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 AKAP13 0 genome.wustl.edu 37 15 86266397 86266397 + Silent SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 15 86266397 86266397 G A SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known silent c.6603 p.K2201 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 31 0 0.00 11 10 47.62 - - - AMPD3 0 genome.wustl.edu 37 11 10521756 10521756 + Missense_Mutation SNP T T C TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 11 10521756 10521756 T C SNP AMPD3 ENST00000396553 human ensembl 69_37n +1 known missense c.1681 p.Y561H 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 52 0 0.00 46 32 41.03 - - - ANXA5 0 genome.wustl.edu 37 4 122607522 122607522 + Silent SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 4 122607522 122607522 G A SNP ANXA5 ENST00000296511 human ensembl 69_37n -1 known silent c.15 p.L5 0.199 superfamily_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 34 0 0.00 15 11 42.31 - - - ARHGAP32 0 genome.wustl.edu 37 11 128842567 128842567 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 11 128842567 128842567 C T SNP ARHGAP32 ENST00000310343 human ensembl 69_37n -1 known missense c.3792 p.M1264I 0.546 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 34 0 0.00 31 13 29.55 - - - BAZ2A 0 genome.wustl.edu 37 12 56995558 56995558 + Silent SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 12 56995558 56995558 C T SNP BAZ2A ENST00000551812 human ensembl 69_37n -1 known silent c.3849 p.L1283 0.989 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 37 0 0.00 30 23 43.40 - - - BAZ2A 0 genome.wustl.edu 37 12 56995588 56995588 + Silent SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 12 56995588 56995588 C T SNP BAZ2A ENST00000551812 human ensembl 69_37n -1 known silent c.3819 p.L1273 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 41 0 0.00 37 20 35.09 - - - BIRC6 0 genome.wustl.edu 37 2 32718729 32718729 + Silent SNP T T A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 2 32718729 32718729 T A SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known silent c.8463 p.T2821 0.996 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 96 0 0.00 92 35 27.56 - - - BTBD19 0 genome.wustl.edu 37 1 45279094 45279094 + Missense_Mutation SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 45279094 45279094 G A SNP BTBD19 ENST00000450269 human ensembl 69_37n +1 known missense c.664 p.E222K 0.994 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD19 HGNC ENSG00000222009 14 0 0.00 13 7 35.00 - - - C1orf192 0 genome.wustl.edu 37 1 161336022 161336023 + In_Frame_Ins INS - - GAT TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 161336022 161336023 - GAT INS C1orf192 ENST00000367974 human ensembl 69_37n -1 known in_frame_ins c.137_136 p.46in_frame_insH 1.000:0.997 NULL NULL - no_errors C1orf192 HGNC ENSG00000188931 67 0 0.00 35 21 37.50 - - - C5orf45 0 genome.wustl.edu 37 5 179280201 179280201 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 5 179280201 179280201 C T SNP C5orf45 ENST00000403396 human ensembl 69_37n -1 known missense c.248 p.G83E 0.004 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 50 0 0.00 44 15 25.42 - - - CATSPER4 0 genome.wustl.edu 37 1 26528990 26528990 + Missense_Mutation SNP C C G TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 26528990 26528990 C G SNP CATSPER4 ENST00000456354 human ensembl 69_37n +1 known missense c.1376 p.S459C 0.251 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 66 0 0.00 29 39 57.35 - - - CCDC168 0 genome.wustl.edu 37 13 103382504 103382504 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 13 103382504 103382504 C T SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known missense c.6656 p.R2219K 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 48 0 0.00 19 27 58.70 - - - CCDC92 0 genome.wustl.edu 37 12 124427988 124427988 + Missense_Mutation SNP G G T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 12 124427988 124427988 G T SNP CCDC92 ENST00000238156 human ensembl 69_37n -1 known missense c.87 p.S29R 0.582 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 76 0 0.00 39 19 32.76 - - - CDH1 0 genome.wustl.edu 37 16 68845757 68845757 + Nonsense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 16 68845757 68845757 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.1003 p.R335* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,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 45 0 0.00 22 19 46.34 - - - CHRNA6 0 genome.wustl.edu 37 8 42623707 42623707 + RNA SNP C C A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 8 42623707 42623707 C A SNP CHRNA6 ENST00000530869 human ensembl 69_37n -1 known rna NULL NULL 0.014 - - - no_errors CHRNA6 HGNC ENSG00000147434 18 0 0.00 7 8 53.33 - - - CSRP1 0 genome.wustl.edu 37 1 201455910 201455910 + RNA SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 201455910 201455910 C T SNP CSRP1 ENST00000458271 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CSRP1 HGNC ENSG00000159176 8 0 0.00 10 6 37.50 - - - CTAGE5 0 genome.wustl.edu 37 14 39760281 39760281 + Missense_Mutation SNP C C A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 14 39760281 39760281 C A SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known missense c.365 p.T122K 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 57 0 0.00 46 20 30.30 - - - DENND2A 0 genome.wustl.edu 37 7 140246714 140246714 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 7 140246714 140246714 C T SNP DENND2A ENST00000275884 human ensembl 69_37n -1 known missense c.2063 p.R688Q 0.998 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 67 0 0.00 56 26 31.71 - - - DUOX2 0 genome.wustl.edu 37 15 45398769 45398769 + Silent SNP G G C TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 15 45398769 45398769 G C SNP DUOX2 ENST00000389039 human ensembl 69_37n -1 known silent c.1902 p.L634 0.973 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX2 HGNC ENSG00000140279 67 0 0.00 18 26 59.09 - - - ERC2 0 genome.wustl.edu 37 3 56468948 56468948 + Nonsense_Mutation SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 3 56468948 56468948 G A SNP ERC2 ENST00000288221 human ensembl 69_37n -1 known nonsense c.88 p.R30* 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 95 0 0.00 56 32 36.36 - - - FAM47B 0 genome.wustl.edu 37 X 34961515 34961515 + Silent SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 X 34961515 34961515 G A SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known silent c.567 p.P189 0.045 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 96 0 0.00 84 16 16.00 - - - FDPS 0 genome.wustl.edu 37 1 155279519 155279519 + RNA SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 155279519 155279519 C T SNP FDPS ENST00000487002 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors FDPS HGNC ENSG00000160752 23 0 0.00 10 10 50.00 - - - FDPS 0 genome.wustl.edu 37 1 155290290 155290290 + Missense_Mutation SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 155290290 155290290 G A SNP FDPS ENST00000356657 human ensembl 69_37n +1 known missense c.1150 p.E384K 1.000 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 54 0 0.00 66 36 35.29 - - - FILIP1 0 genome.wustl.edu 37 6 76124553 76124553 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 6 76124553 76124553 C T SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known missense c.136 p.E46K 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 63 0 0.00 51 29 36.25 - - - FOXO4 0 genome.wustl.edu 37 X 70321266 70321266 + Missense_Mutation SNP C C G TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 X 70321266 70321266 C G SNP FOXO4 ENST00000374259 human ensembl 69_37n +1 known missense c.1186 p.L396V 0.967 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 19 0 0.00 19 13 40.62 - - - FRMPD4 0 genome.wustl.edu 37 X 12516808 12516808 + Silent SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 X 12516808 12516808 G A SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known silent c.51 p.T17 0.678 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 24 0 0.00 25 10 28.57 - - - HPN 0 genome.wustl.edu 37 19 35551280 35551280 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 19 35551280 35551280 C T SNP HPN ENST00000262626 human ensembl 69_37n +1 known missense c.484 p.R162C 1.000 superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 64 0 0.00 55 8 12.70 - - - IGKV1D-16 0 genome.wustl.edu 37 2 90139522 90139522 + Missense_Mutation SNP G G T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 2 90139522 90139522 G T SNP IGKV1D-16 ENST00000492446 human ensembl 69_37n +1 known missense c.293 p.S98I 1.