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 ABCB6 0 genome.wustl.edu 37 2 220080803 220080803 + Nonsense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 220080803 220080803 G C SNP ABCB6 ENST00000265316 human ensembl 69_37n -1 known nonsense c.1070 p.S357* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB6 HGNC ENSG00000115657 16 0 0.00 12 5 29.41 - - - ABCB6 0 genome.wustl.edu 37 2 220082409 220082409 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 220082409 220082409 C A SNP ABCB6 ENST00000265316 human ensembl 69_37n -1 known missense c.670 p.D224Y 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB6 HGNC ENSG00000115657 56 0 0.00 42 24 36.36 - - - ACACA 0 genome.wustl.edu 37 17 35597396 35597396 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 35597396 35597396 C G SNP ACACA ENST00000353139 human ensembl 69_37n -1 known missense c.3117 p.Q1039H 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 48 0 0.00 103 24 18.90 - - - ACSF2 0 genome.wustl.edu 37 17 48551306 48551306 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 48551306 48551306 C T SNP ACSF2 ENST00000300441 human ensembl 69_37n +1 known missense c.1669 p.R557W 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 85 0 0.00 34 36 51.43 - - - ADCK3 0 genome.wustl.edu 37 1 227149179 227149179 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 227149179 227149179 C T SNP ADCK3 ENST00000366777 human ensembl 69_37n +1 known silent c.93 p.G31 0.471 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 33 0 0.00 31 9 22.50 - - - ALDH1L2 0 genome.wustl.edu 37 12 105440687 105440687 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 105440687 105440687 C G SNP ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known missense c.1747 p.E583Q 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 155 0 0.00 133 59 30.73 - - - AMBN 0 genome.wustl.edu 37 4 71469607 71469607 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 4 71469607 71469607 G C SNP AMBN ENST00000322937 human ensembl 69_37n +1 known missense c.767 p.R256T 1.000 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 63 0 0.00 51 31 37.80 - - - ANKRD36 0 genome.wustl.edu 37 2 97860646 97860646 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 97860646 97860646 C A SNP ANKRD36 ENST00000420699 human ensembl 69_37n +1 known missense c.2543 p.S848Y 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 213 0 0.00 264 53 16.72 - - - APH1B 0 genome.wustl.edu 37 15 63569883 63569884 + Frame_Shift_Del DEL TA TA - TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 15 63569883 63569884 TA - DEL APH1B ENST00000261879 human ensembl 69_37n +1 known frame_shift_del c.61_62 p.Y21fs 0.986:0.882 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC ENSG00000138613 34 0 0.00 16 7 30.43 - - - APOBR 0 genome.wustl.edu 37 16 28507855 28507855 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 28507855 28507855 G C SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.1493 p.R498T 0.001 NULL NULL - no_errors APOBR HGNC ENSG00000184730 25 0 0.00 29 13 30.95 - - - ARPC5 0 genome.wustl.edu 37 1 183599740 183599740 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 183599740 183599740 G A SNP ARPC5 ENST00000294742 human ensembl 69_37n -1 known silent c.258 p.L86 1.000 pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5 HGNC ENSG00000162704 66 0 0.00 105 33 23.74 - - - ATF7IP 0 genome.wustl.edu 37 12 14614037 14614037 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 14614037 14614037 G A SNP ATF7IP ENST00000261168 human ensembl 69_37n +1 known missense c.2767 p.E923K 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 29 0 0.00 22 11 33.33 - - - ATM 0 genome.wustl.edu 37 11 108124566 108124566 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 11 108124566 108124566 G A SNP ATM ENST00000278616 human ensembl 69_37n +1 known missense c.1924 p.E642K 0.994 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ENSG00000149311 68 0 0.00 13 32 71.11 - - - BCAP31 0 genome.wustl.edu 37 X 152986357 152986357 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 X 152986357 152986357 G A SNP BCAP31 ENST00000458587 human ensembl 69_37n -1 known missense c.364 p.L122F 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 59 0 0.00 65 21 24.42 - - - BCAS2 0 genome.wustl.edu 37 1 115113352 115113352 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 115113352 115113352 C G SNP BCAS2 ENST00000369541 human ensembl 69_37n -1 known missense c.439 p.E147Q 1.000 pfam_BCAS2 pfam_BCAS2 - no_errors BCAS2 HGNC ENSG00000116752 62 0 0.00 35 26 42.62 - - - BCL2L11 0 genome.wustl.edu 37 2 111907684 111907684 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 111907684 111907684 G C SNP BCL2L11 ENST00000393256 human ensembl 69_37n +1 known missense c.458 p.R153P 1.000 pfam_Bcl-x_interacting,pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 38 0 0.00 31 23 42.59 - - - BNC1 0 genome.wustl.edu 37 15 83931995 83931995 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 15 83931995 83931995 C T SNP BNC1 ENST00000345382 human ensembl 69_37n -1 known missense c.2008 p.D670N 0.805 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 73 0 0.00 55 17 23.61 - - - BOLA1 0 genome.wustl.edu 37 1 149871844 149871844 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 149871844 149871844 G C SNP BOLA1 ENST00000369150 human ensembl 69_37n +1 known missense c.232 p.E78Q 0.998 pfam_BolA,superfamily_BolA pfam_BolA,superfamily_BolA - no_errors BOLA1 HGNC ENSG00000178096 14 0 0.00 10 16 61.54 - - - BTN3A3 0 genome.wustl.edu 37 6 26452288 26452288 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 6 26452288 26452288 G C SNP BTN3A3 ENST00000244519 human ensembl 69_37n +1 known missense c.1404 p.E468D 0.990 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-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 BTN3A3 HGNC ENSG00000111801 59 0 0.00 47 33 41.25 - - - C12orf5 0 genome.wustl.edu 37 12 4433901 4433901 + RNA DEL T T - TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 4433901 4433901 T - DEL C12orf5 ENST00000539671 human ensembl 69_37n +1 putative rna NULL NULL 0.999 - - - no_errors C12orf5 HGNC ENSG00000078237 9 0 0.00 4 2 33.33 - - - C3orf37 0 genome.wustl.edu 37 3 128998666 128998666 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 128998666 128998666 G C SNP C3orf37 ENST00000383463 human ensembl 69_37n +1 known missense c.91 p.E31Q 0.104 pfam_DUF159 pfam_DUF159 - no_errors C3orf37 HGNC ENSG00000183624 41 0 0.00 32 13 28.89 - - - C3orf37 0 genome.wustl.edu 37 3 129007811 129007811 