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 ADAMTSL1 0 genome.wustl.edu 37 9 18474248 18474248 + Silent SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 9 18474248 18474248 G C SNP ADAMTSL1 ENST00000327883 human ensembl 69_37n +1 known silent c.18 p.R6 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 194 0 0.00 55 27 32.93 - - - ADCY10 0 genome.wustl.edu 37 1 167791335 167791335 + Nonsense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 167791335 167791335 G A SNP ADCY10 ENST00000367851 human ensembl 69_37n -1 known nonsense c.4213 p.Q1405* 0.001 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 287 0 0.00 213 85 28.52 - - - ANKFY1 0 genome.wustl.edu 37 17 4111293 4111293 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 4111293 4111293 G A SNP ANKFY1 ENST00000570535 human ensembl 69_37n -1 known missense c.793 p.H265Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 145 0 0.00 66 54 45.00 - - - ANKRD13C 0 genome.wustl.edu 37 1 70781223 70781223 + Nonsense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 70781223 70781223 G A SNP ANKRD13C ENST00000370944 human ensembl 69_37n -1 known nonsense c.604 p.Q202* 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 107 0 0.00 67 14 17.28 - - - ANKRD50 0 genome.wustl.edu 37 4 125593162 125593162 + Nonsense_Mutation SNP T T A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 125593162 125593162 T A SNP ANKRD50 ENST00000504087 human ensembl 69_37n -1 known nonsense c.1270 p.K424* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD50 HGNC ENSG00000151458 122 0 0.00 37 36 49.32 - - - ANKRD6 0 genome.wustl.edu 37 6 90340379 90340379 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 90340379 90340379 G A SNP ANKRD6 ENST00000339746 human ensembl 69_37n +1 known missense c.1840 p.V614I 0.023 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 ANKRD6 HGNC ENSG00000135299 75 0 0.00 34 29 46.03 - - - APOB 0 genome.wustl.edu 37 2 21232270 21232270 + Silent SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 21232270 21232270 G T SNP APOB ENST00000233242 human ensembl 69_37n -1 known silent c.7470 p.T2490 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 306 0 0.00 237 125 34.44 - - - ATP13A5 0 genome.wustl.edu 37 3 193044787 193044787 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 193044787 193044787 G C SNP ATP13A5 ENST00000342358 human ensembl 69_37n -1 known missense c.1521 p.N507K 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 153 0 0.00 79 94 54.34 - - - B3GAT1 0 genome.wustl.edu 37 11 134253872 134253872 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 11 134253872 134253872 G T SNP B3GAT1 ENST00000537389 human ensembl 69_37n -1 known missense c.362 p.T121K 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 13 0 0.00 2 4 66.67 - - - BAG3 0 genome.wustl.edu 37 10 121429661 121429662 + Frame_Shift_Del DEL CC CC - TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 10 121429661 121429662 CC - DEL BAG3 ENST00000369085 human ensembl 69_37n +1 known frame_shift_del c.479_480 p.Q161fs 0.176:0.104 NULL pfam_BAG_domain,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_Rsp5_WWP - no_errors BAG3 HGNC ENSG00000151929 24 0 0.00 7 2 22.22 - - - BEND6 0 genome.wustl.edu 37 6 56857343 56857343 + Silent SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 56857343 56857343 C A SNP BEND6 ENST00000370746 human ensembl 69_37n +1 known silent c.288 p.V96 0.998 NULL pfam_BEN_domain - no_errors BEND6 HGNC ENSG00000151917 339 0 0.00 206 51 19.84 - - - BRWD1 0 genome.wustl.edu 37 21 40571202 40571202 + Nonsense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 21 40571202 40571202 C A SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known nonsense c.5140 p.E1714* 0.574 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 66 0 0.00 41 20 32.79 - - - BTBD17 0 genome.wustl.edu 37 17 72352875 72352875 + Missense_Mutation SNP T T A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 72352875 72352875 T A SNP BTBD17 ENST00000375366 human ensembl 69_37n -1 known missense c.1358 p.E453V 1.000 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 23 0 0.00 3 9 75.00 - - - BTN1A1 0 genome.wustl.edu 37 6 26509208 26509208 + Missense_Mutation SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 26509208 26509208 T G SNP BTN1A1 ENST00000244513 human ensembl 69_37n +1 known missense c.1387 p.W463G 0.696 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 98 0 0.00 92 19 17.12 - - - C2orf16 0 genome.wustl.edu 37 2 27802013 27802013 + Silent SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 27802013 27802013 G C SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known silent c.2574 p.G858 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 53 0 0.00 62 21 25.30 - - - C9orf156 0 genome.wustl.edu 37 9 100675657 100675657 + Nonsense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 9 100675657 100675657 G C SNP C9orf156 ENST00000455506 human ensembl 69_37n -1 known nonsense c.429 p.Y143* 0.000 superfamily_UPF0066_YaeB pfam_UPF0066,superfamily_UPF0066_YaeB - no_start_codon C9orf156 HGNC ENSG00000136932 151 0 0.00 44 51 53.68 - - - CACNA1E 0 genome.wustl.edu 37 1 181680207 181680207 + Splice_Site SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 181680207 181680207 T C SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known splice_site c.1171+2 e8+2 1.000 - - - no_errors CACNA1E HGNC ENSG00000198216 119 1 0.79 102 16 12.90 - - - CCDC104 0 genome.wustl.edu 37 2 55763007 55763007 + Silent SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 55763007 55763007 T C SNP CCDC104 ENST00000403007 human ensembl 69_37n +1 putative silent c.645 p.F215 0.001 NULL pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC ENSG00000163001 248 0 0.00 266 62 18.90 - - - CCDC168 0 genome.wustl.edu 37 13 103386074 103386074 + Missense_Mutation SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 13 103386074 103386074 T G SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known missense c.3086 p.D1029A 0.002 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 171 0 0.00 160 29 15.34 - - - CCDC60 0 genome.wustl.edu 37 12 119943035 119943035 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 119943035 119943035 G C SNP CCDC60 ENST00000327554 human ensembl 69_37n +1 known missense c.810 p.Q270H 0.011 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 92 0 0.00 43 47 52.22 - - - CCER1 0 genome.wustl.edu 37 12 91347376 91347376 + Missense_Mutation SNP T T A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 91347376 91347376 T A SNP CCER1 ENST00000358859 human ensembl 69_37n -1 known missense c.1144 p.T382S 0.000 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 209 1 0.48 76 49 38.89 - - - CD36 0 genome.wustl.edu 37 7 80303418 80303418 + Missense_Mutation SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 7 80303418 80303418 T G SNP CD36 ENST00000488048 human ensembl 69_37n +1 putative missense c.154 p.F52V 0.964 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CD36 HGNC ENSG00000135218 364 0 0.00 262 154 37.02 - - - CDH13 0 genome.wustl.edu 37 16 83378511 83378511 + Silent SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 16 83378511 83378511 G C SNP CDH13 ENST00000566620 human ensembl 69_37n +1 known silent c.681 p.G227 0.423 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 80 0 0.00 22 36 62.07 - - - CELSR1 0 genome.wustl.edu 37 22 46777911 46777911 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 22 46777911 46777911 G A SNP CELSR1 ENST00000262738 human ensembl 69_37n -1 known missense c.6920 p.T2307I 0.001 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 19 0 0.00 3 5 62.50 - - - CEP95 0 genome.wustl.edu 37 17 62510391 62510391 + Nonsense_Mutation SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 62510391 62510391 A T SNP CEP95 ENST00000582724 human ensembl 69_37n +1 putative nonsense c.64 p.R22* 0.895 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CEP95 HGNC ENSG00000258890 70 0 0.00 50 22 30.56 - - - CNTN1 0 genome.wustl.edu 37 12 41337509 41337509 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 41337509 41337509 G A SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known missense c.1490 p.G497E 0.991 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 285 0 0.00 118 87 42.44 - - - CNTN3 0 genome.wustl.edu 37 3 74313557 74313557 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 74313557 74313557 A G SNP CNTN3 ENST00000263665 human ensembl 69_37n -1 known missense c.3082 p.W1028R 0.994 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 107 0 0.00 60 7 10.29 - - - CNTNAP1 0 genome.wustl.edu 37 17 40840974 40840974 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 40840974 40840974 G A SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.1537 p.D513N 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 253 0 0.00 125 74 37.19 - - - COPE 0 genome.wustl.edu 37 19 19016390 19016390 + Silent SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 19016390 19016390 G A SNP COPE ENST00000262812 human ensembl 69_37n -1 known silent c.492 p.L164 0.725 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 53 0 0.00 43 54 55.67 - - - CP 0 genome.wustl.edu 37 3 148903026 148903026 + Missense_Mutation SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 148903026 148903026 T G SNP CP ENST00000264613 human ensembl 69_37n -1 known missense c.2285 p.N762T 0.997 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 159 0 0.00 177 55 23.71 - - - CPEB4 0 genome.wustl.edu 37 5 173317753 173317753 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 5 173317753 173317753 A G SNP CPEB4 ENST00000519152 human ensembl 69_37n +1 novel missense c.74 p.Q25R 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon CPEB4 HGNC ENSG00000113742 61 0 0.00 28 10 26.32 - - - CTBP1-AS1 0 genome.wustl.edu 37 4 1244492 1244492 + RNA SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 1244492 1244492 G C SNP CTBP1-AS1 ENST00000357591 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors CTBP1-AS1 HGNC ENSG00000196810 24 0 0.00 31 6 16.22 - - - CUX2 0 genome.wustl.edu 37 12 111785467 111785467 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 111785467 111785467 G C SNP CUX2 ENST00000261726 human ensembl 69_37n +1 known missense c.3799 p.D1267H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 75 0 0.00 30 9 23.08 - - - CXorf67 0 genome.wustl.edu 37 X 51150094 51150094 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 51150094 51150094 G A SNP CXorf67 ENST00000342995 human ensembl 69_37n +1 known missense c.226 p.A76T 0.001 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 46 0 0.00 22 13 36.11 - - - CYB5R1 0 genome.wustl.edu 37 1 202935152 202935152 + RNA SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 202935152 202935152 T C SNP CYB5R1 ENST00000473599 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CYB5R1 HGNC ENSG00000159348 178 0 0.00 175 31 14.76 - - - DCAF12L2 0 genome.wustl.edu 37 X 125298656 125298656 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 125298656 125298656 C G SNP DCAF12L2 ENST00000360028 human ensembl 69_37n -1 known missense c.1252 p.V418L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 75 0 0.00 49 6 10.91 - - - DCAF13 0 genome.wustl.edu 37 8 104452383 104452383 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 8 104452383 104452383 A G SNP DCAF13 ENST00000297579 human ensembl 69_37n +1 known missense c.1426 p.R476G 0.961 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 297 0 0.00 524 82 13.51 - - - DNAH7 0 genome.wustl.edu 37 2 196753032 196753032 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 196753032 196753032 A G SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.5356 p.F1786L 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 91 0 0.00 55 16 22.54 - - - DNAH8 0 genome.wustl.edu 37 6 38825426 38825426 + Missense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 38825426 38825426 C A SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.5215 p.Q1739K 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 288 0 0.00 351 59 14.36 - - - DUOX1 0 genome.wustl.edu 37 15 45437157 45437157 + Missense_Mutation SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 15 45437157 45437157 A T SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.2201 p.K734M 1.000 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 DUOX1 HGNC ENSG00000137857 117 0 0.00 63 13 16.88 - - - EDNRB 0 genome.wustl.edu 37 13 78474078 78474078 + Silent SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 13 78474078 78474078 A G SNP EDNRB ENST00000334286 human ensembl 69_37n -1 known silent c.1110 p.I370 0.896 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ETB_rcpt,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Bombsn_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors EDNRB HGNC ENSG00000136160 187 0 0.00 127 44 25.73 - - - EFR3B 0 genome.wustl.edu 37 2 25344626 25344626 + Missense_Mutation SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 25344626 25344626 T G SNP EFR3B ENST00000403714 human ensembl 69_37n +1 known missense c.448 p.C150G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 120 0 0.00 95 33 25.78 - - - ELTD1 0 genome.wustl.edu 37 1 79403558 79403558 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 79403558 79403558 C G SNP ELTD1 ENST00000370742 human ensembl 69_37n -1 known missense c.694 p.A232P 0.003 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 219 0 0.00 110 34 23.45 - - - EMX2 0 genome.wustl.edu 37 10 119307628 119307628 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 