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 ADAMTS13 0 genome.wustl.edu 37 9 136291344 136291344 + Missense_Mutation SNP A A T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 9 136291344 136291344 A T SNP ADAMTS13 ENST00000371929 human ensembl 69_37n +1 known missense c.565 p.N189Y 0.991 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 36 0 0.00 38 9 19.15 - - - ATP13A4 0 genome.wustl.edu 37 3 193220428 193220428 + Missense_Mutation SNP C C A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 3 193220428 193220428 C A SNP ATP13A4 ENST00000342695 human ensembl 69_37n -1 known missense c.235 p.D79Y 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 44 0 0.00 21 42 66.67 - - - C16orf85 0 genome.wustl.edu 37 16 88620345 88620345 + Silent SNP A A C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 16 88620345 88620345 A C SNP C16orf85 ENST00000378416 human ensembl 69_37n -1 known silent c.285 p.R95 0.001 NULL NULL - no_errors C16orf85 HGNC ENSG00000205036 26 0 0.00 46 7 13.21 - - - COL18A1 0 genome.wustl.edu 37 21 46875483 46875483 + Silent SNP G G A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 21 46875483 46875483 G A SNP COL18A1 ENST00000359759 human ensembl 69_37n +1 known silent c.39 p.L13 0.999 pfam_DUF959_COL18_N pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 25 0 0.00 20 9 30.00 - - - COL4A4 0 genome.wustl.edu 37 2 227979409 227979409 + Missense_Mutation SNP G G A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 2 227979409 227979409 G A SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known missense c.493 p.H165Y 0.846 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 81 0 0.00 74 21 22.11 - - - CROCCP2 0 genome.wustl.edu 37 1 16950261 16950261 + RNA SNP G G C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 1 16950261 16950261 G C SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.687 - - - no_errors CROCCP2 HGNC ENSG00000215908 15 0 0.00 12 7 36.84 - - - CXorf40A 0 genome.wustl.edu 37 X 148628334 148628334 + Silent SNP C C G TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 X 148628334 148628334 C G SNP CXorf40A ENST00000359293 human ensembl 69_37n +1 known silent c.303 p.P101 0.000 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40A HGNC ENSG00000197620 84 0 0.00 87 32 26.89 - - - DEFB131 0 genome.wustl.edu 37 4 9446286 9446286 + Silent SNP A A C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 4 9446286 9446286 A C SNP DEFB131 ENST00000334879 human ensembl 69_37n +1 known silent c.27 p.G9 0.021 NULL NULL - no_errors DEFB131 HGNC ENSG00000186146 120 0 0.00 84 40 32.26 - - - DNAH11 0 genome.wustl.edu 37 7 21698446 21698446 + Missense_Mutation SNP A A C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 7 21698446 21698446 A C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.5140 p.T1714P 0.863 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 41 0 0.00 39 16 29.09 - - - DNAH12 0 genome.wustl.edu 37 3 57388140 57388140 + Missense_Mutation SNP G G A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 3 57388140 57388140 G A SNP DNAH12 ENST00000351747 human ensembl 69_37n -1 known missense c.6908 p.P2303L 0.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 43 0 0.00 36 21 36.84 - - - ERCC6L 0 genome.wustl.edu 37 X 71426994 71426994 + Silent SNP G G A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 X 71426994 71426994 G A SNP ERCC6L ENST00000334463 human ensembl 69_37n -1 known silent c.1623 p.V541 0.960 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 46 0 0.00 32 20 38.46 - - - GINS3 0 genome.wustl.edu 37 16 58438557 58438557 + Missense_Mutation SNP G G T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 16 58438557 58438557 G T SNP GINS3 ENST00000426538 human ensembl 69_37n +1 known missense c.692 p.G231V 1.000 NULL pfam_GINS_complex - no_errors GINS3 HGNC ENSG00000181938 44 0 0.00 45 17 27.42 - - - GPR148 0 genome.wustl.edu 37 2 131486925 131486925 + Frame_Shift_Del DEL C C - TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 2 131486925 131486925 C - DEL GPR148 ENST00000309926 human ensembl 69_37n +1 known frame_shift_del c.201 p.L69fs 0.992 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR148 HGNC ENSG00000173302 29 0 0.00 36 10 21.74 - - - IDE 0 genome.wustl.edu 37 10 94235707 94235707 + Missense_Mutation SNP C C G TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 10 94235707 94235707 C G SNP IDE