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 VMO1 0 genome.wustl.edu 37 17 4688713 4688713 + Missense_Mutation SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 17 4688713 4688713 C T SNP VMO1 ENST00000328739 human ensembl 74_37 -1 known missense c.553 p.G185S 0.044 pfam_VOMI,superfamily_VOMI pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC ENSG00000182853 tier1 - - 132 0 0.00 51 15 22.73 76 0 0.00 18 8 30.77 ZNF804B 0 genome.wustl.edu 37 7 88965547 88965547 + Missense_Mutation SNP G G T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 7 88965547 88965547 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3251 p.G1084V 0.865 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 9 0 0.00 31 14 31.11 30 0 0.00 72 25 25.51 MOGAT3 0 genome.wustl.edu 37 7 100841961 100841961 + Missense_Mutation SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 7 100841961 100841961 C T SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known missense c.439 p.V147M 0.000 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 tier1 - - 162 0 0.00 63 15 19.23 33 0 0.00 29 10 25.64 MPEG1 0 genome.wustl.edu 37 11 58979797 58979797 + Missense_Mutation SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 11 58979797 58979797 C T SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.542 p.R181H 0.068 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 tier1 - - 34 0 0.00 21 5 19.23 104 0 0.00 64 19 22.89 SULF1 0 genome.wustl.edu 37 8 70476322 70476322 + Nonsense_Mutation SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 8 70476322 70476322 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known nonsense c.112 p.R38* 1.000 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 71 0 0.00 63 41 39.42 126 0 0.00 74 51 40.80 MYCT1 0 genome.wustl.edu 37 6 153019226 153019226 + Missense_Mutation SNP C C G TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 6 153019226 153019226 C G SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.189 p.N63K 1.000 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 tier1 - - 56 0 0.00 31 24 43.64 39 0 0.00 25 23 47.92 TLR1 0 genome.wustl.edu 37 4 38802484 38802484 + R SNP G G C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 4 38802484 38802484 G C SNP TLR1 ENST00000505744 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TLR1 HGNC ENSG00000174125 tier1 - - 63 0 0.00 76 36 32.14 103 0 0.00 79 33 29.46 YARS 0 genome.wustl.edu 37 1 33282793 33282793 + Missense_Mutation SNP A A C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 1 33282793 33282793 A C SNP YARS ENST00000373477 human ensembl 74_37 -1 known missense c.53 p.L18R 1.000 tigrfam_Tyr-tR-ligase pfam_aa-tR-synth_Ic,pfam_tR-bd_dom,superfamily_-bd_OB-fold,prints_Tyr-tR-ligase,pfscan_tR-bd_dom,tigrfam_Tyr-tR-ligase - no_errors YARS HGNC ENSG00000134684 tier1 - - 265 0 0.00 112 29 20.57 150 0 0.00 54 9 14.29 ENSG00000257433 0 genome.wustl.edu 37 12 48111281 48111281 + R SNP T T C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 12 48111281 48111281 T C SNP ENSG00000257433 ENST00000547799 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP1-197B17.3 Clone_based_vega_gene ENSG00000257433 tier1 - - 35 0 0.00 33 6 15.38 143 0 0.00 70 19 21.11 ARAP2 0 genome.wustl.edu 37 4 36149219 36149219 + Missense_Mutation SNP C C A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 4 36149219 36149219 C A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.3150 p.M1050I 0.931 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 27 0 0.00 46 24 34.29 20 0 0.00 57 28 32.94 OR13C4 0 genome.wustl.edu 37 9 107288554 107288554 + Silent SNP T T G TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 9 107288554 107288554 T G SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known silent c.937 p.R313 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 tier1 - - 47 0 0.00 70 22 23.91 25 0 0.00 45 31 40.26 RBBP7 0 genome.wustl.edu 37 X 16875809 16875809 + Missense_Mutation SNP C C A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 X 16875809 16875809 C A SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known missense c.505 p.D169Y 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 tier1 - - 62 0 0.00 40 60 60.00 68 0 0.00 28 45 61.64 MESDC2 0 genome.wustl.edu 37 15 81281996 81281996 + Missense_Mutation SNP G G A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 15 81281996 81281996 G A SNP MESDC2 ENST00000261758 human ensembl 74_37 -1 known missense c.137 p.P46L 0.002 NULL pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 tier1 - - 160 0 0.00 58 28 32.56 87 0 0.00 29 7 19.44 USH2A 0 genome.wustl.edu 37 1 216246286 216246286 + Silent SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 1 216246286 216246286 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.5802 p.S1934 0.007 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 rs149776188 GMAF=0.0005 22 0 0.00 74 12 13.95 19 0 0.00 60 11 15.49 OR13C4 0 genome.wustl.edu 37 9 107288553 107288553 + Missense_Mutation SNP C C G TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 9 107288553 107288553 C G SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.938 p.R313T 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 tier1 - - 49 0 0.00 70 22 23.91 25 0 0.00 46 31 40.26 ZNF804B 0 genome.wustl.edu 37 7 88965546 88965546 + Missense_Mutation SNP G G C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 7 88965546 88965546 G C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3250 p.G1084R 0.912 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 9 0 0.00 30 14 31.82 30 0 0.00 73 25 25.51 UNKL 0 genome.wustl.edu 37 16 1444179 1444179 + Missense_Mutation SNP G G C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 16 1444179 1444179 G C SNP UNKL ENST00000397462 human ensembl 74_37 -1 known missense c.1451 p.T484S 0.978 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 tier1 - - 150 0 0.00 115 25 17.86 201 0 0.00 94 16 14.55 TMEM139 0 genome.wustl.edu 37 7 142983670 142983670 + Silent SNP G G C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 7 142983670 142983670 G C SNP TMEM139 ENST00000359333 human ensembl 74_37 +1 known silent c.399 p.G133 0.000 NULL NULL - no_errors TMEM139 HGNC ENSG00000178826 tier1 - - 115 0 0.00 82 15 15.46 149 0 0.00 88 10 10.10 ATRX 0 genome.wustl.edu 37 X 76890128 76890128 + Missense_Mutation SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 X 76890128 76890128 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.4766 p.G1589E 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 119 0 0.00 51 41 44.57 113 0 0.00 34 42 55.26 CCDC168 0 genome.wustl.edu 37 13 103383736 103383736 + Silent SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 13 103383736 103383736 C T SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known silent c.5424 p.R1808 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 25 0 0.00 36 33 47.14 16 0 0.00 24 34 58.62 PRIMPOL 0 genome.wustl.edu 37 4 185599415 185599415 + Missense_Mutation SNP C C G TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 4 185599415 185599415 C G SNP PRIMPOL ENST00000314970 human ensembl 74_37 +1 known missense c.874 p.L292V 0.302 pfam_D_primase_S pfam_D_primase_UL52/UL70_Herpvir,pfam_D_primase_S - no_errors PRIMPOL HGNC ENSG00000164306 tier1 - - 107 1 0.91 86 49 36.30 67 0 0.00 62 28 30.77 RSL24D1 0 genome.wustl.edu 37 15 55483213 55483213 + Silent SNP A A G TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 15 55483213 55483213 A G SNP RSL24D1 ENST00000260443 human ensembl 74_37 -1 known silent c.228 p.N76 1.000 NULL pfam_Ribosomal_L24e_rel,smart_TRASH_dom - no_errors RSL24D1 HGNC ENSG00000137876 tier1 - - 52 0 0.00 38 13 25.49 26 0 0.00 30 16 34.78 NPAP1 0 genome.wustl.edu 37 15 24921704 24921704 + Silent SNP G G A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 15 24921704 24921704 G A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.690 p.A230 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 rs146878373 - 95 0 0.00 67 9 11.84 74 0 0.00 31 10 24.39 ALS2 0 genome.wustl.edu 37 2 202589136 202589136 + Missense_Mutation SNP G G