10 119307628 119307628 A G SNP EMX2 ENST00000369201 human ensembl 69_37n +1 known missense c.644 p.E215G 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif,pfscan_Homeodomain - no_errors EMX2 HGNC ENSG00000170370 113 0 0.00 73 17 18.89 - - - F5 0 genome.wustl.edu 37 1 169510241 169510241 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 169510241 169510241 G T SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.4102 p.H1368N 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 798 1 0.12 916 207 18.38 - - - F5 0 genome.wustl.edu 37 1 169510242 169510242 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 169510242 169510242 G T SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.4101 p.S1367R 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 798 2 0.25 921 215 18.93 - - - F5 0 genome.wustl.edu 37 1 169510453 169510453 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 169510453 169510453 G T SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.3890 p.T1297K 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 987 1 0.10 1101 356 24.43 - - - FAM129C 0 genome.wustl.edu 37 19 17653023 17653023 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 17653023 17653023 C T SNP FAM129C ENST00000335393 human ensembl 69_37n +1 known missense c.1342 p.R448C 0.001 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 88 0 0.00 56 58 47.54 - - - FAM209A 0 genome.wustl.edu 37 20 55101071 55101071 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 20 55101071 55101071 C G SNP FAM209A ENST00000371328 human ensembl 69_37n +1 known missense c.461 p.A154G 0.000 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 167 0 0.00 125 54 30.17 - - - FAM54B 0 genome.wustl.edu 37 1 26153135 26153135 + Nonsense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 26153135 26153135 G A SNP FAM54B ENST00000374300 human ensembl 69_37n +1 known nonsense c.269 p.W90* 1.000 pfam_Mtfr1 pfam_Mtfr1 - no_errors FAM54B HGNC ENSG00000117640 43 0 0.00 20 9 31.03 - - - FANCI 0 genome.wustl.edu 37 15 89807217 89807217 + Missense_Mutation SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 15 89807217 89807217 T C SNP FANCI ENST00000310775 human ensembl 69_37n +1 known missense c.629 p.I210T 1.000 NULL NULL - no_errors FANCI HGNC ENSG00000140525 298 0 0.00 155 79 33.76 - - - FAT3 0 genome.wustl.edu 37 11 92534181 92534181 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 11 92534181 92534181 C G SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.8002 p.Q2668E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 80 0 0.00 29 43 59.72 - - - FCHO1 0 genome.wustl.edu 37 19 17889452 17889452 + Silent SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 17889452 17889452 C T SNP FCHO1 ENST00000252771 human ensembl 69_37n +1 known silent c.1386 p.S462 0.958 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC ENSG00000130475 24 0 0.00 34 32 48.48 - - - FETUB 0 genome.wustl.edu 37 3 186362642 186362642 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 186362642 186362642 C G SNP FETUB ENST00000265029 human ensembl 69_37n +1 known missense c.527 p.A176G 0.961 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 97 0 0.00 59 99 62.66 - - - FGD3 0 genome.wustl.edu 37 9 95795090 95795090 + Missense_Mutation SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 9 95795090 95795090 A T SNP FGD3 ENST00000337352 human ensembl 69_37n +1 known missense c.1720 p.S574C 0.999 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 123 0 0.00 30 34 53.12 - - - FIGN 0 genome.wustl.edu 37 2 164466580 164466580 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 164466580 164466580 C G SNP FIGN ENST00000333129 human ensembl 69_37n -1 known missense c.1762 p.D588H 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 145 0 0.00 88 22 20.00 - - - FKBP6 0 genome.wustl.edu 37 7 72756874 72756874 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 7 72756874 72756874 G T SNP FKBP6 ENST00000252037 human ensembl 69_37n +1 known missense c.961 p.G321C 0.000 NULL pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP6 HGNC ENSG00000077800 134 0 0.00 82 24 22.64 - - - FNDC7 0 genome.wustl.edu 37 1 109268596 109268596 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 109268596 109268596 C T SNP FNDC7 ENST00000271311 human ensembl 69_37n +1 known missense c.1084 p.P362S 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 129 0 0.00 80 22 21.57 - - - FPR2 0 genome.wustl.edu 37 19 52272299 52272299 + Missense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 52272299 52272299 C A SNP FPR2 ENST00000340023 human ensembl 69_37n +1 known missense c.388 p.P130T 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 440 0 0.00 246 95 27.70 - - - FXR2 0 genome.wustl.edu 37 17 7497244 7497244 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 7497244 7497244 A G SNP FXR2 ENST00000250113 human ensembl 69_37n -1 known missense c.1099 p.Y367H 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 85 0 0.00 33 35 51.47 - - - FZD6 0 genome.wustl.edu 37 8 104340619 104340619 + Missense_Mutation SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 8 104340619 104340619 T G SNP FZD6 ENST00000358755 human ensembl 69_37n +1 known missense c.1516 p.F506V 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 253 0 0.00 406 110 21.28 - - - GALNT13 0 genome.wustl.edu 37 2 155115571 155115571 + Nonsense_Mutation SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 155115571 155115571 A T SNP GALNT13 ENST00000409237 human ensembl 69_37n +1 known nonsense c.895 p.R299* 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 252 0 0.00 146 35 19.23 - - - GSS 0 genome.wustl.edu 37 20 33530406 33530406 + Missense_Mutation SNP A A C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 20 33530406 33530406 A C SNP GSS ENST00000216951 human ensembl 69_37n -1 known missense c.376 p.S126A 1.000 pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_fold,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk - no_errors GSS HGNC ENSG00000100983 167 0 0.00 81 22 21.36 - - - HERC4 0 genome.wustl.edu 37 10 69793826 69793829 + Frame_Shift_Del DEL TGCA TGCA - TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 TGCA TGCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 10 69793826 69793829 TGCA - DEL HERC4 ENST00000395198 human ensembl 69_37n -1 known frame_shift_del c.581_578 p.M193fs 1.000:1.000:1.000:1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 184 0 0.00 70 25 26.04 - - - IL17A 0 genome.wustl.edu 37 6 52053964 52053964 + Silent SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 52053964 52053964 C A SNP IL17A ENST00000340057 human ensembl 69_37n +1 known silent c.342 p.P114 1.000 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17A HGNC ENSG00000112115 201 0 0.00 229 49 17.63 - - - IQCF2 0 