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 129007811 129007811 G A SNP C3orf37 ENST00000383463 human ensembl 69_37n +1 known missense c.298 p.D100N 1.000 pfam_DUF159 pfam_DUF159 - no_errors C3orf37 HGNC ENSG00000183624 41 0 0.00 40 18 31.03 - - - CALD1 0 genome.wustl.edu 37 7 134643006 134643006 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 7 134643006 134643006 G C SNP CALD1 ENST00000361388 human ensembl 69_37n +1 known missense c.1339 p.D447H 1.000 pfam_Caldesmon_LSP,prints_Caldesmon pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 118 0 0.00 105 61 36.75 - - - CATSPERB 0 genome.wustl.edu 37 14 92083994 92083994 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 14 92083994 92083994 C T SNP CATSPERB ENST00000256343 human ensembl 69_37n -1 known missense c.2347 p.D783N 0.269 NULL superfamily_Neuraminidase - no_errors CATSPERB HGNC ENSG00000133962 85 0 0.00 70 43 38.05 - - - CCDC87 0 genome.wustl.edu 37 11 66360198 66360198 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 11 66360198 66360198 C T SNP CCDC87 ENST00000333861 human ensembl 69_37n -1 known missense c.289 p.E97K 1.000 NULL pfam_Microtubule-assoc_MAP65_ASE1 - no_errors CCDC87 HGNC ENSG00000182791 24 0 0.00 22 10 31.25 - - - CCS 0 genome.wustl.edu 37 11 66373005 66373005 + Missense_Mutation SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 11 66373005 66373005 G T SNP CCS ENST00000533244 human ensembl 69_37n +1 known missense c.613 p.D205Y 1.000 pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom - no_errors CCS HGNC ENSG00000173992 58 0 0.00 90 25 21.74 - - - CCT4 0 genome.wustl.edu 37 2 62099221 62099221 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 62099221 62099221 C T SNP CCT4 ENST00000394440 human ensembl 69_37n -1 known missense c.1487 p.R496Q 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_delta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta - no_errors CCT4 HGNC ENSG00000115484 85 0 0.00 82 34 29.31 - - - CCT4 0 genome.wustl.edu 37 2 62107467 62107467 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 62107467 62107467 G A SNP CCT4 ENST00000394440 human ensembl 69_37n -1 known silent c.333 p.I111 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta - no_errors CCT4 HGNC ENSG00000115484 70 0 0.00 54 34 38.64 - - - CD3G 0 genome.wustl.edu 37 11 118220523 118220523 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 11 118220523 118220523 G A SNP CD3G ENST00000532917 human ensembl 69_37n +1 known missense c.145 p.E49K 0.000 smart_Ig_sub2 pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3G HGNC ENSG00000160654 77 0 0.00 36 5 12.20 - - - CDH16 0 genome.wustl.edu 37 16 66946466 66946466 + Nonsense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 66946466 66946466 C A SNP CDH16 ENST00000299752 human ensembl 69_37n -1 known nonsense c.1300 p.E434* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 79 0 0.00 25 24 48.98 - - - CHTF18 0 genome.wustl.edu 37 16 844160 844160 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 844160 844160 C A SNP CHTF18 ENST00000317063 human ensembl 69_37n +1 known missense c.2536 p.H846N 0.995 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 19 0 0.00 27 11 28.95 - - - CLIP1 0 genome.wustl.edu 37 12 122825432 122825432 + Silent SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 122825432 122825432 G C SNP CLIP1 ENST00000540338 human ensembl 69_37n -1 known silent c.2319 p.L773 0.925 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 118 0 0.00 105 64 37.87 - - - CNST 0 genome.wustl.edu 37 1 246810526 246810526 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 246810526 246810526 G C SNP CNST ENST00000366513 human ensembl 69_37n +1 known missense c.1023 p.Q341H 0.000 NULL NULL - no_errors CNST HGNC ENSG00000162852 24 0 0.00 23 9 28.12 - - - CWC25 0 genome.wustl.edu 37 17 36966009 36966009 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 36966009 36966009 C A SNP CWC25 ENST00000225428 human ensembl 69_37n -1 known missense c.636 p.K212N 1.000 NULL pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 81 0 0.00 24 41 63.08 - - - CYP2A13 0 genome.wustl.edu 37 19 41595962 41595962 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 41595962 41595962 C T SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known silent c.354 p.F118 0.983 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 8 0 0.00 9 6 40.00 - - - CYP2A7 0 genome.wustl.edu 37 19 41388071 41388071 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 41388071 41388071 C T SNP CYP2A7 ENST00000301146 human ensembl 69_37n -1 known silent c.45 p.L15 0.010 prints_Cyt_P450_E_grp-I_CYP2B-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 60 0 0.00 72 47 39.17 - - - CYP2E1 0 genome.wustl.edu 37 10 135340993 135340993 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 10 135340993 135340993 C G SNP CYP2E1 ENST00000252945 human ensembl 69_37n +1 known missense c.94 p.L32V 0.875 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 18 0 0.00 12 6 33.33 - - - DDR1 0 genome.wustl.edu 37 6 30864588 30864588 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 6 30864588 30864588 C T SNP DDR1 ENST00000514434 human ensembl 69_37n +1 novel missense c.289 p.P97S 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DDR1 HGNC ENSG00000204580 29 0 0.00 21 11 33.33 - - - DDR2 0 genome.wustl.edu 37 1 162729640 162729640 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 162729640 162729640 C T SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known silent c.726 p.F242 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 63 0 0.00 66 22 25.00 - - - DEPDC4 0 genome.wustl.edu 37 12 100657603 100657603 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 100657603 100657603 C G SNP DEPDC4 ENST00000378244 human ensembl 69_37n -1 known missense c.226 p.E76Q 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC ENSG00000166153 52 0 0.00 73 11 13.10 - - - DPF2 0 genome.wustl.edu 37 11 65113788 65113788 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 11 65113788 65113788 C T SNP DPF2 ENST00000528416 human ensembl 69_37n +1 known silent c.975 p.I325 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 72 0 0.00 107 41 27.70 - - - DRG2 0 genome.wustl.edu 37 17 17997277 17997277 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 17997277 17997277 C G SNP DRG2 ENST00000225729 human ensembl 69_37n +1 known missense c.215 p.S72C 1.000 pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 139 0 0.00 119 57 32.39 - - - DSE 0 genome.wustl.edu 37 6 116757740 116757740 + Silent SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 6 