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 ACLY 0 genome.wustl.edu 37 17 40054937 40054937 + Missense_Mutation SNP G G T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 17 40054937 40054937 G T SNP ACLY ENST00000352035 human ensembl 69_37n -1 known missense c.1285 p.P429T 1.000 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 75 0 0.00 78 45 36.59 - - - ARID1A 0 genome.wustl.edu 37 1 27057874 27057874 + Nonsense_Mutation SNP C C T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 1 27057874 27057874 C T SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known nonsense c.1582 p.Q528* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 90 0 0.00 48 44 47.83 - - - C12orf74 0 genome.wustl.edu 37 12 93100574 93100574 + Frame_Shift_Del DEL C C - TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 12 93100574 93100574 C - DEL C12orf74 ENST00000397833 human ensembl 69_37n +1 known frame_shift_del c.167 p.R57fs 0.224 NULL NULL - no_errors C12orf74 HGNC ENSG00000214215 25 0 0.00 33 30 47.62 - - - C1orf170 0 genome.wustl.edu 37 1 914764 914765 + Frame_Shift_Ins INS - - G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 1 914764 914765 - G INS C1orf170 ENST00000433179 human ensembl 69_37n -1 known frame_shift_ins c.1364_1363 p.R455fs 0.032:0.262 NULL NULL - no_errors C1orf170 HGNC ENSG00000187642 21 0 0.00 24 10 29.41 - - - C2CD3 0 genome.wustl.edu 37 11 73785550 73785550 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 11 73785550 73785550 G A SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known missense c.4699 p.P1567S 0.171 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 67 0 0.00 1423 181 11.28 - - - CABIN1 0 genome.wustl.edu 37 22 24432554 24432554 + Missense_Mutation SNP A A C TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 22 24432554 24432554 A C SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known missense c.21 p.L7F 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 62 0 0.00 66 55 45.45 - - - CDH1 0 genome.wustl.edu 37 16 68855995 68855996 + Frame_Shift_Ins INS - - T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 16 68855995 68855996 - T INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.1803_1804 p.C602fs 0.000:0.327 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 61 0 0.00 30 34 53.12 - - - CEP152 0 genome.wustl.edu 37 15 49048645 49048645 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 15 49048645 49048645 G A SNP CEP152 ENST00000380950 human ensembl 69_37n -1 known missense c.2800 p.L934F 0.999 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 41 0 0.00 26 19 42.22 - - - CNTNAP3 0 genome.wustl.edu 37 9 39178266 39178266 + Missense_Mutation SNP C C G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 9 39178266 39178266 C G SNP CNTNAP3 ENST00000297668 human ensembl 69_37n -1 known missense c.630 p.L210F 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 114 0 0.00 90 33 26.83 - - - CNTRL 0 genome.wustl.edu 37 9 123929866 123929866 + Nonsense_Mutation SNP C C T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 9 123929866 123929866 C T SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known nonsense c.5755 p.Q1919* 0.998 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 41 0 0.00 43 18 29.51 - - - DDN 0 genome.wustl.edu 37 12 49390678 49390678 + Missense_Mutation SNP C C T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 12 49390678 49390678 C T SNP DDN ENST00000421952 human ensembl 69_37n -1 known missense c.1981 p.E661K 0.000 NULL NULL - no_errors DDN HGNC ENSG00000181418 42 0 0.00 52 31 37.35 - - - FAT4 0 genome.wustl.edu 37 4 126237986 126237986 + Missense_Mutation SNP C C G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 4 126237986 126237986 C G SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.420 p.I140M 0.995 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 29 0 0.00 43 31 41.89 - - - FBXO16 0 genome.wustl.edu 37 8 28286174 28286174 + Missense_Mutation SNP T T G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 8 28286174 28286174 T G SNP FBXO16 ENST00000346498 human ensembl 69_37n -1 novel missense c.887 p.D296A 0.004 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO16 HGNC ENSG00000214050 26 0 0.00 28 4 12.50 - - - GLI4 0 genome.wustl.edu 37 8 144358399 144358399 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 8 144358399 144358399 G A SNP GLI4 ENST00000340042 human ensembl 69_37n +1 known missense c.556 p.E186K 0.075 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI4 HGNC ENSG00000250571 47 0 0.00 23 17 42.50 - - - GOLGA6L10 0 genome.wustl.edu 37 15 82635510 