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 ABCC8 0 genome.wustl.edu 37 11 17464360 17464360 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 11 17464360 17464360 C T SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known missense c.1537 p.A513T 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,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 118 0 0.00 70 53 43.09 - - - ABCF1 0 genome.wustl.edu 37 6 30558114 30558114 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 6 30558114 30558114 C T SNP ABCF1 ENST00000326195 human ensembl 69_37n +1 known missense c.2330 p.S777F 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 338 0 0.00 326 191 36.87 - - - ACSM2B 0 genome.wustl.edu 37 16 20554293 20554293 + Silent SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 16 20554293 20554293 C T SNP ACSM2B ENST00000329697 human ensembl 69_37n -1 known silent c.1452 p.K484 0.998 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 141 0 0.00 167 104 37.82 - - - AFAP1L1 0 genome.wustl.edu 37 5 148702185 148702185 + Missense_Mutation SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 5 148702185 148702185 G A SNP AFAP1L1 ENST00000296721 human ensembl 69_37n +1 known missense c.1715 p.R572H 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 11 0 0.00 7 7 50.00 - - - ALMS1 0 genome.wustl.edu 37 2 73646388 73646388 + Silent SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 2 73646388 73646388 G A SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known silent c.588 p.T196 0.009 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 358 1 0.28 776 109 12.32 - - - ANGPT4 0 genome.wustl.edu 37 20 896809 896809 + Missense_Mutation SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 20 896809 896809 C A SNP ANGPT4 ENST00000381922 human ensembl 69_37n -1 known missense c.49 p.A17S 0.163 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 223 0 0.00 228 31 11.97 - - - ANKFY1 0 genome.wustl.edu 37 17 4085564 4085564 + Missense_Mutation SNP C C G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 17 4085564 4085564 C G SNP ANKFY1 ENST00000570535 human ensembl 69_37n -1 known missense c.2159 p.G720A 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 145 1 0.68 316 46 12.71 - - - ATXN2L 0 genome.wustl.edu 37 16 28843677 28843677 + Silent SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 16 28843677 28843677 C T SNP ATXN2L ENST00000395547 human ensembl 69_37n +1 known silent c.1473 p.S491 0.977 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 45 0 0.00 90 22 19.64 - - - CABP5 0 genome.wustl.edu 37 19 48542565 48542565 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 19 48542565 48542565 C T SNP CABP5 ENST00000293255 human ensembl 69_37n -1 known missense c.248 p.R83H 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP5 HGNC ENSG00000105507 175 0 0.00 108 145 57.09 - - - CACNA1B 0 genome.wustl.edu 37 9 140953542 140953542 + Silent SNP A A T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 9 140953542 140953542 A T SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known silent c.4488 p.A1496 0.007 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 14 0 0.00 15 6 27.27 - - - CCDC83 0 genome.wustl.edu 37 11 85593657 85593659 + In_Frame_Del DEL TGT TGT - TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 11 85593657 85593659 TGT - DEL CCDC83 ENST00000280245 human ensembl 69_37n +1 known in_frame_del c.282_284 p.V95in_frame_del 0.558:0.937:0.949 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 194 0 0.00 181 242 54.75 - - - CDHR1 0 genome.wustl.edu 37 10 85956341 85956341 + Missense_Mutation SNP A A G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 10 85956341 85956341 A G SNP CDHR1 ENST00000372117 human ensembl 69_37n +1 known missense c.232 p.R78G 0.979 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 35 0 0.00 46 35 43.21 - - - CDKN2AIP 0 genome.wustl.edu 37 4 184367943 184367943 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 4 184367943 184367943 C T SNP CDKN2AIP ENST00000504169 human ensembl 69_37n +1 known missense c.1106 p.S369L 0.679 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC ENSG00000168564 38 0 0.00 132 26 16.35 - - - CEP135 0 genome.wustl.edu 37 4 56819315 56819315 + Missense_Mutation SNP G G