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 ABCC1 0 genome.wustl.edu 37 16 16219730 16219730 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 16 16219730 16219730 G A SNP ABCC1 ENST00000399408 human ensembl 69_37n +1 known missense c.3811 p.V1271M 1.000 superfamily_ABC_transptrTM_dom_typ1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 67 0 0.00 52 34 39.53 - - - ACAD10 0 genome.wustl.edu 37 12 112153693 112153693 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 112153693 112153693 C T SNP ACAD10 ENST00000455480 human ensembl 69_37n +1 known missense c.1012 p.R338C 0.026 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors ACAD10 HGNC ENSG00000111271 138 0 0.00 122 35 22.29 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69423641 69423641 + Missense_Mutation SNP T T G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 9 69423641 69423641 T G SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known missense c.1937 p.M646R 0.903 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 24 0 0.00 200 57 22.18 - - - APOBR 0 genome.wustl.edu 37 16 28506761 28506761 + Missense_Mutation SNP C C G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 16 28506761 28506761 C G SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.399 p.S133R 0.010 NULL NULL - no_errors APOBR HGNC ENSG00000184730 40 0 0.00 44 6 12.00 - - - ATXN1L 0 genome.wustl.edu 37 16 71884325 71884325 + Missense_Mutation SNP C C G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 16 71884325 71884325 C G SNP ATXN1L ENST00000427980 human ensembl 69_37n +1 known missense c.682 p.P228A 1.000 NULL pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1L HGNC ENSG00000224470 51 0 0.00 39 8 17.02 - - - BSN 0 genome.wustl.edu 37 3 49662490 49662490 + Missense_Mutation SNP A A T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 3 49662490 49662490 A T SNP BSN ENST00000296452 human ensembl 69_37n +1 known missense c.307 p.T103S 0.945 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 35 0 0.00 37 6 13.95 - - - C2orf16 0 genome.wustl.edu 37 2 27801199 27801201 + In_Frame_Del DEL TTG TTG - TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 2 27801199 27801201 TTG - DEL C2orf16 ENST00000408964 human ensembl 69_37n +1 known in_frame_del c.1760_1762 p.V588in_frame_del 0.002:0.002:0.072 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 62 0 0.00 96 15 13.51 - - - COG6 0 genome.wustl.edu 37 13 40253739 40253739 + Missense_Mutation SNP C C G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 13 40253739 40253739 C G SNP COG6 ENST00000455146 human ensembl 69_37n +1 known missense c.605 p.T202R 1.000 pfam_COG_su6 pfam_COG_su6 - no_errors COG6 HGNC ENSG00000133103 113 0 0.00 96 71 42.51 - - - COL18A1 0 genome.wustl.edu 37 21 46911228 46911228 + Silent SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 21 46911228 46911228 C T SNP COL18A1 ENST00000359759 human ensembl 69_37n +1 known silent c.3402 p.D1134 0.261 NULL 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 14 0 0.00 12 4 25.00 - - - COL25A1 0 genome.wustl.edu 37 4 110221778 110221778 + Missense_Mutation SNP T T G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 4 110221778 110221778 T G SNP COL25A1 ENST00000399132 human ensembl 69_37n -1 known missense c.328 p.I110L 0.985 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 301 0 0.00 251 38 13.15 - - - DAK 0 genome.wustl.edu 37 11 61112999 61112999 + Missense_Mutation SNP G G C TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 11 61112999 61112999 G C SNP DAK ENST00000394900 human ensembl 69_37n +1 known missense c.1413 p.W471C 1.000 pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP pfam_Dak1,pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 41 0 0.00 29 6 17.14 - - - DDX39A 0 genome.wustl.edu 37 19 14523994 14523994 + Nonsense_Mutation SNP G G T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 19 14523994 14523994 G T SNP DDX39A ENST00000242776 human ensembl 69_37n -1 known nonsense c.39 p.Y13* 0.247 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 102 0 0.00 88 12 12.00 - - - EIF3F 0 genome.wustl.edu 37 11 8016560 