genome.wustl.edu 37 3 51897216 51897216 + Silent SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 51897216 51897216 T C SNP IQCF2 ENST00000333127 human ensembl 69_37n +1 known silent c.325 p.L109 0.016 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF2 HGNC ENSG00000184345 215 0 0.00 140 45 24.32 - - - ITGAX 0 genome.wustl.edu 37 16 31371718 31371718 + Silent SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 16 31371718 31371718 C T SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known silent c.795 p.D265 0.011 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 29 0 0.00 20 7 25.93 - - - JARID2 0 genome.wustl.edu 37 6 15496556 15496556 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 15496556 15496556 C G SNP JARID2 ENST00000341776 human ensembl 69_37n +1 known missense c.1100 p.P367R 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 269 0 0.00 164 28 14.51 - - - KIAA0226 0 genome.wustl.edu 37 3 197421305 197421305 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 197421305 197421305 C T SNP KIAA0226 ENST00000296343 human ensembl 69_37n -1 known missense c.1625 p.R542Q 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 246 0 0.00 229 74 24.42 - - - KIAA0319L 0 genome.wustl.edu 37 1 35908580 35908580 + Silent SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 35908580 35908580 T C SNP KIAA0319L ENST00000325722 human ensembl 69_37n -1 known silent c.2706 p.K902 0.928 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 154 1 0.65 79 99 55.62 - - - KIAA0368 0 genome.wustl.edu 37 9 114145598 114145598 + Missense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 9 114145598 114145598 C A SNP KIAA0368 ENST00000259335 human ensembl 69_37n -1 known missense c.4230 p.M1410I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 143 0 0.00 64 103 61.68 - - - KIF4A 0 genome.wustl.edu 37 X 69594088 69594088 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 69594088 69594088 G A SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known missense c.1762 p.D588N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 100 0 0.00 57 25 30.49 - - - KLRC1 0 genome.wustl.edu 37 12 10600152 10600152 + Frame_Shift_Del DEL T T - TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 10600152 10600152 T - DEL KLRC1 ENST00000359151 human ensembl 69_37n -1 known frame_shift_del c.569 p.N190fs 0.196 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 257 0 0.00 144 31 17.42 - - - KRT79 0 genome.wustl.edu 37 12 53218090 53218090 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 53218090 53218090 G C SNP KRT79 ENST00000330553 human ensembl 69_37n -1 known missense c.912 p.D304E 1.000 pfam_F pfam_F,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 170 0 0.00 91 21 18.75 - - - L1CAM 0 genome.wustl.edu 37 X 153136574 153136574 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 153136574 153136574 A G SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known missense c.467 p.V156A 0.003 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 23 0 0.00 2 7 77.78 - - - LRBA 0 genome.wustl.edu 37 4 151829594 151829594 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 151829594 151829594 G C SNP LRBA ENST00000357115 human ensembl 69_37n -1 known missense c.1385 p.S462C 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 406 0 0.00 181 94 34.18 - - - LRFN1 0 genome.wustl.edu 37 19 39798427 39798427 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 39798427 39798427 C G SNP LRFN1 ENST00000248668 human ensembl 69_37n -1 known missense c.2162 p.R721P 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC ENSG00000128011 16 0 0.00 5 4 44.44 - - - LRPPRC 0 genome.wustl.edu 37 2 44190742 44190742 + Frame_Shift_Del DEL T T - TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 44190742 44190742 T - DEL LRPPRC ENST00000260665 human ensembl 69_37n -1 known frame_shift_del c.1473 p.R492fs 0.002 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 277 0 0.00 231 30 11.41 - - - LRRC33 0 genome.wustl.edu 37 3 196386694 196386694 + Silent SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 196386694 196386694 G T SNP LRRC33 ENST00000328557 human ensembl 69_37n +1 known silent c.180 p.R60 0.004 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC33 HGNC ENSG00000174004 54 0 0.00 67 10 12.99 - - - LRRC46 0 genome.wustl.edu 37 17 45909569 45909569 + Silent SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 45909569 45909569 G A SNP LRRC46 ENST00000269025 human ensembl 69_37n +1 known silent c.114 p.K38 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC46 HGNC ENSG00000141294 228 0 0.00 123 86 41.15 - - - LRRD1 0 genome.wustl.edu 37 7 91775484 91775484 + Missense_Mutation SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 7 91775484 91775484 A T SNP LRRD1 ENST00000430130 human ensembl 69_37n -1 known missense c.2309 p.V770D 0.999 superfamily_DEATH-like pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 99 0 0.00 60 35 36.84 - - - LTBP1 0 genome.wustl.edu 37 2 33482526 33482526 + Silent SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 33482526 33482526 G A SNP LTBP1 ENST00000354476 human ensembl 69_37n +1 known silent c.2343 p.V781 1.000 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 42 0 0.00 32 14 30.43 - - - MAP3K7 0 genome.wustl.edu 37 6 91257871 91257871 + Silent SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 91257871 91257871 T G SNP MAP3K7 ENST00000369329 human ensembl 69_37n -1 known silent c.975 p.T325 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,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 MAP3K7 HGNC ENSG00000135341 244 0 0.00 178 55 23.61 - - - MAP4K1 0 genome.wustl.edu 37 19 39098533 39098533 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 39098533 39098533 C T SNP MAP4K1 ENST00000591921 human ensembl 69_37n -1 novel missense c.239 p.R80H 0.051 NULL pfam_Citron,smart_Citron - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAP4K1 HGNC ENSG00000104814 38 0 0.00 15 6 28.57 - - - MAPK8IP2 0 genome.wustl.edu 37 22 51041670 51041670 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 22 51041670 51041670 C T SNP MAPK8IP2 ENST00000329492 human ensembl 69_37n +1 known missense c.190 p.R64C 1.000 NULL pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP2 HGNC ENSG00000008735 23 0 0.00 20 10 32.26 - - - MED15 0 genome.wustl.edu 37 22 20918843 20918843 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 22 20918843 20918843 G A SNP MED15 ENST00000423862 human ensembl 69_37n +1 novel missense c.379 p.A127T 1.000 NULL pfam_Mediator_Med15_met - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MED15 HGNC ENSG00000099917 19 0 0.00 9 8 47.06 - - - METTL23 0 genome.wustl.edu 37 17 74729704 74729704 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 74729704 74729704 C G SNP