C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 4 56819315 56819315 G C SNP CEP135 ENST00000257287 human ensembl 69_37n +1 known missense c.178 p.E60Q 1.000 NULL superfamily_Prefoldin - no_errors CEP135 HGNC ENSG00000174799 14 0 0.00 37 8 17.78 - - - CLCN3 0 genome.wustl.edu 37 4 170610225 170610225 + Silent SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 4 170610225 170610225 C T SNP CLCN3 ENST00000347613 human ensembl 69_37n +1 known silent c.450 p.A150 0.929 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 50 0 0.00 70 133 65.20 - - - COL6A3 0 genome.wustl.edu 37 2 238280902 238280902 + Missense_Mutation SNP G G T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 2 238280902 238280902 G T SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known missense c.3758 p.T1253N 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 84 0 0.00 49 44 46.81 - - - CYLC1 0 genome.wustl.edu 37 X 83128429 83128429 + Missense_Mutation SNP G G T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c X 83128429 83128429 G T SNP CYLC1 ENST00000329312 human ensembl 69_37n +1 known missense c.713 p.C238F 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 169 0 0.00 66 119 64.32 - - - DLGAP1-AS1 0 genome.wustl.edu 37 18 3597178 3597178 + RNA SNP A A G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 18 3597178 3597178 A G SNP DLGAP1-AS1 ENST00000317114 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DLGAP1-AS1 HGNC ENSG00000177337 139 0 0.00 38 68 64.15 - - - DNAH9 0 genome.wustl.edu 37 17 11687759 11687759 + Missense_Mutation SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 17 11687759 11687759 C A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.7964 p.A2655D 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 493 0 0.00 342 127 27.08 - - - DNAJC13 0 genome.wustl.edu 37 3 132193880 132193880 + Missense_Mutation SNP G G C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 3 132193880 132193880 G C SNP DNAJC13 ENST00000260818 human ensembl 69_37n +1 known missense c.2396 p.R799T 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 47 0 0.00 111 16 12.60 - - - DSE 0 genome.wustl.edu 37 6 116756906 116756906 + Silent SNP T T C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 6 116756906 116756906 T C SNP DSE ENST00000537543 human ensembl 69_37n +1 known silent c.1332 p.R444 1.000 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 99 0 0.00 97 24 19.83 - - - DSEL 0 genome.wustl.edu 37 18 65180116 65180116 + Missense_Mutation SNP T T G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 18 65180116 65180116 T G SNP DSEL ENST00000310045 human ensembl 69_37n -1 known missense c.1760 p.N587T 1.000 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 60 0 0.00 75 20 21.05 - - - EHMT2 0 genome.wustl.edu 37 6 31864886 31864887 + Frame_Shift_Ins INS - - C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 6 31864886 31864887 - C INS EHMT2 ENST00000395728 human ensembl 69_37n -1 known frame_shift_ins c.94_93 p.P31fs 0.000:0.001 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 8 0 0.00 22 4 15.38 - - - EML4 0 genome.wustl.edu 37 2 42472824 42472824 + Nonsense_Mutation SNP A A T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 2 42472824 42472824 A T SNP EML4 ENST00000318522 human ensembl 69_37n +1 known nonsense c.205 p.K69* 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 92 0 0.00 96 25 20.66 - - - FAM186B 0 genome.wustl.edu 37 12 49993820 49993820 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 12 49993820 49993820 C T SNP FAM186B ENST00000257894 human ensembl 69_37n -1 known missense c.1603 p.V535I 0.000 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 236 1 0.42 227 122 34.96 - - - FMN2 0 genome.wustl.edu 37 1 240601396 240601396 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 1 240601396 240601396 C T SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.4946 p.P1649L 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 232 0 0.00 401 46 10.29 - - - FRAS1 0 genome.wustl.edu 37 4 79391188 79391188 + Missense_Mutation SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 4 79391188 79391188 C A SNP FRAS1 ENST00000512123 human ensembl 69_37n +1 novel missense c.1999 p.H667N 0.997 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FRAS1 HGNC