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 ADD2 0 genome.wustl.edu 37 2 70905837 70905837 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 2 70905837 70905837 G A SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known missense c.1382 p.T461M 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 124 0 0.00 121 44 26.51 - - - ADD2 0 genome.wustl.edu 37 2 70905837 70905837 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 70905837 70905837 G A SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known missense c.1382 p.T461M 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 123 0 0.00 121 44 26.51 - - - AKR1C1 0 genome.wustl.edu 37 10 5010526 5010526 + Missense_Mutation SNP A A T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 10 5010526 5010526 A T SNP AKR1C1 ENST00000380872 human ensembl 69_37n +1 known missense c.395 p.D132V 0.929 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 30 0 0.00 38 5 11.36 - - - ALK 0 genome.wustl.edu 37 2 29462567 29462567 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 2 29462567 29462567 C G SNP ALK ENST00000389048 human ensembl 69_37n -1 known missense c.2334 p.Q778H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 69 0 0.00 49 10 16.95 - - - ALK 0 genome.wustl.edu 37 2 29462567 29462567 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 29462567 29462567 C G SNP ALK ENST00000389048 human ensembl 69_37n -1 known missense c.2334 p.Q778H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 62 0 0.00 49 10 16.95 - - - ARID4B 0 genome.wustl.edu 37 1 235345440 235345440 + Nonsense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 235345440 235345440 G C SNP ARID4B ENST00000474953 human ensembl 69_37n -1 known nonsense c.734 p.S245* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARID4B HGNC ENSG00000054267 45 0 0.00 120 14 10.45 - - - ARID4B 0 genome.wustl.edu 37 1 235345440 235345440 + Nonsense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 235345440 235345440 G C SNP ARID4B ENST00000474953 human ensembl 69_37n -1 known nonsense c.734 p.S245* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARID4B HGNC ENSG00000054267 72 0 0.00 120 14 10.45 - - - ARMC3 0 genome.wustl.edu 37 10 23321928 23321928 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 10 23321928 23321928 C G SNP ARMC3 ENST00000298032 human ensembl 69_37n +1 known missense c.2385 p.F795L 0.997 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 70 0 0.00 95 25 20.83 - - - ARMC3 0 genome.wustl.edu 37 10 23321928 23321928 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 10 23321928 23321928 C G SNP ARMC3 ENST00000298032 human ensembl 69_37n +1 known missense c.2385 p.F795L 0.997 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 96 0 0.00 95 25 20.83 - - - ATP2A1 0 genome.wustl.edu 37 16 28895954 28895954 + Silent SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 16 28895954 28895954 G T SNP ATP2A1 ENST00000357084 human ensembl 69_37n +1 known silent c.522 p.R174 0.966 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 58 0 0.00 89 16 15.24 - - - ATP2A1 0 genome.wustl.edu 37 16 28895954 28895954 + Silent SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 16 28895954 28895954 G T SNP ATP2A1 ENST00000357084 human ensembl 69_37n +1 known silent c.522 p.R174 0.966 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 57 0 0.00 89 16 15.24 - - - BCHE 0 genome.wustl.edu 37 3 165547581 165547581 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 3 165547581 165547581 C T SNP BCHE ENST00000264381 human ensembl 69_37n -1 known missense c.1241 p.R414H 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 22 0 0.00 55 13 19.12 - - - BCHE 0 genome.wustl.edu 37 3 165547581 165547581 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 3 165547581 165547581 C T SNP BCHE ENST00000264381 human ensembl 69_37n -1 known missense c.1241 p.R414H 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 47 0 0.00 55 13 19.12 - - - BRI3 0 genome.wustl.edu 37 7 97921989 97921989 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 7 97921989 97921989 G C SNP BRI3 ENST00000539286 human ensembl 69_37n +1 known missense c.284 p.R95T 0.000 NULL pfam_Brain_I3 - no_errors BRI3 HGNC ENSG00000164713 53 0 0.00 63 14 18.18 - - - BRI3 0 genome.wustl.edu 37 7 97921989 97921989 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 97921989 97921989 G C SNP BRI3 ENST00000539286 human ensembl 69_37n +1 known missense c.284 p.R95T 0.000 NULL pfam_Brain_I3 - no_errors BRI3 HGNC ENSG00000164713 71 0 0.00 63 14 18.18 - - - BRWD3 0 genome.wustl.edu 37 X 79989644 79989644 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e X 79989644 79989644 C G SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.1059 p.E353D 1.000 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 122 0 0.00 101 29 22.31 - - - BRWD3 0 genome.wustl.edu 37 X 79989644 79989644 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 X 79989644 79989644 C G SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.1059 p.E353D 1.000 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 146 0 0.00 101 29 22.31 - - - C22orf34 0 genome.wustl.edu 37 22 50018069 50018069 + Missense_Mutation SNP A