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 ADCY8 0 genome.wustl.edu 37 8 131826440 131826440 + Silent SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 131826440 131826440 G T SNP ADCY8 ENST00000286355 human ensembl 69_37n -1 known silent c.2788 p.R930 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 127 0 0.00 256 57 18.21 - - - AFF2 0 genome.wustl.edu 37 X 148037136 148037136 + Nonsense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 148037136 148037136 G T SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known nonsense c.1561 p.E521* 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 58 0 0.00 26 18 40.91 - - - AFF3 0 genome.wustl.edu 37 2 100210682 100210682 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 100210682 100210682 G T SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known missense c.1516 p.P506T 0.317 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 44 0 0.00 14 15 51.72 - - - ALS2CR8 0 genome.wustl.edu 37 2 203826061 203826061 + Silent SNP T T A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 203826061 203826061 T A SNP ALS2CR8 ENST00000320443 human ensembl 69_37n +1 known silent c.744 p.R248 1.000 NULL NULL - no_errors ALS2CR8 HGNC ENSG00000138380 184 0 0.00 114 45 28.30 - - - AMBRA1 0 genome.wustl.edu 37 11 46419206 46419206 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 11 46419206 46419206 C G SNP AMBRA1 ENST00000458649 human ensembl 69_37n -1 known missense c.3691 p.A1231P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 105 0 0.00 52 27 34.18 - - - ANK2 0 genome.wustl.edu 37 4 114276056 114276056 + Missense_Mutation SNP A A T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 114276056 114276056 A T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.6282 p.E2094D 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 102 0 0.00 111 43 27.92 - - - ANKRD42 0 genome.wustl.edu 37 11 82959055 82959055 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 11 82959055 82959055 G C SNP ANKRD42 ENST00000533342 human ensembl 69_37n +1 putative missense c.1393 p.D465H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD42 HGNC ENSG00000137494 339 0 0.00 169 112 39.86 - - - ARHGAP17 0 genome.wustl.edu 37 16 24950727 24950727 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 16 24950727 24950727 G A SNP ARHGAP17 ENST00000289968 human ensembl 69_37n -1 known missense c.1682 p.S561F 0.993 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 103 1 0.96 41 35 46.05 - - - ARHGAP29 0 genome.wustl.edu 37 1 94654845 94654845 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 94654845 94654845 C G SNP ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known missense c.1503 p.E501D 0.957 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 282 1 0.35 82 103 55.68 - - - ARHGAP35 0 genome.wustl.edu 37 19 47492817 47492817 + Silent SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 19 47492817 47492817 G T SNP ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known silent c.3921 p.L1307 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 72 0 0.00 51 13 20.00 - - - ASIC1 0 genome.wustl.edu 37 12 50472232 50472232 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 12 50472232 50472232 C T SNP ASIC1 ENST00000228468 human ensembl 69_37n +1 known missense c.866 p.T289I 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC1 HGNC ENSG00000110881 224 1 0.44 122 77 38.69 - - - ASPA 0 genome.wustl.edu 37 17 3386852 3386852 + Nonsense_Mutation SNP T T A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 17 3386852 3386852 T A SNP ASPA ENST00000263080 human ensembl 69_37n +1 known nonsense c.492 p.Y164* 0.994 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 212 0 0.00 16 103 86.55 - - - ASTN1 0 genome.wustl.edu 37 1 177001903 177001903 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 177001903 177001903 C T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.554 p.R185Q 1.000 NULL superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 35 0 0.00 27 22 44.90 - - - ATG3 0 genome.wustl.edu 37 3 112256689 112256689 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 112256689 112256689 C G SNP ATG3 ENST00000283290 human ensembl 69_37n -1 known missense c.559 p.D187H 1.000 NULL pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C - no_errors ATG3 HGNC ENSG00000144848 341 0 0.00 209 97 31.70 - - - ATXN10 0 genome.wustl.edu 37 22 46202962 46202962 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 22 46202962 46202962 G C SNP ATXN10 ENST00000451241 human ensembl 69_37n +1 putative missense c.395 p.S132T 0.000 NULL pfam_Ataxin-10_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATXN10 HGNC ENSG00000130638 75 0 0.00 27 64 70.33 - - - BCL2L12 0 genome.wustl.edu 37 19 50169138 50169138 + Nonsense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 19 50169138 50169138 G T SNP BCL2L12 ENST00000246785 human ensembl 69_37n +1 known nonsense c.58 p.E20* 0.013 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 26 0 0.00 25 6 19.35 - - - BEST3 0 genome.wustl.edu 37 12 70049341 70049341 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 12 70049341 70049341 C A SNP BEST3 ENST00000330891 human ensembl 69_37n -1 known missense c.1353 p.K451N 0.568 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 301 0 0.00 10 102 90.27 - - - C11orf30 0 genome.wustl.edu 37 11 76207278 76207278 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 11 76207278 76207278 C G SNP C11orf30 ENST00000334736 human ensembl 69_37n +1 known missense c.1128 p.I376M 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 126 0 0.00 49 52 51.49 - - - C12orf40 0 genome.wustl.edu 37 12 40114937 40114937 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 12 40114937 40114937 G A SNP C12orf40 ENST00000324616 human ensembl 69_37n +1 known missense c.1843 p.D615N 0.084 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 119 0 0.00 46 36 43.90 - - - C14orf105 0 genome.wustl.edu 37 14 57960233 57960233 + Silent SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 14 57960233 57960233 G A SNP C14orf105 ENST00000216445 human ensembl 69_37n -1 known silent c.201 p.N67 0.155 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 147 0 0.00 55 49 47.12 - - - C16orf54 0 genome.wustl.edu 37 16 29756060 29756060 + Silent SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 16 29756060 29756060 G A SNP C16orf54 ENST00000329410 human ensembl 69_37n -1 known silent c.213 p.T71 0.977 NULL NULL - no_errors C16orf54 HGNC ENSG00000185905 50 0 0.00 28 20 41.67 - - - C16orf62 0 genome.wustl.edu 37 16 19580756 19580756 + Nonsense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 16 19580756 19580756 C G SNP C16orf62 ENST00000438132 human ensembl 69_37n +1 known nonsense c.395 p.S132* 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 36 0 0.00 26 13 33.33 - - - C1orf74 0 genome.wustl.edu 37 1 209956185 209956185 + Silent SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 209956185 209956185 C G SNP C1orf74 ENST00000294811 human ensembl 69_37n -1 known silent c.795 p.P265 0.000 NULL NULL - no_errors C1orf74 HGNC