ENSG00000138759 130 0 0.00 123 28 18.54 - - - FREM1 0 genome.wustl.edu 37 9 14824844 14824844 + Missense_Mutation SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 9 14824844 14824844 C A SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.2031 p.R677S 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 85 0 0.00 61 18 22.78 - - - HADH 0 genome.wustl.edu 37 4 108948850 108948850 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 4 108948850 108948850 C T SNP HADH ENST00000403312 human ensembl 69_37n +1 known missense c.643 p.P215S 1.000 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC ENSG00000138796 248 0 0.00 618 109 14.97 - - - HRG 0 genome.wustl.edu 37 3 186383974 186383974 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 3 186383974 186383974 C T SNP HRG ENST00000232003 human ensembl 69_37n +1 known missense c.154 p.R52W 1.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 86 0 0.00 81 15 15.62 - - - IKZF3 0 genome.wustl.edu 37 17 37922577 37922577 + Silent SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 17 37922577 37922577 C T SNP IKZF3 ENST00000346872 human ensembl 69_37n -1 known silent c.996 p.S332 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 46 0 0.00 56 16 21.92 - - - IL1R2 0 genome.wustl.edu 37 2 102644698 102644698 + Silent SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 2 102644698 102644698 G A SNP IL1R2 ENST00000332549 human ensembl 69_37n +1 known silent c.1041 p.T347 0.485 pfscan_Ig-like,prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC ENSG00000115590 83 0 0.00 95 25 20.83 - - - ITPR2 0 genome.wustl.edu 37 12 26647218 26647218 + Silent SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 12 26647218 26647218 C T SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known silent c.5238 p.Q1746 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 249 0 0.00 460 71 13.37 - - - KCNJ3 0 genome.wustl.edu 37 2 155555500 155555500 + Silent SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 2 155555500 155555500 C T SNP KCNJ3 ENST00000295101 human ensembl 69_37n +1 known silent c.213 p.L71 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir_Cr2 - no_errors KCNJ3 HGNC ENSG00000162989 22 0 0.00 26 15 36.59 - - - KCNK18 0 genome.wustl.edu 37 10 118969045 118969045 + Missense_Mutation SNP G G C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 10 118969045 118969045 G C SNP KCNK18 ENST00000334549 human ensembl 69_37n +1 known missense c.390 p.K130N 0.738 pfam_Ion_trans_2,prints_2pore_dom_K_chnl pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 161 0 0.00 113 58 33.92 - - - KSR1 0 genome.wustl.edu 37 17 25910015 25910016 + Frame_Shift_Ins INS - - C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 17 25910015 25910016 - C INS KSR1 ENST00000319524 human ensembl 69_37n +1 known frame_shift_ins c.864_865 p.P291fs 0.261:0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 9 0 0.00 8 3 27.27 - - - KSR2 0 genome.wustl.edu 37 12 117922315 117922315 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 12 117922315 117922315 C T SNP KSR2 ENST00000339824 human ensembl 69_37n -1 known missense c.2356 p.D786N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 74 0 0.00 33 46 58.23 - - - LARP1 0 genome.wustl.edu 37 5 154169889 154169890 + Frame_Shift_Del DEL CT CT - TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 5 154169889 154169890 CT - DEL LARP1 ENST00000336314 human ensembl 69_37n +1 known frame_shift_del c.210_211 p.S71fs 0.980:0.979 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 41 0 0.00 56 9 13.85 - - - LRRC73 0 genome.wustl.edu 37 6 43476519 43476519 + Missense_Mutation SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 6 43476519 43476519 G A SNP LRRC73 ENST00000372441 human ensembl 69_37n -1 novel missense c.412 p.P138S 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC73 HGNC ENSG00000204052 8 0 0.00 12 8 40.00 - - - LTBP2 0 genome.wustl.edu 37 14 74967606 74967607 + Frame_Shift_Ins INS - - G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 14 74967606 74967607 - G INS LTBP2 ENST00000261978 human ensembl 69_37n -1 known frame_shift_ins c.5447_5446 p.H1816fs 0.813:0.817 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 30 0 0.00 25 4 13.79 - - - MCM3AP 0 genome.wustl.edu 37 21 47703566 