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 ABCA6 0 genome.wustl.edu 37 17 67101605 67101605 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 67101605 67101605 G A SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.2738 p.T913I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 57 0 0.00 57 6 9.52 AKR1E2 0 genome.wustl.edu 37 10 4879677 4879677 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 10 4879677 4879677 G A SNP AKR1E2 ENST00000298375 human ensembl 74_37 +1 known silent c.486 p.G162 0.996 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ENSG00000165568 tier1 - - 137 0 0.00 105 8 7.08 ASPRV1 0 genome.wustl.edu 37 2 70188256 70188256 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 2 70188256 70188256 C A SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known missense c.565 p.A189S 1.000 superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 tier1 - - 158 0 0.00 111 6 5.13 AUTS2 0 genome.wustl.edu 37 7 70231160 70231160 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 70231160 70231160 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.1529 p.R510H 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 167 0 0.00 154 10 6.10 AXIN2 0 genome.wustl.edu 37 17 63553925 63553925 + Missense_Mutation SNP T T A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 63553925 63553925 T A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.814 p.R272W 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 119 0 0.00 81 5 5.81 B4GALNT4 0 genome.wustl.edu 37 11 376088 376088 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 376088 376088 C T SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known silent c.1110 p.F370 0.997 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 tier1 - - 64 0 0.00 46 7 13.21 C3 0 genome.wustl.edu 37 19 6697435 6697435 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 6697435 6697435 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2716 p.G906S 0.992 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 119 0 0.00 84 5 5.62 CAMK4 0 genome.wustl.edu 37 5 110560138 110560140 + RNA DEL GCG GCG - TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 110560138 110560140 GCG - DEL CAMK4 ENST00000509408 human ensembl 74_37 +1 known rna NULL NULL 0.980:0.981:0.978 - - - no_errors CAMK4 HGNC ENSG00000152495 tier1 40 0 0.00 23 2 8.00 CCDC7 0 genome.wustl.edu 37 10 32863356 32863356 + Splice_Site SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 10 32863356 32863356 G T SNP CCDC7 ENST00000277657 human ensembl 74_37 +1 known splice_site c.1455-1 e17-1 1.000 - - - no_errors CCDC7 HGNC ENSG00000216937 tier1 - - 98 0 0.00 94 11 10.48 CCNK 0 genome.wustl.edu 37 14 99976738 99976738 + Missense_Mutation SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 14 99976738 99976738 G T SNP CCNK ENST00000389879 human ensembl 74_37 +1 known missense c.1362 p.E454D 0.997 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNK HGNC ENSG00000090061 tier1 - - 11 0 0.00 8 4 33.33 CDH9 0 genome.wustl.edu 37 5 26906901 26906901 + Missense_Mutation SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 26906901 26906901 G T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.570 p.N190K 0.980 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 83 0 0.00 91 9 9.00 CHERP 0 genome.wustl.edu 37 19 16640580 16640580 + Silent SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 16640580 16640580 T C SNP CHERP ENST00000546361 human ensembl 74_37 -1 known silent c.1008 p.Q336 0.994 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 - - 62 0 0.00 60 5 7.69 CHERP 0 genome.wustl.edu 37 19 16640583 16640583 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 16640583 16640583 C T SNP CHERP ENST00000546361 human ensembl 74_37 -1 known silent c.1005 p.Q335 1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 - - 62 0 0.00 60 5 7.69 CYP11A1 0 genome.wustl.edu 37 15 74631601 74631601 + Nonsense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 15 74631601 74631601 G A SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known nonsense c.1213 p.R405* 0.539 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 tier1 - - 77 0 0.00 61 9 12.86 DNAH9 0 genome.wustl.edu 37 17 11650936 11650936 + Missense_Mutation SNP A A T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 11650936 11650936 A T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.6463 p.T2155S 0.445 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 91 0 0.00 85 9 9.57 DNAJB6 0 genome.wustl.edu 37 7 157177590 157177590 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 157177590 157177590 G A SNP DNAJB6 ENST00000262177 human ensembl 74_37 +1 known missense c.508 p.G170R 0.998 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB6 HGNC ENSG00000105993 tier1 - - 215 0 0.00 179 14 7.25 DZANK1 0 genome.wustl.edu 37 20 18414186 18414186 + RNA DEL A A - TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 20 18414186 18414186 A - DEL DZANK1 ENST00000460891 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors DZANK1 HGNC ENSG00000089091 tier1 15 0 0.00 10 2 16.67 ELFN2 0 genome.wustl.edu 37 22 37770349 37770349 + Missense_Mutation SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 22 37770349 37770349 A G SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1226 p.V409A 1.000 pfscan_LPXTG_anchor superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 - - 218 0 0.00 141 18 11.25 ELL2 0 genome.wustl.edu 37 5 95255186 95255186 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 95255186 95255186 T C SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.259 p.N87D 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 tier1 - - 183 0 0.00 147 14 8.70 ENSG00000259648 0 genome.wustl.edu 37 14 68082934 68082934 + RNA DEL T T - TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 14 68082934 68082934 T - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 tier1 30 0 0.00 32 4 11.11 ENSG00000264057 0 genome.wustl.edu 37 17 62927379 62927379 + RNA SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 62927379 62927379 A G SNP ENSG00000264057 ENST00000583052 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-583F2.1 