 78401560 + Missense_Mutation SNP T T A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 78401560 78401560 T A SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.1304 p.I435N 0.998 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 tier1 - - 50 0 0.00 63 5 7.35 NF1 0 genome.wustl.edu 37 17 29560174 29560174 + Missense_Mutation SNP T T G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 17 29560174 29560174 T G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.3651 p.D1217E 1.000 superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 68 0 0.00 45 8 15.09 NME8 0 genome.wustl.edu 37 7 37927877 37927877 + Splice_Site SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 7 37927877 37927877 A G SNP NME8 ENST00000199447 human ensembl 74_37 +1 known splice_site c.1248-2 e13-2 1.000 - - - no_errors NME8 HGNC ENSG00000086288 tier1 - - 62 0 0.00 61 9 12.86 NR3C2 0 genome.wustl.edu 37 4 149035257 149035257 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 4 149035257 149035257 C T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.2809 p.D937N 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 33 0 0.00 33 4 10.81 NUDT13 0 genome.wustl.edu 37 10 74890669 74890669 + RNA SNP C C G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 10 74890669 74890669 C G SNP NUDT13 ENST00000488223 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NUDT13 HGNC ENSG00000166321 tier1 - - 37 0 0.00 35 9 20.45 OR14I1 0 genome.wustl.edu 37 1 248845515 248845515 + Missense_Mutation SNP G G C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 248845515 248845515 G C SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known missense c.91 p.L31V 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 tier1 - - 33 0 0.00 30 7 18.92 OR5K1 0 genome.wustl.edu 37 3 98188573 98188573 + Silent SNP A A C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 3 98188573 98188573 A C SNP OR5K1 ENST00000332650 human ensembl 74_37 +1 known silent c.153 p.T51 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K1 HGNC ENSG00000232382 tier1 - - 205 0 0.00 265 27 9.25 OXCT1 0 genome.wustl.edu 37 5 41862783 41862783 + Frame_Shift_Del DEL C C - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 5 41862783 41862783 C - DEL OXCT1 ENST00000196371 human ensembl 74_37 -1 known frame_shift_del c.148 p.V50fs 0.998 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 tier1 78 0 0.00 58 10 14.71 PCDH17 0 genome.wustl.edu 37 13 58299300 58299300 + Missense_Mutation SNP C C G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 13 58299300 58299300 C G SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.3352 p.L1118V 0.114 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 119 0 0.00 135 18 11.76 PCDHAC1 0 genome.wustl.edu 37 5 140307345 140307345 + Missense_Mutation SNP A A T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 5 140307345 140307345 A T SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.868 p.S290C 0.339 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 tier1 - - 49 0 0.00 25 6 19.35 PCDHB14 0 genome.wustl.edu 37 5 140605307 140605307 + Missense_Mutation SNP A A T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 5 140605307 140605307 A T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.2230 p.T744S 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 163 0 0.00 85 14 14.00 PCDHGA11 0 genome.wustl.edu 37 5 140802493 140802493 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 5 140802493 140802493 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.1699 p.A567T 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 tier1 - - 183 0 0.00 127 19 12.93 PCM1 0 genome.wustl.edu 37 8 17830006 17830006 + Frame_Shift_Del DEL C C - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 8 17830006 17830006 C - DEL PCM1 ENST00000325083 human ensembl 74_37 +1 known frame_shift_del c.3753 p.Q1252fs 0.998 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 53 0 0.00 59 11 15.71 PDE6C 0 genome.wustl.edu 37 10 95399898 95399898 + Silent SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 10 95399898 95399898 G A SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.1554 p.E518 0.996 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 tier1 - - 71 0 0.00 60 6 9.09 PIN4 0 genome.wustl.edu 37 X 71401599 71401599 + Missense_Mutation SNP A A C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 X 71401599 71401599 A C SNP PIN4 ENST00000373669 human ensembl 74_37 +1 known missense c.39 p.Q13H 0.002 NULL pfam_PPIase_PpiC,pfscan_PPIase_PpiC - no_errors PIN4 HGNC ENSG00000102309 tier1 - - 19 0 0.00 12 6 33.33 PLCB2 0 genome.wustl.edu 37 15 40594685 40594685 + Silent SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 15 40594685 40594685 C T SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known silent c.357 p.K119 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 tier1 - - 43 0 0.00 21 8 27.59 PLEKHA8 0 genome.wustl.edu 37 7 30118217 30118217 + Missense_Mutation SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 7 30118217 30118217 G T SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known missense c.1374 p.R458S 1.000 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 tier1 - - 36 0 0.00 19 4 16.67 PRSS33 0 genome.wustl.edu 37 16 2836110 2836110 + Missense_Mutation SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 16 2836110 2836110 G T SNP PRSS33 ENST00000293851 human ensembl 74_37 -1 known missense c.59 p.T20N 0.001 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS33 HGNC ENSG00000103355 tier1 - - 36 0 0.00 22 6 21.43 PTPN11 0 genome.wustl.edu 37 12 112892407 112892407 + Missense_Mutation SNP T T G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 12 112892407 112892407 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.565 p.S189A 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 