A G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 22 50018069 50018069 A G SNP C22orf34 ENST00000444628 human ensembl 69_37n -1 known missense c.392 p.L131P 0.457 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 69 0 0.00 58 12 17.14 - - - C4orf26 0 genome.wustl.edu 37 4 76481299 76481299 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 4 76481299 76481299 C G SNP C4orf26 ENST00000311623 human ensembl 69_37n +1 known missense c.7 p.R3G 0.000 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 104 0 0.00 152 30 16.39 - - - C4orf26 0 genome.wustl.edu 37 4 76481299 76481299 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 4 76481299 76481299 C G SNP C4orf26 ENST00000311623 human ensembl 69_37n +1 known missense c.7 p.R3G 0.000 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 138 0 0.00 152 30 16.39 - - - C7orf33 0 genome.wustl.edu 37 7 148311310 148311310 + Silent SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 7 148311310 148311310 C A SNP C7orf33 ENST00000307003 human ensembl 69_37n +1 known silent c.381 p.G127 0.001 NULL NULL - no_errors C7orf33 HGNC ENSG00000170279 47 0 0.00 95 11 10.38 - - - C7orf33 0 genome.wustl.edu 37 7 148311310 148311310 + Silent SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 148311310 148311310 C A SNP C7orf33 ENST00000307003 human ensembl 69_37n +1 known silent c.381 p.G127 0.001 NULL NULL - no_errors C7orf33 HGNC ENSG00000170279 59 0 0.00 95 11 10.38 - - - C7orf57 0 genome.wustl.edu 37 7 48094195 48094195 + Missense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 7 48094195 48094195 C A SNP C7orf57 ENST00000348904 human ensembl 69_37n +1 known missense c.833 p.S278Y 0.994 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 54 0 0.00 49 13 20.97 - - - C7orf57 0 genome.wustl.edu 37 7 48094195 48094195 + Missense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 48094195 48094195 C A SNP C7orf57 ENST00000348904 human ensembl 69_37n +1 known missense c.833 p.S278Y 0.994 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 55 0 0.00 49 13 20.97 - - - CCDC158 0 genome.wustl.edu 37 4 77317569 77317569 + Silent SNP A A T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 4 77317569 77317569 A T SNP CCDC158 ENST00000388914 human ensembl 69_37n -1 known silent c.141 p.T47 0.994 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 59 0 0.00 71 13 15.48 - - - CCDC158 0 genome.wustl.edu 37 4 77317569 77317569 + Silent SNP A A T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 4 77317569 77317569 A T SNP CCDC158 ENST00000388914 human ensembl 69_37n -1 known silent c.141 p.T47 0.994 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 60 0 0.00 71 13 15.48 - - - CD244 0 genome.wustl.edu 37 1 160808754 160808754 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 160808754 160808754 C G SNP CD244 ENST00000368033 human ensembl 69_37n -1 known missense c.756 p.R252S 0.757 NULL pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like - no_errors CD244 HGNC ENSG00000122223 60 0 0.00 75 11 12.79 - - - CD244 0 genome.wustl.edu 37 1 160808754 160808754 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 160808754 160808754 C G SNP CD244 ENST00000368033 human ensembl 69_37n -1 known missense c.756 p.R252S 0.757 NULL pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like - no_errors CD244 HGNC ENSG00000122223 65 0 0.00 75 11 12.79 - - - CDK5RAP1 0 genome.wustl.edu 37 20 31980029 31980029 + Missense_Mutation SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 20 31980029 31980029 T C SNP CDK5RAP1 ENST00000357886 human ensembl 69_37n -1 known missense c.463 p.I155V 1.000 pfam_Methylthiotransferase_N,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 72 0 0.00 133 26 16.35 - - - CDK5RAP1 0 genome.wustl.edu 37 20 31980029 31980029 + Missense_Mutation SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 20 31980029 31980029 T C SNP CDK5RAP1 ENST00000357886 human ensembl 69_37n -1 known missense c.463 p.I155V 1.000 pfam_Methylthiotransferase_N,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 61 0 0.00 133 26 16.35 - - - CEP350 0 genome.wustl.edu 37 1 180065244 180065244 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 180065244 180065244 C G SNP CEP350 ENST00000429851 human ensembl 69_37n +1 novel missense c.3514 p.L1172V 0.969 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CEP350 HGNC ENSG00000135837 55 0 0.00 116 15 11.45 - - - CEP350 0 genome.wustl.edu 37 1 180065244 180065244 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 180065244 180065244 C G SNP CEP350 ENST00000429851 human ensembl 69_37n +1 novel missense c.3514 p.L1172V 0.969 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CEP350 HGNC ENSG00000135837 64 0 0.00 116 15 11.45 - - - CEP41 0 genome.wustl.edu 37 7 130066545 130066545 + Silent SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 7 130066545 130066545 G C SNP CEP41 ENST00000471201 human ensembl 69_37n -1 known silent c.153 p.L51 0.000 NULL NULL - no_errors CEP41 HGNC ENSG00000106477 28 0 0.00 63 12 16.00 - - - CEP41 0 genome.wustl.edu 37 7 130066545 130066545 + Silent SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 130066545 130066545 G C SNP CEP41 ENST00000471201 