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 ACACA 0 genome.wustl.edu 37 17 35583318 35583318 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 17 35583318 35583318 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.3302 p.T1101I 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 215 0 0.00 210 111 34.58 ADAM19 0 genome.wustl.edu 37 5 156915430 156915430 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 5 156915430 156915430 A C SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.2399 p.L800R 0.358 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 tier1 - - 59 0 0.00 33 13 28.26 APBA2 0 genome.wustl.edu 37 15 29346178 29346178 + Missense_Mutation SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 15 29346178 29346178 A G SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.91 p.S31G 0.024 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 28 0 0.00 34 4 10.53 ARHGAP28 0 genome.wustl.edu 37 18 6868156 6868156 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 18 6868156 6868156 T G SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.734 p.L245R 0.990 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 43 0 0.00 30 7 18.92 BLOC1S1 0 genome.wustl.edu 37 12 56113319 56113319 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 56113319 56113319 G A SNP BLOC1S1 ENST00000548925 human ensembl 74_37 +1 known missense c.388 p.E130K 1.000 pfam_GCN5L1 pfam_GCN5L1 - no_errors BLOC1S1 HGNC ENSG00000135441 tier1 - - 77 0 0.00 80 10 11.11 BRDT 0 genome.wustl.edu 37 1 92433759 92433759 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 92433759 92433759 A C SNP BRDT ENST00000362005 human ensembl 74_37 +1 known missense c.387 p.K129N 0.999 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 tier1 - - 45 0 0.00 52 10 16.13 BSN 0 genome.wustl.edu 37 3 49689243 49689243 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 49689243 49689243 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.2254 p.G752S 0.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 16 0 0.00 35 4 10.26 CADPS 0 genome.wustl.edu 37 3 62739150 62739150 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 62739150 62739150 T G SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.854 p.K285T 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 77 0 0.00 70 20 22.22 CCDC54 0 genome.wustl.edu 37 3 107097190 107097190 + Silent SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 107097190 107097190 T G SNP CCDC54 ENST00000261058 human ensembl 74_37 +1 known silent c.756 p.T252 1.000 NULL NULL - no_errors CCDC54 HGNC ENSG00000138483 tier1 - - 98 0 0.00 88 22 20.00 CD163 0 genome.wustl.edu 37 12 7640585 7640585 + Missense_Mutation SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 7640585 7640585 A G SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1519 p.F507L 0.993 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 20 0 0.00 25 6 19.35 CD1D 0 genome.wustl.edu 37 1 158152002 158152002 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 158152002 158152002 A C SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.509 p.K170T 0.003 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 tier1 - - 151 0 0.00 147 46 23.83 CHD2 0 genome.wustl.edu 37 15 93480819 93480819 + Frame_Shift_Del DEL A A - TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 15 93480819 93480819 A - DEL CHD2 ENST00000420239 human ensembl 74_37 +1 known frame_shift_del c.515 p.V175fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 12 0 0.00 13 2 13.33 CHD9 0 genome.wustl.edu 37 16 53319522 53319522 + Frame_Shift_Del DEL G G - TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 16 53319522 53319522 G - DEL CHD9 ENST00000398510 human ensembl 74_37 +1 known frame_shift_del c.4982 p.V1662fs 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 44 0 0.00 45 9 16.67 CHIT1 0 genome.wustl.edu 37 1 203192384 203192384 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 203192384 203192384 A C SNP CHIT1 ENST00000367229 human ensembl 74_37 -1 known missense c.484 p.L162V 0.993 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIT1 HGNC ENSG00000133063 tier1 - - 125 0 0.00 120 16 11.76 CHODL 0 genome.wustl.edu 37 21 19629091 19629091 + Missense_Mutation SNP C C G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 21 19629091 19629091 C G SNP CHODL ENST00000299295 human ensembl 74_37 +1 known missense c.345 p.C115W 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CHODL HGNC ENSG00000154645 tier1 - - 67 0 0.00 30 13 30.23 CHPF 0 genome.wustl.edu 37 2 220404338 220404338 + Missense_Mutation SNP C C G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 220404338 220404338 C G SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.2095 p.E699Q 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 tier1 rs149014949 - 69 0 0.00 63 12 16.00 CLCA4 0 genome.wustl.edu 37 1 87033226 87033226 + Silent SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 87033226 87033226 G A SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known silent c.1074 p.K358 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 tier1 - - 39 0 0.00 32 16 33.33 CNTN1 0 genome.wustl.edu 37 12 41374760 41374760 + Silent SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 41374760 41374760 T G SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known silent c.1854 p.T618 0.972 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 