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 ABCA3 0 genome.wustl.edu 37 16 2336930 2336930 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 16 2336930 2336930 C G SNP ABCA3 ENST00000301732 human ensembl 69_37n -1 known missense c.3043 p.E1015Q 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 22 0 0.00 41 22 34.92 - - - ARFGEF1 0 genome.wustl.edu 37 8 68208734 68208734 + Nonsense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 8 68208734 68208734 G A SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known nonsense c.571 p.Q191* 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 208 0 0.00 674 326 32.47 - - - ARSK 0 genome.wustl.edu 37 5 94939216 94939216 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 5 94939216 94939216 C G SNP ARSK ENST00000380009 human ensembl 69_37n +1 known missense c.1597 p.P533A 0.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 104 0 0.00 26 19 42.22 - - - ASTL 0 genome.wustl.edu 37 2 96795705 96795705 + Missense_Mutation SNP G G C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 2 96795705 96795705 G C SNP ASTL ENST00000342380 human ensembl 69_37n -1 known missense c.732 p.S244R 0.976 pfam_Peptidase_M12A,prints_Peptidase_M12A pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 46 0 0.00 127 22 14.77 - - - ASXL1 0 genome.wustl.edu 37 20 31022690 31022690 + Silent SNP A A G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 20 31022690 31022690 A G SNP ASXL1 ENST00000375687 human ensembl 69_37n +1 known silent c.2175 p.R725 0.004 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 50 0 0.00 64 16 20.00 - - - ATP4A 0 genome.wustl.edu 37 19 36046578 36046578 + Missense_Mutation SNP T T G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 19 36046578 36046578 T G SNP ATP4A ENST00000262623 human ensembl 69_37n -1 known missense c.2006 p.K669T 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP4A HGNC ENSG00000105675 167 0 0.00 61 17 21.52 - - - ATXN2 0 genome.wustl.edu 37 12 111926531 111926531 + Missense_Mutation SNP T T C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 12 111926531 111926531 T C SNP ATXN2 ENST00000483311 human ensembl 69_37n -1 known missense c.2231 p.E744G 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATXN2 HGNC ENSG00000204842 47 0 0.00 166 30 15.31 - - - AUP1 0 genome.wustl.edu 37 2 74754449 74754449 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 2 74754449 74754449 C G SNP AUP1 ENST00000377526 human ensembl 69_37n -1 known missense c.1003 p.E335Q 1.000 pfam_CUE,smart_CUE,pfscan_CUE pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 101 0 0.00 64 11 14.47 - - - BIRC6 0 genome.wustl.edu 37 2 32738164 32738164 + Missense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 2 32738164 32738164 G A SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.10511 p.S3504N 1.000 pfam_DUF3643 pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 182 0 0.00 391 88 18.37 - - - C10orf12 0 genome.wustl.edu 37 10 98743239 98743239 + Missense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 10 98743239 98743239 G A SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known missense c.2092 p.A698T 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 109 0 0.00 35 26 42.62 - - - C16orf62 0 genome.wustl.edu 37 16 19711758 19711758 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 16 19711758 19711758 C G SNP C16orf62 ENST00000438132 human ensembl 69_37n +1 known missense c.3119 p.T1040R 0.213 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 151 0 0.00 72 21 22.58 - - - CA9 0 genome.wustl.edu 37 9 35675543 35675543 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 9 35675543 35675543 C G SNP CA9 ENST00000378357 human ensembl 69_37n +1 known missense c.412 p.Q138E 0.996 superfamily_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 101 0 0.00 51 72 58.06 - - - CAMTA2 0 genome.wustl.edu 37 17 4872988 4872988 + Silent SNP C C T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 17 4872988 4872988 C T SNP CAMTA2 ENST00000414043 human ensembl 69_37n -1 known silent c.3267 p.R1089 0.974 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 313 0 0.00 414 229 35.61 - - - CASQ2 0 genome.wustl.edu 37 1 116280890 