ENSG00000162757 156 0 0.00 82 49 37.40 - - - C8orf31 0 genome.wustl.edu 37 8 144126093 144126093 + Nonsense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 144126093 144126093 G T SNP C8orf31 ENST00000395172 human ensembl 69_37n +1 known nonsense c.214 p.G72* 0.343 NULL NULL - no_errors C8orf31 HGNC ENSG00000177335 106 0 0.00 141 44 23.66 - - - CCAR1 0 genome.wustl.edu 37 10 70507310 70507310 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 10 70507310 70507310 G T SNP CCAR1 ENST00000265872 human ensembl 69_37n +1 known missense c.813 p.Q271H 0.982 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 108 0 0.00 39 34 46.58 - - - CCBL1 0 genome.wustl.edu 37 9 131600646 131600649 + Frame_Shift_Del DEL CCTG CCTG - TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 CCTG CCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 9 131600646 131600649 CCTG - DEL CCBL1 ENST00000436267 human ensembl 69_37n -1 known frame_shift_del c.484 p.G162fs 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors CCBL1 HGNC ENSG00000171097 36 0 0.00 18 3 14.29 - - - CCNF 0 genome.wustl.edu 37 16 2495537 2495537 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 16 2495537 2495537 G T SNP CCNF ENST00000397066 human ensembl 69_37n +1 known missense c.1008 p.E336D 0.982 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 57 0 0.00 26 11 29.73 - - - CD109 0 genome.wustl.edu 37 6 74446225 74446225 + Missense_Mutation SNP A A T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 74446225 74446225 A T SNP CD109 ENST00000287097 human ensembl 69_37n +1 known missense c.627 p.Q209H 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 132 0 0.00 7 48 87.27 - - - CDH22 0 genome.wustl.edu 37 20 44839113 44839113 + Silent SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 20 44839113 44839113 G T SNP CDH22 ENST00000372262 human ensembl 69_37n -1 known silent c.1119 p.G373 0.935 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 43 0 0.00 41 29 41.43 - - - CER1 0 genome.wustl.edu 37 9 14722336 14722336 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 9 14722336 14722336 A G SNP CER1 ENST00000380911 human ensembl 69_37n -1 known missense c.335 p.L112P 0.000 pirsf_Cerberus pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C - no_errors CER1 HGNC ENSG00000147869 219 0 0.00 90 59 39.60 - - - CKAP5 0 genome.wustl.edu 37 11 46766095 46766095 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 11 46766095 46766095 G C SNP CKAP5 ENST00000415402 human ensembl 69_37n -1 known missense c.5758 p.P1920A 0.992 NULL pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 142 0 0.00 57 41 41.84 - - - CLCN4 0 genome.wustl.edu 37 X 10176333 10176333 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 10176333 10176333 G C SNP CLCN4 ENST00000380833 human ensembl 69_37n +1 known missense c.1092 p.R364S 0.985 pfam_Cl-channel_volt-gated,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-4 - no_errors CLCN4 HGNC ENSG00000073464 114 0 0.00 56 18 24.32 - - - COL5A2 0 genome.wustl.edu 37 2 189904261 189904261 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 189904261 189904261 C A SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known missense c.3662 p.G1221V 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 40 0 0.00 26 10 27.78 - - - COLQ 0 genome.wustl.edu 37 3 15495408 15495408 + Missense_Mutation SNP T T G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 15495408 15495408 T G SNP COLQ ENST00000383788 human ensembl 69_37n -1 known missense c.1226 p.H409P 1.000 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 307 0 0.00 155 52 24.88 - - - CORIN 0 genome.wustl.edu 37 4 47647207 47647207 + Missense_Mutation SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 47647207 47647207 A C SNP CORIN ENST00000273857 human ensembl 69_37n -1 known missense c.1848 p.C616W 0.975 pirsf_Peptidase_S1A_corin,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 228 0 0.00 198 78 28.16 - - - CORO2A 0 genome.wustl.edu 37 9 100895427 100895427 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 9 100895427 100895427 C G SNP CORO2A ENST00000343933 human ensembl 69_37n -1 known missense c.541 p.D181H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 106 0 0.00 49 27 35.53 - - - CSMD1 0 genome.wustl.edu 37 8 3265726 3265726 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 3265726 3265726 G A SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.1769 p.T590M 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 51 0 0.00 22 22 50.00 - - - CUL3 0 genome.wustl.edu 37 2 225346622 225346622 + Silent SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 225346622 225346622 G C SNP CUL3 ENST00000264414 human ensembl 69_37n -1 known silent c.2016 p.V672 1.000 superfamily_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 105 0 0.00 56 52 48.15 - - - CXorf22 0 genome.wustl.edu 37 X 35974211 35974211 + Frame_Shift_Del DEL A A - TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 35974211 35974211 A - DEL CXorf22 ENST00000297866 human ensembl 69_37n +1 known frame_shift_del c.1308 p.N438fs 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 130 0 0.00 78 45 36.00 - - - CYTH3 0 genome.wustl.edu 37 7 6210838 6210838 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 6210838 6210838 G T SNP CYTH3 ENST00000350796 human ensembl 69_37n -1 known missense c.557 p.S186Y 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC ENSG00000008256 90 0 0.00 55 23 29.49 - - - DCX 0 genome.wustl.edu 37 X 110644539 110644539 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 110644539 110644539 G A SNP DCX ENST00000358070 human ensembl 69_37n -1 novel missense c.602 p.P201L 0.998 pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DCX HGNC ENSG00000077279 114 0 0.00 49 26 34.67 - - - DEFB113 0 genome.wustl.edu 37 6 49936517 49936517 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 49936517 49936517 G A SNP DEFB113 ENST00000398718 human ensembl 69_37n -1 known missense c.122 p.A41V 0.000 NULL NULL - no_errors DEFB113 HGNC ENSG00000214642 135 0 0.00 158 64 28.83 - - - DFNA5 0 genome.wustl.edu 37 7 24738784 24738784 + Nonsense_Mutation SNP A A T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 24738784 24738784 A T SNP DFNA5 ENST00000342947 human ensembl 69_37n -1 known nonsense c.1352 p.L451* 0.977 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 76 0 0.00 70 26 27.08 - - - DGCR2 0 genome.wustl.edu 37 22 19052399 19052399 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 22 19052399 19052399 G C SNP DGCR2 ENST00000263196 human ensembl 69_37n -1 known missense c.510 p.D170E 0.998 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 28 0 0.00 12 5 29.41 - - - DGKZ 0 genome.wustl.edu 37 11 46400752 46400753 + Frame_Shift_Ins INS - - CC TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 11 46400752 46400753 - CC INS DGKZ ENST00000454345 human ensembl 69_37n +1 known frame_shift_ins c.3105_3104 p.E1038fs 0.999:0.958 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 13 0 0.00 5 3 37.50 - - - DIP2C 0 genome.wustl.edu 37 10 461709 461711 + In_Frame_Del DEL CTT CTT - TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 10 461709 461711 CTT - DEL DIP2C ENST00000280886 human ensembl 69_37n -1 known in_frame_del c.859_857 p.E286in_frame_del 1.000:1.000:1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 155 0 0.00 74 11 12.94 - - - DISP1 0 genome.wustl.edu 37 1 223178036 223178036 + Silent SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 223178036 223178036 C G SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known silent c.3297 p.P1099 0.993 pfam_Patched,pfam_MMPL-typ pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 48 0 0.00 44 25 36.23 - - - DNAH7 0 genome.wustl.edu 37 2 196709889 196709889 + Missense_Mutation SNP T T A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 196709889 196709889 T A SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.8782 p.N2928Y 0.581 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 157 0 0.00 147 27 15.52 - - - DNTT 0 genome.wustl.edu 37 10 98064440 98064440 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 10 98064440 98064440 G T SNP DNTT ENST00000371174 human ensembl 69_37n +1 known missense c.186 p.R62S 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 134 1 0.74 58 39 40.21 - - - EBP 0 genome.wustl.edu 37 X 48382367 48382367 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 48382367 48382367 G T SNP EBP ENST00000495186 human ensembl 69_37n +1 known missense c.208 p.A70S 1.000 pfam_EBP pfam_EBP - no_errors EBP HGNC ENSG00000147155 423 1 0.24 200 145 41.79 - - - ENOSF1 0 genome.wustl.edu 37 18 694282 694282 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 18 694282 694282 G A SNP ENOSF1 ENST00000340116 human ensembl 69_37n -1 known missense c.425 p.A142V 1.000 pfam_Mandelate_racemase_N pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 43 0 0.00 27 14 34.15 - - - EPHA5 0 genome.wustl.edu 37 4 66468004 66468004 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 66468004 66468004 C T SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known missense c.265 p.V89M 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 119 0 0.00 50 42 45.65 - - - FAAH2 0 genome.wustl.edu 37 X 57337119 57337119 + Silent SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 57337119 57337119 C T SNP FAAH2 ENST00000374900 human ensembl 69_37n +1 known silent c.369 p.F123 1.000 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 213 0 0.00 86 79 47.88 - - - FAM102B 0 genome.wustl.edu 37 1 109171386 109171386 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 109171386 109171386 A G SNP FAM102B ENST00000370035 human ensembl 69_37n +1 known missense c.930 p.I310M 1.000 NULL pfam_NT-C2 - no_errors FAM102B HGNC ENSG00000162636 80 0 0.00 51 32 38.55 - - - FAM116A 0 genome.wustl.edu 37 3 57619004 57619004 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 57619004 57619004 G C SNP FAM116A ENST00000311128 human ensembl 69_37n -1 known missense c.1341 p.F447L 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom - no_errors FAM116A HGNC ENSG00000174839 86 0 0.00 1 27 96.43 - - - FAM49A 0 genome.wustl.edu 37 2 16742265 16742265 + Nonsense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 16742265 16742265 C A SNP FAM49A ENST00000355549 human ensembl 69_37n -1 known nonsense c.703 p.E235* 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 191 0 0.00 14 82 85.42 - - - FAR2 0 genome.wustl.edu 37 12 29464069 29464069 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 12 29464069 29464069 G T SNP FAR2 ENST00000182377 human ensembl 69_37n +1 known missense c.877 p.A293S 1.000 NULL pfam_Male_sterile_NAD-bd,pfam_Malesterile,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 147 0 0.00 10 53 84.13 - - - FBXL18 0 genome.wustl.edu 37 7 5540818 5540818 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 5540818 5540818 G A SNP FBXL18 ENST00000453700 human ensembl 69_37n -1 known missense c.1082 p.S361L 0.167 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL18 HGNC ENSG00000155034 38 0 0.00 12 7 36.84 - - - FCRL5 0 genome.wustl.edu 37 1 157514745 157514745 + Silent SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 157514745 157514745 A C SNP FCRL5 ENST00000356953 human ensembl 69_37n -1 known silent c.435 p.L145 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 91 0 0.00 89 33 27.05 - - - FGFR2 0 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 10 123258034 123258034 A C SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.1650 p.N550K 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt,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 pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 114 0 0.00 48 90 64.75 - - - FGFR3 0 genome.wustl.edu 37 4 1806180 1806181 + Frame_Shift_Ins INS - - C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 1806180 1806181 - C INS FGFR3 ENST00000340107 human ensembl 69_37n +1 known frame_shift_ins c.1205_1206 p.K405fs 0.996:0.987 pirsf_Tyr_kinase_fibroblast_GF_rcpt pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FGFR3 HGNC ENSG00000068078 35 0 0.00 23 3 11.54 - - - FKBP10 0 genome.wustl.edu 37 17 39969300 39969301 + Frame_Shift_Ins INS - - C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 17 39969300 39969301 - C INS FKBP10 ENST00000321562 human ensembl 69_37n +1 known frame_shift_ins c.14_15 p.S8fs 0.001:0.000 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 11 0 0.00 4 2 33.33 - - - FOCAD 0 genome.wustl.edu 37 9 20789501 20789501 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 9 20789501 20789501 C T SNP FOCAD ENST00000338382 human ensembl 69_37n +1 known missense c.1349 p.A450V 0.005 NULL pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 196 0 0.00 72 65 47.45 - - - FOCAD 0 genome.wustl.edu 37 9 20990248 20990248 + Frame_Shift_Del DEL C C - TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 9 20990248 20990248 C - DEL FOCAD ENST00000338382 human ensembl 69_37n +1 known frame_shift_del c.5131 p.P1711fs 0.001 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 40 0 0.00 26 6 18.75 - - - FRMD3 0 genome.wustl.edu 37 9 85950510 85950510 + Missense_Mutation SNP T T C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 9 85950510 85950510 T C SNP FRMD3 ENST00000304195 human ensembl 69_37n -1 known missense c.517 p.I173V 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC ENSG00000172159 221 0 0.00 94 93 49.73 - - - FRMPD4 0 genome.wustl.edu 37 X 12736124 12736124 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 12736124 12736124 A G SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.3179 p.E1060G 0.003 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 143 0 0.00 59 47 44.34 - - - G2E3 0 genome.wustl.edu 37 14 31077124 31077124 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 14 31077124 31077124 G T SNP G2E3 ENST00000206595 human ensembl 69_37n +1 known missense c.1349 p.G450V 1.000 pfam_HECT,superfamily_HECT,smart_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 137 0 0.00 83 57 40.71 - - - GGN 0 genome.wustl.edu 37 19 38877092 38877093 + Frame_Shift_Ins INS - - C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 19 38877092 38877093 - C INS GGN