human ensembl 69_37n -1 known silent c.153 p.L51 0.000 NULL NULL - no_errors CEP41 HGNC ENSG00000106477 33 0 0.00 63 12 16.00 - - - COBLL1 0 genome.wustl.edu 37 2 165550995 165550995 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 2 165550995 165550995 C G SNP COBLL1 ENST00000194871 human ensembl 69_37n -1 known missense c.3222 p.K1074N 1.000 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 26 0 0.00 47 16 25.40 - - - COBLL1 0 genome.wustl.edu 37 2 165550995 165550995 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 165550995 165550995 C G SNP COBLL1 ENST00000194871 human ensembl 69_37n -1 known missense c.3222 p.K1074N 1.000 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 46 0 0.00 47 16 25.40 - - - DNASE2 0 genome.wustl.edu 37 19 12987168 12987168 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 19 12987168 12987168 G C SNP DNASE2 ENST00000222219 human ensembl 69_37n -1 known missense c.719 p.S240C 0.468 pfam_DNase_II pfam_DNase_II - no_errors DNASE2 HGNC ENSG00000105612 40 0 0.00 80 10 11.11 - - - DNASE2 0 genome.wustl.edu 37 19 12987168 12987168 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 19 12987168 12987168 G C SNP DNASE2 ENST00000222219 human ensembl 69_37n -1 known missense c.719 p.S240C 0.468 pfam_DNase_II pfam_DNase_II - no_errors DNASE2 HGNC ENSG00000105612 57 0 0.00 80 10 11.11 - - - EP300 0 genome.wustl.edu 37 22 41572386 41572386 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 22 41572386 41572386 C T SNP EP300 ENST00000263253 human ensembl 69_37n +1 known silent c.4915 p.L1639 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 62 0 0.00 82 19 18.81 - - - EP300 0 genome.wustl.edu 37 22 41572386 41572386 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 22 41572386 41572386 C T SNP EP300 ENST00000263253 human ensembl 69_37n +1 known silent c.4915 p.L1639 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 74 0 0.00 82 19 18.81 - - - ERP29 0 genome.wustl.edu 37 12 112460145 112460145 + Frame_Shift_Del DEL C C - TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 12 112460145 112460145 C - DEL ERP29 ENST00000261735 human ensembl 69_37n +1 known frame_shift_del c.475 p.P159fs 0.971 pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 57 0 0.00 70 15 17.24 - - - ERP29 0 genome.wustl.edu 37 12 112460145 112460145 + Frame_Shift_Del DEL C C - TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 12 112460145 112460145 C - DEL ERP29 ENST00000261735 human ensembl 69_37n +1 known frame_shift_del c.475 p.P159fs 0.971 pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 99 0 0.00 70 15 17.24 - - - ETNK2 0 genome.wustl.edu 37 1 204116010 204116010 + Missense_Mutation SNP A A C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 204116010 204116010 A C SNP ETNK2 ENST00000452983 human ensembl 69_37n -1 putative missense c.79 p.L27V 0.000 NULL pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region ETNK2 HGNC ENSG00000143845 35 0 0.00 81 18 18.18 - - - ETNK2 0 genome.wustl.edu 37 1 204116010 204116010 + Missense_Mutation SNP A A C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 204116010 204116010 A C SNP ETNK2 ENST00000452983 human ensembl 69_37n -1 putative missense c.79 p.L27V 0.000 NULL pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region ETNK2 HGNC ENSG00000143845 74 0 0.00 81 18 18.18 - - - FAM184B 0 genome.wustl.edu 37 4 17710554 17710554 + Silent SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 4 17710554 17710554 G A SNP FAM184B ENST00000265018 human ensembl 69_37n -1 known silent c.855 p.D285 1.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 52 0 0.00 64 19 22.89 - - - FAM184B 0 genome.wustl.edu 37 4 17710554 17710554 + Silent SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 4 17710554 17710554 G A SNP FAM184B ENST00000265018 human ensembl 69_37n -1 known silent c.855 p.D285 1.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 63 0 0.00 64 19 22.89 - - - FAM45A 0 genome.wustl.edu 37 10 120896927 120896927 + RNA SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 10 120896927 120896927 G A SNP FAM45A ENST00000489988 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors FAM45A HGNC ENSG00000119979 34 0 0.00 30 6 16.67 - - - FCGR3B 0 genome.wustl.edu 37 1 161599571 161599571 + Missense_Mutation SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 161599571 161599571 T C SNP FCGR3B ENST00000294800 human ensembl 69_37n -1 known missense c.316 p.I106V 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors FCGR3B HGNC ENSG00000162747 38 0 0.00 62 10 13.70 - - - GARNL3 0 genome.wustl.edu 37 9 130005533 130005533 + Splice_Site SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 9 130005533 130005533 G C SNP GARNL3 ENST00000441134 human ensembl 69_37n +1 known splice_site c.147+1 e1+1 1.000 - - - no_errors GARNL3 HGNC ENSG00000136895 78 0 0.00 87 12 12.00 - - - GARNL3 0 genome.wustl.edu 37 9 130005533 130005533 + Splice_Site SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 9 130005533 130005533 G C SNP GARNL3 ENST00000441134 human ensembl 69_37n +1 known splice_site c.147+1 e1+1 1.000 - - - no_errors GARNL3 HGNC ENSG00000136895 102 0 0.00 87 12 12.00 - - - GIT1 0 genome.wustl.edu 