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-16 HGNC ENSG00000241244 135 0 0.00 81 68 45.64 - - - KIAA0513 0 genome.wustl.edu 37 16 85100730 85100730 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 16 85100730 85100730 C T SNP KIAA0513 ENST00000258180 human ensembl 69_37n +1 known missense c.53 p.A18V 0.002 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 48 0 0.00 34 13 27.08 - - - KIAA2018 0 genome.wustl.edu 37 3 113378576 113378577 + Frame_Shift_Del DEL AG AG - TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 3 113378576 113378577 AG - DEL KIAA2018 ENST00000316407 human ensembl 69_37n -1 known frame_shift_del c.1953_1952 p.T651fs 0.883:0.898 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors KIAA2018 HGNC ENSG00000176542 36 0 0.00 55 17 23.29 - - - LCMT2 0 genome.wustl.edu 37 15 43622012 43622012 + Missense_Mutation SNP C C A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 15 43622012 43622012 C A SNP LCMT2 ENST00000305641 human ensembl 69_37n -1 known missense c.676 p.A226S 0.997 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 104 0 0.00 37 36 49.32 - - - LEPRE1 0 genome.wustl.edu 37 1 43218275 43218275 + Missense_Mutation SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 43218275 43218275 G A SNP LEPRE1 ENST00000236040 human ensembl 69_37n -1 known missense c.1406 p.S469F 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 48 0 0.00 27 18 40.00 - - - LINC00281 0 genome.wustl.edu 37 22 21660920 21660920 + RNA SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 22 21660920 21660920 G A SNP LINC00281 ENST00000416615 human ensembl 69_37n -1 known rna NULL NULL 0.017 - - - no_errors LINC00281 HGNC ENSG00000206142 10 0 0.00 10 6 37.50 - - - MEIS3 0 genome.wustl.edu 37 19 47910643 47910643 + Missense_Mutation SNP C C G TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 19 47910643 47910643 C G SNP MEIS3 ENST00000559524 human ensembl 69_37n -1 known missense c.1039 p.D347H 1.000 pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS3 HGNC ENSG00000105419 106 1 0.93 84 42 33.33 - - - MUC2 0 genome.wustl.edu 37 11 1093104 1093104 + Silent SNP C C A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 11 1093104 1093104 C A SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known silent c.4923 p.T1641 0.095 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 313 2 0.63 345 40 10.36 - - - MUC4 0 genome.wustl.edu 37 3 195477775 195477775 + Missense_Mutation SNP G G T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 3 195477775 195477775 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.15856 p.R5286S 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 54 0 0.00 56 24 30.00 - - - NKRF 0 genome.wustl.edu 37 X 118724234 118724234 + Missense_Mutation SNP T T C TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 X 118724234 118724234 T C SNP NKRF ENST00000542113 human ensembl 69_37n -1 known missense c.1199 p.H400R 1.000 smart_Ds-RNA-bd pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 74 0 0.00 73 13 15.12 - - - NKX2-6 0 genome.wustl.edu 37 8 23560250 23560250 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 8 23560250 23560250 C T SNP NKX2-6 ENST00000418222 human ensembl 69_37n -1 known missense c.374 p.R125Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors NKX2-6 HGNC ENSG00000180053 108 0 0.00 62 41 39.81 - - - NT5C3 0 genome.wustl.edu 37 7 33054388 33054388 + Missense_Mutation SNP T T C TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 7 33054388 33054388 T C SNP NT5C3 ENST00000242210 human ensembl 69_37n -1 known missense c.965 p.D322G 1.000 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3 HGNC ENSG00000122643 46 0 0.00 52 6 10.17 - - - NUP155 0 genome.wustl.edu 37 5 37371053 37371053 + Silent SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 