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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val TRPM6 0 genome.wustl.edu 37 9 77377882 77377882 + Silent SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 9 77377882 77377882 C T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known silent c.3705 p.E1235 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 44 0 0.00 35 11 23.91 54 0 0.00 96 21 17.95 FOLH1 0 genome.wustl.edu 37 11 49194970 49194970 + Silent SNP A A C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 11 49194970 49194970 A C SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.1164 p.P388 1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 110 0 0.00 73 9 10.98 134 0 0.00 163 20 10.93 COL18A1 0 genome.wustl.edu 37 21 46923945 46923945 + Missense_Mutation SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 21 46923945 46923945 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.3949 p.L1317F 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 106 0 0.00 48 7 12.73 49 0 0.00 39 16 29.09 DYSF 0 genome.wustl.edu 37 2 71896858 71896858 + Silent SNP C C A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 2 71896858 71896858 C A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.5742 p.V1914 0.999 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 91 0 0.00 52 15 22.39 70 0 0.00 98 24 19.67 F9 0 genome.wustl.edu 37 X 138612959 138612959 + Silent SNP A A G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 X 138612959 138612959 A G SNP F9 ENST00000218099 human ensembl 74_37 +1 known silent c.36 p.P12 0.001 pirsf_Pept_S1A_FX pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 tier1 - - 28 0 0.00 15 10 40.00 53 0 0.00 39 26 39.39 FGFR4 0 genome.wustl.edu 37 5 176523681 176523681 + Silent SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 5 176523681 176523681 C T SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known silent c.2092 p.L698 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 - - 104 0 0.00 71 17 19.32 28 0 0.00 36 5 12.20 ACTL8 0 genome.wustl.edu 37 1 18152586 18152586 + Missense_Mutation SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 1 18152586 18152586 C T SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known missense c.673 p.R225C 0.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 tier1 - - 77 0 0.00 56 16 22.22 31 0 0.00 53 19 26.39 OR52A1 0 genome.wustl.edu 37 11 5172926 5172926 + Missense_Mutation SNP A A T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 11 5172926 5172926 A T SNP OR52A1 ENST00000328942 human ensembl 74_37 -1 known missense c.674 p.F225Y 0.825 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A1 HGNC ENSG00000182070 tier1 - - 72 0 0.00 56 6 9.68 69 0 0.00 103 15 12.71 MARK3 0 genome.wustl.edu 37 14 103969310 103969310 + Missense_Mutation SNP A A T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 14 103969310 103969310 A T SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.2008 p.M670L 1.000 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 tier1 - - 110 0 0.00 90 13 12.50 76 0 0.00 143 19 11.73 ASTN2 0 genome.wustl.edu 37 9 119488226 119488226 + Missense_Mutation SNP A A T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 9 119488226 119488226 A T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2630 p.F877Y 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 43 0 0.00 49 21 30.00 60 1 1.64 104 19 15.45 KIAA0020 0 genome.wustl.edu 37 9 2833369 2833369 + Silent SNP C C A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 9 2833369 2833369 C A SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known silent c.504 p.G168 0.822 superfamily_ARM-type_fold,smart_Pumilio_R-bd_rpt,pfscan_Pumilio_R-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_R-bd_rpt,pfscan_Pumilio_R-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 tier1 - - 86 0 0.00 27 30 52.63 73 0 0.00 59 62 51.24 RDH10 0 genome.wustl.edu 37 8 74234977 74234977 + Missense_Mutation SNP G G T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 8 74234977 74234977 G T SNP RDH10 ENST00000240285 human ensembl 74_37 +1 known missense c.834 p.K278N 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH10 HGNC ENSG00000121039 tier1 - - 57 0 0.00 33 7 17.50 66 0 0.00 59 10 14.49 VAMP7 0 genome.wustl.edu 37 X 155119268 155119268 + Missense_Mutation SNP C C