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 DCAF10 0 genome.wustl.edu 37 9 37860098 37860098 + Missense_Mutation SNP A A T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 9 37860098 37860098 A T SNP DCAF10 ENST00000377724 human ensembl 74_37 +1 known missense c.1219 p.S407C 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 tier1 - - 44 0 0.00 11 23 67.65 89 0 0.00 19 79 80.61 VPS4A 0 genome.wustl.edu 37 16 69354619 69354619 + Silent SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 16 69354619 69354619 G A SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known silent c.798 p.L266 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 32 0 0.00 1 14 93.33 143 1 0.69 17 87 83.65 KIAA0319L 0 genome.wustl.edu 37 1 35917355 35917355 + Missense_Mutation SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 1 35917355 35917355 C T SNP KIAA0319L ENST00000325722 human ensembl 74_37 -1 known missense c.1936 p.E646K 0.971 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 tier1 - - 65 0 0.00 68 8 10.53 74 0 0.00 102 16 13.56 DOCK2 0 genome.wustl.edu 37 5 169504797 169504797 + Silent SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 5 169504797 169504797 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.4950 p.S1650 0.999 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 29 0 0.00 13 6 31.58 52 0 0.00 24 12 33.33 LHFPL1 0 genome.wustl.edu 37 X 111914310 111914310 + Silent SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 X 111914310 111914310 G A SNP LHFPL1 ENST00000371968 human ensembl 74_37 -1 known silent c.309 p.V103 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 tier1 - - 21 0 0.00 26 11 29.73 19 0 0.00 33 14 29.79 ZNRF4 0 genome.wustl.edu 37 19 5456439 5456439 + Silent SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 19 5456439 5456439 C T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known silent c.937 p.L313 0.994 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 tier1 - - 21 0 0.00 9 3 25.00 40 0 0.00 15 10 40.00 SLC22A18 0 genome.wustl.edu 37 11 2940204 2940204 + R SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 11 2940204 2940204 C T SNP SLC22A18 ENST00000441077 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC22A18 HGNC ENSG00000110628 tier1 - - 26 0 0.00 20 6 23.08 36 0 0.00 37 9 19.57 MAGEB5 0 genome.wustl.edu 37 X 26235472 26235472 + Silent SNP A A G TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 X 26235472 26235472 A G SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known silent c.54 p.R18 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 70 0 0.00 28 23 45.10 110 0 0.00 36 58 61.70 MAGEB4 0 genome.wustl.edu 37 X 30260295 30260295 + Missense_Mutation SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 X 30260295 30260295 C T SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.43 p.R15C 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 tier1 - - 46 0 0.00 22 12 35.29 55 0 0.00 28 43 60.56 GBA2 0 genome.wustl.edu 37 9 35740618 35740618 + Missense_Mutation SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 9 35740618 35740618 G A SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known missense c.1052 p.T351I 0.798 pfam_GBA2_N,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 tier1 - - 42 0 0.00 3 23 88.46 170 0 0.00 23 76 76.77 LINC00686 0 genome.wustl.edu 37 20 61326511 61326511 + R SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 20 61326511 61326511 C T SNP LINC00686 ENST00000435412 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors LINC00686 HGNC ENSG00000237687 tier1 - - 38 0 0.00 20 20 50.00 38 0 0.00 24 15 38.46 DH5 0 genome.wustl.edu 37 5 13829759 13829759 + Missense_Mutation SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 5 13829759 13829759 G A SNP DH5 ENST00000265104 human ensembl 74_37 -1 known missense c.6304 p.R2102C 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 - - 62 0 0.00 69 8 10.39 120 0 0.00 102 15 12.82 TNFAIP1 0 genome.wustl.edu 37 17 26671442 26671442 + Missense_Mutation SNP A A G TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 17 26671442 26671442 A G SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known missense c.767 p.Y256C 0.995 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 tier1 - - 51 0 0.00 4 21 84.00 82 0 0.00 10 51 83.61 SEMA6A 0 genome.wustl.edu 37 5 115822489 115822489 + Silent SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 5 115822489 115822489 G A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known silent c.918 p.N306 0.994 