METTL23 ENST00000341249 human ensembl 69_37n +1 known missense c.509 p.S170C 0.999 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL23 HGNC ENSG00000181038 72 0 0.00 66 28 29.79 - - - MIR622 0 genome.wustl.edu 37 13 90883493 90883493 + RNA SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 13 90883493 90883493 C G SNP MIR622 ENST00000385123 human ensembl 69_37n +1 known rna NULL NULL 0.040 - - - no_errors MIR622 HGNC ENSG00000207858 130 0 0.00 40 51 56.04 - - - MLIP 0 genome.wustl.edu 37 6 53986383 53986383 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 53986383 53986383 C G SNP MLIP ENST00000274897 human ensembl 69_37n +1 known missense c.202 p.P68A 0.997 NULL NULL - no_errors MLIP HGNC ENSG00000146147 97 0 0.00 114 16 12.31 - - - MSL3 0 genome.wustl.edu 37 X 11781914 11781914 + Silent SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 11781914 11781914 G A SNP MSL3 ENST00000312196 human ensembl 69_37n +1 known silent c.765 p.K255 1.000 pfam_MRG pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 191 0 0.00 108 42 28.00 - - - MSL3 0 genome.wustl.edu 37 X 11781915 11781915 + Nonsense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 11781915 11781915 G T SNP MSL3 ENST00000312196 human ensembl 69_37n +1 known nonsense c.766 p.E256* 1.000 pfam_MRG pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 192 0 0.00 106 41 27.89 - - - MUC12 0 genome.wustl.edu 37 7 100646595 100646595 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 7 100646595 100646595 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.13180 p.P4394S 0.005 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 409 0 0.00 364 133 26.76 - - - MUC4 0 genome.wustl.edu 37 3 195511438 195511438 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 195511438 195511438 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.7013 p.P2338H 0.157 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 26 0 0.00 51 7 12.07 - - - MUM1L1 0 genome.wustl.edu 37 X 105450903 105450903 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 105450903 105450903 A G SNP MUM1L1 ENST00000337685 human ensembl 69_37n +1 known missense c.1478 p.Y493C 0.970 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 117 0 0.00 45 16 26.23 - - - MYH6 0 genome.wustl.edu 37 14 23862941 23862941 + Silent SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 14 23862941 23862941 C T SNP MYH6 ENST00000356287 human ensembl 69_37n -1 known silent c.2862 p.K954 0.988 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 338 0 0.00 342 58 14.50 - - - NALCN 0 genome.wustl.edu 37 13 101733990 101733990 + Missense_Mutation SNP A A C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 13 101733990 101733990 A C SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.3773 p.M1258R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 378 0 0.00 142 146 50.69 - - - NCAM1 0 genome.wustl.edu 37 11 113103076 113103076 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 11 113103076 113103076 G C SNP NCAM1 ENST00000316851 human ensembl 69_37n +1 known missense c.1395 p.E465D 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NCAM1 HGNC ENSG00000149294 120 0 0.00 97 28 22.40 - - - NCAPD3 0 genome.wustl.edu 37 11 134073802 134073802 + Splice_Site SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 11 134073802 134073802 C G SNP NCAPD3 ENST00000534548 human ensembl 69_37n -1 known splice_site c.1216-1 e11-1 1.000 - - - no_errors NCAPD3 HGNC ENSG00000151503 67 0 0.00 49 13 20.97 - - - NCOR1 0 genome.wustl.edu 37 17 15938204 15938204 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 15938204 15938204 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.7010 p.S2337F 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 330 0 0.00 106 60 36.14 - - - NDUFB3 0 genome.wustl.edu 37 2 201950321 201950321 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 201950321 201950321 G C SNP NDUFB3 ENST00000237889 human ensembl 69_37n +1 known missense c.280 p.D94H 0.605 pfam_NADH_UbQ_OxRdtase_B12_su pfam_NADH_UbQ_OxRdtase_B12_su - no_errors NDUFB3 HGNC ENSG00000119013 222 0 0.00 133 50 27.17 - - - NEK4 0 genome.wustl.edu 37 3 52786050 52786050 + Missense_Mutation SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 52786050 52786050 T C SNP NEK4 ENST00000487068 human ensembl 69_37n -1 known missense c.37 p.K13E 0.010 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NEK4 HGNC ENSG00000114904 415 0 0.00 165 155 48.29 - - - NELL1 0 genome.wustl.edu 37 11 20949974 20949974 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 11 20949974 20949974 C T SNP NELL1 ENST00000357134 human ensembl 69_37n +1 known missense c.946 p.P316S 0.285 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 238 0 0.00 90 51 36.17 - - - NPFFR2 0 genome.wustl.edu 37 4 73013148 73013148 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 73013148 73013148 G T SNP NPFFR2 ENST00000308744 human ensembl 69_37n +1 known missense c.1188 p.M396I 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 120 0 0.00 47 30 38.96 - - - NUP205 0 genome.wustl.edu 37 7 135300790 135300790 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 7 135300790 135300790 A G SNP NUP205 ENST00000285968 human ensembl 69_37n +1 known missense c.3437 p.D1146G 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 196 0 0.00 129 21 14.00 - - - OR10H4 0 genome.wustl.edu 37 19 16060405 16060405 + Silent SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 16060405 16060405 T G SNP OR10H4 ENST00000322107 human ensembl 69_37n +1 known silent c.588 p.S196 0.000 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 OR10H4 HGNC ENSG00000176231 431 0 0.00 387 813 67.75 - - - OR52M1 0 genome.wustl.edu 37 11 4566606 4566606 + Nonsense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 11 4566606 4566606 C A SNP OR52M1 ENST00000360213 human ensembl 69_37n +1 known nonsense c.186 p.Y62* 0.685 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,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 OR52M1 HGNC ENSG00000197790 398 0 0.00 175 39 18.22 - - - OR5V1 0 genome.wustl.edu 37 6 29323667 29323667 + Frame_Shift_Del DEL A A - TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 29323667 29323667 A - DEL OR5V1 ENST00000377151 human ensembl 69_37n -1 known frame_shift_del c.306 p.F102fs 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 197 0 0.00 180 27 12.98 - - - PAX5 0 genome.wustl.edu 37 9 37015189 37015189 + Missense_Mutation SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 9 37015189 37015189 T C SNP PAX5 ENST00000358127 human ensembl 69_37n -1 known missense c.215 p.Y72C 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX5 HGNC ENSG00000196092 96 0 0.00 76 24 24.00 - - - PCDHGA7 0 genome.wustl.edu 37 5 140763532 140763532 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 