Clone_based_vega_gene ENSG00000264057 tier1 - - 95 0 0.00 92 7 7.07 ENSG00000265557 0 genome.wustl.edu 37 GL000231.1 21887 21887 + RNA SNP C C G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 GL000231.1 21887 21887 C G SNP ENSG00000265557 ENST00000581649 human ensembl 74_37 -1 novel rna NULL NULL NULL - - - no_errors CT867977.1 Clone_based_ensembl_gene ENSG00000265557 tier1 - - 14 0 0.00 9 4 26.67 EPB41L3 0 genome.wustl.edu 37 18 5416252 5416252 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 18 5416252 5416252 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.1632 p.P544 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 rs201925314 - 170 0 0.00 113 6 5.04 F13A1 0 genome.wustl.edu 37 6 6174842 6174842 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 6 6174842 6174842 G A SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1718 p.T573M 0.422 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 tier1 rs113599940 - 240 0 0.00 193 13 6.31 FANCM 0 genome.wustl.edu 37 14 45658513 45658513 + Missense_Mutation SNP T T G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 14 45658513 45658513 T G SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.5288 p.F1763C 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 193 0 0.00 213 13 5.75 FN1 0 genome.wustl.edu 37 2 216251516 216251516 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 2 216251516 216251516 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.4508 p.S1503F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 95 0 0.00 78 8 9.30 FYCO1 0 genome.wustl.edu 37 3 46008078 46008078 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 3 46008078 46008078 G A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known silent c.2748 p.T916 0.002 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 tier1 rs142981160 - 135 0 0.00 93 10 9.62 GGTLC1 0 genome.wustl.edu 37 20 23966510 23966510 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 20 23966510 23966510 C A SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known missense c.406 p.A136S 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 tier1 - - 328 0 0.00 230 19 7.63 GPR116 0 genome.wustl.edu 37 6 46826342 46826342 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 6 46826342 46826342 C T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.3298 p.V1100I 0.942 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 91 0 0.00 77 7 8.33 HGS 0 genome.wustl.edu 37 17 79663723 79663723 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 79663723 79663723 G A SNP HGS ENST00000329138 human ensembl 74_37 +1 known silent c.1653 p.K551 1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 tier1 - - 135 0 0.00 97 22 18.49 IFT74 0 genome.wustl.edu 37 9 26961993 26961993 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 9 26961993 26961993 G A SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known missense c.28 p.A10T 0.007 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 tier1 - - 153 0 0.00 130 13 9.09 ITGA5 0 genome.wustl.edu 37 12 54792385 54792385 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 12 54792385 54792385 C T SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.2939 p.R980H 0.168 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 tier1 rs145576475 - 92 0 0.00 46 9 16.36 KCNH4 0 genome.wustl.edu 37 17 40312390 40312390 + Missense_Mutation SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 40312390 40312390 G C SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.2722 p.L908V 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 tier1 - - 102 0 0.00 81 11 11.96 KCNIP2 0 genome.wustl.edu 37 10 103587926 103587926 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 10 103587926 103587926 G A SNP KCNIP2 ENST00000461105 human ensembl 74_37 -1 known silent c.624 p.D208 0.747 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 tier1 - - 228 0 0.00 182 27 12.80 KCNN2 0 genome.wustl.edu 37 5 113740271 113740271 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 113740271 113740271 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.719 p.R240Q 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 tier1 - - 281 0 0.00 268 41 13.23 KCNQ3 0 genome.wustl.edu 37 8 133196524 133196524 + Nonsense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 133196524 133196524 G A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known nonsense c.568 p.R190* 0.984 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 211 0 0.00 171 21 10.94 LACC1 0 genome.wustl.edu 37 13 44458068 44458068 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 13 44458068 44458068 C T SNP LACC1 ENST00000325686 human ensembl 74_37 +1 known silent c.903 p.H301 0.970 pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 tier1 - - 106 0 0.00 102 14 12.07 LRFN2 0 genome.wustl.edu 37 6 40400557 40400557 + Missense_Mutation SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 6 40400557 40400557 A G SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.296 p.L99P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 tier1 - - 65 0 0.00 78 7 8.24 LRRN2 0 genome.wustl.edu 37 1 204588474 204588474 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 204588474 204588474 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.647 p.R216H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 tier1 rs143481345 - 169 0 0.00 129 12 8.51 MAGEB6 0 genome.wustl.edu 37 X 26212038 26212038 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 X 26212038 26212038 C T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known silent c.75 p.L25 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 117 0 0.00 98 9 8.33 MARCH10 0 genome.wustl.edu 37 17 60813407 60813407 + Missense_Mutation SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 60813407 60813407 G T SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known missense c.1822 p.H608N 0.887 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 tier1 - - 180 0 0.00 207 14 6.33 MED13 0 genome.wustl.edu 37 17 60028345 60028345 + Silent SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 60028345 60028345 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known silent c.6132 