8016560 + Silent SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 11 8016560 8016560 C T SNP EIF3F ENST00000537635 human ensembl 69_37n +1 known silent c.822 p.P274 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors EIF3F HGNC ENSG00000175390 91 0 0.00 51 24 32.00 - - - ESRRG 0 genome.wustl.edu 37 1 216896587 216896587 + Missense_Mutation SNP C C G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 1 216896587 216896587 C G SNP ESRRG ENST00000408911 human ensembl 69_37n -1 known missense c.55 p.E19Q 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 138 0 0.00 104 24 18.75 - - - FAM118B 0 genome.wustl.edu 37 11 126110852 126110852 + Missense_Mutation SNP T T G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 11 126110852 126110852 T G SNP FAM118B ENST00000533050 human ensembl 69_37n +1 known missense c.252 p.D84E 1.000 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 74 0 0.00 50 16 24.24 - - - FAM96B 0 genome.wustl.edu 37 16 66966114 66966114 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 16 66966114 66966114 G A SNP FAM96B ENST00000422424 human ensembl 69_37n -1 known missense c.484 p.R162C 0.980 NULL pfam_DUF59 - no_errors FAM96B HGNC ENSG00000166595 75 0 0.00 39 13 25.00 - - - FBN1 0 genome.wustl.edu 37 15 48780678 48780678 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 15 48780678 48780678 C T SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.3095 p.C1032Y 1.000 pfam_EGF-like_Ca-bd,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 79 0 0.00 36 8 18.18 - - - FERD3L 0 genome.wustl.edu 37 7 19184661 19184661 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 7 19184661 19184661 G A SNP FERD3L ENST00000275461 human ensembl 69_37n -1 known missense c.325 p.R109C 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors FERD3L HGNC ENSG00000146618 118 0 0.00 61 10 13.89 - - - FRG1 0 genome.wustl.edu 37 4 190874281 190874281 + Splice_Site SNP G G T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 4 190874281 190874281 G T SNP FRG1 ENST00000226798 human ensembl 69_37n +1 known splice_site c.317+1 e4+1 1.000 - - - no_errors FRG1 HGNC ENSG00000109536 86 0 0.00 213 42 16.47 - - - GRIN2B 0 genome.wustl.edu 37 12 13716276 13716276 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 13716276 13716276 C T SNP GRIN2B ENST00000279593 human ensembl 69_37n -1 known missense c.3896 p.R1299H 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 189 0 0.00 137 97 41.10 - - - GUCY2C 0 genome.wustl.edu 37 12 14804406 14804406 + Missense_Mutation SNP C C A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 14804406 14804406 C A SNP GUCY2C ENST00000261170 human ensembl 69_37n -1 known missense c.1645 p.G549C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 97 0 0.00 149 33 18.13 - - - HYDIN 0 genome.wustl.edu 37 16 70869618 70869618 + Missense_Mutation SNP C C G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 16 70869618 70869618 C G SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.13359 p.Q4453H 0.079 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 50 0 0.00 38 6 13.64 - - - INSR 0 genome.wustl.edu 37 19 7267521 7267521 + Missense_Mutation SNP T T C TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 19 7267521 7267521 T C SNP INSR ENST00000302850 human ensembl 69_37n -1 known missense c.487 p.I163V 0.997 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 116 0 0.00 109 13 10.66 - - - KIAA0195 0 genome.wustl.edu 37 17 73486391 73486391 + Missense_Mutation SNP G G T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 17 73486391 73486391 G T SNP KIAA0195 ENST00000314256 human ensembl 69_37n +1 known missense c.1031 p.R344L 0.997 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 62 0 0.00 53 9 14.52 - - - KRT17 0 genome.wustl.edu 37 17 39780482 39780482 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 17 39780482 39780482 G A SNP KRT17 ENST00000311208 human ensembl 69_37n -1 known missense c.280 p.R94C 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT17 HGNC ENSG00000128422 93 0 0.00 65 9 12.16 - - - KRTAP4-8 0 genome.wustl.