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 tier1 rs201133760 GMAF=0 126 0 0.00 54 34 38.64 118 0 0.00 69 31 31.00 LOC100631378 0 genome.wustl.edu 37 19 38324091 38324091 + R SNP C C A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 19 38324091 38324091 C A SNP LOC100631378 ENST00000433142 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors AC016582.2 Clone_based_vega_gene ENSG00000225868 tier1 - - 74 0 0.00 49 15 23.44 111 0 0.00 81 37 31.36 ZNF730 0 genome.wustl.edu 37 19 23329315 23329315 + Missense_Mutation SNP G G C TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 19 23329315 23329315 G C SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1469 p.R490T 0.040 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 ZNF730 HGNC ENSG00000183850 tier1 - - 134 0 0.00 35 43 55.13 80 0 0.00 35 48 57.83 PTPRZ1 0 genome.wustl.edu 37 7 121623806 121623806 + Missense_Mutation SNP C C A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 7 121623806 121623806 C A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.707 p.T236K 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 69 0 0.00 31 39 55.71 108 0 0.00 72 59 45.04 TMEM71 0 genome.wustl.edu 37 8 133759251 133759251 + Missense_Mutation SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 8 133759251 133759251 G A SNP TMEM71 ENST00000356838 human ensembl 74_37 -1 known missense c.367 p.P123S 0.002 NULL NULL - no_errors TMEM71 HGNC ENSG00000165071 tier1 - - 139 0 0.00 80 132 61.97 167 0 0.00 98 162 62.31 GRIK5 0 genome.wustl.edu 37 19 42567637 42567637 + Silent SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 19 42567637 42567637 C T SNP GRIK5 ENST00000594528 human ensembl 74_37 -1 known silent c.285 p.R95 0.020 NULL NULL - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 14 0 0.00 3 15 83.33 135 0 0.00 35 56 61.54 EPHA3 0 genome.wustl.edu 37 3 89259542 89259542 + Missense_Mutation SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 3 89259542 89259542 C T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.686 p.S229F 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 tier1 - - 55 0 0.00 28 18 39.13 117 0 0.00 100 66 39.29 RGS6 0 genome.wustl.edu 37 14 72924986 72924986 + Silent SNP A A C TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 14 72924986 72924986 A C SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known silent c.243 p.A81 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 68 0 0.00 39 14 26.42 114 0 0.00 85 27 24.11 SCN4A 0 genome.wustl.edu 37 17 62018305 62018305 + Missense_Mutation SNP C C G TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 17 62018305 62018305 C G SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.5337 p.M1779I 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 23 0 0.00 22 13 37.14 51 0 0.00 27 18 40.00 LILRB5 0 genome.wustl.edu 37 19 54760408 54760408 + Missense_Mutation SNP T T G TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 19 54760408 54760408 T G SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.299 p.Y100S 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 52 0 0.00 39 14 26.42 57 0 0.00 50 19 27.54 KIF4B 0 genome.wustl.edu 37 5 154394598 154394598 + Silent SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 5 154394598 154394598 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known silent c.1179 p.Q393 0.065 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 82 0 0.00 48 20 29.41 52 0 0.00 37 6 13.95 SCN2A 0 genome.wustl.edu 37 2 166243439 166243439 + Missense_Mutation SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 2 166243439 166243439 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.4735 p.V1579M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 70 0 0.00 3 25 89.29 133 0 0.00 12 53 81.54 MYO15A 0 genome.wustl.edu 37 17 18023164 18023164 + Silent SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 17 18023164 18023164 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.1050 p.D350 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 86 0 0.00 7 45 86.54 123 0 0.00 18 57 76.00 LOC100128374 0 genome.wustl.edu 37 7 1887286 1887286 + Silent SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 7 1887286 1887286 C T SNP LOC100128374 ENST00000318959 human ensembl 74_37 +1 known silent c.528 p.L176 0.000 NULL NULL - no_errors AC110781.3 Clone_based_vega_gene ENSG00000176349 tier1 - - 30 0 0.00 17 8 32.00 24 0 0.00 24 4 14.29 SMURF2 0 genome.wustl.edu 37 17 62552085 62552085 + Missense_Mutation SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 