p.D2044 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 - - 95 0 0.00 90 6 6.25 MME 0 genome.wustl.edu 37 3 154802082 154802082 + Silent SNP T T A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 3 154802082 154802082 T A SNP MME ENST00000360490 human ensembl 74_37 +1 known silent c.126 p.A42 0.911 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 tier1 - - 204 0 0.00 196 11 5.31 MT-CO2 0 genome.wustl.edu 37 MT 8251 8251 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 MT 8251 8251 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known silent c.666 p.G222 NULL pfscan_Cyt_c_oxidase_su2_C pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 rs3021089 - 105 0 0.00 102 45 30.61 MT-RNR2 0 genome.wustl.edu 37 MT 1913 1913 + RNA SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 MT 1913 1913 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 173 0 0.00 236 13 5.22 MUC17 0 genome.wustl.edu 37 7 100685182 100685182 + Silent SNP C C G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 100685182 100685182 C G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.10485 p.T3495 0.012 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 609 0 0.00 534 59 9.95 MUC6 0 genome.wustl.edu 37 11 1016417 1016417 + Silent SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 1016417 1016417 G C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.6384 p.S2128 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 58 0 0.00 46 6 11.54 MYH2 0 genome.wustl.edu 37 17 10426500 10426500 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 10426500 10426500 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.5580 p.T1860 0.988 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 80 0 0.00 83 9 9.78 NLGN4X 0 genome.wustl.edu 37 X 5811186 5811186 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 X 5811186 5811186 T C SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2183 p.H728R 0.630 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 148 0 0.00 109 12 9.92 NSFL1C 0 genome.wustl.edu 37 20 1447411 1447411 + Frame_Shift_Del DEL T T - TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 20 1447411 1447411 T - DEL NSFL1C ENST00000350991 human ensembl 74_37 -1 known frame_shift_del c.59 p.E20fs 1.000 superfamily_UBA-like pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 tier1 10 0 0.00 4 2 33.33 PCDHB18 0 genome.wustl.edu 37 5 140616343 140616343 + RNA SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 140616343 140616343 G T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 tier1 - - 315 0 0.00 329 19 5.46 PCNXL2 0 genome.wustl.edu 37 1 233394772 233394772 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 233394772 233394772 T C SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.836 p.E279G 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 98 0 0.00 80 5 5.88 PRKCA 0 genome.wustl.edu 37 17 64492399 64492399 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 64492399 64492399 G A SNP PRKCA ENST00000413366 human ensembl 74_37 +1 known missense c.286 p.D96N 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 tier1 - - 87 0 0.00 49 5 9.26 PRSS27 0 genome.wustl.edu 37 16 2763600 2763600 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 16 2763600 2763600 T C SNP PRSS27 ENST00000302641 human ensembl 74_37 -1 known missense c.608 p.Y203C 0.030 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS27 HGNC ENSG00000172382 tier1 - - 211 0 0.00 201 22 9.87 PRSS57 0 genome.wustl.edu 37 19 686959 686959 + Missense_Mutation SNP C C G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 686959 686959 C G SNP PRSS57 ENST00000329267 human ensembl 74_37 -1 known missense c.611 p.R204P 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS57 HGNC ENSG00000185198 tier1 - - 119 0 0.00 79 8 9.20 PSMC5 0 genome.wustl.edu 37 17 61908692 61908692 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 61908692 61908692 C T SNP PSMC5 ENST00000310144 human ensembl 74_37 +1 known silent c.876 p.I292 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 tier1 - - 546 0 0.00 550 38 6.46 PSMG2 0 genome.wustl.edu 37 18 12720616 12720616 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 18 12720616 12720616 T C SNP PSMG2 ENST00000317615 human ensembl 74_37 +1 known missense c.515 p.I172T 0.740 pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk - no_errors PSMG2 HGNC ENSG00000128789 tier1 - - 56 0 0.00 49 13 20.97 RAG1 0 genome.wustl.edu 37 11 36596999 36596999 + Silent SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 36596999 36596999 G C SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known silent c.2145 p.V715 0.996 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 tier1 - - 163 0 0.00 137 14 9.27 RIMS1 0 genome.wustl.edu 37 6 72892026 72892026 + Silent SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 6 72892026 72892026 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.852 p.G284 0.001 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 108 0 0.00 63 4 5.97 RNA5SP283 0 genome.wustl.edu 37 9 66458154 66458155 + RNA INS - - T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 9 66458154 66458155 - T INS RNA5SP283 ENST00000365604 human ensembl 74_37 -1 known rna NULL NULL 0.044:0.046 - - - no_errors RNA5SP283 HGNC ENSG00000202474 tier1 16 0 0.00 14 5 26.32 SCN4A 0 genome.wustl.edu 37 17 62045633 62045633 + Missense_Mutation SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 62045633 62045633 G T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.786 p.S262R 0.632 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 207 0 0.00 171 16 8.56 SF3B1 0 genome.wustl.edu 37 2 198257052 198257052 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 2 198257052 198257052 C T SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.3890 p.R1297H 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 tier1 - - 88 0 0.00 76 5 6.17 SLC45A4 0 genome.wustl.edu 37 8 142222339 142222339 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 142222339 142222339 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2258 p.T753M 0.001 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 73 0 0.00 50 4 7.41 SLC6A20 0 