A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 X 155119268 155119268 C A SNP VAMP7 ENST00000262640 human ensembl 74_37 +1 known missense c.139 p.H47N 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors VAMP7 HGNC ENSG00000124333 tier1 - - 314 0 0.00 145 39 21.20 79 0 0.00 93 23 19.83 FAT3 0 genome.wustl.edu 37 11 92623796 92623796 + Silent SNP T T A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 11 92623796 92623796 T A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.13287 p.G4429 0.927 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 58 0 0.00 37 10 21.28 105 0 0.00 99 17 14.66 PTPRB 0 genome.wustl.edu 37 12 71003064 71003064 + Missense_Mutation SNP G G C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 12 71003064 71003064 G C SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.764 p.S255C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 67 0 0.00 32 12 27.27 68 0 0.00 80 14 14.74 FMO6P 0 genome.wustl.edu 37 1 171121165 171121165 + Missense_Mutation SNP A A T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 1 171121165 171121165 A T SNP FMO6P ENST00000236166 human ensembl 74_37 +1 novel missense c.944 p.D315V 1.000 pfam_Flavin_mOase-like,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1 - no_errors FMO6P HGNC ENSG00000117507 tier1 - - 122 0 0.00 97 24 19.83 131 1 0.75 137 39 22.16 LRRC17 0 genome.wustl.edu 37 7 102575070 102575070 + Missense_Mutation SNP T T C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 7 102575070 102575070 T C SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known missense c.710 p.V237A 0.548 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 tier1 - - 98 0 0.00 85 14 14.14 106 0 0.00 189 24 11.27 BIRC6 0 genome.wustl.edu 37 2 32728303 32728303 + Missense_Mutation SNP G G T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 2 32728303 32728303 G T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.9499 p.G3167C 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 15 0 0.00 10 6 37.50 103 0 0.00 92 38 29.23 GRAP2 0 genome.wustl.edu 37 22 40362092 40362092 + Missense_Mutation SNP A A T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 22 40362092 40362092 A T SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known missense c.389 p.D130V 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 tier1 - - 85 0 0.00 74 10 11.90 100 0 0.00 138 23 14.29 LMAN1L 0 genome.wustl.edu 37 15 75108829 75108829 + Nonsense_Mutation SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 15 75108829 75108829 G A SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known nonsense c.392 p.W131* 0.944 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 tier1 - - 108 0 0.00 79 12 13.19 15 0 0.00 36 7 16.28 KCNIP4 0 genome.wustl.edu 37 4 20852198 20852198 + Missense_Mutation SNP C C G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 4 20852198 20852198 C G SNP KCNIP4 ENST00000382150 human ensembl 74_37 -1 known missense c.193 p.E65Q 1.000 prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP4 HGNC ENSG00000185774 tier1 - - 76 0 0.00 53 10 15.87 65 0 0.00 92 16 14.81 ADH7 0 genome.wustl.edu 37 4 100349015 100349015 + Missense_Mutation SNP A A G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 4 100349015 100349015 A G SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known missense c.515 p.I172T 0.348 pfam_ADH_GroES-like,superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 tier1 - - 66 0 0.00 53 10 15.87 104 0 0.00 91 15 14.15 RBM27 0 genome.wustl.edu 37 5 145640406 145640406 + Missense_Mutation SNP A A G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 5 145640406 145640406 A G SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.1838 p.N613S 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 - - 91 0 0.00 45 17 27.42 135 0 0.00 118 41 25.79 LDLRAP1 0 genome.wustl.edu 37 1 25894558 25894558 + R SNP C C G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 1 25894558 25894558 C G SNP LDLRAP1 ENST00000488127 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LDLRAP1 HGNC ENSG00000157978 tier1 - - 108 0 0.00 80 27 25.23 107 0 0.00 125 33 20.89 GRM3 0 genome.wustl.edu 37 7 86415654 86415654 + Silent SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 7 86415654 86415654 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.546 p.S182 0.026 