17 62552085 62552085 C T SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known missense c.1463 p.R488Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF2 HGNC ENSG00000108854 tier1 - - 165 1 0.60 72 85 54.14 117 0 0.00 56 62 52.54 PCDHAC2 0 genome.wustl.edu 37 5 140347582 140347582 + Missense_Mutation SNP C C G TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 5 140347582 140347582 C G SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1231 p.R411G 0.143 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 PCDHAC2 HGNC ENSG00000243232 tier1 - - 26 0 0.00 10 16 61.54 76 0 0.00 20 43 68.25 SH3BGRL 0 genome.wustl.edu 37 X 80532631 80532631 + Missense_Mutation SNP T T C TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 X 80532631 80532631 T C SNP SH3BGRL ENST00000373212 human ensembl 74_37 +1 known missense c.194 p.L65P 0.903 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL HGNC ENSG00000131171 tier1 - - 237 0 0.00 148 80 35.09 120 0 0.00 82 44 34.38 OAS3 0 genome.wustl.edu 37 12 113401152 113401152 + Missense_Mutation SNP A A G TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 12 113401152 113401152 A G SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.2119 p.N707D 0.998 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 tier1 - - 23 0 0.00 25 12 32.43 17 0 0.00 20 9 31.03 EID1 0 genome.wustl.edu 37 15 49170547 49170552 + In_Frame_Del DEL GGAGGA GGAGGA - TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 GGAGGA GGAGGA GGAGGA - GGAGGA GGAGGA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 15 49170547 49170552 GGAGGA - DEL EID1 ENST00000530028 human ensembl 74_37 +1 known in_frame_del c.174_179 p.EE61in_frame_del 0.957:0.993:0.998:1.000:1.000:1.000 NULL NULL - no_errors EID1 HGNC ENSG00000255302 tier1 25 0 0.00 20 3 13.04 25 0 0.00 20 3 13.04 CTN3 0 genome.wustl.edu 37 10 68280512 68280512 + Frame_Shift_Del DEL G G - TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 10 68280512 68280512 G - DEL CTN3 ENST00000373744 human ensembl 74_37 -1 known frame_shift_del c.1394 p.A465fs 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN3 HGNC ENSG00000183230 tier1 57 0 0.00 4 16 80.00 83 1 1.19 11 42 79.25 FLNC 0 genome.wustl.edu 37 7 128486157 128486160 + Frame_Shift_Del DEL ACCT ACCT - TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 ACCT ACCT ACCT - ACCT ACCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 7 128486157 128486160 ACCT - DEL FLNC ENST00000325888 human ensembl 74_37 +1 known frame_shift_del c.3904_3907 p.T1302fs 1.000:1.000:0.980:0.983 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 33 0 0.00 33 8 19.51 39 0 0.00 30 11 26.83 KIF13B 0 genome.wustl.edu 37 8 28974507 28974507 + Silent SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 8 28974507 28974507 G A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.3678 p.S1226 0.804 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 tier1 - - 17 0 0.00 5 7 58.33 34 0 0.00 4 12 75.00 RHOXF2 0 genome.wustl.edu 37 X 119293221 119293221 + Missense_Mutation SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 X 119293221 119293221 G A SNP RHOXF2 ENST00000371388 human ensembl 74_37 +1 known missense c.380 p.G127E 0.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 tier1 - - 57 0 0.00 64 29 31.18 20 0 0.00 6 6 50.00 RP1L1 0 genome.wustl.edu 37 8 10469906 10469906 + Missense_Mutation SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 8 10469906 10469906 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.1702 p.A568T 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 71 0 0.00 12 25 67.57 11 0 0.00 3 5 62.50 VPS54 0 genome.wustl.edu 37 2 64193060 64193060 + Missense_Mutation SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 2 64193060 64193060 G A SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known missense c.533 p.T178I 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 tier1 - - 188 0 0.00 92 8 8.00 136 0 0.00 89 6 6.25 SNORD3A 0 genome.wustl.edu 37 17 19091392 19091392 + R SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 17 19091392 19091392 G A SNP SNORD3A ENST00000365494 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SNORD3A HGNC ENSG00000263934 tier1 - - 711 0 0.00 587 53 8.27 434 0 0.00 367 30 7.56 MUC16 0 genome.wustl.edu 37 19 9026241 9026241 + Missense_Mutation SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 19 9026241 9026241 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.36745 p.R12249C 0.000 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 78 0 0.00 48 9 