genome.wustl.edu 37 3 45812743 45812743 + Missense_Mutation SNP T T G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 3 45812743 45812743 T G SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known missense c.901 p.K301Q 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_orphan pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 tier1 - - 88 0 0.00 66 13 16.46 SMAD9 0 genome.wustl.edu 37 13 37453860 37453860 + RNA SNP A A C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 13 37453860 37453860 A C SNP SMAD9 ENST00000483941 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SMAD9 HGNC ENSG00000120693 tier1 - - 62 0 0.00 81 5 5.81 SOWAHD 0 genome.wustl.edu 37 X 118893487 118893487 + Nonsense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 X 118893487 118893487 C A SNP SOWAHD ENST00000343905 human ensembl 74_37 +1 known nonsense c.857 p.S286* 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHD HGNC ENSG00000187808 tier1 - - 58 0 0.00 41 5 10.87 ST6GAL2 0 genome.wustl.edu 37 2 107460329 107460329 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 2 107460329 107460329 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.105 p.P35 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 - - 104 0 0.00 92 10 9.80 SV2C 0 genome.wustl.edu 37 5 75427935 75427935 + Silent SNP A A T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 75427935 75427935 A T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known silent c.360 p.R120 0.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 98 0 0.00 64 9 12.16 TGFBR2 0 genome.wustl.edu 37 3 30715613 30715613 + Missense_Mutation SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 3 30715613 30715613 A G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1346 p.Y449C 1.000 pirsf_Transform_growth_fac-b_typ-2,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 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 91 0 0.00 77 6 7.23 TGFBR3 0 genome.wustl.edu 37 1 92182211 92182211 + Nonsense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 92182211 92182211 C A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known nonsense c.1621 p.E541* 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 tier1 - - 527 0 0.00 448 38 7.82 TM9SF2 0 genome.wustl.edu 37 13 100172328 100172328 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 13 100172328 100172328 C A SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.278 p.S93Y 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 tier1 - - 136 0 0.00 134 13 8.78 TMPRSS15 0 genome.wustl.edu 37 21 19704477 19704477 + Silent SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 21 19704477 19704477 T C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.1578 p.G526 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 135 0 0.00 114 11 8.80 ZFHX4 0 genome.wustl.edu 37 8 77616425 77616425 + Missense_Mutation SNP A A C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 77616425 77616425 A C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.102 p.K34N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 75 0 0.00 64 15 18.99 ZFHX4 0 genome.wustl.edu 37 8 77765710 77765710 + Nonsense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 77765710 77765710 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.6553 p.R2185* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 159 0 0.00 114 13 10.24 ZFP2 0 genome.wustl.edu 37 5 178358966 178358966 + Missense_Mutation SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 178358966 178358966 G C SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known missense c.652 p.E218Q 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 tier1 - - 109 0 0.00 94 7 6.93 ZNF471 0 genome.wustl.edu 37 19 57036484 57036484 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 57036484 57036484 G A SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.1048 p.E350K 0.039 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 ZNF471 HGNC ENSG00000196263 tier1 - - 129 0 0.00 146 14 8.70 ZNF518A 0 genome.wustl.edu 37 10 97920304 97920304 + RNA SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 10 97920304 97920304 C T SNP ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.156 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 - - 95 0 0.00 105 14 11.76 ZNF600 0 genome.wustl.edu 37 19 53270996 53270996 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 53270996 53270996 C A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.13 p.V5F 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 326 0 0.00 339 28 7.63 ZNF697 0 genome.wustl.edu 37 1 120165477 120165477 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 120165477 120165477 C T SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.1489 p.E497K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 tier1 - - 46 0 0.00 42 5 10.20 AMY2B 0 genome.wustl.edu 37 1 104118116 104118116 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 104118116 104118116 G A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1055 p.R352Q 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 369 0 0 346 34 8.94737 ZNF697 0 genome.wustl.edu 37 1 120165477 120165477 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 120165477 120165477 C T SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.1489 p.E497K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 38 0 0 34 4 10.5263 OR10J3 0 genome.wustl.edu 37 1 159283838 159283838 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 159283838 159283838 G A SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known silent c.612 p.S204 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 163 0 0 162 9 5.26316 SWT1 0 genome.wustl.edu 37 1 185144000 185144000 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 185144000 185144000 C T SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.721 p.R241C 0.000 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 197 0 0 205 12 5.52995 LRRN2 0 genome.wustl.edu 37 1 204588474 204588474 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 204588474 204588474 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.647 p.R216H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 