90 0 0.00 92 26 22.03 CNTN1 0 genome.wustl.edu 37 12 41423012 41423012 + Missense_Mutation SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 41423012 41423012 A G SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2971 p.K991E 1.000 pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 147 0 0.00 113 30 20.83 CNTN1 0 genome.wustl.edu 37 12 41463801 41463801 + Silent SNP G G T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 41463801 41463801 G T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known silent c.3021 p.L1007 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 69 0 0.00 56 12 17.65 CNTN6 0 genome.wustl.edu 37 3 1363367 1363367 + Silent SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 1363367 1363367 C T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.795 p.D265 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 87 0 0.00 77 16 17.20 CNTNAP3 0 genome.wustl.edu 37 9 39177457 39177457 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 9 39177457 39177457 G A SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.785 p.T262I 0.001 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 - - 66 0 0.00 35 7 16.67 COL1A2 0 genome.wustl.edu 37 7 94057073 94057073 + Missense_Mutation SNP A A T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 7 94057073 94057073 A T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3402 p.E1134D 1.000 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 40 0 0.00 31 15 32.61 COL24A1 0 genome.wustl.edu 37 1 86306947 86306947 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 86306947 86306947 T G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.3585 p.E1195D 0.993 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 59 0 0.00 48 5 9.43 COL6A3 0 genome.wustl.edu 37 2 238285554 238285554 + Silent SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 238285554 238285554 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.2931 p.N977 0.715 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 106 0 0.00 163 14 7.91 CORO1C 0 genome.wustl.edu 37 12 109046145 109046145 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 109046145 109046145 C T SNP CORO1C ENST00000420959 human ensembl 74_37 -1 known missense c.1063 p.V355I 1.000 pfam_DUF1900,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC ENSG00000110880 tier1 - - 89 0 0.00 65 33 33.67 CPE 0 genome.wustl.edu 37 4 166416759 166416759 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 4 166416759 166416759 T G SNP CPE ENST00000402744 human ensembl 74_37 +1 known missense c.1262 p.L421R 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC ENSG00000109472 tier1 - - 103 0 0.00 53 25 32.05 CPNE9 0 genome.wustl.edu 37 3 9771352 9771352 + Silent SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 9771352 9771352 G A SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known silent c.1638 p.P546 0.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 33 0 0.00 14 5 26.32 CRB1 0 genome.wustl.edu 37 1 197390928 197390928 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 197390928 197390928 A C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.1970 p.N657T 0.476 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 102 0 0.00 92 24 20.69 CSMD3 0 genome.wustl.edu 37 8 113650996 113650996 + Missense_Mutation SNP T T C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 8 113650996 113650996 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.3455 p.N1152S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 70 0 0.00 63 34 35.05 DNAH8 0 genome.wustl.edu 37 6 38897314 38897314 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 38897314 38897314 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.10495 p.R3499C 1.000 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 DNAH8 HGNC ENSG00000124721 tier1 - - 125 0 0.00 154 9 5.52 DNAH9 0 genome.wustl.edu 37 17 11511578 11511578 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 17 11511578 11511578 A C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.550 p.T184P 1.000 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 DNAH9 HGNC ENSG00000007174 tier1 - - 147 0 0.00 95 39 28.89 DSEL 0 genome.wustl.edu 37 18 65179896 65179896 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 18 65179896 65179896 T G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1980 p.E660D 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 71 0 0.00 50 17 25.37 EHBP1 0 genome.wustl.edu 37 2 63175543 63175543 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 63175543 63175543 A C SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.1667 p.Q556P 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 - - 52 0 0.00 44 24 34.78 ENSG00000232274 0 genome.wustl.edu 37 1 143210436 143210436 + RNA SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 143210436 143210436 G A SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs201592860 - 12 0 0.00 7 4 36.36 ERBB4 0 genome.wustl.edu 37 2 212587166 212587166 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 212587166 212587166 A C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.835 p.F279V 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 54 0 0.00 58 18 23.68 FAM227B 0 genome.wustl.edu 37 15 49880220 49880220 + Frame_Shift_Del DEL T T - TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 15 49880220 49880220 T - DEL FAM227B ENST00000299338 