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 OPHN1 0 genome.wustl.edu 37 X 67283813 67283813 + Missense_Mutation SNP C C A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 X 67283813 67283813 C A SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.2041 p.G681W 0.990 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 tier1 - - 110 0 0.00 44 12 21.43 96 0 0.00 72 16 18.18 NRIP3 0 genome.wustl.edu 37 11 9007284 9007284 + Missense_Mutation SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 11 9007284 9007284 C T SNP NRIP3 ENST00000309166 human ensembl 74_37 -1 known missense c.536 p.R179H 0.998 pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP3 HGNC ENSG00000175352 tier1 - - 67 0 0.00 47 5 9.62 93 0 0.00 82 24 22.64 C7orf25 0 genome.wustl.edu 37 7 42950004 42950004 + Missense_Mutation SNP T T A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 7 42950004 42950004 T A SNP C7orf25 ENST00000431882 human ensembl 74_37 -1 known missense c.670 p.I224F 0.947 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 tier1 - - 44 0 0.00 18 9 33.33 52 0 0.00 51 15 22.73 SULT1B1 0 genome.wustl.edu 37 4 70596224 70596224 + Missense_Mutation SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 4 70596224 70596224 C T SNP SULT1B1 ENST00000310613 human ensembl 74_37 -1 known missense c.773 p.R258H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1B1 HGNC ENSG00000173597 tier1 rs142990488 GMAF=0.0005 47 0 0.00 6 4 40.00 156 0 0.00 100 50 33.33 COL4A6 0 genome.wustl.edu 37 X 107417804 107417804 + Missense_Mutation SNP C C A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 X 107417804 107417804 C A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.3007 p.A1003S 0.010 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 148 0 0.00 30 12 28.57 48 0 0.00 45 14 23.73 GSDMC 0 genome.wustl.edu 37 8 130777930 130777930 + Missense_Mutation SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 8 130777930 130777930 C T SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.514 p.D172N 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 83 0 0.00 18 15 45.45 95 0 0.00 68 34 33.33 PPP2R2C 0 genome.wustl.edu 37 4 6374262 6374262 + Missense_Mutation SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 4 6374262 6374262 C T SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known missense c.613 p.D205N 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 tier1 - - 66 0 0.00 19 12 38.71 41 0 0.00 39 5 11.36 ZNF486 0 genome.wustl.edu 37 19 20296806 20296806 + Silent SNP C C G TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 19 20296806 20296806 C G SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known silent c.168 p.V56 0.087 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF486 HGNC ENSG00000256229 tier1 - - 93 0 0.00 36 7 16.28 12 0 0.00 16 6 27.27 GGTLC2 0 genome.wustl.edu 37 22 22989254 22989254 + Silent SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 22 22989254 22989254 C T SNP GGTLC2 ENST00000448514 human ensembl 74_37 +1 known silent c.207 p.S69 0.996 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC ENSG00000100121 tier1 rs138799771 - 260 1 0.38 178 26 12.68 39 0 0.00 39 10 20.41 IL27 0 genome.wustl.edu 37 16 28513296 28513296 + Splice_Site SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 16 28513296 28513296 C T SNP IL27 ENST00000356897 human ensembl 74_37 -1 known splice_site c.462+1 e4+1 0.993 - - - no_errors IL27 HGNC ENSG00000197272 tier1 - - 64 0 0.00 31 6 16.22 48 0 0.00 34 20 37.04 TYR 0 genome.wustl.edu 37 11 88911205 88911205 + Missense_Mutation SNP G G C TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 11 88911205 88911205 G C SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.84 p.K28N 0.999 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 tier1 - - 45 0 0.00 14 6 30.00 82 0 0.00 68 27 28.42 ABLIM2 0 genome.wustl.edu 37 4 8079400 8079400 + Silent SNP G G A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 4 8079400 8079400 G A SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known silent c.630 p.I210 0.957 pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 tier1 - - 162 0 0.00 54 9 14.29 38 0 0.00 33 5 13.16 DCAF4L2 0 genome.wustl.edu 37 8 88885852 88885852 + Silent SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 8 88885852 88885852 C T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known silent c.348 p.P116 0.946 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 tier1 - - 60 0 0.00 29 4 12.12 117 1 0.85 100 16 13.79 ARG2 0 genome.wustl.edu 37 14 68117433 68117433 + Silent SNP G G