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 AFF2 0 genome.wustl.edu 37 X 147744010 147744010 + Silent SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 X 147744010 147744010 G A SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known silent c.762 p.V254 0.993 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 35 0 0.00 28 5 15.15 - - - AFF3 0 genome.wustl.edu 37 2 100209831 100209831 + Missense_Mutation SNP C C A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 2 100209831 100209831 C A SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known missense c.2367 p.R789S 0.867 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 87 0 0.00 81 13 13.83 - - - ANKRD36B 0 genome.wustl.edu 37 2 98127653 98127653 + RNA SNP T T G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 2 98127653 98127653 T G SNP ANKRD36B ENST00000497329 human ensembl 69_37n -1 known rna NULL NULL 0.012 - - - no_errors ANKRD36B HGNC ENSG00000196912 8 0 0.00 5 6 54.55 - - - ANKRD60 0 genome.wustl.edu 37 20 56796474 56796474 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 20 56796474 56796474 G A SNP ANKRD60 ENST00000457363 human ensembl 69_37n -1 known missense c.647 p.T216M 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin_supergroup - no_errors ANKRD60 HGNC ENSG00000124227 46 0 0.00 72 12 14.29 - - - ATP8B3 0 genome.wustl.edu 37 19 1784825 1784825 + Missense_Mutation SNP C C T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 19 1784825 1784825 C T SNP ATP8B3 ENST00000539485 human ensembl 69_37n -1 known missense c.3683 p.R1228H 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 61 0 0.00 39 6 13.33 - - - ATRX 0 genome.wustl.edu 37 X 76812972 76812972 + Missense_Mutation SNP C C T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 X 76812972 76812972 C T SNP ATRX ENST00000373344 human ensembl 69_37n -1 known missense c.6649 p.D2217N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 72 0 0.00 54 9 14.29 - - - CACNA1D 0 genome.wustl.edu 37 3 53765165 53765165 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 3 53765165 53765165 G A SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.2458 p.D820N 1.000 prints_LVDCC_a1dsu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 70 0 0.00 34 14 29.17 - - - CALM3 0 genome.wustl.edu 37 19 47112431 47112431 + RNA SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 19 47112431 47112431 G A SNP CALM3 ENST00000477244 human ensembl 69_37n +1 known rna NULL NULL 0.793 - - - no_errors CALM3 HGNC ENSG00000160014 87 0 0.00 45 33 42.31 - - - CCDC144A 0 genome.wustl.edu 37 17 16593988 16593988 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 16593988 16593988 G A SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.274 p.D92N 0.002 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 42 0 0.00 29 7 19.44 - - - CNPY3 0 genome.wustl.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 6 42897358 42897360 TGC - DEL CNPY3 ENST00000372836 human ensembl 69_37n +1 known in_frame_del c.50_52 p.L21in_frame_del 0.122:0.131:0.153 NULL pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 38 0 0.00 23 3 11.54 - - - CRMP1 0 genome.wustl.edu 37 4 5827283 5827283 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 4 5827283 5827283 G A SNP CRMP1 ENST00000324989 human ensembl 69_37n -1 known missense c.1907 p.S636L 1.000 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 73 0 0.00 39 9 18.75 - - - CSF2RA 0 genome.wustl.edu 37 X 1414387 1414387 + RNA SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 X 1414387 1414387 G A SNP CSF2RA ENST00000491683 human ensembl 69_37n +1 putative rna NULL NULL 0.040 - - - no_errors CSF2RA HGNC ENSG00000198223 176 0 0.00 114 26 18.57 - - - DENND4B 0 genome.wustl.edu 37 1 153916630 153916630 + Frame_Shift_Del DEL C C - TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 1 153916630 153916630 C - DEL DENND4B ENST00000361217 human ensembl 69_37n -1 known frame_shift_del c.221 p.G74fs 1.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 67 0 0.00 61 11 15.28 - - - DENND4B 0 genome.wustl.edu 37 1 153916698 153916698 + Silent SNP T T C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 1 153916698 153916698 T C SNP DENND4B ENST00000361217 human ensembl 69_37n -1 known silent c.153 p.A51 0.984 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 90 0 0.00 62 8 11.43 - - - DUSP15 0 genome.wustl.edu 37 20 30451741 30451741 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 20 30451741 30451741 G A SNP DUSP15 ENST00000278979 human ensembl 69_37n -1 known missense c.223 p.R75C 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,superfamily_SMAD_FHA_domain,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP15 