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 ADAMTS3 0 genome.wustl.edu 37 4 73149357 73149357 + Silent SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 4 73149357 73149357 G A SNP ADAMTS3 ENST00000286657 human ensembl 69_37n -1 known silent c.3114 p.S1038 1.000 pfscan_PLAC pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 139 0 0.00 86 73 45.91 - - - ARMCX5 0 genome.wustl.edu 37 X 101858403 101858403 + Missense_Mutation SNP G G T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a X 101858403 101858403 G T SNP ARMCX5 ENST00000246174 human ensembl 69_37n +1 known missense c.1334 p.S445I 0.146 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 104 0 0.00 98 42 30.00 - - - ASIC3 0 genome.wustl.edu 37 7 150746364 150746364 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 7 150746364 150746364 G A SNP ASIC3 ENST00000297512 human ensembl 69_37n +1 known missense c.392 p.R131Q 0.954 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 43 0 0.00 4 16 80.00 - - - C1QTNF5 0 genome.wustl.edu 37 11 119216272 119216273 + Frame_Shift_Ins INS - - G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 11 119216272 119216273 - G INS C1QTNF5 ENST00000449574 human ensembl 69_37n -1 known frame_shift_ins c.499_498 p.N166fs 0.997:1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt - no_errors MFRP Clone_based_vega_gene ENSG00000235718 108 0 0.00 31 6 16.22 - - - C1QTNF9B 0 genome.wustl.edu 37 13 24465804 24465804 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 13 24465804 24465804 G A SNP C1QTNF9B ENST00000382137 human ensembl 69_37n -1 known missense c.626 p.T209M 0.982 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9B HGNC ENSG00000205863 191 0 0.00 324 50 13.37 - - - C5orf25 0 genome.wustl.edu 37 5 175717341 175717341 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 5 175717341 175717341 C T SNP C5orf25 ENST00000443967 human ensembl 69_37n +1 known missense c.757 p.R253W 0.004 NULL NULL - no_errors C5orf25 HGNC ENSG00000170085 404 0 0.00 130 116 46.59 - - - CDC42EP1 0 genome.wustl.edu 37 22 37962638 37962639 + Frame_Shift_Ins INS - - C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 22 37962638 37962639 - C INS CDC42EP1 ENST00000249014 human ensembl 69_37n +1 known frame_shift_ins c.282_283 p.R96fs 0.000:0.001 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC ENSG00000128283 53 0 0.00 20 4 16.67 - - - CEP250 0 genome.wustl.edu 37 20 34092646 34092646 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 20 34092646 34092646 G A SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known missense c.6449 p.R2150Q 0.036 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 90 0 0.00 61 55 47.41 - - - CNGA4 0 genome.wustl.edu 37 11 6261469 6261469 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 11 6261469 6261469 C T SNP CNGA4 ENST00000379936 human ensembl 69_37n +1 known missense c.445 p.R149C 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 18 0 0.00 69 36 34.29 - - - COL9A1 0 genome.wustl.edu 37 6 70942387 70942387 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 6 70942387 70942387 G A SNP COL9A1 ENST00000357250 human ensembl 69_37n -1 known missense c.2402 p.P801L 0.997 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 124 0 0.00 58 18 23.68 - - - CR1 0 genome.wustl.edu 37 1 207726127 207726127 + Missense_Mutation SNP T T G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 1 207726127 207726127 T G SNP CR1 ENST00000367049 human ensembl 69_37n +1 known missense c.3032 p.V1011G 0.003 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 182 0 0.00 106 17 13.71 - - - CRNKL1 0 genome.wustl.edu 37 20 20033036 20033036 + Missense_Mutation SNP A A C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 20 20033036 20033036 A C SNP CRNKL1 ENST00000377340 human ensembl 69_37n -1 known missense c.434 p.F145C 0.