37 17 27902412 27902412 + Missense_Mutation SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 17 27902412 27902412 G T SNP GIT1 ENST00000394869 human ensembl 69_37n -1 known missense c.1930 p.L644I 0.997 pfam_GIT1_C pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT1 HGNC ENSG00000108262 40 0 0.00 54 17 23.94 - - - GIT1 0 genome.wustl.edu 37 17 27902412 27902412 + Missense_Mutation SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 17 27902412 27902412 G T SNP GIT1 ENST00000394869 human ensembl 69_37n -1 known missense c.1930 p.L644I 0.997 pfam_GIT1_C pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT1 HGNC ENSG00000108262 34 0 0.00 54 17 23.94 - - - GOLGA6B 0 genome.wustl.edu 37 15 72955060 72955060 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 15 72955060 72955060 G A SNP GOLGA6B ENST00000421285 human ensembl 69_37n +1 known missense c.1315 p.D439N 0.995 NULL NULL - no_errors GOLGA6B HGNC ENSG00000215186 120 1 0.83 84 13 13.40 - - - GOLGA7 0 genome.wustl.edu 37 8 41367608 41367608 + RNA SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 8 41367608 41367608 T C SNP GOLGA7 ENST00000521417 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors GOLGA7 HGNC ENSG00000147533 36 0 0.00 30 5 14.29 - - - HECW1-IT1 0 genome.wustl.edu 37 7 43157968 43157968 + RNA SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 7 43157968 43157968 G T SNP HECW1-IT1 ENST00000322220 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors HECW1-IT1 HGNC ENSG00000181211 33 0 0.00 39 5 11.36 - - - HEPACAM2 0 genome.wustl.edu 37 7 92818293 92818293 + RNA SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 92818293 92818293 T C SNP HEPACAM2 ENST00000492616 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors HEPACAM2 HGNC ENSG00000188175 37 0 0.00 32 4 11.11 - - - HJURP 0 genome.wustl.edu 37 2 234750144 234750144 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 2 234750144 234750144 C G SNP HJURP ENST00000411486 human ensembl 69_37n -1 known missense c.1282 p.E428Q 0.000 pfam_HJURP_C pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 79 0 0.00 111 36 24.49 - - - HJURP 0 genome.wustl.edu 37 2 234750144 234750144 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 234750144 234750144 C G SNP HJURP ENST00000411486 human ensembl 69_37n -1 known missense c.1282 p.E428Q 0.000 pfam_HJURP_C pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 98 0 0.00 111 36 24.49 - - - HOXC13 0 genome.wustl.edu 37 12 54333415 54333415 + Missense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 12 54333415 54333415 C A SNP HOXC13 ENST00000243056 human ensembl 69_37n +1 known missense c.725 p.S242Y 1.000 NULL pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HOXC13 HGNC ENSG00000123364 19 0 0.00 30 6 16.67 - - - HOXC13 0 genome.wustl.edu 37 12 54333415 54333415 + Missense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 12 54333415 54333415 C A SNP HOXC13 ENST00000243056 human ensembl 69_37n +1 known missense c.725 p.S242Y 1.000 NULL pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HOXC13 HGNC ENSG00000123364 25 0 0.00 30 6 16.67 - - - HPX 0 genome.wustl.edu 37 11 6452495 6452495 + Silent SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 11 6452495 6452495 G C SNP HPX ENST00000265983 human ensembl 69_37n -1 known silent c.1335 p.A445 0.784 superfamily_Hemopexin/matrixin,pirsf_Hemopexin_chordata pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 63 0 0.00 53 19 26.39 - - - HPX 0 genome.wustl.edu 37 11 6452495 6452495 + Silent SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 11 6452495 6452495 G C SNP HPX ENST00000265983 human ensembl 69_37n -1 known silent c.1335 p.A445 0.784 superfamily_Hemopexin/matrixin,pirsf_Hemopexin_chordata pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 66 0 0.00 53 19 26.39 - - - IFT81 0 genome.wustl.edu 37 12 110566802 110566802 + Missense_Mutation SNP A A G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 12 110566802 110566802 A G SNP IFT81 ENST00000242591 human ensembl 69_37n +1 known missense c.296 p.Y99C 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 36 0 0.00 73 11 13.10 - - - IGFLR1 0 genome.wustl.edu 37 19 36230200 36230200 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 19 36230200 36230200 G A SNP IGFLR1 ENST00000246532 human ensembl 69_37n -1 known missense c.1049 p.S350F 0.000 NULL superfamily_DEATH-like - no_errors IGFLR1 HGNC ENSG00000126246 13 0 0.00 30 11 26.83 - - - IGFLR1 0 genome.wustl.edu 37 19 36230200 36230200 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 19 36230200 36230200 G A SNP IGFLR1 ENST00000246532 human ensembl 69_37n -1 known missense c.1049 p.S350F 0.000 NULL superfamily_DEATH-like - no_errors IGFLR1 HGNC ENSG00000126246 24 0 0.00 30 11 26.83 - - - IL1RL1 0 genome.wustl.edu 37 2 102954653 102954653 + RNA SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 102954653 102954653 C T SNP IL1RL1 ENST00000473175 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors IL1RL1 HGNC ENSG00000115602 26 0 0.00 36 4 10.00 - - - IL32 0 genome.wustl.edu 37 16 3131810 3131810 + Silent SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 16 3131810 3131810 T C SNP IL32 ENST00000525377 human ensembl 69_37n +1 putative silent c.516 p.V172 0.