5 37371053 37371053 C T SNP NUP155 ENST00000231498 human ensembl 69_37n -1 known silent c.27 p.A9 0.001 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 16 0 0.00 15 6 28.57 - - - OR52B4 0 genome.wustl.edu 37 11 4389026 4389026 + Missense_Mutation SNP C C G TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 11 4389026 4389026 C G SNP OR52B4 ENST00000408920 human ensembl 69_37n -1 known missense c.500 p.R167T 0.028 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52B4 HGNC ENSG00000221996 19 0 0.00 13 8 38.10 - - - OR8I2 0 genome.wustl.edu 37 11 55861250 55861250 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 11 55861250 55861250 C T SNP OR8I2 ENST00000302124 human ensembl 69_37n +1 known missense c.467 p.S156L 0.755 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 51 0 0.00 37 19 33.93 - - - PALMD 0 genome.wustl.edu 37 1 100151978 100151978 + RNA SNP G G T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 100151978 100151978 G T SNP PALMD ENST00000496843 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors PALMD HGNC ENSG00000099260 8 0 0.00 1 8 88.89 - - - PCSK2 0 genome.wustl.edu 37 20 17207983 17207983 + Silent SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 20 17207983 17207983 G A SNP PCSK2 ENST00000262545 human ensembl 69_37n +1 known silent c.33 p.A11 1.000 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 40 0 0.00 29 36 55.38 - - - PHACTR3 0 genome.wustl.edu 37 20 58349311 58349311 + Missense_Mutation SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 20 58349311 58349311 G A SNP PHACTR3 ENST00000371015 human ensembl 69_37n +1 known missense c.940 p.E314K 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 28 0 0.00 18 12 40.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 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 25 0 0.00 10 12 54.55 - - - PRDM2 0 genome.wustl.edu 37 1 14105230 14105230 + Missense_Mutation SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 14105230 14105230 G A SNP PRDM2 ENST00000235372 human ensembl 69_37n +1 known missense c.940 p.E314K 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 17 0 0.00 25 6 19.35 - - - RABGGTB 0 genome.wustl.edu 37 1 76253360 76253360 + RNA SNP A A T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 76253360 76253360 A T SNP RABGGTB ENST00000496055 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RABGGTB HGNC ENSG00000137955 19 0 0.00 3 10 76.92 - - - RBP3 0 genome.wustl.edu 37 10 48383987 48383987 + Splice_Site SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 10 48383987 48383987 C T SNP RBP3 ENST00000224600 human ensembl 69_37n -1 known splice_site c.3246-1 e3-1 1.000 - - - no_errors RBP3 HGNC ENSG00000107618 85 0 0.00 62 35 36.08 - - - RNU11 0 genome.wustl.edu 37 1 28975227 28975227 + RNA SNP C C A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 28975227 28975227 C A SNP RNU11 ENST00000387069 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNU11 HGNC ENSG00000209804 72 0 0.00 23 23 50.00 - - - SEPT4 0 genome.wustl.edu 37 17 56598421 56598421 + Missense_Mutation SNP C C G TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 17 56598421 56598421 C G SNP SEPT4 ENST00000457347 human ensembl 69_37n -1 known missense c.1260 p.E420D 1.000 pfam_Cell_div_GTP-bd pfam_Cell_div_GTP-bd - no_errors SEPT4 HGNC ENSG00000108387 27 0 0.00 18 13 41.94 - - - SEPT4 0 genome.wustl.edu 37 17 56598442 56598442 + Silent SNP C C G TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 17 56598442 56598442 C G SNP SEPT4 ENST00000457347 human ensembl 69_37n -1 known silent c.1239 p.V413 1.000 pfam_Cell_div_GTP-bd pfam_Cell_div_GTP-bd - no_errors SEPT4 HGNC ENSG00000108387 26 0 0.00 14 12 46.15 - - - SGK223 0 genome.wustl.edu 37 8 8234883 8234883 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 8 8234883 8234883 C T SNP SGK223 ENST00000330777 human ensembl 69_37n -1 known missense c.1036 p.G346S 0.010 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PRAGMIN Clone_based_vega_gene ENSG00000182319 124 1 0.80 120 14 10.45 - - - SHANK1 0 genome.wustl.edu 37 19 51201173 51201173 + Silent SNP G G C TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 