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 86 0 0.00 58 29 33.33 - - - DTNB 0 genome.wustl.edu 37 2 25611152 25611152 + Missense_Mutation SNP A A G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 25611152 25611152 A G SNP DTNB ENST00000406818 human ensembl 69_37n -1 known missense c.1654 p.S552P 0.992 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 63 0 0.00 50 13 20.63 - - - DYSF 0 genome.wustl.edu 37 2 71839796 71839797 + Frame_Shift_Ins INS - - C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 71839796 71839797 - C INS DYSF ENST00000413539 human ensembl 69_37n +1 known frame_shift_ins c.4286_4287 p.I1432fs 1.000:0.989 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 69 0 0.00 41 5 10.87 - - - ELMO1 0 genome.wustl.edu 37 7 37253022 37253022 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 7 37253022 37253022 G A SNP ELMO1 ENST00000310758 human ensembl 69_37n -1 known missense c.872 p.A291V 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 209 0 0.00 243 57 18.94 - - - FAM59A 0 genome.wustl.edu 37 18 29848211 29848211 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 18 29848211 29848211 C T SNP FAM59A ENST00000269209 human ensembl 69_37n -1 known missense c.2254 p.E752K 1.000 NULL superfamily_SAM/pointed - no_errors FAM59A HGNC ENSG00000141441 96 0 0.00 119 19 13.77 - - - GAD1 0 genome.wustl.edu 37 2 171685996 171685996 + Missense_Mutation SNP A A G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 171685996 171685996 A G SNP GAD1 ENST00000358196 human ensembl 69_37n +1 known missense c.157 p.R53G 1.000 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC ENSG00000128683 31 0 0.00 20 12 37.50 - - - GIPC3 0 genome.wustl.edu 37 19 3589526 3589527 + Frame_Shift_Ins INS - - G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 19 3589526 3589527 - G INS GIPC3 ENST00000322315 human ensembl 69_37n +1 known frame_shift_ins c.678_679 p.A228fs 0.411:0.803 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 82 0 0.00 36 4 10.00 - - - GLYR1 0 genome.wustl.edu 37 16 4862228 4862229 + Frame_Shift_Ins INS - - C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 16 4862228 4862229 - C INS GLYR1 ENST00000321919 human ensembl 69_37n -1 known frame_shift_ins c.1141_1140 p.R380fs 0.990:0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 73 0 0.00 129 16 11.03 - - - GPC6 0 genome.wustl.edu 37 13 94482640 94482640 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 13 94482640 94482640 G A SNP GPC6 ENST00000377047 human ensembl 69_37n +1 known missense c.553 p.D185N 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 181 0 0.00 135 61 31.12 - - - GPR162 0 genome.wustl.edu 37 12 6933549 6933549 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 12 6933549 6933549 G A SNP GPR162 ENST00000311268 human ensembl 69_37n +1 known missense c.485 p.R162H 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_162,prints_GPCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 36 0 0.00 25 8 23.53 - - - GSK3B 0 genome.wustl.edu 37 3 119585461 119585461 + Silent SNP T T G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 3 119585461 119585461 T G SNP GSK3B ENST00000316626 human ensembl 69_37n -1 known silent c.924 p.T308 1.000 pfam_Prot_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 GSK3B HGNC ENSG00000082701 207 0 0.00 199 66 24.81 - - - HEPH 0 genome.wustl.edu 37 X 65475997 65475997 + Missense_Mutation SNP C C G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a X 65475997 65475997 C G SNP HEPH ENST00000519389 human ensembl 69_37n +1 known missense c.2883 p.I961M 0.065 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 499 0 0.00 318 121 27.56 - - - KIAA0100 0 genome.wustl.edu 37 17 26961724 26961724 + Missense_Mutation SNP G G C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 17 26961724 26961724 G C SNP KIAA0100 ENST00000005905 human ensembl 69_37n -1 known missense c.2881 p.R961G 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 