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region IL32 HGNC ENSG00000008517 24 0 0.00 22 10 31.25 - - - INTS4L1 0 genome.wustl.edu 37 7 64645801 64645801 + RNA SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 64645801 64645801 C G SNP INTS4L1 ENST00000587624 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 26 0 0.00 13 4 23.53 - - - KDM5C 0 genome.wustl.edu 37 X 53250992 53250992 + RNA SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e X 53250992 53250992 T C SNP KDM5C ENST00000467093 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors KDM5C HGNC ENSG00000126012 31 0 0.00 25 14 35.90 - - - KDM5C 0 genome.wustl.edu 37 X 53250992 53250992 + RNA SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 X 53250992 53250992 T C SNP KDM5C ENST00000467093 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors KDM5C HGNC ENSG00000126012 39 0 0.00 25 14 35.90 - - - KIF13A 0 genome.wustl.edu 37 6 17773763 17773763 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 6 17773763 17773763 C G SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known missense c.4270 p.D1424H 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 72 0 0.00 102 16 13.56 - - - KIF13A 0 genome.wustl.edu 37 6 17773763 17773763 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 6 17773763 17773763 C G SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known missense c.4270 p.D1424H 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 110 0 0.00 102 16 13.56 - - - KRTAP19-6 0 genome.wustl.edu 37 21 31914008 31914008 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 21 31914008 31914008 G A SNP KRTAP19-6 ENST00000334046 human ensembl 69_37n -1 known missense c.145 p.R49C 0.000 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-6 HGNC ENSG00000186925 77 0 0.00 106 26 19.55 - - - KRTAP19-6 0 genome.wustl.edu 37 21 31914008 31914008 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 21 31914008 31914008 G A SNP KRTAP19-6 ENST00000334046 human ensembl 69_37n -1 known missense c.145 p.R49C 0.000 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-6 HGNC ENSG00000186925 116 0 0.00 106 26 19.55 - - - LAX1 0 genome.wustl.edu 37 1 203743475 203743475 + Missense_Mutation SNP T T G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 203743475 203743475 T G SNP LAX1 ENST00000442561 human ensembl 69_37n +1 known missense c.863 p.F288C 0.004 NULL NULL - no_errors LAX1 HGNC ENSG00000122188 40 0 0.00 104 20 16.13 - - - LAX1 0 genome.wustl.edu 37 1 203743475 203743475 + Missense_Mutation SNP T T G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 203743475 203743475 T G SNP LAX1 ENST00000442561 human ensembl 69_37n +1 known missense c.863 p.F288C 0.004 NULL NULL - no_errors LAX1 HGNC ENSG00000122188 59 0 0.00 104 20 16.13 - - - LBR 0 genome.wustl.edu 37 1 225610003 225610003 + RNA SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 225610003 225610003 G C SNP LBR ENST00000488632 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LBR HGNC ENSG00000143815 25 0 0.00 35 8 18.60 - - - LBR 0 genome.wustl.edu 37 1 225610003 225610003 + RNA SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 225610003 225610003 G C SNP LBR ENST00000488632 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LBR HGNC ENSG00000143815 20 0 0.00 35 8 18.60 - - - LDLR 0 genome.wustl.edu 37 19 11241989 11241989 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 19 11241989 11241989 G A SNP LDLR ENST00000557933 human ensembl 69_37n +1 novel missense c.2642 p.R881H 0.180 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LDLR HGNC ENSG00000130164 51 0 0.00 72 22 23.40 - - - LDLR 0 genome.wustl.edu 37 19 11241989 11241989 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 19 11241989 11241989 G A SNP LDLR ENST00000557933 human ensembl 69_37n +1 novel missense c.2642 p.R881H 0.180 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LDLR HGNC ENSG00000130164 66 0 0.00 72 22 23.40 - - - LINC00299 0 genome.wustl.edu 37 2 8437158 8437158 + RNA SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 2 8437158 8437158 C A SNP LINC00299 ENST00000442956 human ensembl 69_37n -1 known rna NULL NULL 0.421 - - - no_errors LINC00299 HGNC ENSG00000236790 26 0 0.00 33 5 12.82 - - - LINC00299 0 genome.wustl.edu 37 2 8437158 8437158 + RNA SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 8437158 8437158 C A SNP LINC00299 ENST00000442956 human ensembl 69_37n -1 known rna NULL NULL 0.421 - - - no_errors LINC00299 HGNC ENSG00000236790 38 0 0.00 33 5 12.82 - - - LMCD1 0 genome.wustl.edu 37 3 8556671 8556671 + Missense_Mutation SNP T T G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 3 8556671 8556671 T G SNP LMCD1 ENST00000415597 human ensembl 69_37n +1 novel missense c.50 p.F17C 0.001 NULL pfam_PET_domain - no_stop_codon:bad_bp_length_for_coding_region LMCD1 HGNC ENSG00000071282 39 0 0.00 62 7 10.14 - - - LMCD1 0 genome.wustl.edu 37 3 8556671 8556671 + Missense_Mutation SNP T T G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 3 8556671 8556671 T G SNP LMCD1 ENST00000415597 human ensembl 69_37n +1 novel missense c.50 p.F17C 0.001 NULL pfam_PET_domain - no_stop_codon:bad_bp_length_for_coding_region LMCD1 HGNC ENSG00000071282 49 0 0.00 62 7 10.14 - - - LTBP4 0 genome.wustl.edu 37 19 41123062 41123062 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 19 41123062 41123062 C T SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known silent c.3202 p.L1068 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 165 0 0.00 136 38 21.84 - - - LTBP4 0 genome.wustl.edu 37 19 41123062 41123062 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 19 41123062 41123062 C T SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known silent c.3202 p.L1068 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 177 0 0.00 136 38 21.84 - - - MORN4 0 genome.wustl.edu 37 10 99379309 99379309 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 10 99379309 99379309 G C SNP MORN4 ENST00000370635 human ensembl 69_37n -1 novel missense c.102 p.N34K 0.001 NULL NULL - no_errors MORN4 HGNC ENSG00000171160 34 0 0.00 48 25 34.25 - - - MORN4 0 genome.wustl.edu 37 10 99379309 99379309 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 10 99379309 99379309 G C SNP MORN4 ENST00000370635 human ensembl 69_37n -1 novel missense c.102 p.N34K 0.001 NULL NULL - no_errors MORN4 HGNC ENSG00000171160 65 0 0.00 48 25 34.25 - - - MRGPRX2 0 genome.wustl.edu 37 11 19077008 19077008 + Silent SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 11 19077008 19077008 T C SNP MRGPRX2 ENST00000329773 human ensembl 69_37n -1 known silent c.942 p.E314 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 47 0 0.00 64 18 21.43 - - - MRGPRX2 0 genome.wustl.edu 37 11 19077008 19077008 + Silent SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 11 19077008 19077008 T C SNP MRGPRX2 ENST00000329773 human ensembl 69_37n -1 known silent c.942 p.E314 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 56 0 0.00 64 18 21.43 - - - MUC20 0 genome.wustl.edu 37 3 195453258 195453258 + Missense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 3 195453258 195453258 C A SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known missense c.1784 p.A595E 0.001 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 38 0 0.00 82 15 15.46 - - - MUC20 0 genome.wustl.edu 37 3 195453258 195453258 + Missense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 3 195453258 195453258 C A SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known missense c.1784 p.A595E 0.001 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 45 0 0.00 82 15 15.46 - - - NCR3LG1 0 genome.wustl.edu 37 11 17393584 17393584 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 11 17393584 17393584 C T SNP NCR3LG1 ENST00000530403 human ensembl 69_37n +1 known missense c.890 p.P297L 0.265 pfam_G_retro_matrix_N,superfamily_Retrovr_matrix_N pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors NCR3LG1 HGNC ENSG00000188211 60 0 0.00 64 14 17.95 - - - NCR3LG1 0 genome.wustl.edu 37 11 17393584 17393584 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 11 17393584 17393584 C T SNP NCR3LG1 ENST00000530403 human ensembl 69_37n +1 known missense c.890 p.P297L 0.265 pfam_G_retro_matrix_N,superfamily_Retrovr_matrix_N pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors NCR3LG1 HGNC ENSG00000188211 61 0 0.00 64 14 17.95 - - - NDUFB2 0 genome.wustl.edu 37 7 140397150 140397150 + Silent SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 7 140397150 140397150 C G SNP NDUFB2 ENST00000471136 human ensembl 69_37n +1 putative silent c.21 p.G7 0.000 NULL NULL - no_errors NDUFB2 HGNC ENSG00000090266 114 0 0.00 173 23 11.73 - - - NDUFB2 0 genome.wustl.edu 37 7 140397150 140397150 + Silent SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 140397150 140397150 C G SNP NDUFB2 ENST00000471136 human ensembl 69_37n +1 putative silent c.21 p.G7 0.000 NULL NULL - no_errors NDUFB2 HGNC ENSG00000090266 127 0 0.00 173 23 11.73 - - - NFKBIZ 0 genome.wustl.edu 37 3 101572246 101572246 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 3 101572246 101572246 G C SNP NFKBIZ ENST00000326172 human ensembl 69_37n +1 known missense c.876 p.Q292H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 56 0 0.00 68 17 20.00 - - - NFKBIZ 0 genome.wustl.edu 37 3 101572246 101572246 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 3 101572246 101572246 G C SNP NFKBIZ ENST00000326172 human ensembl 69_37n +1 known missense c.876 p.Q292H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 66 0 0.00 68 17 20.00 - - - NPTXR 0 genome.wustl.edu 37 22 39222746 39222746 + Nonsense_Mutation SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 22 39222746 39222746 G T SNP NPTXR ENST00000333039 human ensembl 69_37n -1 known nonsense c.857 p.S286* 0.660 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 30 0 0.00 30 6 16.22 - - - NPTXR 0 genome.wustl.edu 37 22 39222746 39222746 + Nonsense_Mutation SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 22 39222746 39222746 G T SNP NPTXR ENST00000333039 human ensembl 69_37n -1 known nonsense c.857 p.S286* 0.660 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 37 0 0.00 30 6 16.22 - - - OR10J5 0 genome.wustl.edu 37 1 159505095 159505095 + Missense_Mutation SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 