HGNC ENSG00000149599 78 0 0.00 58 14 19.44 - - - EFTUD2 0 genome.wustl.edu 37 17 42928679 42928679 + Missense_Mutation SNP A A C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 42928679 42928679 A C SNP EFTUD2 ENST00000426333 human ensembl 69_37n -1 known missense c.2882 p.L961R 1.000 NULL pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 22 0 0.00 4 3 42.86 - - - EPB41L2 0 genome.wustl.edu 37 6 131216142 131216142 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 6 131216142 131216142 G A SNP EPB41L2 ENST00000337057 human ensembl 69_37n -1 known missense c.1354 p.R452C 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 69 0 0.00 42 8 16.00 - - - EPX 0 genome.wustl.edu 37 17 56281653 56281653 + Missense_Mutation SNP C C G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 56281653 56281653 C G SNP EPX ENST00000225371 human ensembl 69_37n +1 known missense c.2017 p.R673G 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 69 0 0.00 36 17 32.08 - - - FAM160A2 0 genome.wustl.edu 37 11 6245042 6245042 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 11 6245042 6245042 G A SNP FAM160A2 ENST00000265978 human ensembl 69_37n -1 known missense c.575 p.S192L 0.998 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 25 0 0.00 11 5 31.25 - - - FAM98C 0 genome.wustl.edu 37 19 38895664 38895664 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 19 38895664 38895664 G C SNP FAM98C ENST00000252530 human ensembl 69_37n +1 known missense c.466 p.E156Q 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 61 0 0.00 35 14 28.57 - - - GPR61 0 genome.wustl.edu 37 1 110086413 110086413 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 1 110086413 110086413 G A SNP GPR61 ENST00000404129 human ensembl 69_37n +1 known missense c.769 p.E257K 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR61 HGNC ENSG00000156097 62 0 0.00 44 8 15.38 - - - GSX2 0 genome.wustl.edu 37 4 54967839 54967839 + Missense_Mutation SNP C C G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 4 54967839 54967839 C G SNP GSX2 ENST00000326902 human ensembl 69_37n +1 known missense c.665 p.S222C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GSX2 HGNC ENSG00000180613 51 0 0.00 17 13 43.33 - - - HDLBP 0 genome.wustl.edu 37 2 242179047 242179047 + Missense_Mutation SNP C C T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 2 242179047 242179047 C T SNP HDLBP ENST00000373292 human ensembl 69_37n -1 novel missense c.2005 p.E669K 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HDLBP HGNC ENSG00000115677 31 0 0.00 16 13 44.83 - - - IFITM10 0 genome.wustl.edu 37 11 1756511 1756513 + In_Frame_Del DEL TAG TAG - TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 TAG TAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 11 1756511 1756513 TAG - DEL IFITM10 ENST00000340134 human ensembl 69_37n -1 known in_frame_del c.686_684 p.Y228in_frame_del 0.622:0.990:1.000 NULL pfam_Interferon-induced_TM_protein - no_errors IFITM10 HGNC ENSG00000244242 57 0 0.00 37 6 13.95 - - - INADL 0 genome.wustl.edu 37 1 62550250 62550250 + Missense_Mutation SNP T T A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 1 62550250 62550250 T A SNP INADL ENST00000371158 human ensembl 69_37n +1 known missense c.4307 p.M1436K 1.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 71 0 0.00 30 7 18.92 - - - INO80E 0 genome.wustl.edu 37 16 30012782 30012782 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 16 30012782 30012782 G A SNP INO80E ENST00000562291 human ensembl 69_37n +1 putative missense c.118 p.A40T 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon INO80E HGNC ENSG00000169592 95 0 0.00 120 22 15.49 - - - ITM2A 0 genome.wustl.edu 37 X 78616565 78616565 + RNA SNP G G T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 X 78616565 78616565 G T SNP ITM2A ENST00000469541 human ensembl 69_37n -1 known rna NULL NULL 0.010 - - - no_errors ITM2A HGNC ENSG00000078596 51 0 0.00 35 16 31.37 - - - JUP 0 genome.wustl.edu 37 17 39925390 39925390 + Missense_Mutation SNP T T A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 39925390 39925390 T A SNP JUP ENST00000310706 human ensembl 69_37n -1 known missense c.538 p.M180L 1.000 superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo - no_errors JUP HGNC ENSG00000173801 75 0 0.00 27 13 32.50 - - - KIAA0430 0 genome.wustl.edu 37 16 15702369 15702369 + Missense_Mutation SNP C C G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 16 15702369 15702369 C G SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known missense c.3961 p.E1321Q 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 37 0 0.00 39 11 22.00 - - - KIAA0922 0 genome.wustl.edu 37 4 154547320 154547320 + Missense_Mutation SNP A A G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 4 154547320 154547320 A G SNP KIAA0922 ENST00000409959 human ensembl 69_37n +1 known missense c.4067 p.D1356G 0.253 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 91 0 0.00 44 11 20.00 - - - KIF25 0 genome.wustl.edu 37 6 168434703 168434703 + Missense_Mutation SNP G G T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 6 168434703 168434703 G T SNP KIF25 ENST00000354419 human ensembl 69_37n +1 known missense c.309 p.E103D 0.936 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 77 0 0.00 43 11 20.37 - - - KIR2DL1 0 genome.wustl.edu 37 19 55294960 55294960 + Missense_Mutation SNP G G T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 19 55294960 55294960 G T SNP KIR2DL1 ENST00000336077 human ensembl 69_37n +1 known missense c.840 p.E280D 0.030 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 80 0 0.00 53 17 24.29 - - - KLHL17 0 genome.wustl.edu 37 1 899384 899384 + Silent SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 1 899384 899384 G A SNP KLHL17 ENST00000338591 human ensembl 69_37n +1 known silent c.1440 p.T480 0.992 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 46 0 0.00 21 6 22.22 - - - LIG3 0 genome.wustl.edu 37 17 33325668 33325668 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 33325668 33325668 G A SNP LIG3 ENST00000378526 human ensembl 69_37n +1 known missense c.2035 p.D679N 1.000 pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 64 0 0.00 34 11 24.44 - - - MEGF10 0 genome.wustl.edu 37 5 126705643 126705643 + Missense_Mutation SNP C C G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 5 126705643 126705643 C G SNP MEGF10 ENST00000274473 human ensembl 69_37n +1 known missense c.361 p.P121A 1.000 smart_EGF-like pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 91 0 0.00 73 40 35.40 - - - METTL11B 0 genome.wustl.edu 37 1 170115286 170115286 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 1 170115286 170115286 G A SNP METTL11B ENST00000439373 human ensembl 69_37n +1 known missense c.38 p.R13H 1.000 NULL pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik - no_errors METTL11B HGNC ENSG00000203740 34 0 0.00 32 9 21.95 - - - MPP7 0 genome.wustl.edu 37 10 28412995 28412995 + Nonsense_Mutation SNP C C A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 10 28412995 28412995 C A SNP MPP7 ENST00000337532 human ensembl 69_37n -1 known nonsense c.580 p.E194* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP7 HGNC ENSG00000150054 33 0 0.00 11 7 38.89 - - - MTUS1 0 genome.wustl.edu 37 8 17612530 17612530 + Nonsense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 8 17612530 17612530 G A SNP MTUS1 ENST00000262102 human ensembl 69_37n -1 known nonsense c.787 p.Q263* 0.138 NULL superfamily_Ferritin/RR-like - no_errors MTUS1 HGNC ENSG00000129422 93 0 0.00 51 11 17.74 - - - MUC17 0 genome.wustl.edu 37 7 100701312 100701312 + Missense_Mutation SNP C C T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 7 100701312 100701312 C T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.13469 p.T4490M 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 44 0 0.00 21 10 32.26 - - - MXRA5 0 genome.wustl.edu 37 X 3261811 3261811 + Nonsense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 X 3261811 3261811 G A SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known nonsense c.64 p.R22* 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 47 0 0.00 39 7 15.22 - - - NCKIPSD 0 genome.wustl.edu 37 3 48716506 48716506 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 3 48716506 48716506 G C SNP NCKIPSD ENST00000294129 human ensembl 69_37n -1 known missense c.1681 p.L561V 1.000 pfam_DUF2013 pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 63 0 0.00 34 14 29.17 - - - NDE1 0 genome.wustl.edu 37 16 15818436 15818436 + RNA SNP C C G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 16 15818436 15818436 C G SNP NDE1 ENST00000571896 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NDE1 HGNC ENSG00000072864 36 0 0.00 27 6 18.18 - - - NEK9 0 genome.wustl.edu 37 14 75585575 75585575 + Silent SNP G G T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 14 75585575 75585575 G T SNP NEK9 ENST00000238616 human ensembl 69_37n -1 known silent c.588 p.G196 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_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 37 0 0.00 35 9 20.45 - - - NOL11 0 genome.wustl.edu 37 17 65722667 65722667 + Silent SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 65722667 65722667 G A SNP NOL11 ENST00000253247 human ensembl 69_37n +1 known