142 0 0.00 207 33 13.75 - - - LCT 0 genome.wustl.edu 37 2 136567537 136567537 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 136567537 136567537 G A SNP LCT ENST00000264162 human ensembl 69_37n -1 known missense c.2380 p.R794C 0.985 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 81 0 0.00 42 19 31.15 - - - LOXL3 0 genome.wustl.edu 37 2 74763923 74763924 + Frame_Shift_Ins INS - - C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 74763923 74763924 - C INS LOXL3 ENST00000264094 human ensembl 69_37n -1 known frame_shift_ins c.825_824 p.A277fs 0.118:0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 108 0 0.00 98 12 10.91 - - - MAPRE3 0 genome.wustl.edu 37 2 27248516 27248517 + Frame_Shift_Ins INS - - C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 27248516 27248517 - C INS MAPRE3 ENST00000233121 human ensembl 69_37n +1 known frame_shift_ins c.535_536 p.C182fs 0.999:1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 94 0 0.00 107 22 17.05 - - - MUC7 0 genome.wustl.edu 37 4 71346600 71346600 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 4 71346600 71346600 C T SNP MUC7 ENST00000304887 human ensembl 69_37n +1 known missense c.139 p.H47Y 0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 376 0 0.00 513 92 15.21 - - - NBAS 0 genome.wustl.edu 37 2 15374721 15374721 + Missense_Mutation SNP A A T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 15374721 15374721 A T SNP NBAS ENST00000281513 human ensembl 69_37n -1 known missense c.6094 p.S2032T 0.680 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 106 0 0.00 60 22 26.83 - - - NEUROD1 0 genome.wustl.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 182542971 182542972 - G INS NEUROD1 ENST00000295108 human ensembl 69_37n -1 known frame_shift_ins c.617_616 p.H206fs 0.999:0.996 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd - no_errors NEUROD1 HGNC ENSG00000162992 79 0 0.00 131 17 11.49 - - - NFRKB 0 genome.wustl.edu 37 11 129754709 129754709 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 11 129754709 129754709 G A SNP NFRKB ENST00000524794 human ensembl 69_37n -1 known missense c.748 p.R250C 0.920 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 165 0 0.00 133 26 16.35 - - - NOS1 0 genome.wustl.edu 37 12 117723955 117723955 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 12 117723955 117723955 C T SNP NOS1 ENST00000317775 human ensembl 69_37n -1 known missense c.1244 p.R415Q 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 544 0 0.00 141 54 27.69 - - - NRXN1 0 genome.wustl.edu 37 2 50464028 50464028 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 50464028 50464028 C T SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known missense c.3421 p.A1141T 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 238 0 0.00 150 52 25.74 - - - OR13C8 0 genome.wustl.edu 37 9 107331659 107331659 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 9 107331659 107331659 G A SNP OR13C8 ENST00000335040 human ensembl 69_37n +1 known missense c.211 p.V71I 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 930 1 0.11 174 216 55.38 - - - PCED1B 0 genome.wustl.edu 37 12 47630075 47630075 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 12 47630075 47630075 C T SNP PCED1B ENST00000432328 human ensembl 69_37n +1 known missense c.1229 p.T410M 0.000 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 72 0 0.00 34 35 50.72 - - - PLCG1 0 genome.wustl.edu 37 20 39802848 39802848 + Nonsense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 20 39802848 39802848 C T SNP PLCG1 ENST00000244007 human ensembl 69_37n +1 known nonsense c.3730 p.R1244* 0.999 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 70 0 0.00 50 17 25.37 - - - PLD4 0 genome.wustl.edu 37 14 105396393 105396393 + Frame_Shift_Del DEL G G - TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 14 105396393 105396393 G - DEL PLD4 ENST00000392593 human ensembl 69_37n +1 known frame_shift_del c.668 p.H224fs 0.765 pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 159 0 0.00 16 2 11.11 - - - PLXND1 0 genome.wustl.edu 37 3 129303234 129303235 + Frame_Shift_Ins INS - - G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 3 129303234 129303235 - G INS PLXND1 ENST00000324093 human ensembl 69_37n -1 known frame_shift_ins c.2023_2022 p.N674fs 0.000:0.