A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 2 202589136 202589136 G A SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.3394 p.R1132C 1.000 pfam_MORN,smart_MORN pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 tier1 rs149670991 GMAF=0.0005 94 0 0.00 51 32 38.55 125 0 0.00 41 28 40.00 CPZ 0 genome.wustl.edu 37 4 8621215 8621215 + Missense_Mutation SNP G G C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 4 8621215 8621215 G C SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.1830 p.L610F 0.000 NULL pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 tier1 - - 43 0 0.00 36 7 16.28 37 0 0.00 21 7 25.00 AMER3 0 genome.wustl.edu 37 2 131520382 131520382 + Missense_Mutation SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 2 131520382 131520382 C T SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.737 p.S246L 0.999 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 tier1 - - 94 0 0.00 14 12 46.15 75 0 0.00 12 9 42.86 CNOT4 0 genome.wustl.edu 37 7 135047671 135047671 + Missense_Mutation SNP T T A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 7 135047671 135047671 T A SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known missense c.2108 p.D703V 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 tier1 - - 50 0 0.00 49 7 12.28 75 0 0.00 42 7 14.00 GUCY2D 0 genome.wustl.edu 37 17 7918813 7918813 + Silent SNP G G T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 17 7918813 7918813 G T SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known silent c.2937 p.L979 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 tier1 - - 97 0 0.00 33 7 17.50 83 0 0.00 20 11 35.48 TP53 0 genome.wustl.edu 37 17 7578464 7578464 + Missense_Mutation SNP G G C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 17 7578464 7578464 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.466 p.R156G 0.010 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 42 0 0.00 10 9 47.37 137 0 0.00 21 23 52.27 ZNF658 0 genome.wustl.edu 37 9 40772812 40772812 + Silent SNP T T C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 9 40772812 40772812 T C SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known silent c.2463 p.T821 0.999 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 ZNF658 HGNC ENSG00000196409 tier1 - - 109 1 0.91 144 104 41.94 24 0 0.00 32 20 37.74 VAC14 0 genome.wustl.edu 37 16 70820149 70820149 + Missense_Mutation SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 16 70820149 70820149 C T SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known missense c.224 p.G75D 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 tier1 - - 74 0 0.00 58 12 17.14 75 0 0.00 28 8 22.22 C2orf78 0 genome.wustl.edu 37 2 74043560 74043560 + Missense_Mutation SNP G G A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 2 74043560 74043560 G A SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.2210 p.R737Q 0.022 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 tier1 - - 34 0 0.00 21 28 57.14 86 0 0.00 33 49 59.76 SLIT2 0 genome.wustl.edu 37 4 20597435 20597435 + Missense_Mutation SNP T T C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 4 20597435 20597435 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3298 p.C1100R 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 70 0 0.00 81 38 31.93 70 0 0.00 68 13 16.05 CEL 0 genome.wustl.edu 37 9 135946410 135946410 + Missense_Mutation SNP C C G TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 9 135946410 135946410 C G SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1530 p.H510Q 0.007 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 - - 191 0 0.00 100 29 22.48 126 0 0.00 64 10 13.51 NLGN4X 0 genome.wustl.edu 37 X 6069226 6069226 + Silent SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 X 6069226 6069226 C T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.282 p.P94 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 74 0 0.00 23 29 54.72 13 0 0.00 5 6 54.55 PCDHB3 0 genome.wustl.edu 37 5 140481682 140481682 + Missense_Mutation SNP C C G TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 