5 140763532 140763532 A G SNP PCDHGA7 ENST00000518325 human ensembl 69_37n +1 known missense c.1066 p.I356V 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 43 0 0.00 18 6 25.00 - - - PCDHGB7 0 genome.wustl.edu 37 5 140797618 140797618 + Silent SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 5 140797618 140797618 C T SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known silent c.192 p.R64 0.871 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 111 0 0.00 45 36 43.90 - - - PDCL2 0 genome.wustl.edu 37 4 56435917 56435917 + Missense_Mutation SNP A A C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 56435917 56435917 A C SNP PDCL2 ENST00000295645 human ensembl 69_37n -1 known missense c.330 p.D110E 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold - no_errors PDCL2 HGNC ENSG00000163440 190 0 0.00 214 51 19.17 - - - PDE4DIP 0 genome.wustl.edu 37 1 144923716 144923716 + Frame_Shift_Del DEL T T - TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 144923716 144923716 T - DEL PDE4DIP ENST00000369356 human ensembl 69_37n -1 known frame_shift_del c.742 p.I248fs 0.989 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 540 0 0.00 427 68 13.65 - - - PDLIM5 0 genome.wustl.edu 37 4 95539203 95539203 + Missense_Mutation SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 95539203 95539203 A T SNP PDLIM5 ENST00000506632 human ensembl 69_37n +1 known missense c.197 p.H66L 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PDLIM5 HGNC ENSG00000163110 166 0 0.00 87 13 12.87 - - - PHKB 0 genome.wustl.edu 37 16 47683069 47683069 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 16 47683069 47683069 A G SNP PHKB ENST00000299167 human ensembl 69_37n +1 known missense c.1751 p.D584G 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 354 0 0.00 167 29 14.80 - - - PHLDA1 0 genome.wustl.edu 37 12 76425062 76425062 + Missense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 76425062 76425062 C A SNP PHLDA1 ENST00000266671 human ensembl 69_37n -1 known missense c.460 p.G154C 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 25 0 0.00 8 9 52.94 - - - PIK3CA 0 genome.wustl.edu 37 3 178937452 178937452 + Missense_Mutation SNP T T A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 178937452 178937452 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1840 p.F614I 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 160 0 0.00 243 33 11.96 - - - PJA2 0 genome.wustl.edu 37 5 108704338 108704338 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 5 108704338 108704338 C G SNP PJA2 ENST00000361189 human ensembl 69_37n -1 known missense c.1393 p.D465H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 197 0 0.00 86 11 11.34 - - - PPP5D1 0 genome.wustl.edu 37 19 47030324 47030324 + Silent SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 47030324 47030324 G T SNP PPP5D1 ENST00000414155 human ensembl 69_37n -1 known silent c.93 p.V31 0.991 NULL pfam_PPP_dom - no_errors PPP5D1 HGNC ENSG00000230510 146 0 0.00 100 46 31.51 - - - PRAME 0 genome.wustl.edu 37 22 22890750 22890750 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 22 22890750 22890750 C G SNP PRAME ENST00000398741 human ensembl 69_37n -1 known missense c.1269 p.L423F 0.024 NULL NULL - no_errors PRAME HGNC ENSG00000185686 109 0 0.00 47 73 60.83 - - - PRAMEF10 0 genome.wustl.edu 37 1 12954759 12954759 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 12954759 12954759 C G SNP PRAMEF10 ENST00000235347 human ensembl 69_37n -1 known missense c.524 p.R175T 0.000 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 58 0 0.00 39 23 37.10 - - - PREX1 0 genome.wustl.edu 37 20 47305213 47305213 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 20 47305213 47305213 G T SNP PREX1 ENST00000371941 human ensembl 69_37n -1 known missense c.1316 p.P439H 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 145 0 0.00 55 31 36.05 - - - PRPF38B 0 genome.wustl.edu 37 1 109238761 109238761 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 109238761 109238761 C G SNP PRPF38B ENST00000370025 human ensembl 69_37n +1 known missense c.442 p.L148V 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 234 0 0.00 179 23 11.39 - - - PYGL 0 genome.wustl.edu 37 14 51398410 51398410 + Missense_Mutation SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 14 51398410 51398410 T G SNP PYGL ENST00000216392 human ensembl 69_37n -1 known missense c.509 p.K170T 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 55 0 0.00 28 24 46.15 - - - RAD51AP1 0 genome.wustl.edu 37 12 4653024 4653024 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 4653024 4653024 C G SNP RAD51AP1 ENST00000228843 human ensembl 69_37n +1 known missense c.163 p.L55V 0.000 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 196 0 0.00 87 27 23.68 - - - RALYL 0 genome.wustl.edu 37 8 85833143 85833143 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 8 85833143 85833143 G T SNP RALYL ENST00000521268 human ensembl 69_37n +1 known missense c.873 p.K291N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 62 0 0.00 74 16 17.78 - - - RBM47 0 genome.wustl.edu 37 4 40427971 40427971 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 40427971 40427971 G T SNP RBM47 ENST00000295971 human ensembl 69_37n -1 known missense c.1732 p.P578T 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 113 0 0.00 46 52 53.06 - - - RDH5 0 genome.wustl.edu 37 12 56118203 56118203 + Silent SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 56118203 56118203 C T SNP RDH5 ENST00000257895 human ensembl 69_37n +1 known silent c.831 p.P277 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH5 HGNC ENSG00000135437 83 0 0.00 76 11 12.64 - - - RFC4 0 genome.wustl.edu 37 3 186508118 186508118 + Silent SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 186508118 186508118 G C SNP RFC4 ENST00000296273 human ensembl 69_37n -1 known silent c.879 p.V293 0.837 pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC4 HGNC ENSG00000163918 361 0 0.00 454 134 22.79 - - - RGL3 0 genome.wustl.edu 37 19 11507984 11507984 + Silent SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 11507984 11507984 C T SNP RGL3 ENST00000393423 human ensembl 69_37n -1 known silent c.1968 p.K656 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 46 0 0.00 12 22 62.86 - - - RIMS2 0 genome.wustl.edu 37 8 104973347 104973347 + Missense_Mutation SNP T T C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 8 104973347 104973347 T C SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known missense c.2756 p.I919T 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 271 0 0.00 438 60 12.05 - - - RNF220 0 genome.wustl.edu 37 1 44877905 44877905 + Nonsense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 44877905 44877905 C T SNP RNF220 ENST00000355387 human ensembl 