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXND1 HGNC ENSG00000004399 44 0 0.00 24 4 14.29 - - - PTPRCAP 0 genome.wustl.edu 37 11 67203502 67203502 + Frame_Shift_Del DEL T T - TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 11 67203502 67203502 T - DEL PTPRCAP ENST00000326294 human ensembl 69_37n -1 known frame_shift_del c.323 p.E108fs 0.876 pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP - no_errors PTPRCAP HGNC ENSG00000213402 68 0 0.00 15 2 11.76 - - - QSOX2 0 genome.wustl.edu 37 9 139110971 139110971 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 9 139110971 139110971 C T SNP QSOX2 ENST00000455222 human ensembl 69_37n -1 novel missense c.163 p.V55I 1.000 NULL pfam_Evr1_Alr,superfamily_Evr1_Alr - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region QSOX2 HGNC ENSG00000165661 215 0 0.00 31 16 34.04 - - - RB1 0 genome.wustl.edu 37 13 48955538 48955538 + Nonsense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 13 48955538 48955538 C T SNP RB1 ENST00000267163 human ensembl 69_37n +1 known nonsense c.1654 p.R552* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 177 0 0.00 41 90 68.70 - - - RFX1 0 genome.wustl.edu 37 19 14073674 14073674 + Nonsense_Mutation SNP C C A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 19 14073674 14073674 C A SNP RFX1 ENST00000254325 human ensembl 69_37n -1 known nonsense c.2773 p.E925* 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 12 0 0.00 3 5 62.50 - - - RIPK1 0 genome.wustl.edu 37 6 3077011 3077012 + RNA INS - - G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 6 3077011 3077012 - G INS RIPK1 ENST00000490396 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors RIPK1 HGNC ENSG00000137275 50 0 0.00 90 11 10.89 - - - RREB1 0 genome.wustl.edu 37 6 7211929 7211929 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 6 7211929 7211929 G A SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known missense c.694 p.D232N 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 201 0 0.00 125 29 18.83 - - - SETDB1 0 genome.wustl.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 1 150917623 150917624 - G INS SETDB1 ENST00000368962 human ensembl 69_37n +1 known frame_shift_ins c.1179_1180 p.T396fs 0.000:0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 170 0 0.00 203 24 10.57 - - - SFMBT1 0 genome.wustl.edu 37 3 52977509 52977509 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 3 52977509 52977509 G A SNP SFMBT1 ENST00000358080 human ensembl 69_37n -1 known missense c.224 p.T75I 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 155 1 0.64 100 43 30.07 - - - SH2B1 0 genome.wustl.edu 37 16 28878058 28878058 + Missense_Mutation SNP A A G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 16 28878058 28878058 A G SNP SH2B1 ENST00000322610 human ensembl 69_37n +1 known missense c.643 p.S215G 0.006 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2 - no_errors SH2B1 HGNC ENSG00000178188 90 0 0.00 61 12 16.44 - - - SIGLEC1 0 genome.wustl.edu 37 20 3683872 3683872 + Silent SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 20 3683872 3683872 G A SNP SIGLEC1 ENST00000344754 human ensembl 69_37n -1 known silent c.1200 p.R400 0.635 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 79 0 0.00 42 20 32.26 - - - STRN 0 genome.wustl.edu 37 2 37085129 37085129 + Silent SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 37085129 37085129 C T SNP STRN ENST00000263918 human ensembl 69_37n -1 known silent c.1707 p.T569 