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 ACTR5 0 genome.wustl.edu 37 20 37400366 37400366 + Silent SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 20 37400366 37400366 C T SNP ACTR5 ENST00000243903 human ensembl 69_37n +1 known silent c.1731 p.I577 1.000 NULL pfam_Actin-like,smart_Actin-like - no_errors ACTR5 HGNC ENSG00000101442 89 0 0.00 39 22 36.07 - - - ATXN3L 0 genome.wustl.edu 37 X 13337899 13337899 + Missense_Mutation SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b X 13337899 13337899 C T SNP ATXN3L ENST00000380622 human ensembl 69_37n -1 known missense c.155 p.G52E 0.999 pfam_Josephin,pfscan_Josephin,prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC ENSG00000123594 67 0 0.00 30 27 47.37 - - - C11orf95 0 genome.wustl.edu 37 11 63533672 63533672 + RNA SNP C C A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 11 63533672 63533672 C A SNP C11orf95 ENST00000433688 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors C11orf95 HGNC ENSG00000188070 63 0 0.00 33 14 29.79 - - - C20orf27 0 genome.wustl.edu 37 20 3736174 3736174 + Missense_Mutation SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 20 3736174 3736174 G A SNP C20orf27 ENST00000399683 human ensembl 69_37n -1 known missense c.224 p.A75V 0.038 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C20orf27 HGNC ENSG00000101220 80 0 0.00 38 12 24.00 - - - CACNA1G 0 genome.wustl.edu 37 17 48701409 48701409 + Missense_Mutation SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 17 48701409 48701409 G A SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known missense c.6202 p.G2068S 0.002 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 72 0 0.00 25 15 37.50 - - - CACNA2D3 0 genome.wustl.edu 37 3 54604012 54604012 + Missense_Mutation SNP G G T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 3 54604012 54604012 G T SNP CACNA2D3 ENST00000288197 human ensembl 69_37n +1 known missense c.769 p.V257L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 42 0 0.00 34 4 10.53 - - - CDH23 0 genome.wustl.edu 37 10 73545397 73545397 + Missense_Mutation SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 10 73545397 73545397 G A SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known missense c.5731 p.V1911I 0.655 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 37 0 0.00 19 7 26.92 - - - CFHR3 0 genome.wustl.edu 37 1 196748946 196748946 + Frame_Shift_Del DEL T T - TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 1 196748946 196748946 T - DEL CFHR3 ENST00000367425 human ensembl 69_37n +1 known frame_shift_del c.273 p.L92fs 0.002 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 CFHR3 HGNC ENSG00000116785 47 0 0.00 60 8 11.76 - - - COPA 0 genome.wustl.edu 37 1 160280027 160280027 + Silent SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 1 160280027 160280027 G A SNP COPA ENST00000368069 human ensembl 69_37n -1 known silent c.1098 p.F366 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPA HGNC ENSG00000122218 43 0 0.00 39 14 26.42 - - - COPA 0 genome.wustl.edu 37 1 160280035 160280035 + Missense_Mutation SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 1 160280035 160280035 G A SNP COPA ENST00000368069 human ensembl 69_37n -1 known missense c.1090 p.P364S 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPA HGNC ENSG00000122218 40 0 0.00 40 13 24.53 - - - DOM3Z 0 genome.wustl.edu 37 6 31938577 31938577 + Missense_Mutation SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 6 31938577 31938577 G A SNP DOM3Z ENST00000495340 human ensembl 69_37n -1 novel missense c.38 p.P13L 0.062 NULL pfam_RAI1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOM3Z HGNC ENSG00000204348 38 0 0.00 30 8 21.05 - - - ERCC8 0 genome.wustl.edu 37 5 60170337 60170337 + RNA SNP A A G TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 5 60170337 60170337 A G SNP ERCC8 ENST00000462279 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ERCC8 HGNC ENSG00000049167 59 0 0.00 29 4 12.12 - - - FAM195B 0 genome.wustl.edu 37 17 79781072 79781072 + RNA SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 17 79781072 79781072 C T SNP FAM195B ENST00000575090 human ensembl 69_37n -1 putative rna NULL NULL 0.025 - - - no_errors FAM195B HGNC ENSG00000225663 106 1 0.92 30 18 37.50 - - - LCT 0 genome.wustl.edu 37 2 136570331 136570331 + Missense_Mutation SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 2 136570331 136570331 C T SNP LCT ENST00000264162 human ensembl 69_37n -1 known missense c.1903 p.V635I 0.722 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 117 0 0.00 52 38 42.22 - - - LGI1 0 genome.wustl.edu 37 10 95557106 95557106 + Missense_Mutation SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 10 95557106 95557106 G A SNP LGI1 ENST00000371418 human ensembl 69_37n +1 known missense c.1220 p.R407H 1.000 pfam_EPTP,superfamily_WD40_repeat_dom pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 27 0 0.00 12 11 47.83 - - - MUC19 0 genome.wustl.edu 37 12 40805978 40805978 + Missense_Mutation SNP C C A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 12 40805978 40805978 C A SNP MUC19 ENST00000425730 human ensembl 69_37n +1 novel missense c.250 p.P84T 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_VWC_out,smart_Unchr_dom_Cys-rich - no_stop_codon:bad_bp_length_for_coding_region MUC19 HGNC ENSG00000205592 48 0 0.00 23 6 20.69 - - - NASP 0 genome.wustl.edu 37 1 46066130 46066130 + Splice_Site SNP G G T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 1 46066130 46066130 G T SNP NASP ENST00000402363 human ensembl 69_37n +1 known splice_site c.113+1 e2+1 0.896 - - - no_errors NASP HGNC ENSG00000132780 50 0 0.00 28 4 12.50 - - - NAV1 0 genome.wustl.edu 37 1 201751394 201751394 + Missense_Mutation SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 1 201751394 201751394 G A SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.1754 p.R585H 0.994 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 99 0 0.00 84 11 11.46 - - - PHF8 0 genome.wustl.edu 37 X 54069225 54069225 + Silent SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b X 54069225 54069225 C T SNP PHF8 ENST00000357988 human ensembl 69_37n -1 known silent c.45 p.P15 0.