ENST00000334928 human ensembl 69_37n -1 known frame_shift_ins c.810_809 p.G271fs 0.648:0.644 NULL NULL - no_errors GGN HGNC ENSG00000179168 13 0 0.00 13 3 18.75 - - - GNAT3 0 genome.wustl.edu 37 7 80108225 80108225 + Nonsense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 80108225 80108225 C T SNP GNAT3 ENST00000398291 human ensembl 69_37n -1 known nonsense c.393 p.W131* 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT3 HGNC ENSG00000214415 241 0 0.00 141 56 28.43 - - - GPC5 0 genome.wustl.edu 37 13 92345621 92345621 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 13 92345621 92345621 G A SNP GPC5 ENST00000377067 human ensembl 69_37n +1 known missense c.506 p.S169N 0.991 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 134 0 0.00 55 36 39.56 - - - GPR132 0 genome.wustl.edu 37 14 105517621 105517621 + Missense_Mutation SNP T T C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 14 105517621 105517621 T C SNP GPR132 ENST00000329797 human ensembl 69_37n -1 known missense c.853 p.R285G 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_G2A_lysphc_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR132 HGNC ENSG00000183484 69 0 0.00 42 19 30.65 - - - GPR179 0 genome.wustl.edu 37 17 36489841 36489841 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 17 36489841 36489841 G A SNP GPR179 ENST00000342292 human ensembl 69_37n -1 known missense c.1865 p.T622M 0.999 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 167 0 0.00 9 77 89.53 - - - HELQ 0 genome.wustl.edu 37 4 84350883 84350883 + Missense_Mutation SNP T T G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 84350883 84350883 T G SNP HELQ ENST00000295488 human ensembl 69_37n -1 known missense c.2312 p.D771A 0.186 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 53 0 0.00 38 28 42.42 - - - HERC2P4 0 genome.wustl.edu 37 16 32190861 32190861 + RNA SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 16 32190861 32190861 G T SNP HERC2P4 ENST00000566591 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 35 0 0.00 65 9 12.16 - - - HLA-B 0 genome.wustl.edu 37 6 31322985 31322985 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 31322985 31322985 G C SNP HLA-B ENST00000412585 human ensembl 69_37n -1 known missense c.911 p.S304C 0.002 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 21 0 0.00 30 9 23.08 - - - HSPA14 0 genome.wustl.edu 37 10 14913531 14913531 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 10 14913531 14913531 G A SNP HSPA14 ENST00000378372 human ensembl 69_37n +1 known missense c.1456 p.G486R 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 92 0 0.00 43 25 36.76 - - - ID2 0 genome.wustl.edu 37 2 8822605 8822605 + Frame_Shift_Del DEL A A - TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 8822605 8822605 A - DEL ID2 ENST00000234091 human ensembl 69_37n +1 known frame_shift_del c.310 p.T104fs 1.000 superfamily_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors ID2 HGNC ENSG00000115738 34 0 0.00 9 10 52.63 - - - INTS7 0 genome.wustl.edu 37 1 212126020 212126020 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 212126020 212126020 C T SNP INTS7 ENST00000366994 human ensembl 69_37n -1 known missense c.2207 p.G736E 0.997 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 74 0 0.00 86 59 40.41 - - - ITGA10 0 genome.wustl.edu 37 1 145535834 145535834 + Silent SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 145535834 145535834 C G SNP ITGA10 ENST00000369304 human ensembl 69_37n +1 known silent c.2022 p.V674 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 133 0 0.00 68 25 26.88 - - - KCND2 0 genome.wustl.edu 37 7 120387849 120387849 + Silent SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 120387849 120387849 A G SNP KCND2 ENST00000331113 human ensembl 69_37n +1 known silent c.1830 p.G610 1.000 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 115 0 0.00 60 34 36.17 - - - KDM5A 0 genome.wustl.edu 37 12 427354 427354 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 12 427354 427354 C G SNP KDM5A ENST00000399788 human ensembl 69_37n -1 known missense c.2815 p.E939Q 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 125 0 0.00 12 29 69.05 - - - KIAA0232 0 genome.wustl.edu 37 4 6865760 6865760 + Silent SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 6865760 6865760 A G SNP KIAA0232 ENST00000307659 human ensembl 69_37n +1 known silent c.3651 p.E1217 0.003 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 118 0 0.00 38 37 49.33 - - - KIAA1210 0 genome.wustl.edu 37 X 118220634 118220634 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 118220634 118220634 C A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.4559 p.S1520I 0.006 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 188 0 0.00 73 43 37.07 - - - KIF5C 0 genome.wustl.edu 37 2 149868090 149868090 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 149868090 149868090 C A SNP KIF5C ENST00000435030 human ensembl 69_37n +1 known missense c.2774 p.P925H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 80 0 0.00 60 30 33.33 - - - LGSN 0 genome.wustl.edu 37 6 63990398 63990398 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 63990398 63990398 G A SNP LGSN ENST00000370657 human ensembl 69_37n -1 known missense c.1058 p.A353V 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 51 0 0.00 30 18 37.50 - - - LIG3 0 genome.wustl.edu 37 17 33318105 33318105 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 17 33318105 33318105 C G SNP LIG3 ENST00000378526 human ensembl 69_37n +1 known missense c.1013 p.P338R 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 37 0 0.00 5 11 68.75 - - - LMOD1 0 genome.wustl.edu 37 1 201869213 201869213 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 201869213 201869213 C G SNP LMOD1 ENST00000367288 human ensembl 69_37n -1 known missense c.928 p.E310Q 0.998 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 173 1 0.57 252 92 26.74 - - - LPAR1 0 genome.wustl.edu 37 9 113637769 113637769 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 9 113637769 113637769 G A SNP LPAR1 ENST00000538760 human ensembl 69_37n -1 known missense c.1030 p.R344C 1.000 prints_LPA_rcpt_EDG2 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 435 0 0.00 182 164 47.40 - - - LSG1 0 genome.wustl.edu 37 3 194371715 194371715 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 194371715 194371715 A G SNP LSG1 ENST00000437613 human ensembl 69_37n -1 novel missense c.515 p.V172A 1.000 pfam_GTP_binding_domain,prints_GTP_binding_domain pfam_GTP_binding_domain,prints_GTP_binding_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LSG1 HGNC ENSG00000041802 163 0 0.00 137 42 23.46 - - - LSR 0 genome.wustl.edu 37 19 35758359 35758359 + Missense_Mutation SNP T T G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 19 35758359 35758359 T G SNP LSR ENST00000361790 human ensembl 69_37n +1 known missense c.1636 p.S546A 0.001 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like - no_errors LSR HGNC ENSG00000105699 27 0 0.00 8 8 50.00 - - - MAGI3 0 genome.wustl.edu 37 1 114225698 114225698 + Missense_Mutation SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 114225698 114225698 A C SNP MAGI3 ENST00000307546 human ensembl 69_37n +1 novel missense c.3508 p.K1170Q 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 74 0 0.00 42 45 51.72 - - - MATN1 0 genome.wustl.edu 37 1 31188155 31188155 + Silent SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 31188155 31188155 G A SNP MATN1 ENST00000373765 human ensembl 69_37n -1 known silent c.1209 p.G403 0.162 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 72 0 0.00 6 37 86.05 - - - MIR1289-2 0 genome.wustl.edu 37 5 132763340 132763340 + RNA SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 5 132763340 132763340 C T SNP MIR1289-2 ENST00000408360 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR1289-2 HGNC ENSG00000221287 274 0 0.00 16 118 88.06 - - - MMP11 0 genome.wustl.edu 37 22 24124660 24124660 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 22 24124660 24124660 G C SNP MMP11 ENST00000215743 human ensembl 69_37n +1 known missense c.1323 p.Q441H 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP11 HGNC ENSG00000099953 14 0 0.00 10 6 37.50 - - - MOB4 0 genome.wustl.edu 37 2 198405102 198405102 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 198405102 198405102 C G SNP MOB4 ENST00000323303 human ensembl 69_37n +1 known missense c.295 p.Q99E 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB4 HGNC ENSG00000115540 32 0 0.00 41 15 26.79 - - - MPP1 0 genome.wustl.edu 37 X 154009963 154009963 + Missense_Mutation SNP T T C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 154009963 154009963 T C SNP MPP1 ENST00000369534 human ensembl 69_37n -1 known missense c.1061 p.Y354C 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP1 HGNC ENSG00000130830 403 0 0.00 188 125 39.94 - - - MRPL13 0 genome.wustl.edu 37 8 121432115 121432115 + Missense_Mutation SNP T T C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 121432115 121432115 T C SNP MRPL13 ENST00000306185 human ensembl 69_37n -1 known missense c.370 p.R124G 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type - no_errors MRPL13 HGNC ENSG00000172172 100 0 0.00 146 35 19.23 - - - MRPL40 0 genome.wustl.edu 37 22 19423260 19423260 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 22 19423260 19423260 G C SNP MRPL40 ENST00000333130 human ensembl 69_37n +1 known missense c.396 p.E132D 0.768 pfam_Ribosomal_L28/L40_mit pfam_Ribosomal_L28/L40_mit - no_errors MRPL40 HGNC ENSG00000185608 93 0 0.00 46 57 55.34 - - - MUC17 0 genome.wustl.edu 37 7 100686047 100686047 + Missense_Mutation SNP T T A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 100686047 100686047 T A SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.11350 p.S3784T 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 40 0 0.00 18 42 70.00 - - - NAMPTL 0 genome.wustl.edu 37 10 36811783 36811784 + Frame_Shift_Ins INS - - T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 10 36811783 36811784 - T INS NAMPTL ENST00000543053 human ensembl 69_37n -1 known frame_shift_ins c.324_323 p.N108fs 0.997:0.998 superfamily_Quinolinate_PRibosylTrfase_C pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C - no_errors NAMPTL HGNC ENSG00000229644 191 0 0.00 85 56 39.72 - - - NAMPTL 0 genome.wustl.edu 37 10 36811790 36811790 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 10 36811790 36811790 C G SNP NAMPTL ENST00000543053 human ensembl 69_37n -1 known missense c.317 p.R106T 0.986 superfamily_Quinolinate_PRibosylTrfase_C pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C - no_errors NAMPTL HGNC ENSG00000229644 190 0 0.00 77 62 43.97 - - - NAT9 0 genome.wustl.edu 37 17 72768136 72768136 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 17 72768136 72768136 G A SNP NAT9 ENST00000357814 human ensembl 69_37n -1 known missense c.452 p.P151L 0.981 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 93 0 0.00 69 34 33.01 - - - NAV2 0 genome.wustl.edu 37 11 20122549 20122549 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 11 20122549 20122549 G C SNP NAV2 ENST00000396087 human ensembl 69_37n +1 known missense c.6425 p.R2142P 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 133 0 0.00 65 54 45.38 - - - NCKAP1L 0 genome.wustl.edu 37 12 54891635 54891635 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 12 54891635 54891635 G A SNP NCKAP1L ENST00000293373 human ensembl 69_37n +1 known missense c.62 p.R21H 0.997 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 100 0 0.00 66 9 11.84 - - - NDC80 0 genome.wustl.edu 37 18 2585112 2585112 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 18 2585112 2585112 A G SNP NDC80 ENST00000261597 human ensembl 69_37n +1 known missense c.580 p.I194V 0.982 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 74 0 0.00 58 8 12.12 - - - NEK5 0 genome.wustl.edu 37 13 52693482 52693482 + Missense_Mutation SNP T T C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 13 52693482 52693482 T C SNP NEK5 ENST00000355568 human ensembl 69_37n -1 known missense c.187 p.I63V 1.000 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 NEK5 HGNC ENSG00000197168 126 0 0.00 62 63 50.00 - - - NOD1 0 genome.wustl.edu 37 7 30469058 30469058 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 30469058 30469058 C A SNP NOD1 ENST00000222823 human ensembl 69_37n -1 known missense c.2721 p.Q907H 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 70 0 0.00 23 32 58.18 - - - NPIPL2 0 genome.wustl.edu 37 16 74425915 74425915 + Silent SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 16 74425915 74425915 G A SNP NPIPL2 ENST00000429990 human ensembl 69_37n +1 known silent c.1269 p.P423 0.994 NULL pfam_NPIP - no_errors NPIPL2 HGNC ENSG00000196436 94 0 0.00 56 13 18.84 - - - NR2F6 0 genome.wustl.edu 37 19 17355841 17355841 + Silent SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 19 17355841 17355841 C G SNP NR2F6 ENST00000291442 human ensembl 69_37n -1 known silent c.189 p.S63 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2F6 HGNC ENSG00000160113 29 0 0.00 8 4 33.33 - - - OGG1 0 genome.wustl.edu 37 3 9798825 9798825 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 9798825 9798825 G A SNP OGG1 ENST00000302003 human ensembl 69_37n +1 known missense c.1046 p.R349Q 0.000 NULL pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 160 0 0.00 13 189 93.56 - - - ONECUT1 0 genome.wustl.edu 37 15 53081468 53081469 + Frame_Shift_Ins INS - - C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 15 53081468 53081469 - C INS ONECUT1 ENST00000305901 human ensembl 69_37n -1 known frame_shift_ins c.614_613 p.A205fs 1.000:0.998 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 64 0 0.00 17 3 15.00 - - - OR10S1 0 genome.wustl.edu 37 11 123848324 123848324 + Silent SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 11 123848324 123848324 G A SNP OR10S1 ENST00000531945 human ensembl 69_37n -1 known silent c.75 p.F25 0.936 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 61 0 0.00 47 22 31.88 - - - OR11L1 0 genome.wustl.edu 37 1 248005072 248005072 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 248005072 248005072 C A SNP OR11L1 