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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA1 0 genome.wustl.edu 37 9 107568529 107568529 + Missense_Mutation SNP G G A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 9 107568529 107568529 G A SNP ABCA1 ENST00000374736 human ensembl 69_37n -1 known missense c.4457 p.P1486L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 79 0 0.00 17 30 63.83 - - - AMOTL1 0 genome.wustl.edu 37 11 94554978 94554978 + Missense_Mutation SNP G G T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 11 94554978 94554978 G T SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known missense c.1404 p.K468N 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 52 0 0.00 8 6 42.86 - - - ANK2 0 genome.wustl.edu 37 4 114158316 114158316 + Silent SNP C C T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 4 114158316 114158316 C T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known silent c.657 p.D219 0.994 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 64 0 0.00 11 19 63.33 - - - ATP7A 0 genome.wustl.edu 37 X 77268400 77268400 + Missense_Mutation SNP A A G TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 X 77268400 77268400 A G SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.2197 p.I733V 1.000 prints_ATPase_P-typ_cat/Cu-transptr pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 232 0 0.00 238 70 22.65 - - - BMP2K 0 genome.wustl.edu 37 4 79780777 79780777 + Missense_Mutation SNP T T C TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 4 79780777 79780777 T C SNP BMP2K ENST00000335016 human ensembl 69_37n +1 known missense c.923 p.I308T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMP2K HGNC ENSG00000138756 206 0 0.00 66 37 35.92 - - - C17orf53 0 genome.wustl.edu 37 17 42225492 42225492 + Silent SNP C C T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 17 42225492 42225492 C T SNP C17orf53 ENST00000319977 human ensembl 69_37n +1 known silent c.321 p.S107 0.005 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 47 0 0.00 17 7 29.17 - - - C4orf36 0 genome.wustl.edu 37 4 87809322 87809322 + Missense_Mutation SNP G G C TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 4 87809322 87809322 G C SNP C4orf36 ENST00000295898 human ensembl 69_37n -1 known missense c.172 p.L58V 0.023 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 162 0 0.00 64 43 40.19 - - - C7orf57 0 genome.wustl.edu 37 7 48086112 48086112 + Missense_Mutation SNP C C G TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 7 48086112 48086112 C G SNP C7orf57 ENST00000348904 human ensembl 69_37n +1 known missense c.406 p.Q136E 0.024 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 76 0 0.00 28 40 58.82 - - - CARNS1 0 genome.wustl.edu 37 11 67187071 67187073 + In_Frame_Del DEL GGA GGA - TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 11 67187071 67187073 GGA - DEL CARNS1 ENST00000445895 human ensembl 69_37n +1 known in_frame_del c.966_968 p.E326in_frame_del 1.000:1.000:1.000 NULL superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 48 0 0.00 13 2 13.33 - - - COL16A1 0 genome.wustl.edu 37 1 32124115 32124115 + Missense_Mutation SNP C C T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 1 32124115 32124115 C T SNP COL16A1 ENST00000271069 human ensembl 69_37n -1 known missense c.3994 p.G1332S 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 18 0 0.00 6 6 50.00 - - - DLG5 0 genome.wustl.edu 37 10 79567705 79567705 + RNA SNP G G A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 10 79567705 79567705 G A SNP DLG5 ENST00000484525 human ensembl 69_37n -1 known rna NULL NULL 0.941 - - - no_errors DLG5 HGNC ENSG00000151208 35 0 0.00 6 7 53.85 - - - GIPC3 0 genome.wustl.edu 37 19 3586586 3586586 + Nonsense_Mutation SNP C C T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 19 3586586 3586586 C T SNP GIPC3 ENST00000322315 human ensembl 69_37n +1 known nonsense c.319 p.R107* 0.990 superfamily_PDZ,pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 43 0 0.00 19 14 42.42 - - - GLB1L3 0 genome.wustl.edu 37 11 134147635 134147635 + Missense_Mutation SNP G G A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 11 134147635 134147635 G A SNP GLB1L3 ENST00000431683 human ensembl 69_37n +1 known missense c.191 p.R64Q 0.011 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 