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 142 0 0.00 102 31 23.13 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 20 0 0.00 19 16 45.71 - - - PLCH1 0 genome.wustl.edu 37 3 155311894 155311894 + Silent SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 3 155311894 155311894 G A SNP PLCH1 ENST00000340059 human ensembl 69_37n -1 known silent c.270 p.D90 0.982 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 94 0 0.00 33 25 43.10 - - - POFUT2 0 genome.wustl.edu 37 21 46687385 46687385 + Missense_Mutation SNP G G T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 21 46687385 46687385 G T SNP POFUT2 ENST00000331343 human ensembl 69_37n -1 known missense c.1256 p.T419N 0.003 NULL pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 45 0 0.00 35 4 10.26 - - - PTEN 0 genome.wustl.edu 37 10 89692868 89692868 + Frame_Shift_Del DEL C C - TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 10 89692868 89692868 C - DEL PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_del c.352 p.H118fs 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 132 0 0.00 73 10 11.11 - - - RABEP1 0 genome.wustl.edu 37 17 5266230 5266232 + In_Frame_Del DEL TGG TGG - TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 17 5266230 5266232 TGG - DEL RABEP1 ENST00000262477 human ensembl 69_37n +1 known in_frame_del c.1587_1589 p.G530in_frame_del 1.000:1.000:1.000 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 89 0 0.00 52 16 23.19 - - - ROCK1P1 0 genome.wustl.edu 37 18 117294 117294 + RNA SNP T T C TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 18 117294 117294 T C SNP ROCK1P1 ENST00000576266 human ensembl 69_37n +1 known rna NULL NULL 0.992 - - - no_errors ROCK1P1 HGNC ENSG00000263006 53 0 0.00 42 14 25.00 - - - SF1 0 genome.wustl.edu 37 11 64533497 64533497 + Missense_Mutation SNP G G A TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 11 64533497 64533497 G A SNP SF1 ENST00000486867 human ensembl 69_37n -1 putative missense c.871 p.R291W 1.000 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region SF1 HGNC ENSG00000168066 18 0 0.00 6 6 50.00 - - - SLC2A3 0 genome.wustl.edu 37 12 8074173 8074173 + Silent SNP A A G TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 12 8074173 8074173 A G SNP SLC2A3 ENST00000075120 human ensembl 69_37n -1 known silent c.1327 p.L443 0.998 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 47 0 0.00 42 6 12.50 - - - SPEG 0 genome.wustl.edu 37 2 220353572 220353572 + Missense_Mutation SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 2 220353572 220353572 C T SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.8099 p.P2700L 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 - no_errors SPEG HGNC ENSG00000072195 144 0 0.00 48 42 46.67 - - - UNC79 0 genome.wustl.edu 37 14 93962758 93962758 + Silent SNP G G T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 14 93962758 93962758 G T SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known silent c.714 p.V238 0.987 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 33 0 0.00 23 3 11.54 - - - USF1 0 genome.wustl.edu 37 1 161009775 161009775 + Missense_Mutation SNP G G C TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 1 161009775 161009775 G C SNP USF1 ENST00000368020 human ensembl 69_37n -1 known missense c.868 p.L290V 0.997 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors USF1 HGNC ENSG00000158773 81 0 0.00 70 14 16.67 - - - USP32 0 genome.wustl.edu 37 17 58289418 58289418 + Missense_Mutation SNP T T C TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 17 58289418 58289418 T C SNP USP32 ENST00000300896 human ensembl 69_37n -1 known missense c.2146 p.I716V 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 86 0 0.00 48 26 35.14 - - - USP34 0 genome.wustl.edu 37 2 61472411 61472411 + Missense_Mutation SNP A A T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 2 61472411 61472411 A T SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.6561 p.N2187K 1.000 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 56 0 0.00 43 9 17.31 - - - VTCN1 0 genome.wustl.edu 37 1 117695947 117695947 + Missense_Mutation SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 1 117695947 117695947 C T SNP VTCN1 ENST00000359008 human ensembl 69_37n -1 known missense c.499 p.E167K 0.993 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors VTCN1 HGNC ENSG00000134258 57 0 0.00 22 12 35.29 - - - ZFP3 0 genome.wustl.edu 37 17 4995115 4995115 + Nonsense_Mutation SNP G G T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 17 4995115 4995115 G T SNP ZFP3 ENST00000318833 human ensembl 69_37n +1 known nonsense c.316 p.G106* 0.336 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP3 HGNC ENSG00000180787 55 0 0.00 29 4 12.12 - - - ZNF229 0 genome.wustl.edu 37 19 44933891 44933891 + Silent SNP T T C TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6fecea7a-e8f4-4d95-bcd6-52cf363104e7 aee3b032-58c1-4ba5-ae5f-9008ca914a5b 19 44933891 44933891 T C SNP ZNF229 ENST00000588931 human ensembl 69_37n -1 known silent c.1065 p.G355 0.979 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 ZNF229 HGNC ENSG00000167383 81 0 0.00 25 14 35.90 - - -