145 0 0 110 10 8.33333 PCNXL2 0 genome.wustl.edu 37 1 233394772 233394772 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 233394772 233394772 T C SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.836 p.E279G 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 97 0 0 75 5 6.25 TGFBR3 0 genome.wustl.edu 37 1 92182211 92182211 + Nonsense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 1 92182211 92182211 C A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known nonsense c.1621 p.E541* 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 462 0 0 377 31 7.59804 KCNIP2 0 genome.wustl.edu 37 10 103587926 103587926 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 10 103587926 103587926 G A SNP KCNIP2 ENST00000461105 human ensembl 74_37 -1 known silent c.624 p.D208 0.747 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 201 0 0 161 24 12.973 CCDC7 0 genome.wustl.edu 37 10 32863356 32863356 + Splice_Site SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 10 32863356 32863356 G T SNP CCDC7 ENST00000277657 human ensembl 74_37 +1 known splice_site c.1455-1 e17-1 1.000 - - - no_errors CCDC7 HGNC ENSG00000216937 79 0 0 76 8 9.52381 AKR1E2 0 genome.wustl.edu 37 10 4879677 4879677 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 10 4879677 4879677 G A SNP AKR1E2 ENST00000298375 human ensembl 74_37 +1 known silent c.486 p.G162 0.996 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ENSG00000165568 121 0 0 98 7 6.66667 ZNF518A 0 genome.wustl.edu 37 10 97920304 97920304 + RNA SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 10 97920304 97920304 C T SNP ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.156 - - - no_errors ZNF518A HGNC ENSG00000177853 85 0 0 97 11 10.1852 MUC6 0 genome.wustl.edu 37 11 1016417 1016417 + Silent SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 1016417 1016417 G C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.6384 p.S2128 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 56 0 0 45 5 10 TSSC2 0 genome.wustl.edu 37 11 3427885 3427885 + RNA SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 3427885 3427885 A G SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TSSC2 HGNC ENSG00000223756 51 0 0 46 4 8 RAG1 0 genome.wustl.edu 37 11 36596999 36596999 + Silent SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 36596999 36596999 G C SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known silent c.2145 p.V715 0.996 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 138 0 0 118 12 9.23077 B4GALNT4 0 genome.wustl.edu 37 11 376088 376088 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 376088 376088 C T SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known silent c.1110 p.F370 0.997 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 54 0 0 43 7 14 TENM4 0 genome.wustl.edu 37 11 78381482 78381482 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 78381482 78381482 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5908 p.R1970C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 68 0 0 65 10 13.3333 MED17 0 genome.wustl.edu 37 11 93517701 93517701 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 93517701 93517701 C T SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.22 p.R8W 1.000 NULL pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 47 0 0 33 3 8.33333 GPD1 0 genome.wustl.edu 37 12 50499447 50499447 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 12 50499447 50499447 C T SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known silent c.336 p.N112 0.029 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 71 0 0 57 4 6.55738 ITGA5 0 genome.wustl.edu 37 12 54792385 54792385 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 12 54792385 54792385 C T SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.2939 p.R980H 0.168 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 83 0 0 38 6 13.6364 EEA1 0 genome.wustl.edu 37 12 93210150 93210150 + Missense_Mutation SNP C C G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 12 93210150 93210150 C G SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.1755 p.K585N 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 173 0 0 178 10 5.31915 TM9SF2 0 genome.wustl.edu 37 13 100172328 100172328 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 13 100172328 100172328 C A SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.278 p.S93Y 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 113 0 0 106 9 7.82609 LACC1 0 genome.wustl.edu 37 13 44458068 44458068 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 13 44458068 44458068 C T SNP LACC1 ENST00000325686 human ensembl 74_37 +1 known silent c.903 p.H301 0.970 pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 99 0 0 94 13 12.1495 FANCM 0 genome.wustl.edu 37 14 45658513 45658513 + Missense_Mutation SNP T T G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 14 45658513 45658513 T G SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.5288 p.F1763C 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 163 0 0 177 11 5.85106 CYP11A1 0 genome.wustl.edu 37 15 74631601 74631601 + Nonsense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 15 74631601 74631601 G A SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known nonsense c.1213 p.R405* 0.539 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 64 0 0 55 7 11.2903 PRSS27 0 genome.wustl.edu 37 16 2763600 2763600 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 16 2763600 2763600 T C SNP PRSS27 ENST00000302641 human ensembl 74_37 -1 known missense c.608 p.Y203C 0.030 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS27 HGNC ENSG00000172382 192 0 0 177 20 10.1523 MYH2 0 genome.wustl.edu 37 17 10426500 10426500 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 10426500 10426500 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.5580 p.T1860 0.988 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 75 0 0 76 8 9.52381 DNAH9 0 genome.wustl.edu 37 17 11650936 11650936 + Missense_Mutation SNP A A T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 11650936 11650936 A T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.6463 p.T2155S 0.445 