ENST00000265986 human ensembl 69_37n -1 known missense c.1929 p.K643N 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 45 0 0.00 52 10 15.62 - - - IKBKAP 0 genome.wustl.edu 37 9 111674571 111674572 + Frame_Shift_Del DEL AG AG - TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 9 111674571 111674572 AG - DEL IKBKAP ENST00000374647 human ensembl 69_37n -1 known frame_shift_del c.1162_1161 p.L388fs 0.949:1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 21 0 0.00 19 10 34.48 - - - INHA 0 genome.wustl.edu 37 2 220437229 220437229 + Missense_Mutation SNP G G A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 2 220437229 220437229 G A SNP INHA ENST00000243786 human ensembl 69_37n +1 known missense c.133 p.A45T 0.000 pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 14 0 0.00 14 10 41.67 - - - LAP3 0 genome.wustl.edu 37 4 17585198 17585198 + Missense_Mutation SNP G G C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 4 17585198 17585198 G C SNP LAP3 ENST00000226299 human ensembl 69_37n +1 known missense c.472 p.G158R 0.999 pfam_Peptidase_M17_N pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17 - no_errors LAP3 HGNC ENSG00000002549 61 0 0.00 51 29 36.25 - - - MANEA 0 genome.wustl.edu 37 6 96053674 96053674 + Missense_Mutation SNP C C T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 6 96053674 96053674 C T SNP MANEA ENST00000358812 human ensembl 69_37n +1 known missense c.782 p.A261V 0.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 84 0 0.00 93 16 14.68 - - - MAP4K1 0 genome.wustl.edu 37 19 39087977 39087977 + Missense_Mutation SNP G G A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 19 39087977 39087977 G A SNP MAP4K1 ENST00000591517 human ensembl 69_37n -1 known missense c.1826 p.A609V 0.039 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 24 0 0.00 42 10 19.23 - - - MED20 0 genome.wustl.edu 37 6 41874991 41874991 + Missense_Mutation SNP C C T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 6 41874991 41874991 C T SNP MED20 ENST00000265350 human ensembl 69_37n -1 known missense c.458 p.C153Y 1.000 pfam_Mediator_Med20 pfam_Mediator_Med20 - no_errors MED20 HGNC ENSG00000124641 33 0 0.00 47 8 14.55 - - - MYH8 0 genome.wustl.edu 37 17 10318441 10318441 + Missense_Mutation SNP A A G TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 17 10318441 10318441 A G SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.797 p.I266T 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 78 0 0.00 39 21 35.00 - - - MYO3A 0 genome.wustl.edu 37 10 26459429 26459429 + Missense_Mutation SNP A A C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 10 26459429 26459429 A C SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known missense c.3359 p.D1120A 0.056 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 46 0 0.00 45 10 18.18 - - - NEK5 0 genome.wustl.edu 37 13 52693487 52693487 + Missense_Mutation SNP G G A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 13 52693487 52693487 G A SNP NEK5 ENST00000355568 human ensembl 69_37n -1 known missense c.182 p.P61L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 97 0 0.00 33 31 48.44 - - - NFXL1 0 genome.wustl.edu 37 4 47877233 47877233 + Missense_Mutation SNP C C A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 4 47877233 47877233 C A SNP NFXL1 ENST00000381538 human ensembl 69_37n -1 known missense c.2157 p.L719F 1.000 smart_Znf_NFX1 pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 74 0 0.00 50 10 16.67 - - - NLK 0 genome.wustl.edu 37 17 26370124 26370124 + Silent SNP C C T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 17 26370124 26370124 C T SNP NLK ENST00000407008 human ensembl 69_37n +1 known silent c.225 p.A75 1.000 NULL 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 NLK HGNC ENSG00000087095 54 0 0.00 29 13 30.95 - - - PCNXL2 0 genome.wustl.edu 37 1 233190018 233190018 + Missense_Mutation SNP G G T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 1 233190018 233190018 G T SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.4347 p.F1449L 1.