silent c.756 p.K252 0.014 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 102 0 0.00 41 13 24.07 - - - OR13C9 0 genome.wustl.edu 37 9 107380401 107380402 + Frame_Shift_Ins INS - - A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 9 107380401 107380402 - A INS OR13C9 ENST00000259362 human ensembl 69_37n -1 known frame_shift_ins c.85_84 p.V28fs 0.245:0.267 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 50 0 0.00 42 19 31.15 - - - OR4M1 0 genome.wustl.edu 37 14 20248532 20248532 + Silent SNP A A G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 14 20248532 20248532 A G SNP OR4M1 ENST00000315957 human ensembl 69_37n +1 known silent c.51 p.L17 0.050 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4M1 HGNC ENSG00000176299 58 0 0.00 41 5 10.87 - - - PHF2 0 genome.wustl.edu 37 9 96439907 96439907 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 9 96439907 96439907 G C SNP PHF2 ENST00000359246 human ensembl 69_37n +1 known missense c.3240 p.Q1080H 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 56 0 0.00 24 24 50.00 - - - PIGP 0 genome.wustl.edu 37 21 38437924 38437924 + Silent SNP T T C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 21 38437924 38437924 T C SNP PIGP ENST00000464265 human ensembl 69_37n -1 known silent c.435 p.Q145 0.752 pfam_PIG-P,pirsf_PIG-P_GPI19 pfam_PIG-P,pirsf_PIG-P_GPI19 - no_errors PIGP HGNC ENSG00000185808 50 0 0.00 44 12 21.43 - - - PMM1 0 genome.wustl.edu 37 22 41985728 41985728 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 22 41985728 41985728 G C SNP PMM1 ENST00000216259 human ensembl 69_37n -1 known missense c.82 p.R28G 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM1 HGNC ENSG00000100417 88 0 0.00 23 13 36.11 - - - PRAMEF7 0 genome.wustl.edu 37 1 12980074 12980074 + Silent SNP T T A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 1 12980074 12980074 T A SNP PRAMEF7 ENST00000330881 human ensembl 69_37n +1 known silent c.1266 p.G422 0.000 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 25 0 0.00 4 4 50.00 - - - PRDM4 0 genome.wustl.edu 37 12 108154313 108154313 + RNA SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 12 108154313 108154313 G A SNP PRDM4 ENST00000547268 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PRDM4 HGNC ENSG00000110851 39 0 0.00 31 7 18.42 - - - PRKDC 0 genome.wustl.edu 37 8 48811108 48811108 + Missense_Mutation SNP T T A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 8 48811108 48811108 T A SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.3386 p.D1129V 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 21 0 0.00 20 5 20.00 - - - PTEN 0 genome.wustl.edu 37 10 89692864 89692865 + Frame_Shift_Ins INS - - A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 10 89692864 89692865 - A INS PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_ins c.348_349 p.N116fs 1.000:1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 80 0 0.00 29 38 56.72 - - - SEMA5A 0 genome.wustl.edu 37 5 9066748 9066748 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 5 9066748 9066748 G C SNP SEMA5A ENST00000382496 human ensembl 69_37n -1 known missense c.2084 p.S695C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 83 0 0.00 58 20 25.64 - - - SH3RF1 0 genome.wustl.edu 37 4 170017808 170017808 + Silent SNP C C T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 4 170017808 170017808 C T SNP SH3RF1 ENST00000284637 human ensembl 69_37n -1 known silent c.2529 p.Q843 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 79 0 0.00 30 13 30.23 - - - SIGLEC10 0 genome.wustl.edu 37 19 51920051 51920051 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 19 51920051 51920051 G A SNP SIGLEC10 ENST00000339313 human ensembl 69_37n -1 known missense c.575 p.P192L 0.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 129 0 0.00 124 31 20.00 - - - SLC6A6 0 genome.wustl.edu 37 3 14487331 14487331 + Silent SNP C C T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 3 14487331 14487331 C T SNP SLC6A6 ENST00000360861 human ensembl 69_37n +1 known silent c.336 p.C112 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 88 0 0.00 53 12 18.46 - - - SLCO5A1 0 genome.wustl.edu 37 8 70594539 70594539 + Missense_Mutation SNP G G T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 8 70594539 70594539 G T SNP SLCO5A1 ENST00000260126 human ensembl 69_37n -1 known missense c.1662 p.S554R 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 39 0 0.00 29 6 17.14 - - - SPPL2C 0 genome.wustl.edu 37 17 43923001 43923001 + Silent SNP T T C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 43923001 43923001 T C SNP SPPL2C ENST00000329196 human ensembl 69_37n +1 known silent