116280890 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 116280890 116280890 C G SNP CASQ2 ENST00000261448 human ensembl 69_37n -1 known missense c.487 p.D163H 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 293 0 0.00 476 130 21.38 - - - CCDC141 0 genome.wustl.edu 37 2 179702066 179702066 + Missense_Mutation SNP A A C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 2 179702066 179702066 A C SNP CCDC141 ENST00000420890 human ensembl 69_37n -1 known missense c.3880 p.F1294V 0.001 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 152 1 0.65 295 43 12.68 - - - CNKSR3 0 genome.wustl.edu 37 6 154754627 154754627 + Silent SNP C C T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 6 154754627 154754627 C T SNP CNKSR3 ENST00000367213 human ensembl 69_37n -1 known silent c.522 p.A174 0.683 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 33 0 0.00 182 66 26.61 - - - COL19A1 0 genome.wustl.edu 37 6 70866053 70866053 + Missense_Mutation SNP G G T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 6 70866053 70866053 G T SNP COL19A1 ENST00000322773 human ensembl 69_37n +1 known missense c.2114 p.G705V 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 84 0 0.00 193 23 10.60 - - - CSPG5 0 genome.wustl.edu 37 3 47618393 47618393 + Missense_Mutation SNP C C T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 3 47618393 47618393 C T SNP CSPG5 ENST00000383738 human ensembl 69_37n -1 known missense c.1123 p.D375N 1.000 NULL pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 130 0 0.00 8 6 42.86 - - - DDX55 0 genome.wustl.edu 37 12 124104236 124104237 + Frame_Shift_Del DEL AA AA - TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 12 124104236 124104237 AA - DEL DDX55 ENST00000238146 human ensembl 69_37n +1 known frame_shift_del c.1591_1592 p.K531fs 1.000:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 168 0 0.00 11 6 33.33 - - - DLC1 0 genome.wustl.edu 37 8 12956886 12956886 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 8 12956886 12956886 C G SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known missense c.2960 p.G987A 1.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 104 0 0.00 108 40 27.03 - - - FAM49B 0 genome.wustl.edu 37 8 130867866 130867866 + Missense_Mutation SNP A A C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 8 130867866 130867866 A C SNP FAM49B ENST00000401979 human ensembl 69_37n -1 known missense c.429 p.D143E 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 154 0 0.00 153 78 33.77 - - - FAT1 0 genome.wustl.edu 37 4 187627851 187627851 + Missense_Mutation SNP T T C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 4 187627851 187627851 T C SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.3131 p.K1044R 0.954 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 195 0 0.00 49 46 48.42 - - - FBXW7 0 genome.wustl.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 4 153247366 153247366 C T SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.1436 p.R479Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 139 0 0.00 47 110 70.06 - - - GPR128 0 genome.wustl.edu 37 3 100354667 100354667 + Silent SNP T T G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 3 100354667 100354667 T G SNP GPR128 ENST00000273352 human ensembl 69_37n +1 known silent c.594 p.P198 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 114 0 0.00 125 75 37.50 - - - GREB1 0 genome.wustl.edu 37 2 11773164 11773164 + Missense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 2 11773164 11773164 G A SNP GREB1 ENST00000234142 human ensembl 69_37n +1 known missense c.4966 p.V1656I 0.203 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 91 0 0.00 200 36 15.25 - - - HECTD4 0 genome.wustl.edu 37 12 112607429 112607429 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 12 112607429 112607429 C G SNP HECTD4 ENST00000377560 human ensembl 69_37n -1 known missense c.11570 p.C3857S 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 35 0 0.00 9 7 43.75 - - - KCNJ15 0 genome.wustl.edu 37 21 39671648 39671648 + Missense_Mutation SNP G G T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 21 39671648 39671648 G T SNP KCNJ15 ENST00000328656 human ensembl 69_37n +1 