human ensembl 74_37 -1 known frame_shift_del c.398 p.K133fs 0.999 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 tier1 42 0 0.00 36 2 5.26 FLNC 0 genome.wustl.edu 37 7 128477754 128477754 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 7 128477754 128477754 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.914 p.A305V 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 12 0 0.00 7 4 36.36 FMN2 0 genome.wustl.edu 37 1 240255526 240255526 + Missense_Mutation SNP C C A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 240255526 240255526 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.117 p.S39R 0.007 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 11 0 0.00 6 6 50.00 FSHR 0 genome.wustl.edu 37 2 49244662 49244662 + Missense_Mutation SNP C C G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 49244662 49244662 C G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.340 p.E114Q 1.000 prints_FSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 33 0 0.00 39 12 23.53 GAB4 0 genome.wustl.edu 37 22 17488993 17488993 + Silent SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 22 17488993 17488993 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known silent c.12 p.P4 0.017 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 tier1 - - 31 0 0.00 14 5 26.32 GAD2 0 genome.wustl.edu 37 10 26508089 26508089 + Missense_Mutation SNP T T C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 10 26508089 26508089 T C SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.404 p.F135S 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 tier1 - - 96 0 0.00 74 17 18.68 GAGE10 0 genome.wustl.edu 37 X 49161381 49161381 + Missense_Mutation SNP C C G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 X 49161381 49161381 C G SNP GAGE10 ENST00000407599 human ensembl 74_37 +1 known missense c.43 p.L15V 0.000 pfam_GAGE pfam_GAGE - no_errors GAGE10 HGNC ENSG00000215274 tier1 - - 152 0 0.00 110 80 42.11 GALNT10 0 genome.wustl.edu 37 5 153796519 153796519 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 5 153796519 153796519 T G SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known missense c.1799 p.F600C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 tier1 - - 84 0 0.00 54 17 23.94 GLTSCR1 0 genome.wustl.edu 37 19 48197890 48197891 + Frame_Shift_Ins INS - - C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 19 48197890 48197891 - C INS GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_ins c.2802_2803 p.P937fs 0.044:0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 tier1 22 0 0.00 20 4 16.67 GRM1 0 genome.wustl.edu 37 6 146720607 146720607 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 146720607 146720607 A C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2432 p.K811T 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 45 0 0.00 42 13 23.64 GXYLT2 0 genome.wustl.edu 37 3 73024223 73024223 + Silent SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 73024223 73024223 A G SNP GXYLT2 ENST00000389617 human ensembl 74_37 +1 known silent c.1245 p.Q415 0.996 NULL pfam_Glyco_trans_8 - no_errors GXYLT2 HGNC ENSG00000172986 tier1 - - 56 0 0.00 55 14 20.29 HCFC2 0 genome.wustl.edu 37 12 104476586 104476586 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 104476586 104476586 G A SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known missense c.970 p.G324S 0.999 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 tier1 rs144090047 - 76 0 0.00 56 19 25.33 HEXIM2 0 genome.wustl.edu 37 17 43246671 43246671 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 17 43246671 43246671 G A SNP HEXIM2 ENST00000307275 human ensembl 74_37 +1 known missense c.356 p.R119K 1.000 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 tier1 - - 26 0 0.00 23 17 42.50 HNF4G 0 genome.wustl.edu 37 8 76452251 76452251 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 8 76452251 76452251 A C SNP HNF4G ENST00000396423 human ensembl 74_37 +1 known missense c.24 p.E8D 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 tier1 - - 110 0 0.00 81 47 36.72 IGF2BP3 0 genome.wustl.edu 37 7 23358875 23358875 + Splice_Site SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 7 23358875 23358875 T G SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known splice_site c.1204-2 e11-2 1.000 - - - no_errors IGF2BP3 HGNC ENSG00000136231 tier1 - - 113 0 0.00 99 32 24.43 IGSF1 0 genome.wustl.edu 37 X 130410206 130410206 + Silent SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 X 130410206 130410206 G A SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.2640 p.P880 0.943 pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 16 0 0.00 10 8 44.44 IMPG1 0 genome.wustl.edu 37 6 76744045 76744045 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 76744045 76744045 T G SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.484 p.S162R 0.238 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 72 0 0.00 63 23 26.74 INA 0 genome.wustl.edu 37 10 105037125 105037125 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 10 105037125 105037125 G A SNP INA ENST00000369849 human ensembl 74_37 +1 known missense c.157 p.A53T 0.996 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 tier1 - - 12 0 0.00 7 4 36.36 INPPL1 0 genome.wustl.edu 37 11 71946756 71946756 + Silent SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 11 71946756 71946756 G A SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known silent c.2697 p.K899 0.992 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 tier1 - - 33 0 0.00 34 16 32.00 IRF1 0 genome.wustl.edu 37 5 131819646 131819646 + Silent SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 5 131819646 131819646 C T SNP IRF1 ENST00000245414 human ensembl 74_37 -1 known silent c.975 p.P325 0.022 NULL pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 tier1 - - 36 0 0.00 27 8 22.86 IRF4 0 genome.wustl.edu 37 6 395910 395910 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 395910 395910 C T SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.467 p.T156M 0.259 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 tier1 - - 38 0 0.00 21 8 27.59 KCNK18 0 genome.wustl.edu 37 10 118957178 118957178 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 10 118957178 118957178 A C SNP KCNK18 ENST00000334549 human ensembl 74_37 +1 known missense c.179 p.K60T 0.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 tier1 - - 33 0 0.00 36 30 45.45 KCNT2 0 genome.wustl.edu 37 1 196311298 196311298 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 196311298 196311298 T G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1464 p.E488D 1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 85 0 0.00 79 24 23.30 KIAA1199 0 genome.wustl.edu 37 15 81234301 81234301 + Silent SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 15 81234301 81234301 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known silent c.3519 p.G1173 0.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 tier1 rs145572198 - 16 0 0.00 23 15 39.47 KMT2C 0 genome.wustl.edu 37 7 151879327 151879327 + Missense_Mutation SNP G G T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 7 151879327 151879327 G T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.5618 p.T1873N 0.469 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 55 0 0.00 59 19 24.36 KRT74 0 genome.wustl.edu 37 12 52964596 52964596 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 52964596 52964596 G A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.865 p.H289Y 0.881 pfam_IF pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 tier1 - - 31 0 0.00 35 9 20.45 LAYN 0 genome.wustl.edu 37 11 111430953 111430953 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 11 111430953 111430953 C T SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.919 p.R307W 0.992 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 tier1 - - 39 0 0.00 30 16 34.04 LCT 0 genome.wustl.edu 37 2 136562572 136562572 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 136562572 136562572 G A SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.4229 p.S1410F 0.974 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 36 0 0.00 31 4 11.43 LRP1B 0 genome.wustl.edu 37 2 141816568 141816568 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 141816568 141816568 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1292 p.S431F 0.915 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 92 0 0.00 85 24 22.02 LYST 0 genome.wustl.edu 37 1 235827346 235827346 + Missense_Mutation SNP G G T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 235827346 235827346 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.11205 p.S3735R 0.985 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 60 0 0.00 74 5 6.33 MAGEC1 0 genome.wustl.edu 37 X 140995001 140995001 + Missense_Mutation SNP A A T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 X 140995001 140995001 A T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1811 p.D604V 0.073 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 137 0 0.00 90 77 46.11 MCCC1 0 genome.wustl.edu 37 3 182751817 182751817 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 182751817 182751817 G A SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known missense c.1643 p.S548L 0.000 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 tier1 - - 107 0 0.00 72 17 19.10 ME1 0 genome.wustl.edu 37 6 83947439 83947439 + Silent SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 83947439 83947439 A G SNP ME1 ENST00000369705 human ensembl 74_37 -1 known silent c.1023 p.V341 0.876 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 tier1 - - 28 0 0.00 19 8 29.63 MED12L 0 genome.wustl.edu 37 3 151095920 151095920 + Silent SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 151095920 151095920 T G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known silent c.4332 p.G1444 0.512 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 30 0 0.00 19 6 24.00 MIR409 0 genome.wustl.edu 37 14 101531667 101531667 + RNA SNP T T A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 14 101531667 101531667 T A SNP MIR409 ENST00000362237 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR409 HGNC ENSG00000199107 tier1 - - 55 0 0.00 45 17 27.42 MORC1 0 genome.wustl.edu 37 3 108682272 108682272 + Missense_Mutation SNP T T C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 108682272 108682272 T C SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.2788 p.K930E 0.995 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 94 0 0.00 87 26 23.01 MROH9 0 genome.wustl.edu 37 1 170928682 170928682 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 170928682 170928682 A C SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.232 p.S78R 0.032 NULL superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 50 0 0.00 58 14 19.44 MST4 0 genome.wustl.edu 37 X 131208168 131208168 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 X 131208168 131208168 C T SNP MST4 ENST00000394334 human ensembl 74_37 +1 known missense c.1232 p.S411L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_gn ENSG00000134602 tier1 - - 80 0 0.00 43 30 41.10 MTERFD2 0 genome.wustl.edu 37 2 242035331 242035331 + RNA SNP A A T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 242035331 242035331 A T SNP MTERFD2 ENST00000488567 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors MTERFD2 HGNC ENSG00000122085 tier1 - - 92 0 0.00 131 33 20.12 MTHFD1L 0 genome.wustl.edu 37 6 151358148 151358148 + Silent SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 151358148 151358148 A G SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known silent c.2742 p.L914 0.904 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 81 0 0.00 86 7 7.53 MUC16 0 genome.wustl.edu 37 19 9063142 9063142 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 19 9063142 9063142 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24304 p.T8102P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 41 0 0.00 52 20 27.78 MUC16 0 genome.wustl.edu 37 19 9091605 9091605 + Silent SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 19 9091605 9091605 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.210 p.S70 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 50 0 0.00 55 14 20.29 MYH8 0 genome.wustl.edu 37 17 10303962 10303962 + Silent SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 17 10303962 10303962 A C SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.3480 p.T1160 0.178 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 147 0 0.00 61 26 29.89 MYO15A 0 genome.wustl.edu 37 17 18064645 18064645 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 17 18064645 18064645 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.9401 p.R3134Q 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 28 0 0.00 14 7 33.33 NFKBIZ 0 genome.wustl.edu 37 3 101574053 101574053 + Splice_Site SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 101574053 101574053 G A SNP NFKBIZ ENST00000326172 human ensembl 74_37 +1 known splice_site c.1590+1 e7+1 1.000 - - - no_errors NFKBIZ HGNC ENSG00000144802 30 0 0.00 28 4 12.50 NHS 0 genome.wustl.edu 37 X 17750499 17750499 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 X 17750499 17750499 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.4808 p.T1603M 0.864 NULL NULL - no_errors NHS HGNC ENSG00000188158 tier1 - - 23 0 0.00 29 11 27.50 NOVA1 0 genome.wustl.edu 37 14 26917395 26917395 + Silent SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 14 26917395 26917395 A G SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known silent c.1294 p.L432 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 tier1 - - 48 0 0.00 41 9 18.00 NTRK3 0 genome.wustl.edu 37 15 88576204 88576204 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 15 88576204 88576204 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.1469 p.T490M 0.988 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 24 0 0.00 20 11 35.48 OBSL1 0 genome.wustl.edu 37 2 220419261 220419261 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 220419261 220419261 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.4811 p.A1604V 0.413 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 23 0 0.00 23 4 14.81 OCA2 0 genome.wustl.edu 37 15 28326929 28326929 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 15 28326929 28326929 A C SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.92 p.L31R 0.000 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 27 0 0.00 18 8 30.77 OPHN1 0 genome.wustl.edu 37 X 67412703 67412703 + RNA SNP C C G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 X 67412703 67412703 C G SNP OPHN1 ENST00000467444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OPHN1 HGNC ENSG00000079482 tier1 - - 13 0 0.00 9 7 43.75 OR3A2 0 genome.wustl.edu 37 17 3182220 3182220 + Missense_Mutation SNP G G T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 17 3182220 3182220 G T SNP OR3A2 ENST00000408891 human ensembl 74_37 -1 known missense c.10 p.Q4K 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A2 HGNC ENSG00000221882 tier1 - - 32 0 0.00 15 9 37.50 OR4M1 0 genome.wustl.edu 37 14 20249070 20249070 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 14 20249070 20249070 T G SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.589 p.L197V 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 tier1 - - 296 0 0.00 233 29 11.07 OR51G1 0 genome.wustl.edu 37 11 4945544 4945544 + Missense_Mutation SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 11 4945544 4945544 A G SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.26 p.L9P 0.323 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 tier1 - - 54 0 0.00 41 15 26.79 OR52D1 0 genome.wustl.edu 37 11 5510808 5510808 + Missense_Mutation SNP T T C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 11 5510808 5510808 T C SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known missense c.872 p.L291P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 tier1 - - 32 0 0.00 25 6 19.35 OR5L2 0 genome.wustl.edu 37 11 55595218 55595218 + Missense_Mutation SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 