ENST00000355784 human ensembl 69_37n -1 known missense c.127 p.V43F 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11L1 HGNC ENSG00000197591 113 0 0.00 132 45 25.42 - - - OR6K2 0 genome.wustl.edu 37 1 158669708 158669708 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 158669708 158669708 G T SNP OR6K2 ENST00000359610 human ensembl 69_37n -1 known missense c.735 p.H245Q 0.998 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6K2 HGNC ENSG00000196171 339 0 0.00 271 142 34.30 - - - OSBPL3 0 genome.wustl.edu 37 7 24911625 24911625 + Nonsense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 24911625 24911625 G A SNP OSBPL3 ENST00000313367 human ensembl 69_37n -1 known nonsense c.160 p.Q54* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 179 0 0.00 86 150 63.56 - - - PACSIN1 0 genome.wustl.edu 37 6 34499505 34499505 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 34499505 34499505 G A SNP PACSIN1 ENST00000244458 human ensembl 69_37n +1 known missense c.1166 p.R389H 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN1 HGNC ENSG00000124507 76 0 0.00 17 43 71.67 - - - PCDH11X 0 genome.wustl.edu 37 X 91133182 91133182 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 91133182 91133182 G T SNP PCDH11X ENST00000373094 human ensembl 69_37n +1 known missense c.1943 p.G648V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 63 0 0.00 32 32 50.00 - - - PCDH19 0 genome.wustl.edu 37 X 99662857 99662857 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 99662857 99662857 C G SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.739 p.V247L 0.995 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 72 0 0.00 43 31 41.89 - - - PCDHA1 0 genome.wustl.edu 37 5 140168170 140168170 + Silent SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 5 140168170 140168170 C G SNP PCDHA1 ENST00000504120 human ensembl 69_37n +1 known silent c.2295 p.P765 0.659 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 69 0 0.00 9 41 82.00 - - - PCDHB5 0 genome.wustl.edu 37 5 140516039 140516039 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 5 140516039 140516039 C A SNP PCDHB5 ENST00000231134 human ensembl 69_37n +1 known missense c.1023 p.D341E 1.000 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 PCDHB5 HGNC ENSG00000113209 136 0 0.00 6 59 90.77 - - - PENK 0 genome.wustl.edu 37 8 57358417 57358417 + Silent SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 57358417 57358417 C T SNP PENK ENST00000314922 human ensembl 69_37n -1 known silent c.96 p.T32 0.007 pfam_Opioid_neupept,prints_Opioid_neupept pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 29 0 0.00 11 4 26.67 - - - PI4KAP1 0 genome.wustl.edu 37 22 20388567 20388567 + RNA SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 22 20388567 20388567 G T SNP PI4KAP1 ENST00000416922 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP1 HGNC ENSG00000215513 15 0 0.00 3 4 57.14 - - - PI4KAP2 0 genome.wustl.edu 37 22 21832346 21832346 + RNA SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 22 21832346 21832346 G T SNP PI4KAP2 ENST00000450651 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP2 HGNC ENSG00000183506 15 0 0.00 1 2 66.67 - - - PIAS3 0 genome.wustl.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 145585532 145585533 - G INS PIAS3 ENST00000393045 human ensembl 69_37n +1 known frame_shift_ins c.1797_1798 p.A601fs 1.000:1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS3 HGNC ENSG00000131788 65 0 0.00 33 4 10.81 - - - PJA1 0 genome.wustl.edu 37 X 68381469 68381469 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 68381469 68381469 A G SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known missense c.1613 p.M538T 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 48 0 0.00 46 17 26.98 - - - PLA2G7 0 genome.wustl.edu 37 6 46684756 46684756 + Missense_Mutation SNP A A T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 46684756 46684756 A T SNP PLA2G7 ENST00000274793 human ensembl 69_37n -1 known missense c.187 p.Y63N 0.979 pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF - no_errors PLA2G7 HGNC ENSG00000146070 227 0 0.00 238 98 28.91 - - - PLP2 0 genome.wustl.edu 37 X 49028371 49028371 + Silent SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 49028371 49028371 G A SNP PLP2 ENST00000376327 human ensembl 69_37n +1 known silent c.24 p.S8 0.001 NULL pfam_MARVEL-like_dom - no_errors PLP2 HGNC ENSG00000102007 88 0 0.00 20 29 58.00 - - - PLXNA1 0 genome.wustl.edu 37 3 126707789 126707789 + Missense_Mutation SNP T T A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 126707789 126707789 T A SNP PLXNA1 ENST00000393409 human ensembl 69_37n +1 known missense c.353 p.L118Q 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 15 0 0.00 1 10 90.91 - - - PLXNA4 0 genome.wustl.edu 37 7 131883300 131883300 + Silent SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 7 131883300 131883300 G C SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known silent c.2682 p.V894 0.998 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 146 0 0.00 96 38 28.36 - - - PNPLA1 0 genome.wustl.edu 37 6 36275467 36275467 + Frame_Shift_Del DEL A A - TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 36275467 36275467 A - DEL PNPLA1 ENST00000457797 human ensembl 69_37n +1 known frame_shift_del c.1576 p.K527fs 0.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 123 0 0.00 101 43 29.45 - - - PNPLA1 0 genome.wustl.edu 37 6 36275473 36275473 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 36275473 36275473 C G SNP PNPLA1 ENST00000457797 human ensembl 69_37n +1 known missense c.1582 p.P528A 0.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 124 0 0.00 96 45 31.91 - - - PROM1 0 genome.wustl.edu 37 4 15991372 15991372 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 15991372 15991372 G C SNP PROM1 ENST00000447510 human ensembl 69_37n -1 known missense c.2059 p.P687A 0.474 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 222 0 0.00 107 107 50.00 - - - PROX1 0 genome.wustl.edu 37 1 214171443 214171443 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 214171443 214171443 C T SNP PROX1 ENST00000261454 human ensembl 69_37n +1 known missense c.1565 p.T522M 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 168 1 0.59 141 54 27.69 - - - PXDNL 0 genome.wustl.edu 37 8 52366148 52366148 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 52366148 52366148 C A SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known missense c.1180 p.G394C 0.190 pfam_Ig_I-set,pfam_Immunoglobulin,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 102 0 0.00 51 45 46.88 - - - RANBP3L 0 genome.wustl.edu 37 5 36262047 36262047 + Nonsense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 5 36262047 36262047 G C SNP RANBP3L ENST00000296604 human ensembl 69_37n -1 known nonsense c.578 p.S193* 0.387 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC ENSG00000164188 135 0 0.00 75 48 39.02 - - - RBL1 0 genome.wustl.edu 37 20 35696493 35696493 + Silent SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 20 35696493 35696493 A G SNP RBL1 ENST00000373664 human