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 71 0 0.00 72 9 11.11 70 0 0.00 88 11 11.00 ZFX 0 genome.wustl.edu 37 X 24197842 24197842 + Missense_Mutation SNP C C A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 X 24197842 24197842 C A SNP ZFX ENST00000540034 human ensembl 74_37 +1 known missense c.718 p.Q240K 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 tier1 - - 43 0 0.00 35 10 22.22 29 0 0.00 74 13 14.94 IL23R 0 genome.wustl.edu 37 1 67724171 67724171 + Missense_Mutation SNP A A G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 1 67724171 67724171 A G SNP IL23R ENST00000347310 human ensembl 74_37 +1 known missense c.1250 p.E417G 0.194 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 tier1 - - 62 0 0.00 64 15 18.99 90 0 0.00 78 28 26.42 ZNF677 0 genome.wustl.edu 37 19 53741760 53741760 + Missense_Mutation SNP T T C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 19 53741760 53741760 T C SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.220 p.K74E 0.012 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 tier1 - - 33 0 0.00 26 4 13.33 80 0 0.00 66 14 17.50 TRIM40 0 genome.wustl.edu 37 6 30114784 30114784 + Missense_Mutation SNP A A G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 6 30114784 30114784 A G SNP TRIM40 ENST00000376724 human ensembl 74_37 +1 known missense c.464 p.H155R 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_tR-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM40 HGNC ENSG00000204614 tier1 - - 64 0 0.00 58 13 18.31 63 0 0.00 89 23 20.54 RPH3A 0 genome.wustl.edu 37 12 113306340 113306340 + Missense_Mutation SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 12 113306340 113306340 C T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.550 p.P184S 0.937 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 59 0 0.00 26 9 25.71 60 0 0.00 69 13 15.85 TPX2 0 genome.wustl.edu 37 20 30371630 30371630 + Missense_Mutation SNP G G T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 20 30371630 30371630 G T SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.1427 p.R476I 1.000 pfam_TPX2_central_dom pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 tier1 - - 129 0 0.00 106 15 12.40 91 0 0.00 115 14 10.85 SELP 0 genome.wustl.edu 37 1 169580819 169580819 + Missense_Mutation SNP T T C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 1 169580819 169580819 T C SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.1058 p.E353G 0.010 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 tier1 - - 99 0 0.00 84 13 13.40 59 1 1.67 84 19 18.45 CSF2RA 0 genome.wustl.edu 37 X 1419414 1419414 + Missense_Mutation SNP T T C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 X 1419414 1419414 T C SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.841 p.Y281H 0.010 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 339 0 0.00 236 24 9.23 78 0 0.00 88 18 16.98 GRIK1 0 genome.wustl.edu 37 21 30927609 30927609 + Missense_Mutation SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 21 30927609 30927609 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.2377 p.D793N 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 tier1 - - 46 0 0.00 37 11 22.92 117 0 0.00 115 14 10.85 PIK3AP1 0 genome.wustl.edu 37 10 98386535 98386535 + Silent SNP T T A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 10 98386535 98386535 T A SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known silent c.1599 p.P533 0.425 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 tier1 - - 76 0 0.00 68 7 9.33 56 0 0.00 48 9 15.79 USP6 0 genome.wustl.edu 37 17 5058807 5058807 + Missense_Mutation SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 17 5058807 5058807 C T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.2734 p.R912W 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 rs148034086 - 119 0 0.00 90 12 11.76 39 0 0.00 52 10 16.13 MAATS1 0 genome.wustl.edu 37 3 119462961 119462961 + Missense_Mutation SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 3 119462961 119462961 G A SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.1820 p.R607Q 1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 tier1 - - 36 0 0.00 20 13 39.39 17 0 0.00 28 9 24.32 JARID2 0 genome.wustl.edu 37 6 15497191 15497191 + Missense_Mutation SNP G G T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 6 15497191 