116757740 116757740 C A SNP DSE ENST00000537543 human ensembl 69_37n +1 known silent c.2166 p.A722 0.000 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 36 0 0.00 25 8 24.24 - - - ECM2 0 genome.wustl.edu 37 9 95277329 95277329 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 9 95277329 95277329 G A SNP ECM2 ENST00000344604 human ensembl 69_37n -1 known missense c.638 p.S213F 0.013 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 87 0 0.00 131 21 13.73 - - - ERI3 0 genome.wustl.edu 37 1 44820585 44820585 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 44820585 44820585 C T SNP ERI3 ENST00000372257 human ensembl 69_37n -1 known silent c.114 p.P38 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 9 0 0.00 4 6 60.00 - - - FAM171B 0 genome.wustl.edu 37 2 187559029 187559030 + In_Frame_Ins INS - - CAG TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 187559029 187559030 - CAG INS FAM171B ENST00000304698 human ensembl 69_37n +1 known in_frame_ins c.129_130 p.47in_frame_insQ 0.998:1.000 NULL pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 8 0 0.00 12 4 25.00 - - - FAM179A 0 genome.wustl.edu 37 2 29246027 29246027 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 29246027 29246027 G A SNP FAM179A ENST00000379558 human ensembl 69_37n +1 known silent c.1587 p.L529 0.999 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 27 0 0.00 15 6 28.57 - - - FAM208A 0 genome.wustl.edu 37 3 56681156 56681156 + Nonsense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 56681156 56681156 G A SNP FAM208A ENST00000355628 human ensembl 69_37n -1 known nonsense c.1609 p.Q537* 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 36 0 0.00 14 15 51.72 - - - FANCA 0 genome.wustl.edu 37 16 89882319 89882319 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 89882319 89882319 C A SNP FANCA ENST00000389301 human ensembl 69_37n -1 known missense c.155 p.R52L 0.488 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 79 0 0.00 23 30 56.60 - - - FCRL3 0 genome.wustl.edu 37 1 157660235 157660235 + Silent SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 157660235 157660235 C G SNP FCRL3 ENST00000368186 human ensembl 69_37n -1 known silent c.1500 p.L500 0.005 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL3 HGNC ENSG00000160856 47 0 0.00 47 16 25.40 - - - FREM1 0 genome.wustl.edu 37 9 14776228 14776228 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 9 14776228 14776228 C T SNP FREM1 ENST00000380894 human ensembl 69_37n -1 known silent c.24 p.L8 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 26 0 0.00 13 4 23.53 - - - FUK 0 genome.wustl.edu 37 16 70513502 70513502 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 70513502 70513502 C T SNP FUK ENST00000378912 human ensembl 69_37n +1 known silent c.3192 p.I1064 1.000 NULL pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 77 0 0.00 25 32 56.14 - - - GALNT8 0 genome.wustl.edu 37 12 4853841 4853841 + Missense_Mutation SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 4853841 4853841 G T SNP GALNT8 ENST00000252318 human ensembl 69_37n +1 known missense c.835 p.A279S 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 GALNT8 HGNC ENSG00000130035 19 0 0.00 38 14 26.92 - - - GBP4 0 genome.wustl.edu 37 1 89651146 89651146 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 89651146 89651146 C T SNP GBP4 ENST00000355754 human ensembl 69_37n -1 known missense c.1714 p.E572K 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 85 0 0.00 103 37 26.24 - - - GCGR 0 genome.wustl.edu 37 17 79770714 79770714 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 79770714 79770714 C G SNP GCGR ENST00000400723 human ensembl 69_37n +1 known missense c.1069 p.L357V 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GCGR HGNC ENSG00000215644 10 0 0.00 14 4 22.22 - - - GID4 0 genome.wustl.edu 37 17 17965159 17965159 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 17965159 17965159 G A SNP GID4 ENST00000268719 human ensembl 69_37n +1 known missense c.709 p.E237K 1.000 pfam_Vacuolar_import/degrad_Vid24 pfam_Vacuolar_import/degrad_Vid24 - no_errors GID4 HGNC ENSG00000141034 66 0 0.00 76 28 26.42 - - - GLT25D2 0 genome.wustl.edu 37 1 183920242 183920242 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 183920242 183920242 G A SNP GLT25D2 ENST00000361927 human ensembl 69_37n -1 known silent c.1035 p.F345 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC ENSG00000198756 77 0 0.00 89 64 41.83 - - - GPR149 0 genome.wustl.edu 37 3 154055753 154055753 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 154055753 154055753 G C SNP GPR149 ENST00000389740 human ensembl 69_37n -1 known missense c.1931 p.S644C 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR149 HGNC ENSG00000174948 79 0 0.00 138 36 20.69 - - - GPR39 0 genome.wustl.edu 37 2 133402996 133402996 + Silent SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 133402996 133402996 C G SNP GPR39 ENST00000329321 human ensembl 69_37n +1 known silent c.1179 p.L393 0.925 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 20 0 0.00 15 9 37.50 - - - GPR98 0 genome.wustl.edu 37 5 89981683 89981683 + Nonsense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 5 89981683 89981683 C T SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known nonsense c.6361 p.Q2121* 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 79 0 0.00 77 37 32.46 - - - GRB7 0 genome.wustl.edu 37 17 37899229 37899229 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 37899229 37899229 G C SNP GRB7 ENST00000445327 human ensembl 69_37n +1 known missense c.454 p.E152Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 30 0 0.00 346 63 15.40 - - - GRHL3 0 genome.wustl.edu 37 1 24669202 24669202 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 24669202 24669202 C T SNP GRHL3 ENST00000350501 human ensembl 69_37n +1 known missense c.1225 p.R409C 1.000 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 33 0 0.00 34 18 34.62 - - - GRIN2A 0 genome.wustl.edu 37 16 9934583 9934583 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 9934583 9934583 G C SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.1572 p.F524L 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 47 0 0.00 68 16 19.05 - - - GRIN2B 0 genome.wustl.edu 37 12 13716151 13716151 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 13716151 13716151 C G SNP GRIN2B ENST00000279593 human ensembl 69_37n -1 known missense c.4021 p.E1341Q 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 54 0 0.00 48 19 28.36 - - - GTF2IRD2B 0 genome.wustl.edu 37 7 74564242 74564242 