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 17 39254054 39254054 A T SNP KRTAP4-8 ENST00000333822 human ensembl 69_37n -1 known missense c.283 p.C95S 0.992 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 21 0 0.00 72 16 18.18 - - - LAMA2 0 genome.wustl.edu 37 6 129807718 129807718 + Missense_Mutation SNP C C A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 6 129807718 129807718 C A SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.7849 p.L2617M 0.348 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 65 0 0.00 123 15 10.87 - - - LDLRAD3 0 genome.wustl.edu 37 11 36119907 36119907 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 11 36119907 36119907 G A SNP LDLRAD3 ENST00000315571 human ensembl 69_37n +1 known missense c.350 p.R117H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 74 0 0.00 50 10 16.67 - - - LRP1 0 genome.wustl.edu 37 12 57587027 57587027 + Missense_Mutation SNP C C G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 57587027 57587027 C G SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.7624 p.L2542V 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 68 0 0.00 33 4 10.81 - - - LUZP1 0 genome.wustl.edu 37 1 23419915 23419915 + Missense_Mutation SNP G G C TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 1 23419915 23419915 G C SNP LUZP1 ENST00000302291 human ensembl 69_37n -1 known missense c.840 p.N280K 1.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 181 0 0.00 388 58 13.00 - - - MAP3K13 0 genome.wustl.edu 37 3 185191457 185191457 + Nonsense_Mutation SNP G G T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 3 185191457 185191457 G T SNP MAP3K13 ENST00000265026 human ensembl 69_37n +1 known nonsense c.2338 p.E780* 0.021 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K13 HGNC ENSG00000073803 15 0 0.00 21 7 25.00 - - - MLL2 0 genome.wustl.edu 37 12 49418417 49418417 + Missense_Mutation SNP C C A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 49418417 49418417 C A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.15996 p.M5332I 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 97 0 0.00 37 12 24.49 - - - MUC1 0 genome.wustl.edu 37 1 155160204 155160204 + Missense_Mutation SNP C C A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 1 155160204 155160204 C A SNP MUC1 ENST00000425082 human ensembl 69_37n -1 known missense c.1333 p.V445F 0.000 smart_SEA,pfscan_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC1 HGNC ENSG00000185499 54 0 0.00 34 11 24.44 - - - MYH11 0 genome.wustl.edu 37 16 15931822 15931822 + Silent SNP G G T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 16 15931822 15931822 G T SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known silent c.288 p.L96 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 239 0 0.00 220 96 30.19 - - - NKAIN2 0 genome.wustl.edu 37 6 124979382 124979382 + Missense_Mutation SNP G G T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 6 124979382 124979382 G T SNP NKAIN2 ENST00000368417 human ensembl 69_37n +1 known missense c.324 p.W108C 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 89 0 0.00 143 31 17.82 - - - NLRP7 0 genome.wustl.edu 37 19 55447631 55447631 + Silent SNP C C G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 19 55447631 55447631 C G SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known silent c.2382 p.L794 0.072 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 142 0 0.00 50 9 15.25 - - - ODZ2 0 genome.wustl.edu 37 5 167674943 167674943 + Silent SNP C C A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 5 167674943 167674943 C A SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known silent c.6999 p.T2333 0.953 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 148 0 0.00 111 47 29.75 - - - OR51A7 0 genome.wustl.edu 37 11 4928748 4928748 + Missense_Mutation SNP A A T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 11 4928748 4928748 A T SNP OR51A7 ENST00000359350 human ensembl 69_37n +1 known missense c.149 p.K50M 0.005 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A7 HGNC ENSG00000176895 85 0 0.00 105 44 29.53 - - - OSMR 0 genome.wustl.edu 37 5 38918971 38918971 + Missense_Mutation