159505095 159505095 T C SNP OR10J5 ENST00000334857 human ensembl 69_37n -1 known missense c.703 p.K235E 0.996 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 OR10J5 HGNC ENSG00000184155 37 0 0.00 72 21 22.58 - - - OR10J5 0 genome.wustl.edu 37 1 159505095 159505095 + Missense_Mutation SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 159505095 159505095 T C SNP OR10J5 ENST00000334857 human ensembl 69_37n -1 known missense c.703 p.K235E 0.996 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 OR10J5 HGNC ENSG00000184155 60 0 0.00 72 21 22.58 - - - OR2G3 0 genome.wustl.edu 37 1 247769547 247769547 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 247769547 247769547 C T SNP OR2G3 ENST00000320002 human ensembl 69_37n +1 known silent c.660 p.F220 0.672 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 OR2G3 HGNC ENSG00000177476 134 0 0.00 177 35 16.51 - - - OR2G3 0 genome.wustl.edu 37 1 247769547 247769547 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 247769547 247769547 C T SNP OR2G3 ENST00000320002 human ensembl 69_37n +1 known silent c.660 p.F220 0.672 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 OR2G3 HGNC ENSG00000177476 166 0 0.00 177 35 16.51 - - - OTUD7A 0 genome.wustl.edu 37 15 31819475 31819475 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 15 31819475 31819475 C T SNP OTUD7A ENST00000382902 human ensembl 69_37n -1 known missense c.689 p.R230Q 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 77 0 0.00 96 23 19.17 - - - OTUD7A 0 genome.wustl.edu 37 15 31819475 31819475 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 15 31819475 31819475 C T SNP OTUD7A ENST00000382902 human ensembl 69_37n -1 known missense c.689 p.R230Q 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 84 0 0.00 96 23 19.17 - - - PAG1 0 genome.wustl.edu 37 8 81897317 81897317 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 8 81897317 81897317 C T SNP PAG1 ENST00000220597 human ensembl 69_37n -1 known silent c.570 p.V190 0.733 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 57 0 0.00 145 17 10.37 - - - PAG1 0 genome.wustl.edu 37 8 81897317 81897317 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 8 81897317 81897317 C T SNP PAG1 ENST00000220597 human ensembl 69_37n -1 known silent c.570 p.V190 0.733 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 94 0 0.00 145 17 10.37 - - - PAG1 0 genome.wustl.edu 37 8 81905418 81905418 + Silent SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 8 81905418 81905418 G T SNP PAG1 ENST00000220597 human ensembl 69_37n -1 known silent c.45 p.I15 0.000 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 28 0 0.00 52 12 18.75 - - - PAG1 0 genome.wustl.edu 37 8 81905418 81905418 + Silent SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 8 81905418 81905418 G T SNP PAG1 ENST00000220597 human ensembl 69_37n -1 known silent c.45 p.I15 0.000 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 31 0 0.00 52 12 18.75 - - - PCK1 0 genome.wustl.edu 37 20 56136552 56136552 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 20 56136552 56136552 G A SNP PCK1 ENST00000319441 human ensembl 69_37n +1 known missense c.85 p.E29K 0.998 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 27 0 0.00 72 9 11.11 - - - PIK3CG 0 genome.wustl.edu 37 7 106509637 106509637 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 7 106509637 106509637 G C SNP PIK3CG ENST00000359195 human ensembl 69_37n +1 known missense c.1631 p.R544P 0.999 superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 29 0 0.00 31 7 18.42 - - - PIK3CG 0 genome.wustl.edu 37 7 106509637 106509637 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 106509637 106509637 G C SNP PIK3CG ENST00000359195 human ensembl 69_37n +1 known missense c.1631 p.R544P 0.999 superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 30 0 0.00 31 7 18.42 - - - POLM 0 genome.wustl.edu 37 7 44121874 44121874 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 7 44121874 44121874 C G SNP POLM ENST00000242248 human ensembl 69_37n -1 known missense c.164 p.G55A 1.000 superfamily_BRCT_dom,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_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 POLM HGNC ENSG00000122678 19 0 0.00 11 5 31.25 - - - POLM 0 genome.wustl.edu 37 7 44121874 44121874 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 44121874 44121874 C G SNP POLM ENST00000242248 human ensembl 69_37n -1 known missense c.164 p.G55A 1.000 superfamily_BRCT_dom,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_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 POLM HGNC ENSG00000122678 12 0 0.00 11 5 31.25 - - - PPP1R26 0 genome.wustl.edu 37 9 138376403 138376403 + Missense_Mutation SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 9 138376403 138376403 G T SNP PPP1R26 ENST00000356818 human ensembl 69_37n +1 known missense c.47 p.W16L 1.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 60 0 0.00 71 16 18.39 - - - PPP1R26 0 genome.wustl.edu 37 9 138376403 138376403 + Missense_Mutation SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 9 138376403 138376403 G T SNP PPP1R26 ENST00000356818 human ensembl 69_37n +1 known missense c.47 p.W16L 1.