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 7 74564242 74564242 G C SNP GTF2IRD2B ENST00000312575 human ensembl 69_37n +1 known missense c.1989 p.Q663H 0.263 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 20 0 0.00 17 6 26.09 - - - GUSBP11 0 genome.wustl.edu 37 22 23980988 23980988 + RNA SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 22 23980988 23980988 G A SNP GUSBP11 ENST00000422506 human ensembl 69_37n -1 known rna NULL NULL 0.283 - - - no_errors GUSBP11 HGNC ENSG00000228315 69 0 0.00 49 19 27.94 - - - HEATR5B 0 genome.wustl.edu 37 2 37284541 37284541 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 37284541 37284541 G A SNP HEATR5B ENST00000233099 human ensembl 69_37n -1 known silent c.2142 p.L714 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 130 0 0.00 138 61 30.65 - - - HERC1 0 genome.wustl.edu 37 15 63958297 63958297 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 15 63958297 63958297 C T SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.8376 p.M2792I 1.000 superfamily_UBA-like pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 35 0 0.00 20 16 44.44 - - - HES4 0 genome.wustl.edu 37 1 934931 934931 + Silent SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 934931 934931 C G SNP HES4 ENST00000428771 human ensembl 69_37n -1 known silent c.345 p.R115 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_Orange,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HES4 HGNC ENSG00000188290 10 0 0.00 16 10 38.46 - - - HIATL2 0 genome.wustl.edu 37 9 99721158 99721158 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 9 99721158 99721158 G C SNP HIATL2 ENST00000375223 human ensembl 69_37n -1 known missense c.226 p.Q76E 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors HIATL2 HGNC ENSG00000196312 115 0 0.00 196 57 22.53 - - - HIST1H2AM 0 genome.wustl.edu 37 6 27860646 27860646 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 6 27860646 27860646 G A SNP HIST1H2AM ENST00000359611 human ensembl 69_37n -1 known silent c.282 p.L94 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AM HGNC ENSG00000233224 113 0 0.00 132 64 32.32 - - - HMGB3 0 genome.wustl.edu 37 X 150156319 150156319 + Nonsense_Mutation SNP A A T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 X 150156319 150156319 A T SNP HMGB3 ENST00000325307 human ensembl 69_37n +1 known nonsense c.535 p.K179* 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB3 HGNC ENSG00000029993 77 0 0.00 113 16 12.40 - - - HMGXB4 0 genome.wustl.edu 37 22 35661391 35661391 + Missense_Mutation SNP A A G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 22 35661391 35661391 A G SNP HMGXB4 ENST00000216106 human ensembl 69_37n +1 known missense c.1010 p.K337R 0.766 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC ENSG00000100281 69 0 0.00 56 18 24.32 - - - HOXA6 0 genome.wustl.edu 37 7 27185451 27185451 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 7 27185451 27185451 G C SNP HOXA6 ENST00000222728 human ensembl 69_37n -1 known missense c.528 p.F176L 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC ENSG00000106006 87 0 0.00 34 46 57.50 - - - HTR1A 0 genome.wustl.edu 37 5 63256550 63256550 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 5 63256550 63256550 G A SNP HTR1A ENST00000323865 human ensembl 69_37n -1 known missense c.997 p.R333C 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 39 0 0.00 40 18 31.03 - - - HTT 0 genome.wustl.edu 37 4 3179079 3179079 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 4 3179079 3179079 G A SNP HTT ENST00000355072 human ensembl 69_37n +1 known silent c.4428 p.L1476 1.000 prints_Huntingtin pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 204 0 0.00 201 82 28.98 - - - IFT140 0 genome.wustl.edu 37 16 1570261 1570261 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 1570261 1570261 G A SNP IFT140 ENST00000426508 human ensembl 69_37n -1 known silent c.3744 p.I1248 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 93 0 0.00 94 29 23.58 - - - IGKV3-15 0 genome.wustl.edu 37 2 89384739 89384739 + Silent SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 89384739 89384739 G C SNP IGKV3-15 ENST00000390252 human ensembl 69_37n -1 known silent c.279 p.L93 0.965 pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3-15 HGNC ENSG00000244437 81 0 0.00 70 28 28.57 - - - INF2 0 genome.wustl.edu 37 14 105175628 105175628 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 14 105175628 105175628 G A SNP INF2 ENST00000392634 human ensembl 69_37n +1 known missense c.1960 p.E654K 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 43 0 0.00 19 13 40.62 - - - JAG1 0 genome.wustl.edu 37 20 10639266 10639266 + Nonsense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 10639266 10639266 G A SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known nonsense c.544 p.Q182* 1.000 pfam_DSL,smart_DSL pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 81 0 0.00 65 65 49.62 - - - JAK3 0 genome.wustl.edu 37 19 17949174 17949174 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 17949174 17949174 C G SNP JAK3 ENST00000458235 human ensembl 69_37n -1 known missense c.1467 p.Q489H 0.985 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 164 0 0.00 107 46 30.07 - - - KIAA0913 0 genome.wustl.edu 37 10 75557294 75557294 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 10 75557294 75557294 C T SNP KIAA0913 ENST00000398706 human ensembl 69_37n +1 known missense c.3593 p.S1198L 1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 35 0 0.00 21 11 34.38 - - - KIF13A 0 genome.wustl.edu 37 6 17773736 17773736 + Missense_Mutation SNP T T C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 6 17773736 17773736 T C SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known missense c.4297 p.R1433G 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 108 0 0.00 87 39 30.95 - - - KRTAP10-4 0 genome.wustl.edu 37 21 45994492 45994492 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 21 45994492 45994492 C G SNP KRTAP10-4 ENST00000400374 human ensembl 69_37n +1 known missense c.857 p.S286C 0.000 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 74 0 0.00 95 41 30.15 - - - LHX9 0 genome.wustl.edu 37 1 197898203 197898203 + Silent SNP A A G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 197898203 197898203 A G SNP LHX9 ENST00000367387 human ensembl 69_37n +1 known silent c.1008 p.K336 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX9 HGNC ENSG00000143355 37 0 0.00 25 32 56.14 - - - LILRB5 0 genome.wustl.edu 37 19 54760586 54760586 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 