15497191 G T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1735 p.A579S 1.000 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_ARID/BRIGHT_D-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_D-bd,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_D-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 105 1 0.94 48 8 14.29 35 0 0.00 56 10 15.15 CLTCL1 0 genome.wustl.edu 37 22 19208953 19208953 + Missense_Mutation SNP G G C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 22 19208953 19208953 G C SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.2743 p.H915D 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 tier1 - - 50 0 0.00 42 5 10.64 26 0 0.00 57 7 10.94 MC3R 0 genome.wustl.edu 37 20 54824448 54824448 + Silent SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 20 54824448 54824448 G A SNP MC3R ENST00000243911 human ensembl 74_37 +1 known silent c.549 p.S183 0.312 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 tier1 - - 27 0 0.00 31 7 18.42 50 0 0.00 62 15 19.48 OR5F1 0 genome.wustl.edu 37 11 55762040 55762040 + Missense_Mutation SNP A A G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 11 55762040 55762040 A G SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known missense c.62 p.L21P 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 tier1 - - 58 0 0.00 45 7 13.46 35 0 0.00 38 11 22.45 OR2G3 0 genome.wustl.edu 37 1 247769075 247769075 + Missense_Mutation SNP T T C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 1 247769075 247769075 T C SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.188 p.L63P 0.968 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 OR2G3 HGNC ENSG00000177476 tier1 - - 57 0 0.00 45 7 13.46 84 0 0.00 100 12 10.62 FCRL4 0 genome.wustl.edu 37 1 157550228 157550228 + R SNP T T C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 1 157550228 157550228 T C SNP FCRL4 ENST00000479869 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 35 0 0.00 45 5 10.00 106 0 0.00 121 12 9.02 HECTD4 0 genome.wustl.edu 37 12 112638508 112638508 + Missense_Mutation SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 12 112638508 112638508 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.7985 p.A2662V 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 122 0 0.00 82 13 13.68 120 0 0.00 174 18 9.38 DNMT1 0 genome.wustl.edu 37 19 10251834 10251834 + Missense_Mutation SNP T T A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 19 10251834 10251834 T A SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.3341 p.D1114V 1.000 pirsf_D_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_D_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 tier1 - - 45 0 0.00 43 18 29.51 113 0 0.00 203 17 7.73 TBC1D9 0 genome.wustl.edu 37 4 141548601 141548601 + Missense_Mutation SNP T T C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 4 141548601 141548601 T C SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.2893 p.T965A 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 tier1 - - 61 0 0.00 51 5 8.93 85 0 0.00 94 10 9.62 IL12RB1 0 genome.wustl.edu 37 19 18186635 18186635 + Silent SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 19 18186635 18186635 G A SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known silent c.624 p.F208 0.247 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 tier1 - - 106 0 0.00 97 14 12.61 41 0 0.00 42 4 8.70 LPO 0 genome.wustl.edu 37 17 56342328 56342328 + Silent SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 17 56342328 56342328 C T SNP LPO ENST00000262290 human ensembl 74_37 +1 known silent c.1512 p.V504 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 tier1 - - 78 0 0.00 78 8 9.30 83 0 0.00 109 12 9.84 ZNF280D 0 genome.wustl.edu 37 15 56999299 56999299 + Silent SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 15 56999299 56999299 G A SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known silent c.9 p.D3 0.987 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 tier1 - - 109 0 0.00 91 16 14.95 99 0 0.00 141 15 9.62 SLC12A4 0 genome.wustl.edu 37 16 67986113 67986113 + Missense_Mutation SNP C C G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 16 67986113 67986113 C G SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.897 p.K299N 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 tier1 - - 53 0 0.00 36 