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 82 0 0 76 9 10.5882 KCNH4 0 genome.wustl.edu 37 17 40312390 40312390 + Missense_Mutation SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 40312390 40312390 G C SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.2722 p.L908V 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 94 0 0 77 11 12.5 MED13 0 genome.wustl.edu 37 17 60028345 60028345 + Silent SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 60028345 60028345 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known silent c.6132 p.D2044 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 87 0 0 78 5 6.0241 MARCH10 0 genome.wustl.edu 37 17 60813407 60813407 + Missense_Mutation SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 60813407 60813407 G T SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known missense c.1822 p.H608N 0.887 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 173 0 0 192 14 6.79612 PSMC5 0 genome.wustl.edu 37 17 61908692 61908692 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 61908692 61908692 C T SNP PSMC5 ENST00000310144 human ensembl 74_37 +1 known silent c.876 p.I292 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 475 0 0 465 28 5.67951 SCN4A 0 genome.wustl.edu 37 17 62045633 62045633 + Missense_Mutation SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 62045633 62045633 G T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.786 p.S262R 0.632 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 188 0 0 161 15 8.52273 AXIN2 0 genome.wustl.edu 37 17 63553925 63553925 + Missense_Mutation SNP T T A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 63553925 63553925 T A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.814 p.R272W 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 108 0 0 73 4 5.19481 PRKCA 0 genome.wustl.edu 37 17 64492399 64492399 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 64492399 64492399 G A SNP PRKCA ENST00000413366 human ensembl 74_37 +1 known missense c.286 p.D96N 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 80 0 0 45 5 10 ABCA6 0 genome.wustl.edu 37 17 67101605 67101605 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 67101605 67101605 G A SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.2738 p.T913I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 49 0 0 54 5 8.47458 HGS 0 genome.wustl.edu 37 17 79663723 79663723 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 17 79663723 79663723 G A SNP HGS ENST00000329138 human ensembl 74_37 +1 known silent c.1653 p.K551 1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 121 0 0 93 21 18.4211 PSMG2 0 genome.wustl.edu 37 18 12720616 12720616 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 18 12720616 12720616 T C SNP PSMG2 ENST00000317615 human ensembl 74_37 +1 known missense c.515 p.I172T 0.740 pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk - no_errors PSMG2 HGNC ENSG00000128789 54 0 0 46 11 19.2982 EPB41L3 0 genome.wustl.edu 37 18 5416252 5416252 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 18 5416252 5416252 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.1632 p.P544 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 154 0 0 110 6 5.17241 SALL3 0 genome.wustl.edu 37 18 76756940 76756940 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 18 76756940 76756940 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.3521 p.R1174H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 52 0 0 60 4 6.25 PHLDB3 0 genome.wustl.edu 37 19 44008156 44008156 + Missense_Mutation SNP C C G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 44008156 44008156 C G SNP PHLDB3 ENST00000292140 human ensembl 74_37 -1 known missense c.115 p.E39Q 0.078 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 73 0 0 92 5 5.15464 ZNF841 0 genome.wustl.edu 37 19 52569052 52569052 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 52569052 52569052 T C SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known missense c.2083 p.K695E 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 39 0 0 39 4 9.30233 ZNF600 0 genome.wustl.edu 37 19 53270996 53270996 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 53270996 53270996 C A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.13 p.V5F 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 289 0 0 305 25 7.57576 ZNF471 0 genome.wustl.edu 37 19 57036484 57036484 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 57036484 57036484 G A SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.1048 p.E350K 0.039 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 ZNF471 HGNC ENSG00000196263 125 0 0 143 13 8.33333 C3 0 genome.wustl.edu 37 19 6697435 6697435 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 6697435 6697435 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2716 p.G906S 0.992 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 108 0 0 77 5 6.09756 PRSS57 0 genome.wustl.edu 37 19 686959 686959 + Missense_Mutation SNP C C G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 19 686959 686959 C G SNP PRSS57 ENST00000329267 human ensembl 74_37 -1 known missense c.611 p.R204P 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS57 HGNC ENSG00000185198 108 0 0 73 6 7.59494 ST6GAL2 0 genome.wustl.edu 37 2 107460329 107460329 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 2 107460329 107460329 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.105 p.P35 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 94 0 0 89 9 9.18367 SF3B1 0 genome.wustl.edu 37 2 198257052 198257052 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 2 198257052 198257052 C T SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.3890 p.R1297H 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 74 0 0 70 5 6.66667 FN1 0 genome.wustl.edu 37 2 216251516 216251516 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 2 216251516 216251516 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.4508 p.S1503F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 92 0 0 72 7 8.86076 ASPRV1 0 genome.wustl.edu 37 2 70188256 70188256 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 2 70188256 70188256 