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 UHRF1 0 genome.wustl.edu 37 19 4932853 4932853 + R SNP A A C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 19 4932853 4932853 A C SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC ENSG00000034063 tier1 - - 83 0 0.00 64 167 72.29 67 0 0.00 51 90 63.83 HERC1 0 genome.wustl.edu 37 15 63952050 63952050 + Missense_Mutation SNP T T A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 15 63952050 63952050 T A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.9309 p.L3103F 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 76 0 0.00 46 15 24.59 108 0 0.00 64 20 23.81 PDZD2 0 genome.wustl.edu 37 5 32088673 32088673 + Missense_Mutation SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 5 32088673 32088673 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.5119 p.E1707K 0.034 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 33 0 0.00 55 47 46.08 109 1 0.91 130 167 56.04 PROCA1 0 genome.wustl.edu 37 17 27031194 27031194 + Missense_Mutation SNP G G C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 17 27031194 27031194 G C SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.399 p.I133M 0.996 superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 39 0 0.00 24 4 14.29 88 0 0.00 50 10 16.39 RTP3 0 genome.wustl.edu 37 3 46539582 46539582 + Silent SNP A A G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 3 46539582 46539582 A G SNP RTP3 ENST00000296142 human ensembl 74_37 +1 known silent c.30 p.Q10 0.000 NULL NULL - no_errors RTP3 HGNC ENSG00000163825 tier1 - - 17 0 0.00 11 4 26.67 134 0 0.00 71 17 19.10 SCN9A 0 genome.wustl.edu 37 2 167136889 167136889 + Missense_Mutation SNP T T A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 2 167136889 167136889 T A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2324 p.N775I 0.718 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 113 0 0.00 64 12 15.79 115 0 0.00 85 21 19.81 IF17 0 genome.wustl.edu 37 9 21227659 21227659 + Missense_Mutation SNP T T C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 9 21227659 21227659 T C SNP IF17 ENST00000413767 human ensembl 74_37 -1 known missense c.514 p.M172V 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IF17 HGNC ENSG00000234829 tier1 - - 102 0 0.00 50 19 27.54 30 0 0.00 25 15 37.50 TMEM182 0 genome.wustl.edu 37 2 103414356 103414356 + Silent SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 2 103414356 103414356 G A SNP TMEM182 ENST00000412401 human ensembl 74_37 +1 known silent c.366 p.L122 0.998 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 tier1 - - 48 0 0.00 38 15 28.30 92 0 0.00 62 25 28.74 IFNLR1 0 genome.wustl.edu 37 1 24484158 24484158 + Missense_Mutation SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 24484158 24484158 G A SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known missense c.1025 p.P342L 0.914 NULL superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 tier1 - - 65 0 0.00 54 17 23.94 107 0 0.00 49 28 36.36 METTL21B 0 genome.wustl.edu 37 12 58168434 58168434 + Missense_Mutation SNP G G T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 12 58168434 58168434 G T SNP METTL21B ENST00000333012 human ensembl 74_37 +1 known missense c.312 p.E104D 0.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 tier1 - - 38 0 0.00 462 145 23.89 102 0 0.00 919 204 18.15 IL7R 0 genome.wustl.edu 37 5 35873642 35873642 + Missense_Mutation SNP A A G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 5 35873642 35873642 A G SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.598 p.M200V 0.804 pfam_Fibronectin_type3,superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 tier1 - - 34 0 0.00 23 10 30.30 57 0 0.00 30 15 33.33 BNC1 0 genome.wustl.edu 37 15 83932020 83932020 + Silent SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 15 83932020 83932020 C T SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known silent c.1983 p.G661 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 48 0 0.00 32 17 34.00 91 0 0.00 74 25 25.25 LOC100286922 0 genome.wustl.edu 37 2 234663718 234663718 + R SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 2 234663718 234663718 G A SNP LOC100286922 ENST00000389816 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 