54760586 54760586 G A SNP LILRB5 ENST00000450632 human ensembl 69_37n -1 known missense c.121 p.R41W 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC ENSG00000105609 42 0 0.00 41 25 37.88 - - - LRRC37A5P 0 genome.wustl.edu 37 9 114371402 114371402 + RNA SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 9 114371402 114371402 G C SNP LRRC37A5P ENST00000374304 human ensembl 69_37n -1 known rna NULL NULL 0.043 - - - no_errors LRRC37A5P HGNC ENSG00000204173 31 0 0.00 46 12 20.69 - - - LRTOMT 0 genome.wustl.edu 37 11 71819713 71819713 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 11 71819713 71819713 G A SNP LRTOMT ENST00000307198 human ensembl 69_37n +1 known silent c.618 p.L206 0.630 pfam_O-MeTrfase_3 pfam_O-MeTrfase_3 - no_errors LRTOMT HGNC ENSG00000184154 17 0 0.00 37 12 24.00 - - - LY75 0 genome.wustl.edu 37 2 160667156 160667156 + Nonsense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 160667156 160667156 G C SNP LY75 ENST00000554112 human ensembl 69_37n -1 known nonsense c.4580 p.S1527* 0.995 superfamily_C-type_lectin_fold pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 52 0 0.00 57 21 26.92 - - - MACF1 0 genome.wustl.edu 37 1 39824490 39824490 + Nonsense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 39824490 39824490 C G SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known nonsense c.5879 p.S1960* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 26 0 0.00 26 16 38.10 - - - MAGEA3 0 genome.wustl.edu 37 X 151935227 151935227 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 X 151935227 151935227 C T SNP MAGEA3 ENST00000370278 human ensembl 69_37n -1 known missense c.940 p.E314K 0.038 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 89 0 0.00 76 32 29.09 - - - MAPK4 0 genome.wustl.edu 37 18 48255621 48255621 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 18 48255621 48255621 G A SNP MAPK4 ENST00000400384 human ensembl 69_37n +1 known silent c.1161 p.A387 0.047 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 19 0 0.00 11 8 42.11 - - - MARCH7 0 genome.wustl.edu 37 2 160619400 160619400 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 160619400 160619400 G C SNP MARCH7 ENST00000259050 human ensembl 69_37n +1 known missense c.1903 p.E635Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 78 0 0.00 95 43 31.16 - - - MASP1 0 genome.wustl.edu 37 3 187009524 187009524 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 187009524 187009524 C T SNP MASP1 ENST00000439271 human ensembl 69_37n -1 putative silent c.36 p.Q12 1.000 NULL pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB - no_stop_codon:bad_bp_length_for_coding_region MASP1 HGNC ENSG00000127241 27 0 0.00 24 19 44.19 - - - MAST4 0 genome.wustl.edu 37 5 66398395 66398395 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 5 66398395 66398395 G A SNP MAST4 ENST00000404260 human ensembl 69_37n +1 known missense c.1111 p.E371K 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 95 0 0.00 63 31 32.98 - - - MBD6 0 genome.wustl.edu 37 12 57920417 57920417 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 57920417 57920417 G A SNP MBD6 ENST00000355673 human ensembl 69_37n +1 known missense c.1489 p.E497K 0.865 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 12 0 0.00 15 8 34.78 - - - MCOLN3 0 genome.wustl.edu 37 1 85506704 85506704 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 85506704 85506704 C G SNP MCOLN3 ENST00000302814 human ensembl 69_37n -1 known missense c.385 p.A129P 0.997 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 89 0 0.00 106 59 35.76 - - - MED27 0 genome.wustl.edu 37 9 134736049 134736049 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 9 134736049 134736049 C A SNP MED27 ENST00000292035 human ensembl 69_37n -1 known missense c.812 p.R271I 1.000 pfam_Mediator_Med27 pfam_Mediator_Med27 - no_errors MED27 HGNC ENSG00000160563 28 0 0.00 17 40 70.18 - - - MSH2 0 genome.wustl.edu 37 2 47693816 47693816 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 47693816 47693816 G C SNP MSH2 ENST00000233146 human ensembl 69_37n +1 known missense c.1530 p.Q510H 1.000 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 57 0 0.00 40 18 31.03 - - - MUC16 0 genome.wustl.edu 37 19 8976844 8976844 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 8976844 8976844 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.42222 p.L14074 0.022 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 100 0 0.00 65 45 40.91 - - - MYH7B 0 genome.wustl.edu 37 20 33586315 33586315 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 33586315 33586315 G A SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel silent c.4002 p.G1334 0.983 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 29 0 0.00 26 17 39.53 - - - NIN 0 genome.wustl.edu 37 14 51219447 51219447 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 14 51219447 51219447 G A SNP NIN ENST00000245441 human ensembl 69_37n -1 known missense c.4739 p.S1580L 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 109 0 0.00 64 46 41.82 - - - NIN 0 genome.wustl.edu 37 14 51233599 51233599 + Missense_Mutation SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 14 51233599 51233599 G T SNP NIN ENST00000245441 human ensembl 69_37n -1 known missense c.1444 p.R482S 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 118 0 0.00 119 72 37.70 - - - NINL 0 genome.wustl.edu 37 20 25436389 25436389 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 25436389 25436389 C T SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.3877 p.E1293K 0.306 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 121 0 0.00 38 52 57.78 - - - NINL 0 genome.wustl.edu 37 20 25443172 25443172 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 25443172 25443172 C T SNP NINL ENST00000336104 human ensembl 69_37n -1 known missense c.286 p.E96K 0.996 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NINL HGNC ENSG00000101004 72 0 0.00 20 28 58.33 - - - NSMCE1 0 genome.wustl.edu 37 16 27238062 27238062 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 27238062 27238062 G A SNP NSMCE1 ENST00000361439 human ensembl 69_37n -1 known silent c.579 p.I193 1.000 pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING pfam_SMC_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING - no_errors NSMCE1 HGNC ENSG00000169189 30 0 0.00 28 7 20.00 - - - NUDT17 0 genome.wustl.edu 37 1 145588435 145588435 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 145588435 145588435 C T SNP NUDT17 ENST00000444015 human ensembl 69_37n -1 known missense c.118 p.E40K 0.508 