6 14.29 92 0 0.00 102 11 9.73 KIF6 0 genome.wustl.edu 37 6 39328280 39328280 + Missense_Mutation SNP T T G TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 6 39328280 39328280 T G SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.1973 p.K658T 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 55 0 0.00 30 4 11.76 77 0 0.00 94 9 8.74 CFTR 0 genome.wustl.edu 37 7 117246748 117246748 + Missense_Mutation SNP T T A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 7 117246748 117246748 T A SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.2929 p.S977T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 66 0 0.00 43 6 12.24 90 1 1.10 119 10 7.75 PEG3 0 genome.wustl.edu 37 19 57335692 57335692 + Missense_Mutation SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 19 57335692 57335692 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.332 p.P111L 0.369 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 70 0 0.00 60 7 10.45 96 0 0.00 133 7 5.00 RECQL 0 genome.wustl.edu 37 12 21644546 21644547 + Frame_Shift_Ins INS - - T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 12 21644546 21644547 - T INS RECQL ENST00000421138 human ensembl 74_37 -1 known frame_shift_ins c.121_120 p.V40fs 0.028:0.001 NULL pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_D_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 tier1 33 0 0.00 38 4 9.52 92 1 1.08 93 8 7.92 MT-CO1 0 genome.wustl.edu 37 MT 7240 7240 + Missense_Mutation SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 MT 7240 7240 C T SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1337 p.A446V NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 79 0 0.00 18 2 10.00 5 0 0.00 2 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 2138 2138 + R SNP T T C TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 MT 2138 2138 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 72 0 0.00 10 2 16.67 8 0 0.00 1 0 0.00 COL8A2 0 genome.wustl.edu 37 1 36563894 36563920 + In_Frame_Del DEL CCTGAGGGACCCCTCAGGCCAGGCTGC CCTGAGGGACCCCTCAGGCCAGGCTGC - TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 CCTGAGGGACCCCTCAGGCCAGGCTGC CCTGAGGGACCCCTCAGGCCAGGCTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 1 36563894 36563920 CCTGAGGGACCCCTCAGGCCAGGCTGC - DEL COL8A2 ENST00000303143 human ensembl 74_37 -1 known in_frame_del c.1388_1362 p.QPGLRGPSG455in_frame_del 1.000:1.000:0.941:1.000:1.000:0.996:1.000:1.000:0.958:1.000:1.000:0.986:1.000:0.996:0.997:0.999:0.990:0.626:1.000:1.000:0.941:1.000:1.000:1.000:1.000:1.000:0.998 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 tier1 3 0 0.00 9 0 0.00 3 0 0.00 9 0 0.00 ENSG00000214614 0 genome.wustl.edu 37 16 32896547 32896547 + R SNP G G T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 16 32896547 32896547 G T SNP ENSG00000214614 ENST00000566260 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-989E6.3 Clone_based_vega_gene ENSG00000214614 tier1 - - 118 0 0.00 76 7 8.43 0 0 0.00 0 0 0.00 EOMES 0 genome.wustl.edu 37 3 27763427 27763428 + In_Frame_Ins INS - - CGGCGC TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 3 27763427 27763428 - CGGCGC INS EOMES ENST00000449599 human ensembl 74_37 -1 known in_frame_ins c.359_358 p.120in_frame_insGA 0.116:0.075 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 KLHDC7B 0 genome.wustl.edu 37 22 50988102 50988102 + Missense_Mutation SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 22 50988102 50988102 G A SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.1507 p.G503S 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 tier1 - - 91 0 0.00 42 13 23.64 3 0 0.00 6 1 14.29 LOC101927060 0 genome.wustl.edu 37 17 45177320 45177321 + R INS - - CGGCCC TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 17 45177320 45177321 - CGGCCC INS LOC101927060 ENST00000571665 human ensembl 74_37 -1 known rna NULL NULL 0.380:0.408 - - - no_errors RP11-156P1.3 Clone_based_vega_gene ENSG00000262879 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 GCC1 0 genome.wustl.edu 37 7 127231635 127231636 + R INS - - T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc 795d6ea6-3fdc-4d98-be37-b1e1eabc1a64 7 127231635 127231636 - T INS GCC1 ENST00000473728 human ensembl 74_37 -1 known rna NULL NULL 0.929:0.928 - - - no_errors GCC1 HGNC ENSG00000179562 tier1 30 0 0.00 35 4 10.26 35 0 0.00 49 2 3.92