rs79068130 - 44 0 0.00 49 4 7.55 PTPN11 0 genome.wustl.edu 37 12 112892433 112892433 + Nonsense_Mutation SNP T T G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 12 112892433 112892433 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known nonsense c.591 p.Y197* 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 rs76982592 - 33 0 0.00 46 4 8.00 PTPRT 0 genome.wustl.edu 37 20 40730850 40730850 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 20 40730850 40730850 C A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.3685 p.D1229Y 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 59 0 0.00 44 6 12.00 RAB3GAP1 0 genome.wustl.edu 37 2 135884172 135884172 + Missense_Mutation SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 135884172 135884172 G T SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.919 p.A307S 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 tier1 - - 127 0 0.00 96 28 22.58 RAB6B 0 genome.wustl.edu 37 3 133583487 133583487 + Splice_Site SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 3 133583487 133583487 C A SNP RAB6B ENST00000285208 human ensembl 74_37 -1 known splice_site c.71-1 e2-1 1.000 - - - no_errors RAB6B HGNC ENSG00000154917 tier1 - - 81 0 0.00 66 6 8.33 RBM19 0 genome.wustl.edu 37 12 114386665 114386665 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 12 114386665 114386665 C A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.1249 p.D417Y 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 tier1 - - 37 0 0.00 38 12 24.00 RCN1 0 genome.wustl.edu 37 11 32118798 32118798 + Silent SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 11 32118798 32118798 C T SNP RCN1 ENST00000054950 human ensembl 74_37 +1 known silent c.363 p.A121 0.145 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN1 HGNC ENSG00000049449 25 0 0.00 16 3 15.79 REST 0 genome.wustl.edu 37 4 57796152 57796152 + Missense_Mutation SNP C C A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 4 57796152 57796152 C A SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.1128 p.F376L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 tier1 - - 146 0 0.00 124 17 12.06 RGL2 0 genome.wustl.edu 37 6 33260019 33260019 + Nonsense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 6 33260019 33260019 G A SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known nonsense c.2194 p.Q732* 0.995 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 tier1 rs200959026 - 55 0 0.00 32 15 31.25 RNMTL1 0 genome.wustl.edu 37 17 685799 685799 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 17 685799 685799 G A SNP RNMTL1 ENST00000304478 human ensembl 74_37 +1 known missense c.181 p.A61T 0.163 NULL pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 tier1 - - 29 0 0.00 17 5 22.73 SCAF1 0 genome.wustl.edu 37 19 50157632 50157632 + Missense_Mutation SNP G G C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 50157632 50157632 G C SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.3343 p.E1115Q 1.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 tier1 - - 42 0 0.00 26 6 18.75 SEC24B 0 genome.wustl.edu 37 4 110446548 110446548 + Silent SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 4 110446548 110446548 A G SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known silent c.2679 p.S893 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 59 0 0.00 48 4 7.69 SEL1L3 0 genome.wustl.edu 37 4 25849078 25849078 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 4 25849078 25849078 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.571 p.E191K 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 - - 44 0 0.00 38 14 26.92 SERPINA13P 0 genome.wustl.edu 37 14 95108218 95108218 + RNA SNP G G T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 14 95108218 95108218 G T SNP SERPINA13P ENST00000469935 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SERPINA13P HGNC ENSG00000187483 tier1 - - 58 0 0.00 56 5 8.20 SESN1 0 genome.wustl.edu 37 6 109415048 109415048 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 6 109415048 109415048 G A SNP SESN1 ENST00000436639 human ensembl 74_37 -1 known missense c.229 p.P77S 1.000 NULL pfam_PA26 - no_errors SESN1 HGNC ENSG00000080546 tier1 rs143075960 - 59 0 0.00 84 6 6.67 SGIP1 0 genome.wustl.edu 37 1 67195012 67195012 + Missense_Mutation SNP C C G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 67195012 67195012 C G SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1901 p.A634G 1.000 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 90 0 0.00 73 22 23.16 SLC39A10 0 genome.wustl.edu 37 2 196581722 196581722 + Silent SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 2 196581722 196581722 C T SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known silent c.2058 p.L686 0.406 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 tier1 - - 147 0 0.00 108 13 10.74 SMC3 0 genome.wustl.edu 37 10 112356243 112356243 + Missense_Mutation SNP A A C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 10 112356243 112356243 A C SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.2051 p.K684T 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 tier1 - - 60 0 0.00 56 25 30.86 SOX7 0 genome.wustl.edu 37 8 10583693 10583693 + Frame_Shift_Del DEL G G - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 8 10583693 10583693 G - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.878 p.P293fs 0.275 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 34 0 0.00 25 7 21.88 SPATA31D1 0 genome.wustl.edu 37 9 84603903 84603903 + Missense_Mutation SNP A A T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 9 84603903 84603903 A T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.170 p.N57I 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 70 0 0.00 48 5 9.43 TAF1L 0 genome.wustl.edu 37 9 32632567 32632567 + Missense_Mutation SNP T T C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 9 32632567 32632567 T C SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3011 p.K1004R 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 150 0 0.00 148 19 11.38 TLR4 0 genome.wustl.edu 37 9 120475563 120475563 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 9 120475563 120475563 G A SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1157 p.S386N 0.036 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 80 0 0.00 72 7 8.86 TM9SF4 0 genome.wustl.edu 37 20 30729330 30729330 + Missense_Mutation SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 20 30729330 30729330 A G SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.260 p.N87S 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 tier1 - - 53 0 0.00 67 5 6.94 TMC4 0 genome.wustl.