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NUDT17 HGNC ENSG00000186364 56 0 0.00 48 25 34.25 - - - NWD1 0 genome.wustl.edu 37 19 16860225 16860225 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 16860225 16860225 C G SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known missense c.772 p.H258D 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 19 0 0.00 14 12 46.15 - - - OR5H14 0 genome.wustl.edu 37 3 97868793 97868793 + Silent SNP T T C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 97868793 97868793 T C SNP OR5H14 ENST00000437310 human ensembl 69_37n +1 known silent c.564 p.S188 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 163 0 0.00 138 74 34.91 - - - PAPLN 0 genome.wustl.edu 37 14 73729310 73729310 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 14 73729310 73729310 C A SNP PAPLN ENST00000427855 human ensembl 69_37n +1 known missense c.2498 p.A833E 0.004 NULL pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like - no_errors PAPLN HGNC ENSG00000100767 9 0 0.00 11 7 38.89 - - - PARD6B 0 genome.wustl.edu 37 20 49366546 49366546 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 49366546 49366546 G A SNP PARD6B ENST00000371610 human ensembl 69_37n +1 known missense c.640 p.E214K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 75 0 0.00 44 10 18.52 - - - PBRM1 0 genome.wustl.edu 37 3 52584783 52584783 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 52584783 52584783 C G SNP PBRM1 ENST00000296302 human ensembl 69_37n -1 known missense c.4660 p.G1554R 1.000 NULL pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 54 0 0.00 34 14 29.17 - - - PDCD11 0 genome.wustl.edu 37 10 105176260 105176260 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 10 105176260 105176260 G C SNP PDCD11 ENST00000369797 human ensembl 69_37n +1 known missense c.1531 p.D511H 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 64 0 0.00 37 17 31.48 - - - PIKFYVE 0 genome.wustl.edu 37 2 209190674 209190674 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 209190674 209190674 C G SNP PIKFYVE ENST00000264380 human ensembl 69_37n +1 known missense c.3139 p.Q1047E 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 53 0 0.00 46 21 31.34 - - - PLBD1 0 genome.wustl.edu 37 12 14688722 14688722 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 14688722 14688722 C T SNP PLBD1 ENST00000240617 human ensembl 69_37n -1 known missense c.715 p.E239K 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 57 0 0.00 54 26 32.50 - - - PSG4 0 genome.wustl.edu 37 19 43699148 43699148 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 43699148 43699148 G A SNP PSG4 ENST00000405312 human ensembl 69_37n -1 known silent c.987 p.L329 0.476 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG4 HGNC ENSG00000243137 131 0 0.00 110 89 44.72 - - - PTPRZ1 0 genome.wustl.edu 37 7 121650745 121650745 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 7 121650745 121650745 C G SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known missense c.1645 p.P549A 0.079 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 46 0 0.00 30 9 23.08 - - - PYGL 0 genome.wustl.edu 37 14 51376618 51376618 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 14 51376618 51376618 C G SNP PYGL ENST00000216392 human ensembl 69_37n -1 known missense c.2172 p.K724N 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 66 0 0.00 46 31 40.26 - - - RAB11FIP4 0 genome.wustl.edu 37 17 29761087 29761087 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 29761087 29761087 G C SNP RAB11FIP4 ENST00000325874 human ensembl 69_37n +1 known missense c.283 p.E95Q 0.995 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2 - no_errors RAB11FIP4 HGNC ENSG00000131242 19 0 0.00 51 13 20.31 - - - RBAK 0 genome.wustl.edu 37 7 5103430 5103430 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 7 5103430 5103430 G C SNP RBAK ENST00000353796 human ensembl 69_37n +1 known missense c.343 p.E115Q 0.115 NULL 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 RBAK HGNC ENSG00000146587 88 0 0.00 16 41 71.93 - - - RFWD3 0 genome.wustl.edu 37 16 74670451 74670451 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 74670451 74670451 G C SNP RFWD3 ENST00000361070 human ensembl 69_37n -1 known missense c.1219 p.Q407E 0.014 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 62 0 0.00 29 36 55.38 - - - RNU2-2 0 genome.wustl.edu 37 11 62609220 62609220 + RNA SNP A A G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 11 62609220 62609220 A G SNP RNU2-2 ENST00000410396 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RNU2-2 HGNC ENSG00000222328 19 0 0.00 9 6 40.00 - - - SCN8A 0 genome.wustl.edu 37 12 52082602 52082602 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 52082602 52082602 G A SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known silent c.675 p.L225 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 144 0 0.00 127 71 35.86 - - - SDR42E1 0 genome.wustl.edu 37 16 82033756 82033756 + Missense_Mutation SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 82033756 82033756 G T SNP SDR42E1 ENST00000328945 human ensembl 69_37n -1 known missense c.142 p.P48T 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like - no_errors SDR42E1 HGNC ENSG00000184860 68 0 0.00 40 39 49.37 - - - SETD1A 0 genome.wustl.edu 37 16 30976309 30976309 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 30976309 30976309 G A SNP SETD1A ENST00000262519 human ensembl 69_37n +1 known missense c.1246 p.E416K 0.822 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 17 0 0.00 33 10 23.26 - - - SIGLEC6 0 genome.wustl.edu 37 19 52032988 52032988 + Silent SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 52032988 52032988 G T SNP SIGLEC6 ENST00000425629 human ensembl 69_37n -1 known silent c.1002 p.L334 0.055 pfam_Ig_I-set,smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC ENSG00000105492 73 0 0.00 63 30 31.91 - - - SLC2A10 0 genome.wustl.edu 37 20 45354882 45354882 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 45354882 45354882 C T SNP SLC2A10 ENST00000359271 human ensembl 69_37n +1 known missense c.1207 p.R403W 0.