15.79 21 0 0.00 9 1 10.00 SEZ6 0 genome.wustl.edu 37 17 27284100 27284100 + Frame_Shift_Del DEL G G - TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 17 27284100 27284100 G - DEL SEZ6 ENST00000317338 human ensembl 74_37 -1 known frame_shift_del c.2655 p.S886fs 0.714 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 tier1 19 0 0.00 14 2 12.50 15 0 0.00 9 0 0.00 TPTEP1 0 genome.wustl.edu 37 22 17178547 17178547 + R SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 22 17178547 17178547 G A SNP TPTEP1 ENST00000558085 human ensembl 74_37 +1 known rna NULL NULL 0.098 - - - no_errors TPTEP1 HGNC ENSG00000100181 tier1 - - 63 0 0.00 37 8 17.78 8 0 0.00 6 0 0.00 TTC40 0 genome.wustl.edu 37 10 134628237 134628237 + Missense_Mutation SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 10 134628237 134628237 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.1685 p.R562Q 0.289 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 80 0 0.00 20 19 48.72 13 0 0.00 6 1 14.29 ENSG00000263120 0 genome.wustl.edu 37 17 55062464 55062465 + R INS - - GAAAA TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 17 55062464 55062465 - GAAAA INS ENSG00000263120 ENST00000572877 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP5-1107A17.4 Clone_based_vega_gene ENSG00000263120 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 FOXD2 0 genome.wustl.edu 37 1 47904668 47904669 + In_Frame_Ins INS - - CCGCAC TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 1 47904668 47904669 - CCGCAC INS FOXD2 ENST00000334793 human ensembl 74_37 +1 known in_frame_ins c.861_862 p.291in_frame_insPH 0.056:0.602 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD2 HGNC ENSG00000186564 tier1 1 0 0.00 0 1 100.00 1 0 0.00 0 1 100.00 SNORD115-25 0 genome.wustl.edu 37 15 25460742 25460742 + R SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 15 25460742 25460742 C T SNP SNORD115-25 ENST00000362619 human ensembl 74_37 +1 known rna NULL NULL 0.940 - - - no_errors SNORD115-25 HGNC ENSG00000199489 tier1 - - 71 0 0.00 32 41 56.16 0 0 0.00 0 1 100.00 USP17L2 0 genome.wustl.edu 37 8 11995025 11995025 + Silent SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 8 11995025 11995025 G A SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.1245 p.L415 0.003 pfam_HABP4_PAIRBP1-bd pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 - - 130 0 0.00 36 61 62.24 0 0 0.00 0 0 0.00 USP17L2 0 genome.wustl.edu 37 8 11995433 11995433 + Silent SNP G G T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 8 11995433 11995433 G T SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.837 p.V279 0.021 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 rs75180221 - 124 0 0.00 50 37 42.53 3 0 0.00 1 1 50.00 USP17L2 0 genome.wustl.edu 37 8 11995496 11995496 + Silent SNP G G C TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 8 11995496 11995496 G C SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.774 p.L258 0.003 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 - - 101 0 0.00 45 38 45.78 2 0 0.00 1 0 0.00 RNF212 0 genome.wustl.edu 37 4 1087327 1087328 + In_Frame_Ins INS - - CTGCCCAGGCTGGAGCCAGCC TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 4 1087327 1087328 - CTGCCCAGGCTGGAGCCAGCC INS RNF212 ENST00000333673 human ensembl 74_37 -1 known in_frame_ins c.722_721 p.S241in_frame_insWLAPAWAA 0.085:0.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 tier1 3 0 0.00 3 2 40.00 3 0 0.00 3 2 40.00 DGKD 0 genome.wustl.edu 37 2 234343069 234343069 + Missense_Mutation SNP G G T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 2 234343069 234343069 G T SNP DGKD ENST00000264057 human ensembl 74_37 +1 known missense c.392 p.R131I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 tier1 - - 80 0 0.00 37 4 9.76 112 0 0.00 64 2 3.03 CCDC170 0 genome.wustl.edu 37 6 151869452 151869452 + Missense_Mutation SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 6 151869452 151869452 G A SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.602 p.R201H 0.998 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 tier1 rs200538059 - 106 0 0.00 52 5 8.77 121 0 0.00 104 2 1.89 MAP3K10 0 genome.wustl.edu 37 19 40721091 40721091 + Silent SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 292eef9c-c947-4841-99cc-5f5d183e2f1c 1ca46aad-e03c-417b-9dca-178b183c93c1 19 40721091 40721091 G A SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known silent c.2757 p.P919 0.001 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 tier1 - - 52 0 0.00 28 9 24.32 16 0 0.00 23 2 8.00