SNP G G C TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 5 38918971 38918971 G C SNP OSMR ENST00000274276 human ensembl 69_37n +1 known missense c.1392 p.K464N 0.913 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 133 0 0.00 228 43 15.87 - - - PHF20L1 0 genome.wustl.edu 37 8 133849997 133849997 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 8 133849997 133849997 G A SNP PHF20L1 ENST00000220847 human ensembl 69_37n +1 known missense c.293 p.G98E 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 257 0 0.00 116 37 24.18 - - - PHLPP2 0 genome.wustl.edu 37 16 71683709 71683709 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 16 71683709 71683709 C T SNP PHLPP2 ENST00000356272 human ensembl 69_37n -1 known missense c.3056 p.S1019N 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like - no_errors PHLPP2 HGNC ENSG00000040199 243 0 0.00 116 18 13.43 - - - PLIN4 0 genome.wustl.edu 37 19 4508835 4508835 + Missense_Mutation SNP T T A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 19 4508835 4508835 T A SNP PLIN4 ENST00000301286 human ensembl 69_37n -1 novel missense c.3605 p.H1202L 0.761 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 61 0 0.00 15 23 60.53 - - - PRDM10 0 genome.wustl.edu 37 11 129827748 129827748 + Missense_Mutation SNP C C A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 11 129827748 129827748 C A SNP PRDM10 ENST00000358825 human ensembl 69_37n -1 known missense c.127 p.V43F 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 85 0 0.00 72 12 14.29 - - - PSMD9 0 genome.wustl.edu 37 12 122326782 122326782 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 122326782 122326782 G A SNP PSMD9 ENST00000541212 human ensembl 69_37n +1 known missense c.20 p.R7K 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ - no_errors PSMD9 HGNC ENSG00000110801 21 0 0.00 8 4 33.33 - - - PTEN 0 genome.wustl.edu 37 10 89717742 89717743 + Frame_Shift_Ins INS - - G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 10 89717742 89717743 - G INS PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_ins c.767_768 p.F257fs 1.000:0.979 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom 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 85 0 0.00 64 51 44.35 - - - RAB17 0 genome.wustl.edu 37 2 238484088 238484088 + Silent SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 2 238484088 238484088 C T SNP RAB17 ENST00000264601 human ensembl 69_37n -1 known silent c.471 p.L157 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB17 HGNC ENSG00000124839 77 0 0.00 45 6 11.76 - - - RICTOR 0 genome.wustl.edu 37 5 39021230 39021230 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 5 39021230 39021230 C T SNP RICTOR ENST00000296782 human ensembl 69_37n -1 known missense c.106 p.D36N 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 75 0 0.00 256 40 13.51 - - - SENP6 0 genome.wustl.edu 37 6 76380373 76380373 + Nonsense_Mutation SNP C C A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 6 76380373 76380373 C A SNP SENP6 ENST00000503501 human ensembl 69_37n +1 known nonsense c.176 p.S59* 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SENP6 HGNC ENSG00000112701 90 0 0.00 156 22 12.36 - - - SLC22A11 0 genome.wustl.edu 37 11 64329577 64329577 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 11 64329577 64329577 G A SNP SLC22A11 ENST00000301891 human ensembl 69_37n +1 known missense c.599 p.R200Q 0.996 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 82 0 0.00 17 14 45.16 - - - SLC35A1 0 genome.wustl.edu 37 6 88218170 88218170 + Missense_Mutation SNP G G C TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 6 88218170 88218170 G C SNP SLC35A1 ENST00000369552 human ensembl 69_37n +1 known missense c.607 p.D203H 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 65 0 0.00 140 36 20.34 - - - SLC6A18 0 genome.wustl.edu 37 5 1239601 1239601 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 5 1239601 1239601 G A SNP SLC6A18 ENST00000324642 human ensembl 69_37n +1 known missense c.769 p.A257T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 107 0 0.00 45 8 15.09 - - - ST3GAL4 0 genome.wustl.edu 37 11 126283912 126283912 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 11 126283912 126283912 G A SNP ST3GAL4 ENST00000356132 human ensembl 69_37n +1 known missense c.990 p.M330I 0.