tier1 - - 88 0 0.00 39 12 23.53 53 0 0.00 44 14 24.14 USP30 0 genome.wustl.edu 37 12 109511301 109511301 + Silent SNP C C G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 12 109511301 109511301 C G SNP USP30 ENST00000257548 human ensembl 74_37 +1 known silent c.684 p.L228 0.899 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 tier1 - - 29 0 0.00 21 8 27.59 133 0 0.00 58 39 40.21 CD84 0 genome.wustl.edu 37 1 160523553 160523553 + R SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 160523553 160523553 G A SNP CD84 ENST00000368047 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD84 HGNC ENSG00000066294 tier1 - - 19 0 0.00 16 4 20.00 94 0 0.00 53 17 24.29 METTL21B 0 genome.wustl.edu 37 12 58168459 58168459 + Missense_Mutation SNP G G C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 12 58168459 58168459 G C SNP METTL21B ENST00000333012 human ensembl 74_37 +1 known missense c.337 p.E113Q 0.002 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 tier1 - - 38 0 0.00 517 177 25.47 99 0 0.00 901 202 18.28 LRRN4 0 genome.wustl.edu 37 20 6022395 6022395 + Missense_Mutation SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 20 6022395 6022395 G A SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.1496 p.P499L 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 tier1 - - 61 0 0.00 25 18 41.86 57 0 0.00 43 10 18.87 FCRLA 0 genome.wustl.edu 37 1 161680486 161680486 + R SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 161680486 161680486 C T SNP FCRLA ENST00000470841 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors FCRLA HGNC ENSG00000132185 tier1 - - 47 0 0.00 50 17 25.37 98 0 0.00 55 13 19.12 TUSC3 0 genome.wustl.edu 37 8 15508302 15508302 + Silent SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 8 15508302 15508302 G A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known silent c.405 p.E135 0.997 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 tier1 - - 152 0 0.00 66 17 20.24 107 0 0.00 51 28 35.44 OR4D10 0 genome.wustl.edu 37 11 59245419 59245419 + Missense_Mutation SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 11 59245419 59245419 G A SNP OR4D10 ENST00000530162 human ensembl 74_37 +1 known missense c.517 p.V173I 0.169 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 tier1 - - 73 0 0.00 32 15 31.91 69 0 0.00 41 22 34.92 ITPR2 0 genome.wustl.edu 37 12 26755360 26755360 + Silent SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 12 26755360 26755360 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.3621 p.L1207 1.000 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 21 0 0.00 15 6 28.57 113 0 0.00 86 28 24.14 TDRD12 0 genome.wustl.edu 37 19 33240749 33240749 + Missense_Mutation SNP C C A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 19 33240749 33240749 C A SNP TDRD12 ENST00000444215 human ensembl 74_37 +1 known missense c.556 p.L186I 1.000 NULL pfam_Tudor,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors TDRD12 HGNC ENSG00000173809 tier1 - - 21 0 0.00 22 5 18.52 112 0 0.00 70 21 23.08 MKI67 0 genome.wustl.edu 37 10 129910646 129910646 + Missense_Mutation SNP G G T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 10 129910646 129910646 G T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.1720 p.Q574K 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 38 0 0.00 31 13 28.26 128 0 0.00 99 48 32.65 SLTM 0 genome.wustl.edu 37 15 59192056 59192056 + Missense_Mutation SNP T T C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 15 59192056 59192056 T C SNP SLTM ENST00000380516 human ensembl 74_37 -1 known missense c.670 p.T224A 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 tier1 - - 18 0 0.00 9 6 40.00 62 0 0.00 44 29 39.73 APOB 0 genome.wustl.edu 37 2 21263893 21263893 + Silent SNP T T C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 2 21263893 21263893 T C SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.300 p.K100 0.139 pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 52 0 0.00 24 8 25.00 75 0 0.00 53 21 28.38 SRRT 0 genome.wustl.edu 37 7 100482417 100482417 + Silent SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 7 100482417 100482417 C T SNP SRRT ENST00000388793 human ensembl 74_37 +1 known silent c.999 p.D333 