11 55595218 55595218 A G SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.524 p.N175S 0.321 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 174 0 0.00 105 41 28.08 OR6K3 0 genome.wustl.edu 37 1 158687131 158687131 + Silent SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 158687131 158687131 A G SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known silent c.823 p.L275 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 tier1 - - 63 0 0.00 31 10 24.39 OR6Y1 0 genome.wustl.edu 37 1 158517349 158517349 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 158517349 158517349 A C SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.547 p.F183V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 tier1 - - 23 0 0.00 18 5 21.74 OR7A17 0 genome.wustl.edu 37 19 14991857 14991857 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 19 14991857 14991857 A C SNP OR7A17 ENST00000327462 human ensembl 74_37 -1 known missense c.311 p.F104C 0.094 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 tier1 - - 52 0 0.00 41 14 25.45 OR8G1 0 genome.wustl.edu 37 11 124121194 124121194 + Missense_Mutation SNP A A T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 11 124121194 124121194 A T SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.772 p.M258L 0.968 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G1 HGNC ENSG00000197849 tier1 - - 79 0 0.00 46 14 23.33 OTOF 0 genome.wustl.edu 37 2 26683866 26683866 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 26683866 26683866 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.5566 p.R1856W 0.992 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 28 0 0.00 17 7 29.17 PARP8 0 genome.wustl.edu 37 5 50090917 50090917 + Missense_Mutation SNP G G C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 5 50090917 50090917 G C SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.1094 p.R365P 0.998 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 67 0 0.00 80 11 12.09 PCDH10 0 genome.wustl.edu 37 4 134072241 134072241 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 4 134072241 134072241 T G SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.946 p.L316V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 50 0 0.00 26 14 35.00 PCDHA10 0 genome.wustl.edu 37 5 140237239 140237239 + Missense_Mutation SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 5 140237239 140237239 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1606 p.A536T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 120 0 0.00 99 23 18.85 PCDHA4 0 genome.wustl.edu 37 5 140189039 140189039 + Missense_Mutation SNP C C A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 5 140189039 140189039 C A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.2267 p.P756Q 0.014 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 66 0 0.00 67 26 27.96 PCDHA6 0 genome.wustl.edu 37 5 140207889 140207889 + Silent SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 5 140207889 140207889 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.213 p.R71 0.011 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 163 0 0.00 128 38 22.89 PCLO 0 genome.wustl.edu 37 7 82584231 82584231 + Missense_Mutation SNP T T C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 7 82584231 82584231 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6038 p.E2013G 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 76 0 0.00 74 27 26.73 PLEKHG7 0 genome.wustl.edu 37 12 93150131 93150131 + Nonsense_Mutation SNP A A T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 93150131 93150131 A T SNP PLEKHG7 ENST00000344636 human ensembl 74_37 +1 known nonsense c.664 p.R222* 0.999 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG7 HGNC ENSG00000187510 tier1 - - 82 0 0.00 84 17 16.83 PLOD2 0 genome.wustl.edu 37 3 145804693 145804693 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 145804693 145804693 T G SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.1008 p.E336D 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 tier1 - - 28 0 0.00 21 7 25.00 PLXNA3 0 genome.wustl.edu 37 X 153690649 153690649 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 X 153690649 153690649 A C SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.1316 p.K439T 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 tier1 - - 25 0 0.00 16 12 42.86 PRSS23 0 genome.wustl.edu 37 11 86519094 86519094 + Missense_Mutation SNP T T C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 11 86519094 86519094 T C SNP PRSS23 ENST00000280258 human ensembl 74_37 +1 known missense c.409 p.F137L 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS23 HGNC ENSG00000150687 tier1 - - 83 0 0.00 67 20 22.73 PTEN 0 genome.wustl.edu 37 10 89711874 89711874 + Splice_Site SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 10 89711874 89711874 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known splice_site c.493-1 e6-1 1.000 - - - no_errors PTEN HGNC ENSG00000171862 tier1 - - 112 0 0.00 61 27 30.68 PTPRJ 0 genome.wustl.edu 37 11 48177374 48177374 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 11 48177374 48177374 T G SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.3251 p.L1084R 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 - - 33 0 0.00 23 10 30.30 RAD51C 0 genome.wustl.edu 37 17 56770152 56770155 + Frame_Shift_Del DEL AACG AACG - TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 AACG AACG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 17 56770152 56770155 AACG - DEL RAD51C ENST00000475762 human ensembl 74_37 +1 known frame_shift_del c.148_151 p.N50fs 0.993:0.597:0.071:0.003 NULL NULL - no_errors RAD51C HGNC ENSG00000108384 tier1 68 0 0.00 43 20 31.75 RAP1GDS1 0 genome.wustl.edu 37 4 99338026 99338026 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 4 99338026 99338026 A C SNP RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known missense c.897 p.L299F 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 tier1 - - 91 0 0.00 53 21 28.38 RXFP2 0 genome.wustl.edu 37 13 32352709 32352709 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 13 32352709 32352709 A C SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.774 p.Q258H 0.994 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 129 0 0.00 115 24 17.27 SDF4 0 genome.wustl.edu 37 1 1153858 1153858 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 1153858 1153858 C T SNP SDF4 ENST00000360001 human ensembl 74_37 -1 known missense c.892 p.V298M 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 tier1 rs113681668 - 25 0 0.00 30 6 16.67 SEMA6D 0 genome.wustl.edu 37 15 48053181 48053181 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 15 48053181 48053181 A C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.228 p.Q76H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 30 0 0.00 32 12 27.27 SETD1A 0 genome.wustl.edu 37 16 30976448 30976448 + Missense_Mutation SNP C C A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 16 30976448 30976448 C A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.1385 p.P462Q 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 14 0 0.00 23 4 14.81 SNRNP200 0 genome.wustl.edu 37 2 96952128 96952128 + Silent SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 96952128 96952128 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.3924 p.P1308 0.983 superfamily_P-loop_NTPase pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 86 0 0.00 94 12 11.32 SPEG 0 genome.wustl.edu 37 2 220353226 220353226 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 220353226 220353226 A C SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.7865 p.K2622T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 63 0 0.00 72 24 25.00 SPIRE1 0 genome.wustl.edu 37 18 12449700 12449700 + Silent SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 18 12449700 12449700 G A SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known silent c.2208 p.F736 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 tier1 - - 38 0 0.00 40 9 18.00 SPOCK3 0 genome.wustl.edu 37 4 167833843 167833843 + Silent SNP G G A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 4 167833843 167833843 G A SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known silent c.411 p.S137 0.974 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 37 0 0.00 24 9 27.27 ST8SIA1 0 genome.wustl.edu 37 12 22354674 22354674 + Missense_Mutation SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 12 22354674 22354674 A G SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known missense c.883 p.F295L 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 tier1 - - 41 0 0.00 47 14 22.95 TAOK1 0 genome.wustl.edu 37 17 27778696 27778696 + Missense_Mutation SNP T T A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 17 27778696 27778696 T A SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known missense c.130 p.F44I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 tier1 - - 85 0 0.00 56 43 43.43 TBC1D31 0 genome.wustl.edu 37 8 124105858 124105858 + Missense_Mutation SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 8 124105858 124105858 A G SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.547 p.I183V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 tier1 - - 44 0 0.00 65 17 20.73 THSD7B 0 genome.wustl.edu 37 2 138169313 138169313 + Silent SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 138169313 138169313 A C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.2830 p.R944 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 71 0 0.00 56 6 9.68 TLR3 0 genome.wustl.edu 37 4 187004142 187004142 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 4 187004142 187004142 A C SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known missense c.1302 p.E434D 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 tier1 - - 53 0 0.00 44 8 15.38 TMEM175 0 genome.wustl.edu 37 4 952215 952215 + Silent SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 4 952215 952215 C T SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known silent c.1446 p.P482 0.