A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 14 68117433 68117433 G A SNP ARG2 ENST00000261783 human ensembl 74_37 +1 known silent c.861 p.G287 0.687 pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 tier1 - - 27 0 0.00 9 7 43.75 103 0 0.00 84 26 23.64 USH2A 0 genome.wustl.edu 37 1 216246595 216246595 + Missense_Mutation SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 1 216246595 216246595 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5620 p.V1874I 1.000 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Laminin_G 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 - - 44 0 0.00 11 4 26.67 87 0 0.00 76 29 27.62 FBN3 0 genome.wustl.edu 37 19 8193949 8193949 + Silent SNP G G A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 19 8193949 8193949 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.2259 p.P753 0.646 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 rs60853419 GMAF=0.0005 79 0 0.00 33 20 36.36 61 1 1.61 43 20 31.25 DIP2B 0 genome.wustl.edu 37 12 51112505 51112505 + Silent SNP T T G TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 12 51112505 51112505 T G SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known silent c.2865 p.A955 0.986 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 76 0 0.00 28 7 20.00 104 0 0.00 77 32 29.36 TSPAN19 0 genome.wustl.edu 37 12 85421771 85421771 + Missense_Mutation SNP G G A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 12 85421771 85421771 G A SNP TSPAN19 ENST00000532498 human ensembl 74_37 -1 known missense c.170 p.S57F 0.013 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN19 HGNC ENSG00000231738 tier1 - - 91 0 0.00 165 180 52.17 97 0 0.00 363 409 52.91 NRXN3 0 genome.wustl.edu 37 14 80328258 80328258 + Missense_Mutation SNP A A G TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 14 80328258 80328258 A G SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known missense c.3137 p.K1046R 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 rs200832810 GMAF=0 17 0 0.00 6 4 36.36 84 0 0.00 67 20 22.99 ZNF486 0 genome.wustl.edu 37 19 20296831 20296831 + Silent SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 19 20296831 20296831 C T SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known silent c.193 p.L65 0.043 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF486 HGNC ENSG00000256229 tier1 - - 94 0 0.00 47 10 17.54 13 0 0.00 15 3 16.67 KIAA2018 0 genome.wustl.edu 37 3 113377201 113377201 + Missense_Mutation SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 3 113377201 113377201 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.3328 p.E1110K 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 34 0 0.00 7 5 41.67 56 0 0.00 32 16 33.33 MSH3 0 genome.wustl.edu 37 5 79968152 79968152 + Silent SNP A A T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 5 79968152 79968152 A T SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known silent c.882 p.V294 0.004 pfam_D_mismatch_repair_MutS-lik_N,superfamily_D_mismatch_repair_MutS_N pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 - - 87 0 0.00 21 10 32.26 108 0 0.00 58 32 35.56 ZNF486 0 genome.wustl.edu 37 19 20296824 20296824 + Silent SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 19 20296824 20296824 C T SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known silent c.186 p.I62 0.080 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF486 HGNC ENSG00000256229 tier1 - - 85 0 0.00 43 9 17.31 14 0 0.00 15 6 28.57 ARFGAP2 0 genome.wustl.edu 37 11 47193866 47193866 + Missense_Mutation SNP A A G TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 11 47193866 47193866 A G SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.638 p.I213T 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 tier1 - - 94 0 0.00 22 8 26.67 148 0 0.00 98 35 26.32 SMR3B 0 genome.wustl.edu 37 4 71255546 71255546 + Missense_Mutation SNP C C A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 4 71255546 71255546 C A SNP SMR3B ENST00000304915 human ensembl 74_37 +1 known missense c.221 p.P74Q 0.047 NULL NULL - no_errors SMR3B HGNC ENSG00000171201 tier1 - - 160 0 0.00 34 20 37.04 93 0 0.00 65 25 27.78 ZNF347 0 genome.wustl.edu 37 19 53643945 53643946 + Frame_Shift_Ins INS - - T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 19 53643945 53643946 - T INS ZNF347 ENST00000452676 human ensembl 74_37 -1 known frame_shift_ins c.2139_2138 p.N713fs 0.000:0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 tier1 77 0 0.00 50 5 9.09 84 0 0.00 108 13 10.74 FAM86B3P 0 genome.wustl.edu 37 8 8098246 8098246 + R SNP G G