112 0 0.00 4 63 92.65 - - - GNB1 0 genome.wustl.edu 37 1 1720602 1720602 + Missense_Mutation SNP A A G TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 1 1720602 1720602 A G SNP GNB1 ENST00000378606 human ensembl 69_37n -1 known missense c.806 p.I269T 1.000 pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1 HGNC ENSG00000078369 97 0 0.00 30 8 21.05 - - - GRID1 0 genome.wustl.edu 37 10 87362239 87362239 + Missense_Mutation SNP G G A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 10 87362239 87362239 G A SNP GRID1 ENST00000327946 human ensembl 69_37n -1 known missense c.2821 p.R941W 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 49 0 0.00 5 4 44.44 - - - LPAR1 0 genome.wustl.edu 37 9 113637890 113637890 + Silent SNP G G A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 9 113637890 113637890 G A SNP LPAR1 ENST00000538760 human ensembl 69_37n -1 known silent c.909 p.F303 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 139 0 0.00 44 67 60.36 - - - MDN1 0 genome.wustl.edu 37 6 90402199 90402199 + Frame_Shift_Del DEL T T - TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 6 90402199 90402199 T - DEL MDN1 ENST00000369393 human ensembl 69_37n -1 known frame_shift_del c.10550 p.D3517fs 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 27 0 0.00 8 2 20.00 - - - MLL3 0 genome.wustl.edu 37 7 151962208 151962208 + Missense_Mutation SNP G G A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 7 151962208 151962208 G A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.1099 p.H367Y 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 435 0 0.00 176 69 28.16 - - - OPTN 0 genome.wustl.edu 37 10 13166055 13166055 + Missense_Mutation SNP G G A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 10 13166055 13166055 G A SNP OPTN ENST00000263036 human ensembl 69_37n +1 known missense c.943 p.E315K 0.994 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 117 0 0.00 38 25 39.68 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 95 0 0.00 53 69 56.56 - - - POTEM 0 genome.wustl.edu 37 14 20020113 20020113 + Silent SNP C C T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 14 20020113 20020113 C T SNP POTEM ENST00000547848 human ensembl 69_37n -1 known silent c.108 p.R36 0.101 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 15 0 0.00 12 5 29.41 - - - SGCB 0 genome.wustl.edu 37 4 52899712 52899712 + Missense_Mutation SNP C C A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 4 52899712 52899712 C A SNP SGCB ENST00000381431 human ensembl 69_37n -1 known missense c.128 p.G43V 1.000 NULL pfam_Sarcoglycan - no_errors SGCB HGNC ENSG00000163069 311 0 0.00 140 85 37.78 - - - SLC39A13 0 genome.wustl.edu 37 11 47436878 47436878 + Silent SNP C C T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 11 47436878 47436878 C T SNP SLC39A13 ENST00000362021 human ensembl 69_37n +1 known silent c.1080 p.I360 0.477 pfam_ZIP pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 91 0 0.00 22 13 37.14 - - - SRSF8 0 genome.wustl.edu 37 11 94801110 94801110 + RNA SNP C C G TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 11 94801110 94801110 C G SNP SRSF8 ENST00000529911 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SRSF8 HGNC ENSG00000180771 85 0 0.00 5 23 82.14 - - - SVEP1 0 genome.wustl.edu 37 9 113169227 113169227 + Missense_Mutation SNP C C T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 9 113169227 113169227 C T SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.8653 p.D2885N 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 29 0 0.00 18 13 41.94 - - - TIMM22 0 genome.wustl.edu 37 17 900500 900500 + Missense_Mutation SNP C C T TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 17 900500 900500 C T SNP TIMM22 ENST00000327158 human ensembl 69_37n +1 known missense c.118 p.R40W 0.898 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM22 HGNC ENSG00000177370 26 0 0.00 2 9 81.82 - - - TSKS 0 genome.wustl.edu 37 19 50251415 50251415 + Missense_Mutation SNP G G A TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ada199c5-8015-481f-a46e-46fa42646cd8 c86ec88b-34c5-4b99-a6a7-aa0c4b033684 19 50251415 50251415 G A SNP TSKS ENST00000246801 human ensembl 69_37n -1 known missense c.506 p.S169F 0.829 NULL NULL - no_errors TSKS HGNC ENSG00000126467 162 0 0.00 44 55 55.56 - - -