19 51201173 51201173 G C SNP SHANK1 ENST00000391814 human ensembl 69_37n -1 known silent c.1788 p.V596 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 80 0 0.00 77 40 34.19 - - - SIGLEC1 0 genome.wustl.edu 37 20 3673774 3673774 + Silent SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 20 3673774 3673774 C T SNP SIGLEC1 ENST00000344754 human ensembl 69_37n -1 known silent c.3513 p.A1171 0.217 NULL 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 84 0 0.00 61 27 30.68 - - - SMEK1 0 genome.wustl.edu 37 14 91975859 91975859 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 14 91975859 91975859 C T SNP SMEK1 ENST00000554943 human ensembl 69_37n -1 known missense c.133 p.E45K 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 20 0 0.00 21 19 47.50 - - - SRSF1 0 genome.wustl.edu 37 17 56083287 56083287 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 17 56083287 56083287 C T SNP SRSF1 ENST00000258962 human ensembl 69_37n -1 known missense c.427 p.E143K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 41 0 0.00 13 14 51.85 - - - TBCCD1 0 genome.wustl.edu 37 3 186281917 186281917 + Missense_Mutation SNP C C A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 3 186281917 186281917 C A SNP TBCCD1 ENST00000338733 human ensembl 69_37n -1 known missense c.202 p.A68S 0.889 NULL pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 46 0 0.00 45 41 47.67 - - - TNR 0 genome.wustl.edu 37 1 175332859 175332861 + In_Frame_Del DEL ATG ATG - TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 1 175332859 175332861 ATG - DEL TNR ENST00000263525 human ensembl 69_37n -1 known in_frame_del c.2692_2690 p.S897in_frame_del 0.997:0.206:0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 61 0 0.00 65 17 20.73 - - - TPTE 0 genome.wustl.edu 37 21 10907021 10907021 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 21 10907021 10907021 C T SNP TPTE ENST00000361285 human ensembl 69_37n -1 known missense c.1540 p.E514K 0.904 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-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 131 0 0.00 89 17 16.04 - - - WASH6P 0 genome.wustl.edu 37 X 155254556 155254556 + RNA SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 X 155254556 155254556 C T SNP WASH6P ENST00000461007 human ensembl 69_37n +1 known rna NULL NULL 0.016 - - - no_errors WASH6P HGNC ENSG00000182484 14 0 0.00 9 5 35.71 - - - WNT16 0 genome.wustl.edu 37 7 120969357 120969357 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 7 120969357 120969357 C T SNP WNT16 ENST00000222462 human ensembl 69_37n +1 known missense c.11 p.A4V 0.999 prints_Wnt16 pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 124 1 0.80 82 54 39.13 - - - XIRP2 0 genome.wustl.edu 37 2 168099266 168099266 + Missense_Mutation SNP C C T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 2 168099266 168099266 C T SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.1364 p.P455L 1.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 45 0 0.00 30 17 36.17 - - - ZMYM3 0 genome.wustl.edu 37 X 70462162 70462162 + Frame_Shift_Del DEL A A - TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 X 70462162 70462162 A - DEL ZMYM3 ENST00000373988 human ensembl 69_37n -1 known frame_shift_del c.3666 p.F1222fs 0.992 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 87 0 0.00 62 28 31.11 - - - ZNF334 0 genome.wustl.edu 37 20 45130540 45130540 + Missense_Mutation SNP G G T TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 20 45130540 45130540 G T SNP ZNF334 ENST00000347606 human ensembl 69_37n -1 known missense c.1438 p.Q480K 1.000 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 - no_errors ZNF334 HGNC ENSG00000198185 52 0 0.00 53 28 34.57 - - - ZNF507 0 genome.wustl.edu 37 19 32845390 32845390 + Missense_Mutation SNP G G A TCGA-PE-A5DD-01A-12D-A27P-09 TCGA-PE-A5DD-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 240ff9b5-d5c6-4d0f-b2a3-dbbdf7e3aff0 5069f07e-fae4-47fc-8512-0ca8b9f19494 19 32845390 32845390 G A SNP ZNF507 ENST00000311921 human ensembl 69_37n +1 known missense c.1654 p.D552N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 26 0 0.00 15 13 46.43 - - -