known missense c.465 p.L155F 0.988 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 149 0 0.00 38 69 64.49 - - - KCNN3 0 genome.wustl.edu 37 1 154841540 154841540 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 154841540 154841540 C G SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known missense c.901 p.E301Q 1.000 pfam_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 219 0 0.00 301 76 20.16 - - - KHDRBS1 0 genome.wustl.edu 37 1 32502510 32502510 + Splice_Site SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 32502510 32502510 G A SNP KHDRBS1 ENST00000327300 human ensembl 69_37n +1 known splice_site c.772-1 e5-1 1.000 - - - no_errors KHDRBS1 HGNC ENSG00000121774 195 0 0.00 186 37 16.59 - - - KIAA1147 0 genome.wustl.edu 37 7 141362534 141362534 + Missense_Mutation SNP G G C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 7 141362534 141362534 G C SNP KIAA1147 ENST00000536163 human ensembl 69_37n -1 known missense c.1290 p.D430E 1.000 NULL pfam_DUF2347 - no_errors KIAA1147 HGNC ENSG00000257093 29 0 0.00 65 35 35.00 - - - LILRB5 0 genome.wustl.edu 37 19 54754872 54754873 + Frame_Shift_Ins INS - - A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 19 54754872 54754873 - A INS LILRB5 ENST00000450632 human ensembl 69_37n -1 known frame_shift_ins c.1763_1762 p.R588fs 0.000:0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC ENSG00000105609 55 0 0.00 48 6 11.11 - - - MRPL52 0 genome.wustl.edu 37 14 23302667 23302667 + Silent SNP A A G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 14 23302667 23302667 A G SNP MRPL52 ENST00000355151 human ensembl 69_37n +1 known silent c.198 p.R66 0.995 NULL NULL - no_errors MRPL52 HGNC ENSG00000172590 154 0 0.00 118 57 32.57 - - - MRPS7 0 genome.wustl.edu 37 17 73261941 73261941 + Missense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 17 73261941 73261941 G A SNP MRPS7 ENST00000581993 human ensembl 69_37n +1 putative missense c.454 p.E152K 0.899 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MRPS7 HGNC ENSG00000125445 50 0 0.00 28 9 24.32 - - - MYH7B 0 genome.wustl.edu 37 20 33575611 33575611 + Missense_Mutation SNP G G C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 20 33575611 33575611 G C SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel missense c.1436 p.R479P 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 32 0 0.00 56 11 16.42 - - - NCDN 0 genome.wustl.edu 37 1 36031094 36031095 + Frame_Shift_Ins INS - - T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 36031094 36031095 - T INS NCDN ENST00000356090 human ensembl 69_37n +1 known frame_shift_ins c.2020_2021 p.S675fs 1.000:1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 9 0 0.00 6 5 45.45 - - - OR6C2 0 genome.wustl.edu 37 12 55846550 55846550 + Missense_Mutation SNP A A G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 12 55846550 55846550 A G SNP OR6C2 ENST00000322678 human ensembl 69_37n +1 known missense c.553 p.I185V 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 297 0 0.00 460 126 21.47 - - - PARP9 0 genome.wustl.edu 37 3 122274300 122274300 + Frame_Shift_Del DEL T T - TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 3 122274300 122274300 T - DEL PARP9 ENST00000360356 human ensembl 69_37n -1 known frame_shift_del c.823 p.I275fs 1.000 pfscan_A1pp pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 392 0 0.00 347 148 29.60 - - - PAX3 0 genome.wustl.edu 37 2 223065949 223065949 + Missense_Mutation SNP T T C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 2 223065949 223065949 T C SNP PAX3 ENST00000392069 human ensembl 69_37n -1 known missense c.1462 p.I488V 0.908 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 117 1 0.85 141 60 29.85 - - - PDE3B 0 genome.wustl.edu 37 11 14853233 14853233 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 11 14853233 14853233 C G SNP PDE3B ENST00000282096 human ensembl 69_37n +1 known missense c.2004 p.D668E 0.063 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 169 0 0.00 66 21 24.14 - - - PLEKHG4B 0 genome.wustl.edu 37 5 182269 182269 + Missense_Mutation SNP C C T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 5 182269 182269 C T SNP PLEKHG4B ENST00000283426 human ensembl 69_37n +1 known missense c.3647 p.S1216F 0.672 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 22 0 0.00 34 11 24.44 - - - POLR1A 0 genome.wustl.edu 37 2 86327172 86327172 + Silent SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 2 86327172 86327172 G A SNP POLR1A ENST00000263857 human ensembl 69_37n -1 known silent c.201 p.C67 0.985 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 63 0 0.00 175 109 38.38 - - - RBM23 0 genome.wustl.edu 37 14 23374450 23374450 + Silent SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 14 23374450 23374450 G A SNP RBM23 ENST00000359890 human ensembl 69_37n -1 known silent c.579 p.R193 0.983 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM23 HGNC ENSG00000100461 160 1 0.62 39 71 64.55 - - - RGL1 0 genome.wustl.edu 37 1 183816895 183816895 + Silent SNP C C T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 183816895 183816895 C T SNP RGL1 ENST00000304685 human ensembl 69_37n +1 known silent c.439 p.L147 0.990 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 270 1 0.37 275 97 26.08 - - - RMND1 0 genome.wustl.edu 37 6 151748625 151748625 + Silent SNP T T A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 6 151748625 151748625 T A SNP RMND1 ENST00000367303 human ensembl 69_37n -1 known silent c.822 p.I274 0.027 pfam_DUF155 pfam_DUF155 - no_errors RMND1 HGNC ENSG00000155906 57 0 0.00 568 108 15.93 - - - SGK3 0 genome.wustl.edu 37 8 67748219 67748219 + Silent SNP T T C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 8 67748219 67748219 T C SNP SGK3 ENST00000262211 human ensembl 69_37n +1 known silent c.651 p.N217 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,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC ENSG00000104205 145 0 0.00 247 62 20.00 - - - SLC12A4 0 genome.wustl.edu 37 16 67995581 67995581 + Missense_Mutation SNP G G C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 16 67995581 67995581 G C SNP SLC12A4 ENST00000422611 human ensembl 69_37n -1 known missense c.245 p.S82W 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 37 0 0.00 69 23 25.00 - - - SLC27A4 0 genome.wustl.edu 37 9 131115713 131115713 + Missense_Mutation SNP A A G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 9 131115713 131115713 A G SNP SLC27A4 ENST00000300456 human ensembl 69_37n +1 known missense c.1217 p.N406S 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 38 0 0.00 11 15 57.69 - - - SLC2A4 0 genome.wustl.edu 37 17 7187850 7187850 + Nonstop_Mutation SNP T T C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 17 7187850 7187850 T C SNP SLC2A4 ENST00000570783 human ensembl 69_37n +1 known nonstop c.658 p.*220R 0.732 NULL pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Glc_transpt_4,pfscan_MFS_dom - no_errors SLC2A4 HGNC ENSG00000181856 92 0 0.00 30 15 33.33 - - - SLC5A6 0 genome.wustl.edu 37 2 27428252 27428252 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 2 27428252 27428252 C G SNP SLC5A6 ENST00000310574 human ensembl 69_37n -1 known missense c.700 p.V234L 0.946 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 103 0 0.00 68 21 23.60 - - - SLCO1C1 0 genome.wustl.edu 37 12 20885886 20885886 + Silent SNP G G C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 12 20885886 20885886 G C SNP SLCO1C1 ENST00000381552 human ensembl 69_37n +1 known silent c.1230 p.G410 0.998 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 199 0 0.00 236 70 22.73 - - - SMCR7L 0 genome.wustl.edu 37 22 39910045 39910045 + Missense_Mutation SNP T T C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 22 39910045 39910045 T C SNP SMCR7L ENST00000325301 human ensembl 69_37n +1 known missense c.1109 p.I370T 1.000 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 68 0 0.00 34 9 20.93 - - - SRRM1 0 genome.wustl.edu 37 1 24975442 24975442 + Silent SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 24975442 24975442 G A SNP SRRM1 ENST00000447431 human ensembl 69_37n +1 known silent c.327 p.L109 1.000 pfam_PWI,superfamily_PWI,smart_PWI pfam_PWI,superfamily_PWI,smart_PWI - no_errors SRRM1 HGNC ENSG00000133226 628 0 0.00 137 56 28.87 - - - STC2 0 genome.wustl.edu 37 5 172745089 172745090 + Frame_Shift_Ins INS - - G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 