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 32 0 0.00 19 17 47.22 - - - SLC5A11 0 genome.wustl.edu 37 16 24921688 24921688 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 24921688 24921688 C T SNP SLC5A11 ENST00000347898 human ensembl 69_37n +1 known missense c.1712 p.P571L 0.380 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 36 0 0.00 81 47 36.43 - - - SLC6A16 0 genome.wustl.edu 37 19 49796530 49796530 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 49796530 49796530 G A SNP SLC6A16 ENST00000335875 human ensembl 69_37n -1 known silent c.1728 p.V576 0.018 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 36 0 0.00 50 7 12.28 - - - SLC9A8 0 genome.wustl.edu 37 20 48491270 48491270 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 48491270 48491270 C G SNP SLC9A8 ENST00000417961 human ensembl 69_37n +1 known missense c.1035 p.I345M 0.911 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 78 0 0.00 96 54 36.00 - - - SLCO1B3 0 genome.wustl.edu 37 12 21033899 21033899 + Missense_Mutation SNP A A T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 12 21033899 21033899 A T SNP SLCO1B3 ENST00000553473 human ensembl 69_37n +1 known missense c.1442 p.Y481F 0.872 pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 83 0 0.00 81 40 32.52 - - - SLITRK3 0 genome.wustl.edu 37 3 164908085 164908085 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 164908085 164908085 C T SNP SLITRK3 ENST00000241274 human ensembl 69_37n -1 known silent c.534 p.L178 0.949 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 52 0 0.00 52 22 29.73 - - - SMC1B 0 genome.wustl.edu 37 22 45785753 45785753 + Missense_Mutation SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 22 45785753 45785753 G T SNP SMC1B ENST00000357450 human ensembl 69_37n -1 known missense c.1570 p.H524N 1.000 pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 53 0 0.00 42 32 43.24 - - - SOAT1 0 genome.wustl.edu 37 1 179310328 179310328 + Silent SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 179310328 179310328 C A SNP SOAT1 ENST00000367619 human ensembl 69_37n +1 known silent c.663 p.L221 0.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 102 0 0.00 148 69 31.80 - - - SSX6 0 genome.wustl.edu 37 X 47976517 47976517 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 X 47976517 47976517 C T SNP SSX6 ENST00000376932 human ensembl 69_37n +1 known missense c.454 p.H152Y 0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX6 HGNC ENSG00000171483 134 0 0.00 70 44 38.60 - - - STAC 0 genome.wustl.edu 37 3 36484978 36484978 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 36484978 36484978 G A SNP STAC ENST00000273183 human ensembl 69_37n +1 known silent c.234 p.E78 0.008 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors STAC HGNC ENSG00000144681 37 0 0.00 25 15 37.50 - - - STAU1 0 genome.wustl.edu 37 20 47768247 47768247 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 47768247 47768247 G C SNP STAU1 ENST00000371856 human ensembl 69_37n -1 known missense c.382 p.Q128E 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU1 HGNC ENSG00000124214 110 0 0.00 105 60 36.36 - - - SUMO1 0 genome.wustl.edu 37 2 203079096 203079096 + Nonsense_Mutation SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 203079096 203079096 G T SNP SUMO1 ENST00000392245 human ensembl 69_37n -1 known nonsense c.149 p.S50* 1.000 pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors SUMO1 HGNC ENSG00000116030 176 0 0.00 140 51 26.70 - - - SUPT6H 0 genome.wustl.edu 37 17 27000441 27000441 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 27000441 27000441 G A SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known missense c.22 p.E8K 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 74 0 0.00 83 38 31.40 - - - SYNE1 0 genome.wustl.edu 37 6 152847287 152847287 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 6 152847287 152847287 G A SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.153 p.D51 0.987 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 47 0 0.00 38 16 29.63 - - - TAF1L 0 genome.wustl.edu 37 9 32631492 32631492 + Silent SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 9 32631492 32631492 G C SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known silent c.4086 p.L1362 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 131 0 0.00 55 60 52.17 - - - TBC1D10B 0 genome.wustl.edu 37 16 30369766 30369766 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 16 30369766 30369766 G C SNP TBC1D10B ENST00000409939 human ensembl 69_37n -1 known missense c.1926 p.I642M 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 18 0 0.00 22 15 40.54 - - - TDRD1 0 genome.wustl.edu 37 10 115986858 115986858 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 10 115986858 115986858 C G SNP TDRD1 ENST00000251864 human ensembl 69_37n +1 known missense c.3203 p.S1068C 1.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 30 0 0.00 28 13 31.71 - - - THSD7B 0 genome.wustl.edu 37 2 137852504 137852504 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 137852504 137852504 G A SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known missense c.1012 p.E338K 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 78 0 0.00 66 39 37.14 - - - TNFAIP6 0 genome.wustl.edu 37 2 152230093 152230093 + Silent SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 152230093 152230093 C A SNP TNFAIP6 ENST00000243347 human ensembl 69_37n +1 known silent c.654 p.I218 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 126 0 0.00 87 55 38.73 - - - TP53 0 genome.wustl.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 7578413 7578413 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.517 p.V173L 0.996 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 40 0 0.00 12 14 53.85 - - - TPD52 0 genome.wustl.edu 37 8 80956423 80956423 + Nonsense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 8 80956423 80956423 G C SNP TPD52 ENST00000448733 human ensembl 69_37n -1 known nonsense c.527 p.S176* 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52 HGNC ENSG00000076554 67 0 0.00 75 40 34.78 - - - TRAF5 0 genome.wustl.edu 37 1 211526585 211526585 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 211526585 211526585 G C SNP TRAF5 ENST00000261464 human ensembl 69_37n +1 known missense c.4 p.A2P 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 47 0 0.00 37 43 53.75 - - - TRPM6 0 genome.wustl.edu 37 9 77397680 77397680 + Missense_Mutation SNP C C A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 9 77397680 77397680 C A SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.3009 p.E1003D 0.967 pfam_Ion_trans_dom pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 78 0 0.00 77 17 18.09 - - - TSPYL2 0 genome.wustl.edu 37 X 53115366 53115366 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 X 53115366 53115366 G A SNP TSPYL2 ENST00000375442 human ensembl 69_37n +1 known missense c.1792 p.D598N 1.000 NULL pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 102 0 0.00 46 54 54.00 - - - TTN 