82635510 + Missense_Mutation SNP C C A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 15 82635510 82635510 C A SNP GOLGA6L10 ENST00000439287 human ensembl 69_37n -1 known missense c.1270 p.V424F 0.879 NULL NULL - no_errors GOLGA6L10 HGNC ENSG00000205281 12 0 0.00 4 3 42.86 - - - GTF2IRD2P1 0 genome.wustl.edu 37 7 72657797 72657797 + RNA SNP C C T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 7 72657797 72657797 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 69_37n -1 known rna NULL NULL 0.908 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 92 0 0.00 131 19 12.67 - - - HBBP1 0 genome.wustl.edu 37 11 5263362 5263362 + RNA SNP T T G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 11 5263362 5263362 T G SNP HBBP1 ENST00000454892 human ensembl 69_37n -1 known rna NULL NULL 0.906 - - - no_errors HBBP1 HGNC ENSG00000229988 38 0 0.00 24 17 41.46 - - - HILS1 0 genome.wustl.edu 37 17 48258285 48258285 + RNA SNP A A G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 17 48258285 48258285 A G SNP HILS1 ENST00000504307 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors HILS1 HGNC ENSG00000188662 33 0 0.00 48 6 11.11 - - - IFT27 0 genome.wustl.edu 37 22 37172131 37172131 + RNA SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 22 37172131 37172131 G A SNP IFT27 ENST00000476548 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors IFT27 HGNC ENSG00000100360 34 0 0.00 28 4 12.50 - - - JMJD1C 0 genome.wustl.edu 37 10 64974188 64974188 + Missense_Mutation SNP G G C TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 10 64974188 64974188 G C SNP JMJD1C ENST00000399262 human ensembl 69_37n -1 known missense c.1739 p.T580R 0.556 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 25 0 0.00 19 29 60.42 - - - KCNT2 0 genome.wustl.edu 37 1 196342320 196342320 + Missense_Mutation SNP G G C TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 1 196342320 196342320 G C SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known missense c.1353 p.C451W 1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 21 0 0.00 34 18 34.62 - - - MAP3K1 0 genome.wustl.edu 37 5 56177802 56177802 + Frame_Shift_Del DEL G G - TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 5 56177802 56177802 G - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.2775 p.D926fs 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 35 0 0.00 8 11 57.89 - - - MFAP4 0 genome.wustl.edu 37 17 19290122 19290123 + In_Frame_Ins INS - - AGC TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 17 19290122 19290123 - AGC INS MFAP4 ENST00000395592 human ensembl 69_37n -1 known in_frame_ins c.108_107 p.38in_frame_insL 0.022:0.253 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC ENSG00000166482 14 0 0.00 3 21 87.50 - - - MFGE8 0 genome.wustl.edu 37 15 89444793 89444793 + Nonsense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 15 89444793 89444793 G A SNP MFGE8 ENST00000268150 human ensembl 69_37n -1 known nonsense c.859 p.Q287* 0.973 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,smart_EGF-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC ENSG00000140545 57 0 0.00 50 36 41.86 - - - ODF2 0 genome.wustl.edu 37 9 131223278 131223278 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 9 131223278 131223278 G A SNP ODF2 ENST00000372796 human ensembl 69_37n +1 known missense c.181 p.V61M 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 35 0 0.00 24 13 35.14 - - - OR2L2 0 genome.wustl.edu 37 1 248201808 248201808 + Missense_Mutation SNP T T C TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 1 248201808 248201808 T C SNP OR2L2 ENST00000366479 human ensembl 69_37n +1 known missense c.239 p.M80T 0.004 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2L2 HGNC ENSG00000203663 177 0 0.00 202 83 29.12 - - - PCDHA13 0 genome.wustl.edu 37 5 140263790 140263790 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 5 140263790 140263790 G A SNP PCDHA13 ENST00000289272 human ensembl 69_37n +1 known missense c.1937 p.R646H 0.025 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 83 0 0.00 46 86 64.66 - - - PIK3CA 0 genome.wustl.edu 37 3 178948136 178948136 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 3 178948136 178948136 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2908 p.E970K 1.000 pfam_PI3/4_kinase_cat_dom,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 30 0 0.00 26 12 31.58 - - - PINK1 0 genome.wustl.edu 37 1 20977380 20977380 + RNA SNP T T C TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 1 20977380 20977380 T C SNP PINK1 ENST00000400490 human ensembl 69_37n +1 known rna NULL NULL 0.016 - - - no_errors PINK1 HGNC ENSG00000158828 10 0 0.00 13 7 35.00 - - - PRDM16 0 genome.wustl.edu 37 1 3328444 3328444 + Silent SNP C C T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 1 3328444 3328444 C T SNP PRDM16 ENST00000270722 human ensembl 69_37n +1 known silent c.1683 p.A561 0.