0.989 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 tier1 rs201815722 GMAF=0.0005 65 0 0.00 31 17 35.42 85 0 0.00 37 16 30.19 PDZD2 0 genome.wustl.edu 37 5 32089053 32089053 + Silent SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 5 32089053 32089053 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.5499 p.K1833 0.074 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 31 0 0.00 11 9 42.86 154 0 0.00 155 128 45.23 ZNF610 0 genome.wustl.edu 37 19 52869387 52869387 + Missense_Mutation SNP A A C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 19 52869387 52869387 A C SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.756 p.R252S 0.004 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 ZNF610 HGNC ENSG00000167554 tier1 - - 41 0 0.00 18 8 30.77 77 0 0.00 40 12 23.08 TMTC3 0 genome.wustl.edu 37 12 88582692 88582692 + Missense_Mutation SNP C C G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 12 88582692 88582692 C G SNP TMTC3 ENST00000266712 human ensembl 74_37 +1 known missense c.1505 p.S502C 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 tier1 - - 15 0 0.00 8 106 92.98 66 0 0.00 51 386 88.13 ZNF827 0 genome.wustl.edu 37 4 146700609 146700609 + Missense_Mutation SNP T T C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 4 146700609 146700609 T C SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.2438 p.N813S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 tier1 - - 56 0 0.00 40 8 16.67 121 0 0.00 77 41 34.75 CEP170P1 0 genome.wustl.edu 37 4 119475261 119475261 + R SNP T T C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 4 119475261 119475261 T C SNP CEP170P1 ENST00000412784 human ensembl 74_37 +1 known rna NULL NULL 0.475 - - - no_errors CEP170P1 HGNC ENSG00000154608 tier1 - - 29 0 0.00 16 12 42.86 74 0 0.00 59 19 24.36 PDZD2 0 genome.wustl.edu 37 5 32088856 32088856 + Missense_Mutation SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 5 32088856 32088856 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.5302 p.G1768R 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 92 0 0.00 69 74 51.75 121 0 0.00 152 172 53.09 CXorf40A 0 genome.wustl.edu 37 X 148628297 148628297 + Missense_Mutation SNP T T G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 X 148628297 148628297 T G SNP CXorf40A ENST00000359293 human ensembl 74_37 +1 known missense c.266 p.I89S 0.893 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40A HGNC ENSG00000197620 tier1 - - 76 0 0.00 52 13 20.00 75 0 0.00 30 13 30.23 NFASC 0 genome.wustl.edu 37 1 204945807 204945807 + Missense_Mutation SNP A A C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 204945807 204945807 A C SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.1715 p.K572T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 tier1 - - 64 0 0.00 46 7 13.21 117 0 0.00 79 11 12.22 MYOCD 0 genome.wustl.edu 37 17 12666834 12666834 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 17 12666834 12666834 C T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.2834 p.P945L 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 rs139170912 - 55 0 0.00 20 18 47.37 71 0 0.00 60 19 24.05 EPB41 0 genome.wustl.edu 37 1 29365852 29365852 + Missense_Mutation SNP C C G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 29365852 29365852 C G SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.1550 p.T517S 1.000 pirsf_Band_41_protein,pfam_FERM-adjacent pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 tier1 - - 62 0 0.00 44 6 12.00 83 0 0.00 80 13 13.98 CUL4B 0 genome.wustl.edu 37 X 119672572 119672572 + Missense_Mutation SNP C C A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 X 119672572 119672572 C A SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known missense c.1849 p.V617F 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 tier1 - - 74 0 0.00 52 24 31.58 99 0 0.00 60 17 22.08 HR 0 genome.wustl.edu 37 8 21986391 21986391 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 8 21986391 21986391 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.293 p.R98H 0.988 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 tier1 - - 64 0 0.00 44 9 16.98 57 0 0.00 31 15 31.91 ABCC10 0 genome.wustl.edu 37 6 43403588 43403588 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 