47703566 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 21 47703566 47703566 C T SNP MCM3AP ENST00000291688 human ensembl 69_37n -1 known missense c.1406 p.R469H 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 27 0 0.00 37 16 30.19 - - - MCMBP 0 genome.wustl.edu 37 10 121602080 121602080 + Missense_Mutation SNP G G C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 10 121602080 121602080 G C SNP MCMBP ENST00000360003 human ensembl 69_37n -1 known missense c.1034 p.S345C 1.000 pfam_MCM_complex-bd pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 226 0 0.00 159 68 29.96 - - - MUC16 0 genome.wustl.edu 37 19 9061493 9061493 + Silent SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 19 9061493 9061493 C A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.25953 p.G8651 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 298 0 0.00 317 82 20.55 - - - MYRIP 0 genome.wustl.edu 37 3 40231954 40231954 + Missense_Mutation SNP G G C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 3 40231954 40231954 G C SNP MYRIP ENST00000302541 human ensembl 69_37n +1 known missense c.1665 p.Q555H 1.000 pfam_Myelin-assoc_OBP pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 101 0 0.00 60 20 25.00 - - - NEK6 0 genome.wustl.edu 37 9 127083782 127083782 + Silent SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 9 127083782 127083782 C T SNP NEK6 ENST00000373600 human ensembl 69_37n +1 known silent c.441 p.I147 0.906 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 43 0 0.00 32 9 21.95 - - - NFYC 0 genome.wustl.edu 37 1 41236181 41236182 + Frame_Shift_Ins INS - - C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 1 41236181 41236182 - C INS NFYC ENST00000308733 human ensembl 69_37n +1 known frame_shift_ins c.1058_1059 p.S356fs 0.002:0.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 31 0 0.00 18 2 10.00 - - - OR5D16 0 genome.wustl.edu 37 11 55607024 55607024 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 11 55607024 55607024 C T SNP OR5D16 ENST00000378396 human ensembl 69_37n +1 known missense c.797 p.S266F 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5D16 HGNC ENSG00000205029 353 0 0.00 450 64 12.45 - - - OR5H2 0 genome.wustl.edu 37 3 98002278 98002278 + Missense_Mutation SNP T T G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 3 98002278 98002278 T G SNP OR5H2 ENST00000355273 human ensembl 69_37n +1 known missense c.547 p.Y183D 0.851 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H2 HGNC ENSG00000197938 226 0 0.00 145 145 50.00 - - - PAPPA 0 genome.wustl.edu 37 9 119144714 119144714 + Missense_Mutation SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 9 119144714 119144714 G A SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.4718 p.R1573Q 1.000 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 208 0 0.00 170 55 24.44 - - - PCDHB14 0 genome.wustl.edu 37 5 140604653 140604653 + Nonsense_Mutation SNP G G T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 5 140604653 140604653 G T SNP PCDHB14 ENST00000239449 human ensembl 69_37n +1 known nonsense c.1576 p.E526* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 18 0 0.00 29 18 38.30 - - - PDE4D 0 genome.wustl.edu 37 5 58271593 58271593 + Missense_Mutation SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 5 58271593 58271593 G A SNP PDE4D ENST00000340635 human ensembl 69_37n -1 known missense c.1904 p.T635M 1.000 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 125 0 0.00 179 41 18.64 - - - PEAK1 0 genome.wustl.edu 37 15 77425881 77425881 + Silent SNP A A G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 15 77425881 77425881 A G SNP PEAK1 ENST00000312493 human ensembl 69_37n -1 known silent c.3543 p.C1181 0.929 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Clone_based_vega_gene ENSG00000173517 220 1 0.45 165 56 25.34 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 196 0 0.00 237 119 33.43 - - - PLEKHH2 0 genome.wustl.edu 37 2 43919673 43919673 + Silent SNP A A G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 2 43919673 43919673 A G SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known silent c.207 p.K69 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 89 0 0.00 94 38 28.79 - - - PMS1 0 genome.wustl.edu 37 2 190742124 190742124 + Missense_Mutation SNP T T G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 2 190742124 190742124 T G SNP PMS1 ENST00000441310 human ensembl 69_37n +1 known missense c.2761 p.F921V 1.000 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 143 0 0.00 242 41 14.49 - - - PPP1R3A 0 genome.wustl.edu 37 7 113519206 113519206 + Silent SNP A A G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 7 113519206 113519206 A G SNP PPP1R3A ENST00000284601 human ensembl 69_37n -1 known silent c.1941 p.D647 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 625 1 0.16 421 199 32.10 - - - PROCR 0 genome.wustl.edu 37 20 33764038 33764038 + Missense_Mutation SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 20 33764038 33764038 C A SNP PROCR ENST00000216968 human ensembl 69_37n +1 known missense c.390 p.F130L 1.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 38 0 0.00 97 18 15.65 - - - PRTG 0 genome.wustl.edu 37 15 55970187 55970187 + Missense_Mutation SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 15 55970187 55970187 C A SNP PRTG ENST00000389286 human ensembl 69_37n -1 known missense c.1189 p.A397S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 88 0 0.00 62 17 21.52 - - - PTPRE 0 genome.wustl.edu 37 10 129866449 129866449 + Silent SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 10 129866449 129866449 C T SNP PTPRE ENST00000254667 human ensembl 69_37n +1 known silent c.906 p.P302 0.710 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 56 0 0.00 24 15 37.50 - - - PXDNL 0 genome.wustl.edu 37 8 52370199 52370199 + Nonsense_Mutation SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 8 52370199 52370199 G A SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known nonsense c.841 p.R281* 0.679 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDNL HGNC ENSG00000147485 419 0 0.00 751 130 14.76 - - - RAD54B 0 genome.wustl.edu 37 8 95423537 95423537 + Missense_Mutation SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 8 95423537 95423537 G A SNP RAD54B ENST00000336148 human ensembl 69_37n -1 known missense c.311 p.S104L 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 167 0 0.00 576 152 20.85 - - - RELN 0 genome.wustl.edu 37 7 103141338 103141338 + Missense_Mutation SNP A A C TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 7 103141338 103141338 A C SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.8521 p.S2841A 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 294 0 0.00 192 76 28.36 - - - RFPL1-AS1 0 genome.wustl.edu 37 22 29835545 29835546 + RNA INS - - G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 22 29835545 29835546 - G INS RFPL1-AS1 ENST00000461286 human ensembl 69_37n -1 known rna NULL NULL 0.002:0.002 - - - no_errors RFPL1-AS1 HGNC ENSG00000225465 16 0 0.00 15 3 16.67 - - - RFX4 0 genome.wustl.edu 37 12 107048049 107048049 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 12 107048049 107048049 C T SNP RFX4 ENST00000357881 human ensembl 69_37n +1 known missense c.262 p.R88C 0.954 pfam_DNA-bd_RFX pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 201 0 0.00 185 62 25.10 - - - RGS7 0 genome.wustl.edu 37 1 240990397 240990397 + Splice_Site SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 1 240990397 240990397 C A SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known splice_site c.684+1 e9+1 1.000 - - - no_errors RGS7 HGNC ENSG00000182901 24 0 0.00 89 21 19.09 - - - RYR2 0 genome.wustl.edu 37 1 237837413 237837413 + Missense_Mutation SNP C C A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 1 237837413 237837413 C A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.8602 p.L2868M 1.000 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 69 0 0.00 294 44 13.02 - - - SEC24A 0 genome.wustl.edu 37 5 134041046 134041046 + Frame_Shift_Del DEL T T - TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 5 134041046 134041046 T - DEL SEC24A ENST00000398844 human ensembl 69_37n +1 known frame_shift_del c.2470 p.C824fs 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 164 0 0.00 222 59 20.42 - - - SERF2 0 genome.wustl.edu 37 15 44085898 44085898 + Missense_Mutation SNP C C G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 15 44085898 44085898 C G SNP SERF2 ENST00000409960 human ensembl 69_37n +1 putative missense