0.070 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN HGNC ENSG00000115808 130 0 0.00 125 36 22.36 - - - SUOX 0 genome.wustl.edu 37 12 56397811 56397813 + In_Frame_Del DEL TCT TCT - TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 12 56397811 56397813 TCT - DEL SUOX ENST00000266971 human ensembl 69_37n +1 known in_frame_del c.638_640 p.F215in_frame_del 1.000:0.991:1.000 superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC ENSG00000139531 410 0 0.00 118 21 15.00 - - - TATDN1 0 genome.wustl.edu 37 8 125506171 125506171 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 8 125506171 125506171 G A SNP TATDN1 ENST00000276692 human ensembl 69_37n -1 known missense c.694 p.H232Y 1.000 pfam_TatD_superfamily,pirsf_DNase_TatD pfam_TatD_superfamily,pirsf_DNase_TatD - no_errors TATDN1 HGNC ENSG00000147687 485 0 0.00 404 55 11.96 - - - TEKT2 0 genome.wustl.edu 37 1 36553575 36553575 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 1 36553575 36553575 G A SNP TEKT2 ENST00000207457 human ensembl 69_37n +1 known missense c.1081 p.D361N 0.997 pfam_Tektin,superfamily_Prefoldin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 26 0 0.00 14 4 22.22 - - - TOP3A 0 genome.wustl.edu 37 17 18181544 18181545 + Frame_Shift_Ins INS - - G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 17 18181544 18181545 - G INS TOP3A ENST00000321105 human ensembl 69_37n -1 known frame_shift_ins c.2272_2271 p.R757fs 0.001:0.001 NULL pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 49 0 0.00 21 3 12.50 - - - TP53 0 genome.wustl.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 17 7578413 7578413 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.517 p.V173M 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 111 0 0.00 26 138 84.15 - - - TSC22D1 0 genome.wustl.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 13 45148691 45148693 TGT - DEL TSC22D1 ENST00000458659 human ensembl 69_37n -1 known in_frame_del c.1520_1518 p.Q509in_frame_del 0.003:0.003:0.004 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 68 0 0.00 17 2 10.53 - - - TTC22 0 genome.wustl.edu 37 1 55253434 55253434 + Missense_Mutation SNP G G A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 1 55253434 55253434 G A SNP TTC22 ENST00000371276 human ensembl 69_37n -1 known missense c.689 p.T230M 0.976 NULL smart_TPR_repeat - no_errors TTC22 HGNC ENSG00000006555 86 0 0.00 120 31 20.53 - - - VWA3B 0 genome.wustl.edu 37 2 98928506 98928507 + Frame_Shift_Ins INS - - G TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 2 98928506 98928507 - G INS VWA3B ENST00000473149 human ensembl 69_37n +1 putative frame_shift_ins c.1977_1978 p.T662fs 0.000:0.004 NULL pfscan_VWF_A - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VWA3B HGNC ENSG00000168658 30 0 0.00 37 6 13.95 - - - WDR5 0 genome.wustl.edu 37 9 137019597 137019598 + Frame_Shift_Ins INS - - C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 9 137019597 137019598 - C INS WDR5 ENST00000358625 human ensembl 69_37n +1 known frame_shift_ins c.641_642 p.V217fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR5 HGNC ENSG00000196363 228 0 0.00 54 6 10.00 - - - ZNF33A 0 genome.wustl.edu 37 10 38343498 38343498 + Missense_Mutation SNP T T C TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 10 38343498 38343498 T C SNP ZNF33A ENST00000432900 human ensembl 69_37n +1 known missense c.464 p.F155S 0.027 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 ZNF33A HGNC ENSG00000189180 145 0 0.00 86 44 33.85 - - - ZNF501 0 genome.wustl.edu 37 3 44776097 44776097 + Missense_Mutation SNP C C A TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6a8bd08-0e60-442d-adce-de020177f82c aa5cbdd2-e1f7-4d59-962a-3362278d401a 3 44776097 44776097 C A SNP ZNF501 ENST00000396048 human ensembl 69_37n +1 known missense c.184 p.Q62K 0.006 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 346 0 0.00 213 81 27.55 - - -