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 36 0 0.00 29 4 12.12 - - - PDE3A 0 genome.wustl.edu 37 12 20801709 20801709 + Missense_Mutation SNP T T A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 12 20801709 20801709 T A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known missense c.2653 p.F885I 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 71 0 0.00 64 52 44.83 - - - PLXNB1 0 genome.wustl.edu 37 3 48459737 48459737 + Missense_Mutation SNP A A T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 3 48459737 48459737 A T SNP PLXNB1 ENST00000296440 human ensembl 69_37n -1 known missense c.3085 p.C1029S 1.000 superfamily_Plexin-like_fold,smart_Plexin-like 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 PLXNB1 HGNC ENSG00000164050 22 0 0.00 0 10 100.00 - - - PTPRB 0 genome.wustl.edu 37 12 70946687 70946687 + Nonsense_Mutation SNP C C A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 12 70946687 70946687 C A SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known nonsense c.5257 p.E1753* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 69 0 0.00 71 27 27.55 - - - RBBP4 0 genome.wustl.edu 37 1 33117549 33117549 + Silent SNP C C T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 1 33117549 33117549 C T SNP RBBP4 ENST00000373493 human ensembl 69_37n +1 known silent c.51 p.I17 1.000 NULL pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 57 0 0.00 94 23 19.66 - - - RGPD3 0 genome.wustl.edu 37 2 107032319 107032319 + Missense_Mutation SNP A A T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 2 107032319 107032319 A T SNP RGPD3 ENST00000304514 human ensembl 69_37n -1 known missense c.5051 p.M1684K 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 165 0 0.00 169 54 24.22 - - - SCN1A 0 genome.wustl.edu 37 2 166909415 166909415 + Missense_Mutation SNP G G T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 2 166909415 166909415 G T SNP SCN1A ENST00000303395 human ensembl 69_37n -1 known missense c.641 p.A214E 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 44 0 0.00 67 17 20.24 - - - SKIL 0 genome.wustl.edu 37 3 170078924 170078924 + Missense_Mutation SNP C C G TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 3 170078924 170078924 C G SNP SKIL ENST00000259119 human ensembl 69_37n +1 known missense c.805 p.L269V 0.932 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 68 0 0.00 62 26 29.55 - - - STOX1 0 genome.wustl.edu 37 10 70644582 70644582 + Missense_Mutation SNP G G C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 10 70644582 70644582 G C SNP STOX1 ENST00000298596 human ensembl 69_37n +1 known missense c.1030 p.V344L 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 43 0 0.00 49 13 20.97 - - - TPTE 0 genome.wustl.edu 37 21 10951293 10951293 + Missense_Mutation SNP T T C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 21 10951293 10951293 T C SNP TPTE ENST00000361285 human ensembl 69_37n -1 known missense c.419 p.D140G 0.997 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 57 0 0.00 59 16 21.33 - - - TTC7A 0 genome.wustl.edu 37 2 47202156 47202156 + Missense_Mutation SNP C C T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 2 47202156 47202156 C T SNP TTC7A ENST00000319190 human ensembl 69_37n +1 known missense c.562 p.R188C 0.995 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 30 0 0.00 18 12 40.00 - - - TTN 0 genome.wustl.edu 37 2 179448488 179448488 + Missense_Mutation SNP G G C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 2 179448488 179448488 G C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.57717 p.C19239W 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 - no_errors TTN HGNC ENSG00000155657 40 0 0.00 52 16 23.53 - - - ZNF425 0 genome.wustl.edu 37 7 148801215 148801215 + Missense_Mutation SNP G G T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 7 148801215 148801215 G T SNP ZNF425 ENST00000378061 human ensembl 69_37n -1 known missense c.1748 p.A583E 0.000 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 18 0 0.00 9 10 52.63 - - - ZNF425 0 genome.wustl.edu 37 7 148802311 148802311 + Missense_Mutation SNP A A C TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 7 148802311 148802311 A C SNP ZNF425 ENST00000378061 human ensembl 69_37n -1 known missense c.652 p.C218G 0.000 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 57 0 0.00 42 19 31.15 - - - ZNF496 0 genome.wustl.edu 37 1 247492666 247492666 + Missense_Mutation SNP C C A TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c11f2060-d3fb-4e3d-8058-b8cce44af519 e7976863-3bbf-42ac-b272-ccd7ca5bf679 1 247492666 247492666 C A SNP ZNF496 ENST00000366498 human ensembl 69_37n -1 known missense c.215 p.R72L 0.677 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 37 0 0.00 25 11 30.56 - - -