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 54675747 54675749 TCC - DEL TMC4 ENST00000301187 human ensembl 74_37 -1 known in_frame_del c.185_183 p.E61in_frame_del 0.025:0.024:0.003 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 tier1 43 0 0.00 36 4 10.00 TNFRSF8 0 genome.wustl.edu 37 1 12144546 12144546 + Missense_Mutation SNP A A T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 12144546 12144546 A T SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known missense c.89 p.H30L 0.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 - - 128 0 0.00 102 14 12.07 TP53 0 genome.wustl.edu 37 17 7578402 7578402 + Missense_Mutation SNP G G C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 17 7578402 7578402 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.528 p.C176W 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 61 0 0.00 43 11 20.37 TRIM42 0 genome.wustl.edu 37 3 140401600 140401600 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 3 140401600 140401600 G A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.638 p.R213H 0.772 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 89 0 0.00 74 5 6.33 TTLL5 0 genome.wustl.edu 37 14 76420881 76420882 + RNA INS - - T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 14 76420881 76420882 - T INS TTLL5 ENST00000554972 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors TTLL5 HGNC ENSG00000119685 tier1 29 0 0.00 27 3 10.00 URGCP 0 genome.wustl.edu 37 7 43916128 43916129 + RNA INS - - CT TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 7 43916128 43916129 - CT INS URGCP ENST00000497914 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors URGCP HGNC ENSG00000106608 tier1 9 0 0.00 8 5 38.46 WDR16 0 genome.wustl.edu 37 17 9490064 9490064 + Missense_Mutation SNP T T G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 17 9490064 9490064 T G SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.350 p.L117R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 tier1 - - 89 0 0.00 43 19 30.65 WHSC1L1 0 genome.wustl.edu 37 8 38153343 38153343 + Missense_Mutation SNP C C G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 8 38153343 38153343 C G SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.2886 p.Q962H 1.000 pfam_PWWP_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 - - 133 0 0.00 119 27 18.49 ZBTB49 0 genome.wustl.edu 37 4 4304165 4304165 + Missense_Mutation SNP G G A TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 4 4304165 4304165 G A SNP ZBTB49 ENST00000337872 human ensembl 74_37 +1 known missense c.602 p.S201N 0.244 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 tier1 - - 42 0 0.00 34 4 10.53 ZMIZ2 0 genome.wustl.edu 37 7 44797705 44797705 + Missense_Mutation SNP G G C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 7 44797705 44797705 G C SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.811 p.E271Q 0.996 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 tier1 - - 105 0 0.00 72 6 7.69 ZNF341 0 genome.wustl.edu 37 20 32379130 32379130 + Missense_Mutation SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 20 32379130 32379130 A G SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.2372 p.K791R 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 tier1 - - 39 0 0.00 46 6 11.54 ZNF384 0 genome.wustl.edu 37 12 6778208 6778208 + Missense_Mutation SNP C C T TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 12 6778208 6778208 C T SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known missense c.1321 p.A441T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 tier1 - - 33 0 0.00 31 4 11.43 ZNF479 0 genome.wustl.edu 37 7 57188321 57188321 + Silent SNP T T C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 7 57188321 57188321 T C SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known silent c.801 p.K267 0.813 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 ZNF479 HGNC ENSG00000185177 tier1 - - 55 0 0.00 44 6 12.00 ZNF506 0 genome.wustl.edu 37 19 19905881 19905881 + Missense_Mutation SNP A A G TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 19905881 19905881 A G SNP ZNF506 ENST00000443905 human ensembl 74_37 -1 known missense c.815 p.L272P 0.095 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 62 0 0.00 44 3 6.38 ZNF814 0 genome.wustl.edu 37 19 58385004 58385004 + Missense_Mutation SNP A A C TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 19 58385004 58385004 A C SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1754 p.F585C 0.980 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 tier1 - - 29 0 0.00 21 5 19.23 ZRANB2 0 genome.wustl.edu 37 1 71535065 71535065 + RNA DEL T T - TCGA-RD-A8N1-01A-12D-A364-08 TCGA-RD-A8N1-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d48b8ff-ee9c-4902-8a5a-7de62ad26566 a1cff732-0170-4976-a45a-f83cb21efce4 1 71535065 71535065 T - DEL ZRANB2 ENST00000487510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 tier1 32 0 0.00 27 5 15.62