5 140481682 140481682 C G SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1449 p.N483K 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 PCDHB3 HGNC ENSG00000113205 tier1 - - 356 0 0.00 145 42 22.46 5 0 0.00 4 2 33.33 PRKRIR 0 genome.wustl.edu 37 11 76062812 76062812 + Missense_Mutation SNP T T C TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 11 76062812 76062812 T C SNP PRKRIR ENST00000260045 human ensembl 74_37 -1 known missense c.1382 p.N461S 0.933 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 tier1 - - 44 0 0.00 26 34 56.67 9 0 0.00 9 4 30.77 SLC12A3 0 genome.wustl.edu 37 16 56921864 56921864 + Missense_Mutation SNP A A G TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 16 56921864 56921864 A G SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.2206 p.N736D 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 tier1 - - 139 0 0.00 85 13 13.27 141 0 0.00 81 5 5.81 HCCS 0 genome.wustl.edu 37 X 11136723 11136723 + Missense_Mutation SNP G G T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 X 11136723 11136723 G T SNP HCCS ENST00000321143 human ensembl 74_37 +1 known missense c.504 p.W168C 1.000 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 tier1 - - 92 0 0.00 84 19 18.45 60 0 0.00 72 4 5.26 RGL4 0 genome.wustl.edu 37 22 24036039 24036039 + Missense_Mutation SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 22 24036039 24036039 C T SNP RGL4 ENST00000290691 human ensembl 74_37 +1 known missense c.790 p.R264C 0.917 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RGL4 HGNC ENSG00000159496 tier1 - - 53 0 0.00 45 4 8.16 152 0 0.00 67 7 9.46 ACHE 0 genome.wustl.edu 37 7 100491025 100491025 + Missense_Mutation SNP G G A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 7 100491025 100491025 G A SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.829 p.R277C 0.986 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 tier1 - - 51 0 0.00 27 5 15.62 12 0 0.00 6 0 0.00 DNMT3A 0 genome.wustl.edu 37 2 25536821 25536822 + Frame_Shift_Ins INS - - A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 2 25536821 25536822 - A INS DNMT3A ENST00000264709 human ensembl 74_37 -1 known frame_shift_ins c.33_32 p.T12fs 1.000:1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 177 0 0.00 64 13 16.88 7 0 0.00 3 0 0.00 DNMT3A 0 genome.wustl.edu 37 2 25536823 25536824 + Frame_Shift_Del DEL CC CC - TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 2 25536823 25536824 CC - DEL DNMT3A ENST00000264709 human ensembl 74_37 -1 known frame_shift_del c.31_30 p.D11fs 1.000:1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 172 0 0.00 63 26 29.21 7 0 0.00 3 0 0.00 FBLN1 0 genome.wustl.edu 37 22 45921483 45921483 + Silent SNP C C T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 22 45921483 45921483 C T SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known silent c.246 p.I82 1.000 smart_Anaphylatoxin/fibulin,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 tier1 - - 67 0 0.00 23 4 14.81 5 0 0.00 2 0 0.00 DNM1P46 0 genome.wustl.edu 37 15 100340186 100340186 + R SNP C C A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 15 100340186 100340186 C A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 rs200975818 - 46 0 0.00 50 5 9.09 0 0 0.00 0 0 0.00 PRKG1 0 genome.wustl.edu 37 10 52751154 52751154 + Nonsense_Mutation SNP G G T TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 10 52751154 52751154 G T SNP PRKG1 ENST00000401604 human ensembl 74_37 +1 known nonsense c.16 p.E6* 1.000 pirsf_cGMP-dependent_protein_kinase pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 316 0 0.00 128 38 22.89 99 0 0.00 37 3 7.50 SVIL 0 genome.wustl.edu 37 10 29821886 29821886 + Frame_Shift_Del DEL A A - TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fe4e8f7-b729-4f00-9d09-a95a23e97fe3 385e008c-dae7-4b29-9287-16863463e7c6 10 29821886 29821886 A - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.1410 p.S472fs 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 tier1 32 0 0.00 41 6 12.77 110 0 0.00 52 2 3.70