0 genome.wustl.edu 37 2 179469849 179469849 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 179469849 179469849 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.46351 p.E15451K 1.000 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 79 0 0.00 88 56 38.89 - - - TTN 0 genome.wustl.edu 37 2 179613383 179613383 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 179613383 179613383 G C SNP TTN ENST00000360870 human ensembl 69_37n -1 known missense c.13744 p.Q4582E 0.002 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 100 0 0.00 72 60 45.45 - - - TUBGCP6 0 genome.wustl.edu 37 22 50665188 50665188 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 22 50665188 50665188 C T SNP TUBGCP6 ENST00000248846 human ensembl 69_37n -1 known silent c.1575 p.L525 0.993 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 22 0 0.00 25 10 28.57 - - - TXLNB 0 genome.wustl.edu 37 6 139569014 139569014 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 6 139569014 139569014 G C SNP TXLNB ENST00000358430 human ensembl 69_37n -1 known missense c.1110 p.F370L 1.000 pfam_Taxilin pfam_Taxilin - no_errors TXLNB HGNC ENSG00000164440 101 0 0.00 96 51 34.69 - - - UBAP2L 0 genome.wustl.edu 37 1 154241261 154241261 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 154241261 154241261 C T SNP UBAP2L ENST00000361546 human ensembl 69_37n +1 known missense c.2999 p.S1000F 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 66 0 0.00 48 44 47.83 - - - UBE4B 0 genome.wustl.edu 37 1 10190626 10190626 + Silent SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 10190626 10190626 C G SNP UBE4B ENST00000343090 human ensembl 69_37n +1 known silent c.1764 p.L588 0.651 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 101 0 0.00 93 51 35.42 - - - UNC80 0 genome.wustl.edu 37 2 210782561 210782561 + Nonsense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 210782561 210782561 C G SNP UNC80 ENST00000439458 human ensembl 69_37n +1 known nonsense c.4892 p.S1631* 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 56 0 0.00 52 38 42.22 - - - URB2 0 genome.wustl.edu 37 1 229770771 229770771 + Silent SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 229770771 229770771 C T SNP URB2 ENST00000258243 human ensembl 69_37n +1 known silent c.411 p.V137 0.946 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 33 0 0.00 28 35 55.56 - - - USE1 0 genome.wustl.edu 37 19 17330038 17330038 + Nonsense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 17330038 17330038 C T SNP USE1 ENST00000263897 human ensembl 69_37n +1 known nonsense c.439 p.Q147* 0.098 pfam_Vesicle_transport_protein_Use1 pfam_Vesicle_transport_protein_Use1 - no_errors USE1 HGNC ENSG00000053501 43 0 0.00 20 11 35.48 - - - USP6 0 genome.wustl.edu 37 17 5048769 5048769 + Nonsense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 5048769 5048769 C T SNP USP6 ENST00000250066 human ensembl 69_37n +1 known nonsense c.2062 p.Q688* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 168 0 0.00 124 15 10.71 - - - WDR64 0 genome.wustl.edu 37 1 241886720 241886720 + Silent SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 1 241886720 241886720 C G SNP WDR64 ENST00000366552 human ensembl 69_37n +1 known silent c.1146 p.V382 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_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 49 0 0.00 51 35 40.23 - - - WNK4 0 genome.wustl.edu 37 17 40948000 40948000 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 17 40948000 40948000 G A SNP WNK4 ENST00000246914 human ensembl 69_37n +1 known missense c.3380 p.S1127N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 43 0 0.00 17 23 57.50 - - - XIRP2 0 genome.wustl.edu 37 2 168106216 168106216 + Nonsense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 2 168106216 168106216 C T SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known nonsense c.8314 p.Q2772* 0.485 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 25 0 0.00 27 9 23.68 - - - ZBBX 0 genome.wustl.edu 37 3 167051719 167051719 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 3 167051719 167051719 C T SNP ZBBX ENST00000307529 human ensembl 69_37n -1 known missense c.583 p.D195N 0.617 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 114 0 0.00 131 44 25.14 - - - ZCCHC6 0 genome.wustl.edu 37 9 88916365 88916365 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 9 88916365 88916365 G C SNP ZCCHC6 ENST00000375963 human ensembl 69_37n -1 known missense c.4246 p.Q1416E 0.899 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 136 0 0.00 126 62 32.80 - - - ZNF334 0 genome.wustl.edu 37 20 45131108 45131108 + Missense_Mutation SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 20 45131108 45131108 C G SNP ZNF334 ENST00000347606 human ensembl 69_37n -1 known missense c.870 p.E290D 0.166 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 47 0 0.00 45 28 38.36 - - - ZNF460 0 genome.wustl.edu 37 19 57802084 57802084 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 57802084 57802084 G A SNP ZNF460 ENST00000360338 human ensembl 69_37n +1 known missense c.175 p.E59K 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF460 HGNC ENSG00000197714 15 0 0.00 23 12 34.29 - - - ZNF532 0 genome.wustl.edu 37 18 56587083 56587083 + Missense_Mutation SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 18 56587083 56587083 G T SNP ZNF532 ENST00000336078 human ensembl 69_37n +1 known missense c.1564 p.V522L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 34 0 0.00 26 19 42.22 - - - ZNF564 0 genome.wustl.edu 37 19 12638670 12638670 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 12638670 12638670 G A SNP ZNF564 ENST00000339282 human ensembl 69_37n -1 known silent c.252 p.F84 0.782 NULL 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 ZNF564 HGNC ENSG00000249709 35 0 0.00 28 15 34.88 - - - ZNF846 0 genome.wustl.edu 37 19 9868536 9868536 + Missense_Mutation SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 9868536 9868536 G A SNP ZNF846 ENST00000397902 human ensembl 69_37n -1 known missense c.1217 p.S406F 0.000 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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 106 0 0.00 57 33 36.26 - - - ZSCAN5C 0 genome.wustl.edu 37 19 56720231 56720231 + Nonsense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6627e4b1-b34c-4aa2-836e-093061442a6d 6014c1c1-0619-4ea0-9f83-1e7a2523a083 19 56720231 56720231 C T SNP ZSCAN5C ENST00000376267 human ensembl 69_37n +1 known nonsense c.1153 p.Q385* 0.076 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 46 0 0.00 36 15 28.85 - - -