6 43403588 43403588 C T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.1708 p.R570W 1.000 superfamily_ABC1_TM_dom 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 - no_errors ABCC10 HGNC ENSG00000124574 tier1 - - 40 0 0.00 22 6 21.43 146 0 0.00 76 35 31.53 SKIL 0 genome.wustl.edu 37 3 170078753 170078753 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 3 170078753 170078753 C T SNP SKIL ENST00000259119 human ensembl 74_37 +1 known missense c.634 p.P212S 1.000 pfam_Transform_Ski,superfamily_D-bd_dom_put pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_D-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 tier1 - - 24 0 0.00 13 6 31.58 81 0 0.00 41 24 36.36 POU2F1 0 genome.wustl.edu 37 1 167381363 167381363 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 167381363 167381363 C T SNP POU2F1 ENST00000367866 human ensembl 74_37 +1 known missense c.1723 p.P575S 0.999 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 tier1 - - 48 0 0.00 103 15 12.71 94 0 0.00 264 51 16.19 RHCG 0 genome.wustl.edu 37 15 90020057 90020057 + Missense_Mutation SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 15 90020057 90020057 G A SNP RHCG ENST00000268122 human ensembl 74_37 -1 known missense c.1240 p.L414F 0.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 tier1 - - 30 0 0.00 30 8 21.05 86 0 0.00 73 22 22.92 SMG7 0 genome.wustl.edu 37 1 183497112 183497112 + Missense_Mutation SNP G G T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 183497112 183497112 G T SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.506 p.S169I 1.000 pfam_EST1 pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 26 0 0.00 19 8 29.63 79 0 0.00 46 15 24.59 METTL21B 0 genome.wustl.edu 37 12 58168428 58168428 + Silent SNP G G T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 12 58168428 58168428 G T SNP METTL21B ENST00000333012 human ensembl 74_37 +1 known silent c.306 p.V102 0.010 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 tier1 - - 37 0 0.00 451 143 24.03 99 0 0.00 895 201 18.31 TFDP3 0 genome.wustl.edu 37 X 132351355 132351355 + Silent SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 X 132351355 132351355 G A SNP TFDP3 ENST00000310125 human ensembl 74_37 -1 known silent c.933 p.A311 0.998 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP3 HGNC ENSG00000183434 tier1 - - 40 0 0.00 32 10 23.81 59 0 0.00 21 11 34.38 TTN 0 genome.wustl.edu 37 2 179476124 179476124 + Missense_Mutation SNP T T A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 2 179476124 179476124 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.43128 p.E14376D 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 - - 23 0 0.00 24 7 22.58 70 0 0.00 37 13 26.00 SI 0 genome.wustl.edu 37 3 164786611 164786611 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 3 164786611 164786611 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.382 p.A128T 0.990 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 63 0 0.00 37 21 36.21 68 0 0.00 56 21 27.27 PRLHR 0 genome.wustl.edu 37 10 120353829 120353829 + Missense_Mutation SNP G G T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 10 120353829 120353829 G T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.928 p.P310T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 tier1 - - 73 0 0.00 42 10 19.23 29 0 0.00 15 6 28.57 MMP3 0 genome.wustl.edu 37 11 102712894 102712894 + Frame_Shift_Del DEL C C - TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 11 102712894 102712894 C - DEL MMP3 ENST00000299855 human ensembl 74_37 -1 known frame_shift_del c.616 p.D206fs 0.219 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 52 0 0.00 34 14 29.17 106 0 0.00 68 20 22.73 ZNRF4 0 genome.wustl.edu 37 19 5456046 5456046 + Missense_Mutation SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 19 5456046 5456046 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.544 p.A182T 0.748 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 tier1 - - 32 0 0.00 32 8 20.00 41 0 0.00 5 3 37.50 SMC4 0 genome.wustl.edu 37 3 160148853 160148853 + Missense_Mutation SNP A A G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 3 160148853 160148853 A G SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.2974 p.N992D 0.