C A SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known missense c.565 p.A189S 1.000 superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 150 0 0 106 6 5.35714 GGTLC1 0 genome.wustl.edu 37 20 23966510 23966510 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 20 23966510 23966510 C A SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known missense c.406 p.A136S 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 299 0 0 214 15 6.55022 ZSWIM1 0 genome.wustl.edu 37 20 44511885 44511885 + Missense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 20 44511885 44511885 C A SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known missense c.654 p.S218R 0.980 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 101 0 0 74 4 5.12821 TMPRSS15 0 genome.wustl.edu 37 21 19704477 19704477 + Silent SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 21 19704477 19704477 T C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.1578 p.G526 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 117 0 0 99 10 9.17431 ELFN2 0 genome.wustl.edu 37 22 37770349 37770349 + Missense_Mutation SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 22 37770349 37770349 A G SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1226 p.V409A 1.000 pfscan_LPXTG_anchor superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 201 0 0 131 15 10.274 MME 0 genome.wustl.edu 37 3 154802082 154802082 + Silent SNP T T A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 3 154802082 154802082 T A SNP MME ENST00000360490 human ensembl 74_37 +1 known silent c.126 p.A42 0.911 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 188 0 0 170 11 6.07735 TGFBR2 0 genome.wustl.edu 37 3 30715613 30715613 + Missense_Mutation SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 3 30715613 30715613 A G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1346 p.Y449C 1.000 pirsf_Transform_growth_fac-b_typ-2,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 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 76 0 0 71 6 7.79221 SLC6A20 0 genome.wustl.edu 37 3 45812743 45812743 + Missense_Mutation SNP T T G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 3 45812743 45812743 T G SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known missense c.901 p.K301Q 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_orphan pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 81 0 0 64 12 15.7895 FYCO1 0 genome.wustl.edu 37 3 46008078 46008078 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 3 46008078 46008078 G A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known silent c.2748 p.T916 0.002 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 124 0 0 86 10 10.4167 KLB 0 genome.wustl.edu 37 4 39439368 39439368 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 4 39439368 39439368 G A SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.1358 p.R453Q 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 282 1 0.353357 239 14 5.5336 KCNN2 0 genome.wustl.edu 37 5 113740271 113740271 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 113740271 113740271 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.719 p.R240Q 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 251 0 0 241 31 11.3971 PCDHB18 0 genome.wustl.edu 37 5 140616343 140616343 + RNA SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 140616343 140616343 G T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 288 0 0 299 18 5.67823 ZFP2 0 genome.wustl.edu 37 5 178358966 178358966 + Missense_Mutation SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 178358966 178358966 G C SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known missense c.652 p.E218Q 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 102 0 0 85 6 6.59341 CDH9 0 genome.wustl.edu 37 5 26906901 26906901 + Missense_Mutation SNP G G T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 26906901 26906901 G T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.570 p.N190K 0.980 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 76 0 0 86 9 9.47368 JMY 0 genome.wustl.edu 37 5 78587100 78587100 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 78587100 78587100 G A SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.1505 p.R502Q 0.999 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 103 1 0.961538 105 10 8.69565 ELL2 0 genome.wustl.edu 37 5 95255186 95255186 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 5 95255186 95255186 T C SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.259 p.N87D 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 164 0 0 134 11 7.58621 OSTCP1 0 genome.wustl.edu 37 6 159262724 159262724 + RNA SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 6 159262724 159262724 C A SNP OSTCP1 ENST00000522287 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors OSTCP1 HGNC ENSG00000243775 181 1 0.549451 148 10 6.32911 LRFN2 0 genome.wustl.edu 37 6 40400557 40400557 + Missense_Mutation SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 6 40400557 40400557 A G SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.296 p.L99P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 59 0 0 77 7 8.33333 GPR116 0 genome.wustl.edu 37 6 46826342 46826342 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 6 46826342 46826342 C T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.3298 p.V1100I 0.942 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 84 0 0 71 7 8.97436 F13A1 0 genome.wustl.edu 37 6 6174842 6174842 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 6 6174842 6174842 G A SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1718 p.T573M 0.422 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 210 0 0 170 10 5.55556 MUC17 0 genome.wustl.edu 37 7 100685182 100685182 + Silent SNP C C G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 100685182 100685182 C G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.10485 p.T3495 0.012 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 559 0 0 483 54 10.0559 DNAJB6 0 genome.wustl.edu 37 7 157177590 157177590 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 157177590 157177590 G A SNP DNAJB6 