69_37n +1 known nonsense c.136 p.R46* 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 113 0 0.00 83 72 46.45 - - - ROPN1 0 genome.wustl.edu 37 3 123688911 123688911 + Silent SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 123688911 123688911 G A SNP ROPN1 ENST00000184183 human ensembl 69_37n -1 known silent c.550 p.L184 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1 HGNC ENSG00000065371 223 1 0.45 72 53 42.40 - - - RSBN1 0 genome.wustl.edu 37 1 114340575 114340575 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 114340575 114340575 G C SNP RSBN1 ENST00000261441 human ensembl 69_37n -1 known missense c.787 p.R263G 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 332 0 0.00 288 60 17.24 - - - SAGE1 0 genome.wustl.edu 37 X 134991072 134991072 + Silent SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 134991072 134991072 A G SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known silent c.1491 p.K497 0.000 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 201 0 0.00 90 77 45.56 - - - SAP130 0 genome.wustl.edu 37 2 128750777 128750777 + Silent SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 128750777 128750777 A T SNP SAP130 ENST00000357702 human ensembl 69_37n -1 known silent c.1539 p.T513 0.995 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 144 0 0.00 121 27 18.12 - - - SGCA 0 genome.wustl.edu 37 17 48247563 48247563 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 48247563 48247563 G C SNP SGCA ENST00000504073 human ensembl 69_37n +1 novel missense c.124 p.G42R 1.000 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SGCA HGNC ENSG00000108823 110 0 0.00 49 48 49.48 - - - SGMS1 0 genome.wustl.edu 37 10 52103376 52103376 + Missense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 10 52103376 52103376 G A SNP SGMS1 ENST00000361781 human ensembl 69_37n -1 known missense c.499 p.P167S 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 98 0 0.00 33 15 31.25 - - - SHROOM3 0 genome.wustl.edu 37 4 77675773 77675773 + Silent SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 77675773 77675773 G T SNP SHROOM3 ENST00000296043 human ensembl 69_37n +1 known silent c.4137 p.P1379 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 97 0 0.00 65 24 26.09 - - - SI 0 genome.wustl.edu 37 3 164773011 164773011 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 164773011 164773011 G C SNP SI ENST00000264382 human ensembl 69_37n -1 known missense c.1483 p.Q495E 0.300 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 152 0 0.00 56 79 58.09 - - - SIGLEC9 0 genome.wustl.edu 37 19 51628959 51628959 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 51628959 51628959 C T SNP SIGLEC9 ENST00000440804 human ensembl 69_37n +1 known missense c.527 p.P176L 0.000 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC9 HGNC ENSG00000129450 96 0 0.00 58 11 15.94 - - - SLC11A2 0 genome.wustl.edu 37 12 51384687 51384687 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 51384687 51384687 G C SNP SLC11A2 ENST00000394904 human ensembl 69_37n -1 known missense c.1553 p.S518C 0.974 NULL pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp - no_errors SLC11A2 HGNC ENSG00000110911 187 0 0.00 147 23 13.53 - - - SLC12A5 0 genome.wustl.edu 37 20 44678383 44678383 + Missense_Mutation SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 20 44678383 44678383 A T SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.2204 p.E735V 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 53 0 0.00 48 13 20.97 - - - SLC23A1 0 genome.wustl.edu 37 5 138715509 138715509 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 5 138715509 138715509 G C SNP SLC23A1 ENST00000353963 human ensembl 69_37n -1 known missense c.795 p.I265M 0.999 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 66 0 0.00 58 9 13.43 - - - SLC25A4 0 genome.wustl.edu 37 4 186066044 186066044 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 186066044 186066044 C T SNP SLC25A4 ENST00000281456 human ensembl 69_37n +1 known missense c.238 p.R80C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A4 HGNC ENSG00000151729 77 0 0.00 35 7 16.67 - - - SMG1 0 genome.wustl.edu 37 16 18846446 18846446 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 16 18846446 18846446 A G SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known missense c.8098 p.C2700R 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 81 0 0.00 48 24 33.33 - - - STAB1 0 genome.wustl.edu 37 3 52548829 52548831 + In_Frame_Del DEL ACG ACG - TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 ACG ACG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 52548829 52548831 ACG - DEL STAB1 ENST00000321725 human ensembl 69_37n +1 known in_frame_del c.3791_3793 p.HA1264in_frame_delP 0.983:0.001:0.003 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 13 0 0.00 9 5 35.71 - - - SYNE1 0 genome.wustl.edu 37 6 152576053 152576053 + Nonsense_Mutation SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 152576053 152576053 G A SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known nonsense c.19432 p.Q6478* 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 144 0 0.00 85 22 20.56 - - - TADA3 0 genome.wustl.edu 37 3 9822135 9822135 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 3 9822135 9822135 C T SNP TADA3 ENST00000301964 human ensembl 69_37n -1 known missense c.1205 p.R402Q 1.000 pfam_Histone_AcTrfase_su3 pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 115 0 0.00 46 66 57.39 - - - TAS2R9 0 genome.wustl.edu 37 12 10961953 10961953 + Missense_Mutation SNP A A T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 12 10961953 10961953 A T SNP TAS2R9 ENST00000240691 human ensembl 69_37n -1 known missense c.722 p.L241H 0.011 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors TAS2R9 HGNC ENSG00000121381 189 0 0.00 135 32 19.16 - - - TCEA1 0 genome.wustl.edu 37 8 54900706 54900706 + Missense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 8 54900706 54900706 C A SNP TCEA1 ENST00000521604 human ensembl 69_37n -1 known missense c.434 p.R145M 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 205 0 0.00 275 58 17.42 - - - TEC 0 genome.wustl.edu 37 4 48230590 48230590 + Silent SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 4 48230590 48230590 C T SNP TEC ENST00000381501 human ensembl 69_37n -1 known silent c.42 p.R14 0.966 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors TEC HGNC ENSG00000135605 443 0 0.00 352 78 18.14 - - - TFE3 0 genome.wustl.edu 37 X 48896923 48896923 + Silent SNP T T A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b X 48896923 48896923 T A SNP TFE3 ENST00000315869 human ensembl 69_37n -1 known silent c.243 p.S81 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFE3 HGNC ENSG00000068323 111 0 0.00 41 27 38.57 - - - TFEC 0 genome.wustl.edu 37 7 115580952 115580952 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 7 115580952 115580952 G T SNP TFEC ENST00000265440 human ensembl 69_37n -1 known missense c.697 p.P233T 1.