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 tier1 - - 10 0 0.00 5 5 50.00 TMEM9 0 genome.wustl.edu 37 1 201120972 201120972 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 201120972 201120972 T G SNP TMEM9 ENST00000367330 human ensembl 74_37 -1 known missense c.75 p.E25D 0.996 NULL pfam_TMEM9 - no_errors TMEM9 HGNC ENSG00000116857 tier1 - - 126 0 0.00 134 40 22.99 TRAK1 0 genome.wustl.edu 37 3 42236308 42236308 + Missense_Mutation SNP G G C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 3 42236308 42236308 G C SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.814 p.E272Q 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 - - 22 0 0.00 18 7 28.00 TTK 0 genome.wustl.edu 37 6 80723078 80723078 + Missense_Mutation SNP T T A TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 80723078 80723078 T A SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.979 p.L327I 0.880 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 tier1 - - 108 0 0.00 98 22 18.33 TTN 0 genome.wustl.edu 37 2 179639659 179639659 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 179639659 179639659 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.6779 p.L2260R 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 41 0 0.00 50 9 15.25 UBE2C 0 genome.wustl.edu 37 20 44444262 44444262 + Missense_Mutation SNP C C G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 20 44444262 44444262 C G SNP UBE2C ENST00000356455 human ensembl 74_37 +1 known missense c.299 p.T100R 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2C HGNC ENSG00000175063 tier1 - - 83 0 0.00 77 31 28.70 UVSSA 0 genome.wustl.edu 37 4 1347133 1347133 + Missense_Mutation SNP T T C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 4 1347133 1347133 T C SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.866 p.L289P 0.000 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 tier1 - - 14 0 0.00 7 4 36.36 VGLL2 0 genome.wustl.edu 37 6 117586953 117586953 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 117586953 117586953 A C SNP VGLL2 ENST00000326274 human ensembl 74_37 +1 known missense c.27 p.Q9H 1.000 NULL pfam_Vg_Tdu - no_errors VGLL2 HGNC ENSG00000170162 tier1 - - 59 0 0.00 28 8 22.22 VRTN 0 genome.wustl.edu 37 14 74824985 74824985 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 14 74824985 74824985 T G SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.1499 p.L500R 0.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 tier1 - - 75 0 0.00 61 16 20.78 WASF1 0 genome.wustl.edu 37 6 110424686 110424686 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 6 110424686 110424686 A C SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known missense c.788 p.L263R 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 tier1 - - 64 0 0.00 57 22 27.85 WEE2 0 genome.wustl.edu 37 7 141418931 141418931 + Silent SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 7 141418931 141418931 T G SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known silent c.645 p.V215 0.932 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom 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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 tier1 - - 94 0 0.00 111 20 15.27 ZEB2 0 genome.wustl.edu 37 2 145154083 145154083 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 145154083 145154083 C T SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2963 p.R988H 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 85 0 0.00 73 22 23.16 ZFYVE9 0 genome.wustl.edu 37 1 52759142 52759142 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 1 52759142 52759142 T G SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.3043 p.L1015V 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 - - 64 0 0.00 57 13 18.57 ZMIZ1 0 genome.wustl.edu 37 10 81060645 81060645 + Silent SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 10 81060645 81060645 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known silent c.1965 p.H655 0.994 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 tier1 - - 41 0 0.00 40 82 67.21 ZNF12 0 genome.wustl.edu 37 7 6731332 6731332 + Missense_Mutation SNP C C T TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 7 6731332 6731332 C T SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known missense c.1241 p.C414Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 34 0 0.00 29 3 9.38 ZNF347 0 genome.wustl.edu 37 19 53645614 53645614 + Missense_Mutation SNP A A G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 19 53645614 53645614 A G SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.470 p.L157P 0.000 NULL 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 ZNF347 HGNC ENSG00000197937 tier1 - - 106 0 0.00 97 24 19.83 ZNF638 0 genome.wustl.edu 37 2 71645629 71645629 + RNA DEL T T - TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 71645629 71645629 T - DEL ZNF638 ENST00000483421 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF638 HGNC ENSG00000075292 tier1 15 0 0.00 21 5 19.23 ZNF790 0 genome.wustl.edu 37 19 37310989 37310989 + Missense_Mutation SNP T T G TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 19 37310989 37310989 T G SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.257 p.K86T 0.026 NULL 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 ZNF790 HGNC ENSG00000197863 tier1 - - 38 0 0.00 48 11 18.64 ZNF804A 0 genome.wustl.edu 37 2 185803409 185803409 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 2 185803409 185803409 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.3286 p.T1096P 0.957 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 49 0 0.00 53 12 18.46 ZRANB1 0 genome.wustl.edu 37 10 126631678 126631678 + Missense_Mutation SNP A A C TCGA-R5-A805-01A-11D-A364-08 TCGA-R5-A805-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82da59d4-44a1-4625-9bb0-de2987344e5e 5bee69ed-92b3-4c54-b6c5-775adb6ef510 10 126631678 126631678 A C SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known missense c.616 p.S206R 0.398 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 tier1 - - 55 0 0.00 33 47 58.02