c.241 p.L81V 1.000 NULL pfam_Uncharacterised_SERF - no_errors SERF2 HGNC ENSG00000140264 108 0 0.00 91 34 27.20 - - - THEMIS 0 genome.wustl.edu 37 6 128222041 128222041 + Missense_Mutation SNP C C G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 6 128222041 128222041 C G SNP THEMIS ENST00000543064 human ensembl 69_37n -1 known missense c.37 p.D13H 0.996 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 271 0 0.00 630 110 14.82 - - - TOPORS 0 genome.wustl.edu 37 9 32544087 32544087 + Missense_Mutation SNP C C G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 9 32544087 32544087 C G SNP TOPORS ENST00000360538 human ensembl 69_37n -1 known missense c.436 p.D146H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 88 0 0.00 109 68 38.42 - - - TP53 0 genome.wustl.edu 37 17 7579364 7579364 + Frame_Shift_Del DEL C C - TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 17 7579364 7579364 C - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.323 p.G108fs 0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 220 0 0.00 84 113 55.94 - - - TPR 0 genome.wustl.edu 37 1 186303578 186303578 + Silent SNP A A T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 1 186303578 186303578 A T SNP TPR ENST00000367478 human ensembl 69_37n -1 known silent c.5061 p.A1687 0.997 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 149 0 0.00 201 42 17.28 - - - TSC1 0 genome.wustl.edu 37 9 135771828 135771828 + Missense_Mutation SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 9 135771828 135771828 G A SNP TSC1 ENST00000298552 human ensembl 69_37n -1 known missense c.3289 p.R1097C 1.000 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 84 0 0.00 69 26 27.37 - - - TTC14 0 genome.wustl.edu 37 3 180327846 180327846 + Missense_Mutation SNP G G A TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 3 180327846 180327846 G A SNP TTC14 ENST00000296015 human ensembl 69_37n +1 known missense c.1829 p.S610N 1.000 NULL pfam_TPR-1,superfamily_NA-bd_OB-fold-like,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 215 0 0.00 311 89 22.25 - - - TTC19 0 genome.wustl.edu 37 17 15929879 15929881 + In_Frame_Del DEL CTA CTA - TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 CTA CTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 17 15929879 15929881 CTA - DEL TTC19 ENST00000261647 human ensembl 69_37n +1 novel in_frame_del c.1220_1222 p.T409in_frame_del 1.000:0.814:0.997 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC ENSG00000011295 146 0 0.00 58 74 56.06 - - - URB2 0 genome.wustl.edu 37 1 229783409 229783409 + Silent SNP C C G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 1 229783409 229783409 C G SNP URB2 ENST00000258243 human ensembl 69_37n +1 known silent c.4059 p.V1353 0.982 pfam_Urb2/Npa2_C pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 103 0 0.00 163 25 13.30 - - - ZNF445 0 genome.wustl.edu 37 3 44496857 44496857 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 3 44496857 44496857 C T SNP ZNF445 ENST00000396077 human ensembl 69_37n -1 known missense c.185 p.R62H 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 122 0 0.00 76 73 48.99 - - - ZNF498 0 genome.wustl.edu 37 7 99227257 99227258 + Frame_Shift_Del DEL CA CA - TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 7 99227257 99227258 CA - DEL ZNF498 ENST00000334715 human ensembl 69_37n +1 known frame_shift_del c.1249_1250 p.H417fs 0.986:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF498 HGNC ENSG00000197037 89 0 0.00 76 32 29.36 - - - ZNF498 0 genome.wustl.edu 37 7 99227260 99227260 + Missense_Mutation SNP C C G TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 7 99227260 99227260 C G SNP ZNF498 ENST00000334715 human ensembl 69_37n +1 known missense c.1252 p.L418V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF498 HGNC ENSG00000197037 91 0 0.00 72 36 33.33 - - - ZNF609 0 genome.wustl.edu 37 15 64915059 64915059 + Missense_Mutation SNP C C T TCGA-AN-A0AJ-01A-11W-A019-09 TCGA-AN-A0AJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97fbce82-0eed-4d70-9af2-57918a4ea8da 4450b82b-beee-4327-a851-3b7488a3273c 15 64915059 64915059 C T SNP ZNF609 ENST00000326648 human ensembl 69_37n +1 known missense c.781 p.P261S 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 283 0 0.00 207 52 20.08 - - -