ENST00000262177 human ensembl 74_37 +1 known missense c.508 p.G170R 0.998 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB6 HGNC ENSG00000105993 185 0 0 164 12 6.81818 DNAH11 0 genome.wustl.edu 37 7 21646341 21646341 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 21646341 21646341 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.3842 p.A1281V 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 27 0 0 38 3 7.31707 AOAH 0 genome.wustl.edu 37 7 36726313 36726313 + Missense_Mutation SNP A A G TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 36726313 36726313 A G SNP AOAH ENST00000258749 human ensembl 74_37 -1 known missense c.214 p.Y72H 1.000 superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 59 0 0 71 4 5.33333 VSTM2A 0 genome.wustl.edu 37 7 54612476 54612476 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 54612476 54612476 G A SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known missense c.238 p.A80T 0.002 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 26 0 0 31 4 11.4286 AUTS2 0 genome.wustl.edu 37 7 70231160 70231160 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 7 70231160 70231160 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.1529 p.R510H 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 149 0 0 135 10 6.89655 PKHD1L1 0 genome.wustl.edu 37 8 110464395 110464395 + Missense_Mutation SNP A A C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 110464395 110464395 A C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.6393 p.K2131N 0.202 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 61 0 0 73 4 5.19481 KCNQ3 0 genome.wustl.edu 37 8 133196524 133196524 + Nonsense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 133196524 133196524 G A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known nonsense c.568 p.R190* 0.984 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 198 0 0 157 19 10.7955 SLC45A4 0 genome.wustl.edu 37 8 142222339 142222339 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 142222339 142222339 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2258 p.T753M 0.001 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 59 0 0 40 5 11.1111 ZFHX4 0 genome.wustl.edu 37 8 77616425 77616425 + Missense_Mutation SNP A A C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 77616425 77616425 A C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.102 p.K34N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 69 0 0 58 13 18.3099 ZFHX4 0 genome.wustl.edu 37 8 77765710 77765710 + Nonsense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 8 77765710 77765710 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.6553 p.R2185* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 144 0 0 104 13 11.1111 ZNF462 0 genome.wustl.edu 37 9 109690472 109690472 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 9 109690472 109690472 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.4279 p.V1427M 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 76 0 0 69 4 5.47945 C9orf172 0 genome.wustl.edu 37 9 139741274 139741274 + Missense_Mutation SNP G G C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 9 139741274 139741274 G C SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known missense c.2408 p.G803A 1.000 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 27 0 0 13 3 18.75 IFT74 0 genome.wustl.edu 37 9 26961993 26961993 + Missense_Mutation SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 9 26961993 26961993 G A SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known missense c.28 p.A10T 0.007 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 131 0 0 113 10 8.13008 TLN1 0 genome.wustl.edu 37 9 35725613 35725613 + Missense_Mutation SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 9 35725613 35725613 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.79 p.D27N 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 252 2 0.787402 217 24 9.95851 MT-RNR2 0 genome.wustl.edu 37 MT 1913 1913 + RNA SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 MT 1913 1913 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 145 0 0 203 12 5.5814 MT-CO2 0 genome.wustl.edu 37 MT 8251 8251 + Silent SNP G G A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 MT 8251 8251 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known silent c.666 p.G222 NULL pfscan_Cyt_c_oxidase_su2_C pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 95 0 0 90 39 30.2326 SOWAHD 0 genome.wustl.edu 37 X 118893487 118893487 + Nonsense_Mutation SNP C C A TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 X 118893487 118893487 C A SNP SOWAHD ENST00000343905 human ensembl 74_37 +1 known nonsense c.857 p.S286* 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHD HGNC ENSG00000187808 55 0 0 40 5 11.1111 DCAF12L1 0 genome.wustl.edu 37 X 125685392 125685392 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 X 125685392 125685392 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.1200 p.R400 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 197 1 0.505051 148 11 6.91824 MAGEB6 0 genome.wustl.edu 37 X 26212038 26212038 + Silent SNP C C T TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 X 26212038 26212038 C T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known silent c.75 p.L25 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 110 0 0 90 9 9.09091 NLGN4X 0 genome.wustl.edu 37 X 5811186 5811186 + Missense_Mutation SNP T T C TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 X 5811186 5811186 T C SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2183 p.H728R 0.630 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 142 0 0 106 12 10.1695 MUC6 0 genome.wustl.edu 37 11 1018736 1018742 + Frame_Shift_Del DEL CGTTGTT CGTTGTT - TCGA-RD-A7BW-01A-11D-A32N-08 TCGA-RD-A7BW-10A-01D-A32N-08 CGTTGTT CGTTGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03130cd0-49f2-4c9d-b55a-7b1985b7705e ab64b35a-140a-4e55-bad3-5d8ca48c1f33 11 1018736 1018742 CGTTGTT - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.4065_4059 p.T1354fs 0.001:0.005:0.004:0.005:0.006:0.006:0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 150 0 0 130 9 6.47482