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFEC HGNC ENSG00000105967 69 0 0.00 43 14 24.56 - - - TMEM107 0 genome.wustl.edu 37 17 8077909 8077909 + Silent SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 8077909 8077909 G C SNP TMEM107 ENST00000316425 human ensembl 69_37n -1 known silent c.300 p.S100 0.137 NULL NULL - no_errors TMEM107 HGNC ENSG00000179029 127 0 0.00 48 48 50.00 - - - TMEM87B 0 genome.wustl.edu 37 2 112847241 112847241 + Silent SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 112847241 112847241 G C SNP TMEM87B ENST00000283206 human ensembl 69_37n +1 known silent c.978 p.L326 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 275 0 0.00 229 53 18.79 - - - TP53 0 genome.wustl.edu 37 17 7577566 7577567 + Frame_Shift_Ins INS - - A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 7577566 7577567 - A INS TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_ins c.715_714 p.N238fs 1.000:0.999 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 218 0 0.00 98 52 34.67 - - - TP53BP2 0 genome.wustl.edu 37 1 223989890 223989890 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 223989890 223989890 G C SNP TP53BP2 ENST00000343537 human ensembl 69_37n -1 known missense c.1153 p.Q385E 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 84 0 0.00 99 31 23.85 - - - TRAP1 0 genome.wustl.edu 37 16 3729754 3729754 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 16 3729754 3729754 G C SNP TRAP1 ENST00000246957 human ensembl 69_37n -1 known missense c.509 p.S170C 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 42 0 0.00 22 9 29.03 - - - TRIL 0 genome.wustl.edu 37 7 28996897 28996897 + RNA SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 7 28996897 28996897 C G SNP TRIL ENST00000322982 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors TRIL HGNC ENSG00000176734 21 0 0.00 7 5 41.67 - - - TRIM47 0 genome.wustl.edu 37 17 73872166 73872166 + Silent SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 17 73872166 73872166 T G SNP TRIM47 ENST00000254816 human ensembl 69_37n -1 known silent c.1017 p.L339 0.004 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM47 HGNC ENSG00000132481 27 0 0.00 16 6 27.27 - - - TTF2 0 genome.wustl.edu 37 1 117618186 117618186 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 117618186 117618186 G C SNP TTF2 ENST00000369466 human ensembl 69_37n +1 known missense c.980 p.G327A 0.010 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 125 0 0.00 79 32 28.83 - - - TTLL7 0 genome.wustl.edu 37 1 84356005 84356005 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 84356005 84356005 C T SNP TTLL7 ENST00000260505 human ensembl 69_37n -1 known missense c.2368 p.G790R 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL7 HGNC ENSG00000137941 116 0 0.00 63 18 22.22 - - - TTN 0 genome.wustl.edu 37 2 179501201 179501201 + Silent SNP G G A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 2 179501201 179501201 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.33549 p.S11183 0.174 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 73 0 0.00 49 10 16.95 - - - TUBE1 0 genome.wustl.edu 37 6 112397239 112397239 + Missense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 112397239 112397239 C A SNP TUBE1 ENST00000368662 human ensembl 69_37n -1 known missense c.713 p.S238I 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 182 0 0.00 121 46 27.54 - - - WDR36 0 genome.wustl.edu 37 5 110445999 110445999 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 5 110445999 110445999 C G SNP WDR36 ENST00000506538 human ensembl 69_37n +1 known missense c.1606 p.Q536E 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 293 0 0.00 103 52 33.55 - - - WDR64 0 genome.wustl.edu 37 1 241912926 241912926 + Nonsense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 241912926 241912926 G T SNP WDR64 ENST00000366552 human ensembl 69_37n +1 known nonsense c.1642 p.E548* 0.851 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 543 0 0.00 343 320 48.19 - - - WDR64 0 genome.wustl.edu 37 1 241953984 241953984 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 241953984 241953984 C G SNP WDR64 ENST00000366552 human ensembl 69_37n +1 known missense c.2953 p.L985V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 421 0 0.00 460 66 12.48 - - - XPO5 0 genome.wustl.edu 37 6 43491629 43491629 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 6 43491629 43491629 G T SNP XPO5 ENST00000265351 human ensembl 69_37n -1 known missense c.3592 p.L1198M 0.896 NULL pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 135 0 0.00 144 63 30.29 - - - ZC3H12C 0 genome.wustl.edu 37 11 110035764 110035764 + Missense_Mutation SNP C C T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 11 110035764 110035764 C T SNP ZC3H12C ENST00000278590 human ensembl 69_37n +1 known missense c.1954 p.P652S 0.914 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 64 0 0.00 63 18 22.22 - - - ZFPM2 0 genome.wustl.edu 37 8 106814808 106814808 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 8 106814808 106814808 G C SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.2498 p.S833T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 52 0 0.00 109 28 20.29 - - - ZNF30 0 genome.wustl.edu 37 19 35435393 35435393 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 35435393 35435393 G C SNP ZNF30 ENST00000439785 human ensembl 69_37n +1 known missense c.1526 p.G509A 0.997 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 ZNF30 HGNC ENSG00000168661 194 0 0.00 201 26 11.45 - - - ZNF565 0 genome.wustl.edu 37 19 36673699 36673699 + Missense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 36673699 36673699 G T SNP ZNF565 ENST00000304116 human ensembl 69_37n -1 known missense c.1169 p.P390H 1.000 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 ZNF565 HGNC ENSG00000196357 98 0 0.00 91 30 24.79 - - - ZNF570 0 genome.wustl.edu 37 19 37975362 37975362 + Silent SNP A A C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 19 37975362 37975362 A C SNP ZNF570 ENST00000330173 human ensembl 69_37n +1 known silent c.838 p.R280 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 ZNF570 HGNC ENSG00000171827 60 0 0.00 58 14 19.44 - - - ZRANB2 0 genome.wustl.edu 37 1 71532605 71532605 + Missense_Mutation SNP C C A TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05362091-8e04-46e2-81e7-1efddc0d8c63 f1681b14-25e1-4bc6-a97d-18928662d45b 1 71532605 71532605 C A SNP ZRANB2 ENST00000370920 human ensembl 69_37n -1 known missense c.783 p.R261S 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 218 0 0.00 130 37 22.16 - - -