T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 8 8098246 8098246 G T SNP FAM86B3P ENST00000310542 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors FAM86B3P HGNC ENSG00000173295 tier1 - - 76 0 0.00 29 8 21.62 6 0 0.00 5 5 50.00 LOC101930284 0 genome.wustl.edu 37 1 143230391 143230391 + R SNP A A T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 1 143230391 143230391 A T SNP LOC101930284 ENST00000422716 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors RP11-782C8.5 Clone_based_vega_gene ENSG00000225278 tier1 - - 35 0 0.00 10 2 16.67 66 1 1.49 70 5 6.67 DTX3 0 genome.wustl.edu 37 12 58002927 58002937 + In_Frame_Del DEL GATGACTGAAG GATGACTGAAG - TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 GATGACTGAAG GATGACTGAAG GATGACTGAAG - GATGACTGAAG GATGACTGAAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 12 58002927 58002937 GATGACTGAAG - DEL DTX3 ENST00000551632 human ensembl 74_37 +1 known in_frame_del c.1045_1053 p.DD*349in_frame_del 0.987:0.979:0.973:1.000:1.000:1.000:1.000:1.000:0.982 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 tier1 81 0 0.00 1036 30 2.81 81 0 0.00 1036 30 2.81 CDH18 0 genome.wustl.edu 37 5 19473754 19473754 + Missense_Mutation SNP G G A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 5 19473754 19473754 G A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1954 p.R652W 0.827 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 69 0 0.00 20 9 31.03 105 2 1.87 73 18 19.78 ELANE 0 genome.wustl.edu 37 19 855742 855742 + Frame_Shift_Del DEL G G - TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 19 855742 855742 G - DEL ELANE ENST00000263621 human ensembl 74_37 +1 known frame_shift_del c.545 p.R182fs 0.109 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 tier1 64 0 0.00 19 2 9.52 9 0 0.00 6 0 0.00 PAK4 0 genome.wustl.edu 37 19 39663769 39663769 + Missense_Mutation SNP C C T TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 19 39663769 39663769 C T SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known missense c.416 p.A139V 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 tier1 - - 42 0 0.00 10 3 23.08 8 0 0.00 4 0 0.00 PCDHA5 0 genome.wustl.edu 37 5 140202596 140202596 + Silent SNP G G A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 5 140202596 140202596 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1236 p.L412 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 165 1 0.60 33 18 35.29 5 0 0.00 5 1 16.67 TERF1 0 genome.wustl.edu 37 8 73921284 73921286 + In_Frame_Del DEL GAG GAG - TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 8 73921284 73921286 GAG - DEL TERF1 ENST00000276603 human ensembl 74_37 +1 known in_frame_del c.163_165 p.E58in_frame_del 0.121:0.130:0.144 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 tier1 46 0 0.00 16 2 11.11 5 0 0.00 7 0 0.00 ENSG00000203849 0 genome.wustl.edu 37 1 142716762 142716762 + R SNP C C A TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 1 142716762 142716762 C A SNP ENSG00000203849 ENST00000595144 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 67 0 0.00 20 9 31.03 0 0 0.00 0 0 0.00 ENSG00000221156 0 genome.wustl.edu 37 7 35882541 35882542 + R DEL TA TA - TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 7 35882541 35882542 TA - DEL ENSG00000221156 ENST00000408229 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC007551.1 Clone_based_ensembl_gene ENSG00000221156 tier1 43 0 0.00 12 2 14.29 0 0 0.00 0 0 0.00 HMGB3 0 genome.wustl.edu 37 X 150156358 150156360 + In_Frame_Del DEL GAG GAG - TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 X 150156358 150156360 GAG - DEL HMGB3 ENST00000325307 human ensembl 74_37 +1 known in_frame_del c.574_576 p.E195in_frame_del 0.987:0.994:0.985 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 tier1 46 0 0.00 12 2 14.29 0 0 0.00 1 0 0.00 KMT2D 0 genome.wustl.edu 37 12 49426727 49426727 + Frame_Shift_Del DEL G G - TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 12 49426727 49426727 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.11761 p.Q3921fs 0.012 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 57 0 0.00 23 8 25.81 3 0 0.00 2 0 0.00 GP6 0 genome.wustl.edu 37 19 55526104 55526107 + Frame_Shift_Del DEL CAGA CAGA - TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66179bb1-3f19-4b27-aaba-d59e3bbac62c 234d02ef-7286-46bc-b74a-744de27b69d8 19 55526104 55526107 CAGA - DEL GP6 ENST00000310373 human ensembl 74_37 -1 known frame_shift_del c.1209_1206 p.P404fs 0.009:0.011:0.014:0.015 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 tier1 42 0 0.00 18 3 14.29 56 0 0.00 107 2 1.83