c.729 p.D243 0.003 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2C HGNC ENSG00000185294 53 0 0.00 22 4 15.38 - - - STARD3 0 genome.wustl.edu 37 17 37819130 37819130 + Missense_Mutation SNP A A G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 37819130 37819130 A G SNP STARD3 ENST00000336308 human ensembl 69_37n +1 known missense c.1307 p.Q436R 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 48 0 0.00 33 12 26.67 - - - TEX2 0 genome.wustl.edu 37 17 62232305 62232305 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 17 62232305 62232305 G C SNP TEX2 ENST00000258991 human ensembl 69_37n -1 known missense c.2848 p.L950V 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 27 0 0.00 10 7 41.18 - - - TMPRSS15 0 genome.wustl.edu 37 21 19698785 19698785 + Missense_Mutation SNP C C T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 21 19698785 19698785 C T SNP TMPRSS15 ENST00000284885 human ensembl 69_37n -1 known missense c.1885 p.A629T 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC ENSG00000154646 72 0 0.00 66 13 16.46 - - - TRAPPC8 0 genome.wustl.edu 37 18 29437586 29437586 + Missense_Mutation SNP C C G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 18 29437586 29437586 C G SNP TRAPPC8 ENST00000283351 human ensembl 69_37n -1 known missense c.3105 p.W1035C 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 72 0 0.00 59 10 14.49 - - - USP31 0 genome.wustl.edu 37 16 23083474 23083474 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 16 23083474 23083474 G A SNP USP31 ENST00000219689 human ensembl 69_37n -1 known missense c.2380 p.P794S 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC ENSG00000103404 34 0 0.00 47 8 14.55 - - - USP33 0 genome.wustl.edu 37 1 78163138 78163138 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 1 78163138 78163138 G C SNP USP33 ENST00000357428 human ensembl 69_37n -1 known missense c.2693 p.S898C 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC ENSG00000077254 52 0 0.00 33 23 41.07 - - - VGLL4 0 genome.wustl.edu 37 3 11712738 11712738 + Missense_Mutation SNP T T C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 3 11712738 11712738 T C SNP VGLL4 ENST00000404339 human ensembl 69_37n -1 known missense c.77 p.H26R 0.000 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 43 0 0.00 33 6 15.38 - - - XIST 0 genome.wustl.edu 37 X 73072487 73072487 + RNA SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 X 73072487 73072487 G A SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.191 - - - no_errors XIST HGNC ENSG00000229807 18 0 0.00 12 5 29.41 - - - XKR4 0 genome.wustl.edu 37 8 56436523 56436523 + Missense_Mutation SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 8 56436523 56436523 G A SNP XKR4 ENST00000327381 human ensembl 69_37n +1 known missense c.1690 p.A564T 0.098 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 67 0 0.00 48 11 18.64 - - - YY2 0 genome.wustl.edu 37 X 21874663 21874663 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 X 21874663 21874663 G C SNP YY2 ENST00000429584 human ensembl 69_37n +1 known missense c.61 p.E21Q 0.932 pirsf_TF_Yin_yang smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 54 0 0.00 44 14 24.14 - - - ZFHX2 0 genome.wustl.edu 37 14 23993874 23993874 + Missense_Mutation SNP C C G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 14 23993874 23993874 C G SNP ZFHX2 ENST00000419474 human ensembl 69_37n -1 known missense c.5277 p.E1759D 0.604 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 47 0 0.00 31 30 49.18 - - - ZNF429 0 genome.wustl.edu 37 19 21719636 21719636 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 19 21719636 21719636 G C SNP ZNF429 ENST00000358491 human ensembl 69_37n +1 known missense c.781 p.E261Q 0.003 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 ZNF429 HGNC ENSG00000197013 15 0 0.00 16 6 27.27 - - - ZNF541 0 genome.wustl.edu 37 19 48025241 48025241 + Nonsense_Mutation SNP T T A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 19 48025241 48025241 T A SNP ZNF541 ENST00000263351 human ensembl 69_37n -1 novel nonsense c.1579 p.R527* 0.955 superfamily_Homeodomain-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF541 HGNC ENSG00000118156 57 0 0.00 53 14 20.90 - - - ZNF700 0 genome.wustl.edu 37 19 12036032 12036032 + Missense_Mutation SNP T T G TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 305901ca-3086-4ca5-81d1-825a0ca5bdf3 5cb6799d-58c1-4424-a38d-a1e6d50ff772 19 12036032 12036032 T G SNP ZNF700 ENST00000254321 human ensembl 69_37n +1 known missense c.7 p.C3G 0.018 NULL 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 ZNF700 HGNC ENSG00000196757 51 0 0.00 60 8 11.76 - - -