ensembl 69_37n -1 known silent c.387 p.F129 1.000 pfam_DUF3452_retinoblatoma-assoc pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 63 0 0.00 6 58 90.62 - - - RBM26 0 genome.wustl.edu 37 13 79928636 79928636 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 13 79928636 79928636 G C SNP RBM26 ENST00000327303 human ensembl 69_37n -1 known missense c.1924 p.P642A 1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 248 0 0.00 73 53 42.06 - - - RGL2 0 genome.wustl.edu 37 6 33263964 33263965 + Frame_Shift_Ins INS - - C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 33263964 33263965 - C INS RGL2 ENST00000497454 human ensembl 69_37n -1 known frame_shift_ins c.609_608 p.S204fs 1.000:1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 40 0 0.00 33 4 10.81 - - - RGS11 0 genome.wustl.edu 37 16 324238 324238 + Missense_Mutation SNP T T G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 16 324238 324238 T G SNP RGS11 ENST00000168869 human ensembl 69_37n -1 known missense c.176 p.E59A 0.994 NULL pfam_DEP_dom,pfscan_DEP_dom - no_errors RGS11 HGNC ENSG00000076344 22 0 0.00 7 4 36.36 - - - RIMBP2 0 genome.wustl.edu 37 12 130884319 130884319 + Missense_Mutation SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 12 130884319 130884319 A C SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known missense c.3037 p.F1013V 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 149 0 0.00 53 12 18.46 - - - RIMS1 0 genome.wustl.edu 37 6 72596812 72596812 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 72596812 72596812 C G SNP RIMS1 ENST00000521978 human ensembl 69_37n +1 known missense c.86 p.T29S 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 63 0 0.00 37 5 11.90 - - - ROCK2 0 genome.wustl.edu 37 2 11334430 11334430 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 11334430 11334430 C T SNP ROCK2 ENST00000315872 human ensembl 69_37n -1 known missense c.3560 p.S1187N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC ENSG00000134318 128 0 0.00 21 59 73.75 - - - RRN3 0 genome.wustl.edu 37 16 15173953 15173953 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 16 15173953 15173953 C G SNP RRN3 ENST00000198767 human ensembl 69_37n -1 known missense c.667 p.E223Q 1.000 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 45 0 0.00 43 9 17.31 - - - SCG3 0 genome.wustl.edu 37 15 51975544 51975544 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 15 51975544 51975544 A G SNP SCG3 ENST00000220478 human ensembl 69_37n +1 known missense c.310 p.N104D 0.695 NULL NULL - no_errors SCG3 HGNC ENSG00000104112 136 1 0.73 12 54 81.82 - - - SCN9A 0 genome.wustl.edu 37 2 167060936 167060936 + Silent SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 167060936 167060936 C T SNP SCN9A ENST00000303354 human ensembl 69_37n -1 known silent c.4440 p.K1480 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 209 0 0.00 188 91 32.62 - - - SEC31A 0 genome.wustl.edu 37 4 83802025 83802025 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 83802025 83802025 C G SNP SEC31A ENST00000432794 human ensembl 69_37n -1 known missense c.130 p.E44Q 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 145 0 0.00 67 50 42.74 - - - SEC63 0 genome.wustl.edu 37 6 108246121 108246121 + Silent SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 108246121 108246121 A C SNP SEC63 ENST00000369002 human ensembl 69_37n -1 known silent c.240 p.L80 1.000 NULL pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors SEC63 HGNC ENSG00000025796 133 0 0.00 64 49 43.36 - - - SEC63 0 genome.wustl.edu 37 6 108250658 108250658 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 108250658 108250658 C T SNP SEC63 ENST00000369002 human ensembl 69_37n -1 known missense c.185 p.R62Q 1.000 NULL pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors SEC63 HGNC ENSG00000025796 173 0 0.00 140 89 38.86 - - - SEPSECS 0 genome.wustl.edu 37 4 25160722 25160722 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 25160722 25160722 C A SNP SEPSECS ENST00000382103 human ensembl 69_37n -1 known missense c.122 p.C41F 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Sec-tRNA_Se_transferase pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Sec-tRNA_Se_transferase - no_errors SEPSECS HGNC ENSG00000109618 181 0 0.00 64 61 48.80 - - - SIN3A 0 genome.wustl.edu 37 15 75676645 75676645 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 15 75676645 75676645 C G SNP SIN3A ENST00000360439 human ensembl 69_37n -1 known missense c.3155 p.R1052P 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 47 0 0.00 4 11 73.33 - - - SIPA1L2 0 genome.wustl.edu 37 1 232561450 232561450 + Silent SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 1 232561450 232561450 C G SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known silent c.4515 p.R1505 0.040 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 176 1 0.56 166 70 29.66 - - - SLC16A13 0 genome.wustl.edu 37 17 6942180 6942181 + Frame_Shift_Ins INS - - G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 17 6942180 6942181 - G INS SLC16A13 ENST00000308027 human ensembl 69_37n +1 known frame_shift_ins c.1053_1054 p.L353fs 0.987:1.000 pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 32 0 0.00 17 2 10.53 - - - SLC22A2 0 genome.wustl.edu 37 6 160670398 160670398 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 160670398 160670398 C T SNP SLC22A2 ENST00000366953 human ensembl 69_37n -1 known missense c.692 p.R231Q 0.109 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 161 0 0.00 97 66 40.24 - - - SPATA18 0 genome.wustl.edu 37 4 52943137 52943137 + Silent SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 52943137 52943137 G A SNP SPATA18 ENST00000295213 human ensembl 69_37n +1 known silent c.951 p.A317 0.784 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 94 0 0.00 38 31 44.29 - - - SPP1 0 genome.wustl.edu 37 4 88902730 88902730 + Missense_Mutation SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 88902730 88902730 A C SNP SPP1 ENST00000395080 human ensembl 69_37n +1 known missense c.320 p.D107A 0.133 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 114 0 0.00 44 51 53.68 - - - SRP72 0 genome.wustl.edu 37 4 57333819 57333820 + Frame_Shift_Ins INS - - G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 57333819 57333820 - G INS SRP72 ENST00000342756 human ensembl 69_37n +1 known frame_shift_ins c.18_19 p.V8fs 0.414:0.920 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 25 0 0.00 26 3 10.34 - - - STARD8 0 genome.wustl.edu 37 X 67943519 67943520 + Frame_Shift_Ins INS - - C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 67943519 67943520 - C INS STARD8 ENST00000374599 human ensembl 69_37n +1 known frame_shift_ins c.2851_2852 p.A954fs 0.850:0.851 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 34 0 0.00 12 2 14.29 - - - STK4 0 genome.wustl.edu 37 20 43703761 43703761 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 20 43703761 43703761 C T SNP STK4 ENST00000372806 human ensembl 69_37n +1 known missense c.1408 p.R470W 1.000 pfam_SARAH_domain,pfscan_SARAH pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 92 0 0.00 90 42 31.82 - - - SYNPO2 0 genome.wustl.edu 37 4 119810233 119810233 + Silent SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 4 119810233 119810233 G T SNP SYNPO2 ENST00000307142 human ensembl 69_37n +1 known silent c.42 p.G14 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 227 0 0.00 6 173 96.11 - - - TBP 0 genome.wustl.edu 37 6 170878735 170878735 + Nonsense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 170878735 170878735 C A SNP TBP ENST00000446829 human ensembl 69_37n +1 known nonsense c.36 p.C12* 1.000 NULL pfam_TBP,prints_TBP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TBP HGNC ENSG00000112592 269 0 0.00 116 145 55.56 - - - TG 0 genome.wustl.edu 37 8 133898735 133898735 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 133898735 133898735 C T SNP TG ENST00000220616 human ensembl 69_37n +1 known missense c.1118 p.S373F 1.