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 tier1 - - 49 0 0.00 29 6 17.14 95 0 0.00 75 4 5.06 HIST2H2AB 0 genome.wustl.edu 37 1 149859187 149859187 + Missense_Mutation SNP G G C TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 149859187 149859187 G C SNP HIST2H2AB ENST00000331128 human ensembl 74_37 -1 known missense c.280 p.L94V 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC ENSG00000184270 tier1 - - 54 0 0.00 43 6 12.24 82 0 0.00 66 6 8.22 LYZ 0 genome.wustl.edu 37 12 69744056 69744056 + Missense_Mutation SNP A A G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 12 69744056 69744056 A G SNP LYZ ENST00000548839 human ensembl 74_37 +1 putative missense c.305 p.K102R 1.000 smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys,prints_Glyco_hydro_22 - no_errors LYZ HGNC ENSG00000090382 tier1 - - 29 0 0.00 439 39 8.16 91 0 0.00 1728 165 8.72 CPNE8 0 genome.wustl.edu 37 12 39124125 39124125 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 12 39124125 39124125 C T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.758 p.R253K 1.000 superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 82 0 0.00 67 9 11.84 102 0 0.00 95 10 9.52 GIGYF1 0 genome.wustl.edu 37 7 100279600 100279600 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 7 100279600 100279600 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.2942 p.S981N 0.960 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 tier1 - - 72 0 0.00 42 19 30.65 9 0 0.00 3 0 0.00 KIAA1279 0 genome.wustl.edu 37 10 70748980 70748980 + Missense_Mutation SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 10 70748980 70748980 C T SNP KIAA1279 ENST00000361983 human ensembl 74_37 +1 known missense c.392 p.S131L 0.989 NULL pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 tier1 - - 43 0 0.00 34 4 10.53 18 0 0.00 6 0 0.00 ENSG00000215941 0 genome.wustl.edu 37 3 38948802 38948813 + R DEL TGTGTGTGTGTG TGTGTGTGTGTG - TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 TGTGTGTGTGTG TGTGTGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 3 38948802 38948813 TGTGTGTGTGTG - DEL ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001:0.005:0.007:0.015:0.028:0.021:0.020:0.022:0.022:0.028:0.032 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LOC101927345 0 genome.wustl.edu 37 1 143378289 143378289 + R SNP G G T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 1 143378289 143378289 G T SNP LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 123 0 0.00 75 21 21.88 1 0 0.00 0 0 0.00 MUC4 0 genome.wustl.edu 37 3 195509286 195509286 + Silent SNP G G A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 3 195509286 195509286 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.9165 p.N3055 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 168 0 0.00 110 17 13.39 2 0 0.00 4 0 0.00 PRR21 0 genome.wustl.edu 37 2 240982144 240982144 + Frame_Shift_Del DEL T T - TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 2 240982144 240982144 T - DEL PRR21 ENST00000408934 human ensembl 74_37 -1 known frame_shift_del c.256 p.S86fs 0.000 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 tier1 15 0 0.00 7 3 30.00 0 0 0.00 2 0 0.00 TRAM1 0 genome.wustl.edu 37 8 71520527 71520527 + R SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 8 71520527 71520527 C T SNP TRAM1 ENST00000520700 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors TRAM1 HGNC ENSG00000067167 tier1 - - 11 0 0.00 5 6 54.55 1 0 0.00 1 1 50.00 CFTR 0 genome.wustl.edu 37 7 117188766 117188766 + Silent SNP C C T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 7 117188766 117188766 C T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known silent c.1281 p.S427 0.424 superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,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 - - 105 0 0.00 75 9 10.71 55 0 0.00 38 3 7.32 CEACAM20 0 genome.wustl.edu 37 19 45029180 45029180 + R SNP A A T TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18ec066e-8510-4921-9e35-45d85fb01e38 7f34c3a1-efee-47c6-bd61-502061fec7e3 19 45029180 45029180 A T SNP CEACAM20 ENST00000316962 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CEACAM20 HGNC ENSG00000176395 tier1 - - 67 0 0.00 63 6 8.70 104 0 0.00 105 3 2.78