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL4 HGNC ENSG00000110080 108 0 0.00 76 15 16.48 - - - SVIL 0 genome.wustl.edu 37 10 29775379 29775379 + Missense_Mutation SNP T T G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 10 29775379 29775379 T G SNP SVIL ENST00000355867 human ensembl 69_37n -1 known missense c.4593 p.K1531N 1.000 smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors SVIL HGNC ENSG00000197321 154 1 0.65 235 72 23.45 - - - SZT2 0 genome.wustl.edu 37 1 43892390 43892390 + Silent SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 1 43892390 43892390 C T SNP SZT2 ENST00000562955 human ensembl 69_37n +1 known silent c.3048 p.A1016 0.991 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 71 0 0.00 58 9 13.43 - - - TARBP2 0 genome.wustl.edu 37 12 53895208 53895208 + Nonsense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 53895208 53895208 C T SNP TARBP2 ENST00000266987 human ensembl 69_37n +1 known nonsense c.16 p.Q6* 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors TARBP2 HGNC ENSG00000139546 19 0 0.00 19 5 20.83 - - - TMBIM4 0 genome.wustl.edu 37 12 66531907 66531907 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 66531907 66531907 C T SNP TMBIM4 ENST00000358230 human ensembl 69_37n -1 known missense c.550 p.A184T 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 120 0 0.00 70 9 11.25 - - - TP53 0 genome.wustl.edu 37 17 7578508 7578508 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 17 7578508 7578508 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.422 p.C141Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 53 0 0.00 49 29 36.71 - - - TPH2 0 genome.wustl.edu 37 12 72338118 72338118 + Silent SNP G G C TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 12 72338118 72338118 G C SNP TPH2 ENST00000333850 human ensembl 69_37n +1 known silent c.300 p.R100 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 178 0 0.00 212 28 11.67 - - - TSKS 0 genome.wustl.edu 37 19 50245191 50245191 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 19 50245191 50245191 C T SNP TSKS ENST00000246801 human ensembl 69_37n -1 known missense c.1448 p.G483D 0.998 NULL NULL - no_errors TSKS HGNC ENSG00000126467 207 0 0.00 51 82 61.65 - - - ZCCHC11 0 genome.wustl.edu 37 1 52991318 52991318 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 1 52991318 52991318 G A SNP ZCCHC11 ENST00000257177 human ensembl 69_37n -1 known missense c.635 p.S212F 0.975 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 207 0 0.00 186 23 10.95 - - - ZFR 0 genome.wustl.edu 37 5 32356003 32356003 + Missense_Mutation SNP G G C TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 5 32356003 32356003 G C SNP ZFR ENST00000265069 human ensembl 69_37n -1 known missense c.3088 p.L1030V 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 240 0 0.00 234 38 13.97 - - - ZNF526 0 genome.wustl.edu 37 19 42729694 42729694 + Missense_Mutation SNP G G A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 19 42729694 42729694 G A SNP ZNF526 ENST00000301215 human ensembl 69_37n +1 known missense c.1139 p.R380Q 0.990 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 56 0 0.00 20 5 20.00 - - - ZNF551 0 genome.wustl.edu 37 19 58199532 58199532 + Missense_Mutation SNP T T G TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 19 58199532 58199532 T G SNP ZNF551 ENST00000356715 human ensembl 69_37n +1 known missense c.1889 p.L630R 0.017 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 ZNF551 HGNC ENSG00000204519 100 0 0.00 168 31 15.58 - - - ZNRF4 0 genome.wustl.edu 37 19 5456398 5456398 + Missense_Mutation SNP T T A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3722c97-80f5-4eea-bf50-5a214134bbcc 9b582ef6-8120-4a7a-be49-2c6c0d11713c 19 5456398 5456398 T A SNP ZNRF4 ENST00000222033 human ensembl 69_37n +1 known missense c.896 p.V299D 0.002 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 82 0 0.00 31 7 17.95 - - -