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 76 0 0.00 149 24 13.87 - - - TMC2 0 genome.wustl.edu 37 20 2552868 2552868 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 20 2552868 2552868 A G SNP TMC2 ENST00000358864 human ensembl 69_37n +1 known missense c.598 p.K200E 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 341 0 0.00 170 151 46.75 - - - TMC3 0 genome.wustl.edu 37 15 81633785 81633785 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 15 81633785 81633785 C T SNP TMC3 ENST00000359440 human ensembl 69_37n -1 known missense c.1790 p.S597N 1.000 pfam_TMC pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 111 0 0.00 45 29 39.19 - - - TP53 0 genome.wustl.edu 37 17 7577610 7577610 + Splice_Site SNP T T C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 17 7577610 7577610 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.673-2 e6-2 0.999 - - - no_errors TP53 HGNC ENSG00000141510 195 0 0.00 18 75 80.65 - - - TRIM65 0 genome.wustl.edu 37 17 73888871 73888871 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 17 73888871 73888871 G C SNP TRIM65 ENST00000269383 human ensembl 69_37n -1 known missense c.475 p.L159V 0.955 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 73 0 0.00 88 15 14.56 - - - TTC21A 0 genome.wustl.edu 37 3 39167781 39167781 + Silent SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 39167781 39167781 A G SNP TTC21A ENST00000301819 human ensembl 69_37n +1 known silent c.1446 p.P482 0.849 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 186 1 0.53 14 76 84.44 - - - TTN 0 genome.wustl.edu 37 2 179400248 179400248 + Silent SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 179400248 179400248 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.93390 p.V31130 0.886 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 98 0 0.00 27 67 71.28 - - - TTN 0 genome.wustl.edu 37 2 179499339 179499339 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 179499339 179499339 C A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.34465 p.A11489S 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 39 0 0.00 17 10 37.04 - - - TTN 0 genome.wustl.edu 37 2 179647781 179647781 + Missense_Mutation SNP T T A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 179647781 179647781 T A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.2852 p.N951I 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 26 0 0.00 25 9 26.47 - - - UGT1A3 0 genome.wustl.edu 37 2 234638190 234638190 + Missense_Mutation SNP C C A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 2 234638190 234638190 C A SNP UGT1A3 ENST00000482026 human ensembl 69_37n +1 known missense c.418 p.H140N 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 313 0 0.00 16 263 94.27 - - - VSTM2B 0 genome.wustl.edu 37 19 30054804 30054804 + Missense_Mutation SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 19 30054804 30054804 C T SNP VSTM2B ENST00000335523 human ensembl 69_37n +1 known missense c.821 p.A274V 0.982 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2B HGNC ENSG00000187135 63 0 0.00 31 25 44.64 - - - XIAP 0 genome.wustl.edu 37 X 123040998 123040998 + Silent SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 X 123040998 123040998 C G SNP XIAP ENST00000355640 human ensembl 69_37n +1 known silent c.1461 p.V487 0.279 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC ENSG00000101966 134 0 0.00 74 53 41.73 - - - XPO5 0 genome.wustl.edu 37 6 43535089 43535089 + Silent SNP C C T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 43535089 43535089 C T SNP XPO5 ENST00000265351 human ensembl 69_37n -1 known silent c.651 p.A217 0.998 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 53 0 0.00 34 26 42.62 - - - YEATS2 0 genome.wustl.edu 37 3 183479305 183479305 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 183479305 183479305 C G SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.1667 p.S556C 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 125 0 0.00 86 104 54.74 - - - ZBTB24 0 genome.wustl.edu 37 6 109787658 109787658 + Nonsense_Mutation SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 109787658 109787658 A C SNP ZBTB24 ENST00000230122 human ensembl 69_37n -1 known nonsense c.1490 p.L497* 0.035 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 122 0 0.00 46 41 47.13 - - - ZFHX4 0 genome.wustl.edu 37 8 77617914 77617914 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 77617914 77617914 G A SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.1591 p.D531N 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 53 0 0.00 39 16 29.09 - - - ZFPM2 0 genome.wustl.edu 37 8 106815139 106815139 + Silent SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 8 106815139 106815139 G A SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known silent c.2829 p.K943 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 26 0 0.00 35 16 31.37 - - - ZNF167 0 genome.wustl.edu 37 3 44607075 44607075 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 3 44607075 44607075 G T SNP ZNF167 ENST00000273320 human ensembl 69_37n +1 known missense c.520 p.G174C 0.151 NULL 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 ZNF167 HGNC ENSG00000196345 183 0 0.00 7 60 89.55 - - - ZNF536 0 genome.wustl.edu 37 19 30935520 30935520 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 19 30935520 30935520 G A SNP ZNF536 ENST00000355537 human ensembl 69_37n +1 known missense c.1051 p.G351S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 49 0 0.00 18 16 47.06 - - - ZNF544 0 genome.wustl.edu 37 19 58773330 58773330 + Missense_Mutation SNP T T C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 19 58773330 58773330 T C SNP ZNF544 ENST00000269829 human ensembl 69_37n +1 known missense c.1358 p.V453A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 50 0 0.00 47 10 17.54 - - - ZUFSP 0 genome.wustl.edu 37 6 116973262 116973262 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18ee29ae-fe36-49a3-9843-e0757c69a7dd 023ceb74-14a9-4316-8e15-cad12165baa0 6 116973262 116973262 G C SNP ZUFSP ENST00000368576 human ensembl 69_37n -1 known missense c.1055 p.S352C 1.000 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 255 0 0.00 113 79 40.93 - - -