5 172745089 172745090 - G INS STC2 ENST00000265087 human ensembl 69_37n -1 known frame_shift_ins c.670_669 p.E223fs 0.320:0.000 NULL pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 26 0 0.00 14 2 12.50 - - - STK38L 0 genome.wustl.edu 37 12 27450761 27450761 + Missense_Mutation SNP T T G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 12 27450761 27450761 T G SNP STK38L ENST00000389032 human ensembl 69_37n +1 known missense c.108 p.I36M 0.938 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38L HGNC ENSG00000211455 176 0 0.00 117 35 22.88 - - - TCHH 0 genome.wustl.edu 37 1 152082308 152082308 + Missense_Mutation SNP C C T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 152082308 152082308 C T SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.3385 p.E1129K 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 408 1 0.24 2093 358 14.59 - - - TNKS1BP1 0 genome.wustl.edu 37 11 57081323 57081323 + Nonsense_Mutation SNP G G C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 11 57081323 57081323 G C SNP TNKS1BP1 ENST00000358252 human ensembl 69_37n -1 known nonsense c.839 p.S280* 0.099 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 10 0 0.00 12 14 53.85 - - - TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 160 0 0.00 121 216 64.09 - - - TPR 0 genome.wustl.edu 37 1 186329484 186329484 + Missense_Mutation SNP G G C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 186329484 186329484 G C SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.1112 p.S371C 0.993 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 78 0 0.00 70 28 28.57 - - - TTF2 0 genome.wustl.edu 37 1 117634518 117634518 + Silent SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 1 117634518 117634518 G A SNP TTF2 ENST00000369466 human ensembl 69_37n +1 known silent c.2751 p.L917 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 122 0 0.00 114 29 20.14 - - - TYRO3 0 genome.wustl.edu 37 15 41859670 41859670 + Missense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 15 41859670 41859670 G A SNP TYRO3 ENST00000263798 human ensembl 69_37n +1 known missense c.896 p.R299H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 69 0 0.00 40 17 29.31 - - - VAMP1 0 genome.wustl.edu 37 12 6574108 6574108 + Splice_Site SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 12 6574108 6574108 C G SNP VAMP1 ENST00000361716 human ensembl 69_37n -1 known splice_site c.289-1 e4-1 1.000 - - - no_errors VAMP1 HGNC ENSG00000139190 235 0 0.00 194 72 27.07 - - - VAV1 0 genome.wustl.edu 37 19 6828862 6828862 + Missense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 19 6828862 6828862 G A SNP VAV1 ENST00000304076 human ensembl 69_37n +1 known missense c.1216 p.D406N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 102 1 0.97 22 43 66.15 - - - ZNF33B 0 genome.wustl.edu 37 10 43088872 43088872 + Missense_Mutation SNP T T C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 10 43088872 43088872 T C SNP ZNF33B ENST00000359467 human ensembl 69_37n -1 known missense c.1526 p.K509R 0.003 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 ZNF33B HGNC ENSG00000196693 287 0 0.00 333 115 25.67 - - - ZNF526 0 genome.wustl.edu 37 19 42730230 42730231 + Frame_Shift_Ins INS - - C TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 19 42730230 42730231 - C INS ZNF526 ENST00000301215 human ensembl 69_37n +1 known frame_shift_ins c.1675_1676 p.R561fs 0.046:0.048 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 32 0 0.00 20 3 13.04 - - - ZNF761 0 genome.wustl.edu 37 19 53959767 53959767 + RNA SNP A A T TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 19 53959767 53959767 A T SNP ZNF761 ENST00000334095 human ensembl 69_37n +1 known rna NULL NULL 0.859 - - - no_errors ZNF761 HGNC ENSG00000160336 337 0 0.00 73 31 29.81 - - - ZNF844 0 genome.wustl.edu 37 19 12186728 12186728 + Missense_Mutation SNP C C A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3f20d0fe-aaa1-40f1-b2c1-7f070f93aef5 bbf1c43d-d7b3-4574-a074-d22ad537829c 19 12186728 12186728 C A SNP ZNF844 ENST00000439326 human ensembl 69_37n +1 known missense c.793 p.P265T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 107 0 0.00 92 23 20.00 - - -