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 45 0 0.00 70 14 16.67 - - - RBL2 0 genome.wustl.edu 37 16 53524699 53524699 + RNA SNP C C G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 16 53524699 53524699 C G SNP RBL2 ENST00000379935 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RBL2 HGNC ENSG00000103479 32 0 0.00 14 21 60.00 - - - SERTAD3 0 genome.wustl.edu 37 19 40947664 40947664 + Silent SNP C C T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 19 40947664 40947664 C T SNP SERTAD3 ENST00000322354 human ensembl 69_37n -1 known silent c.324 p.G108 0.227 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC ENSG00000167565 37 0 0.00 34 25 42.37 - - - SIK3 0 genome.wustl.edu 37 11 116827720 116827720 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 11 116827720 116827720 G A SNP SIK3 ENST00000375300 human ensembl 69_37n -1 known missense c.334 p.R112W 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SIK3 HGNC ENSG00000160584 39 0 0.00 11 6 35.29 - - - SLC22A1 0 genome.wustl.edu 37 6 160577016 160577016 + Missense_Mutation SNP G G T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 6 160577016 160577016 G T SNP SLC22A1 ENST00000366963 human ensembl 69_37n +1 known missense c.1508 p.G503V 0.795 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 82 0 0.00 64 18 21.69 - - - SNORA72 0 genome.wustl.edu 37 8 99054661 99054661 + RNA SNP C C A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 8 99054661 99054661 C A SNP SNORA72 ENST00000501016 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 9 0 0.00 2 4 66.67 - - - SNX25 0 genome.wustl.edu 37 4 186284580 186284580 + Silent SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 4 186284580 186284580 G A SNP SNX25 ENST00000264694 human ensembl 69_37n +1 known silent c.2484 p.L828 0.962 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC ENSG00000109762 45 0 0.00 40 29 42.03 - - - SPEG 0 genome.wustl.edu 37 2 220312892 220312892 + Missense_Mutation SNP C C G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 2 220312892 220312892 C G SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.1012 p.R338G 0.203 NULL 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 32 0 0.00 30 10 25.00 - - - SYNDIG1 0 genome.wustl.edu 37 20 24524112 24524112 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 20 24524112 24524112 G A SNP SYNDIG1 ENST00000376862 human ensembl 69_37n +1 known missense c.379 p.E127K 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1 HGNC ENSG00000101463 58 0 0.00 32 28 46.67 - - - TMPRSS7 0 genome.wustl.edu 37 3 111757148 111757148 + Missense_Mutation SNP C C G TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 3 111757148 111757148 C G SNP TMPRSS7 ENST00000452346 human ensembl 69_37n +1 novel missense c.278 p.T93R 0.993 NULL pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS7 HGNC ENSG00000176040 27 0 0.00 21 6 22.22 - - - TRPM1 0 genome.wustl.edu 37 15 31332453 31332453 + Missense_Mutation SNP C C A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 15 31332453 31332453 C A SNP TRPM1 ENST00000542188 human ensembl 69_37n -1 known missense c.2235 p.W745C 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 64 0 0.00 60 15 20.00 - - - TRPV5 0 genome.wustl.edu 37 7 142626581 142626581 + Silent SNP G G C TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 7 142626581 142626581 G C SNP TRPV5 ENST00000265310 human ensembl 69_37n -1 known silent c.429 p.V143 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 38 0 0.00 39 21 35.00 - - - TYRO3 0 genome.wustl.edu 37 15 41865525 41865525 + Missense_Mutation SNP G G T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 15 41865525 41865525 G T SNP TYRO3 ENST00000263798 human ensembl 69_37n +1 known missense c.2005 p.V669L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_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 35 0 0.00 59 8 11.94 - - - UVRAG 0 genome.wustl.edu 37 11 75623074 75623074 + Missense_Mutation SNP C C T TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ec022e6-a735-448d-86b4-2854b80669f6 7888d0dc-9a75-417a-8dd6-3897de85f24b 11 75623074 75623074 C T SNP UVRAG ENST00000356136 human ensembl 69_37n +1 known missense c.584 p.S195F 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 42 0 0.00 19 485 96.23 - - -