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 51 0 0.00 71 16 18.39 - - - PRDX2 0 genome.wustl.edu 37 19 12907948 12907948 + Missense_Mutation SNP T T A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 19 12907948 12907948 T A SNP PRDX2 ENST00000301522 human ensembl 69_37n -1 known missense c.544 p.T182S 1.000 pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX2 HGNC ENSG00000167815 74 0 0.00 92 11 10.58 - - - PRDX2 0 genome.wustl.edu 37 19 12907948 12907948 + Missense_Mutation SNP T T A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 19 12907948 12907948 T A SNP PRDX2 ENST00000301522 human ensembl 69_37n -1 known missense c.544 p.T182S 1.000 pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX2 HGNC ENSG00000167815 73 0 0.00 92 11 10.58 - - - PREX2 0 genome.wustl.edu 37 8 68995526 68995526 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 8 68995526 68995526 G A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.1930 p.V644I 1.000 superfamily_PDZ,smart_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 65 0 0.00 140 18 11.32 - - - PREX2 0 genome.wustl.edu 37 8 68995526 68995526 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 8 68995526 68995526 G A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.1930 p.V644I 1.000 superfamily_PDZ,smart_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 135 0 0.00 140 18 11.32 - - - PSMD12 0 genome.wustl.edu 37 17 65337029 65337029 + Nonsense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 17 65337029 65337029 G C SNP PSMD12 ENST00000356126 human ensembl 69_37n -1 known nonsense c.1301 p.S434* 1.000 smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 67 0 0.00 113 22 16.30 - - - PSMD12 0 genome.wustl.edu 37 17 65337029 65337029 + Nonsense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 17 65337029 65337029 G C SNP PSMD12 ENST00000356126 human ensembl 69_37n -1 known nonsense c.1301 p.S434* 1.000 smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 97 0 0.00 113 22 16.30 - - - RBM43 0 genome.wustl.edu 37 2 152107795 152107795 + Missense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 2 152107795 152107795 C A SNP RBM43 ENST00000331426 human ensembl 69_37n -1 known missense c.699 p.K233N 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 67 0 0.00 86 20 18.87 - - - RBM43 0 genome.wustl.edu 37 2 152107795 152107795 + Missense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 152107795 152107795 C A SNP RBM43 ENST00000331426 human ensembl 69_37n -1 known missense c.699 p.K233N 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 66 0 0.00 86 20 18.87 - - - RNF216P1 0 genome.wustl.edu 37 7 5028945 5028945 + RNA SNP A A G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 5028945 5028945 A G SNP RNF216P1 ENST00000466622 human ensembl 69_37n +1 known rna NULL NULL 0.017 - - - no_errors RNF216P1 HGNC ENSG00000196204 27 0 0.00 41 6 12.77 - - - RNF216P1 0 genome.wustl.edu 37 7 5028956 5028956 + RNA SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 7 5028956 5028956 C A SNP RNF216P1 ENST00000466622 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors RNF216P1 HGNC ENSG00000196204 22 0 0.00 33 5 13.16 - - - SLA2 0 genome.wustl.edu 37 20 35262008 35262008 + Silent SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 20 35262008 35262008 C G SNP SLA2 ENST00000262866 human ensembl 69_37n -1 known silent c.216 p.L72 0.944 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA2 HGNC ENSG00000101082 28 0 0.00 44 7 13.46 - - - SLA2 0 genome.wustl.edu 37 20 35262008 35262008 + Silent SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 20 35262008 35262008 C G SNP SLA2 ENST00000262866 human ensembl 69_37n -1 known silent c.216 p.L72 0.944 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA2 HGNC ENSG00000101082 32 0 0.00 44 7 13.46 - - - SLC30A9 0 genome.wustl.edu 37 4 42080253 42080253 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 4 42080253 42080253 G A SNP SLC30A9 ENST00000264451 human ensembl 69_37n +1 known missense c.1573 p.E525K 1.000 NULL pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 42 0 0.00 60 14 18.92 - - - SLC30A9 0 genome.wustl.edu 37 4 42080253 42080253 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 4 42080253 42080253 G A SNP SLC30A9 ENST00000264451 human ensembl 69_37n +1 known missense c.1573 p.E525K 1.000 NULL pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 50 0 0.00 60 14 18.92 - - - SLC4A11 0 genome.wustl.edu 37 20 3215479 3215479 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 20 3215479 3215479 C G SNP SLC4A11 ENST00000380059 human ensembl 69_37n -1 known missense c.279 p.E93D 0.512 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 50 0 0.00 53 6 10.00 - - - SLC4A11 0 genome.wustl.edu 37 20 3215479 3215479 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 20 3215479 3215479 C G SNP SLC4A11 ENST00000380059 human ensembl 69_37n -1 known missense c.279 p.E93D 0.512 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 33 0 0.00 53 6 10.00 - - - SLC7A11-AS1 0 genome.wustl.edu 37 4 139092719 139092719 + RNA SNP A A G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 4 139092719 139092719 A G SNP SLC7A11-AS1 ENST00000510767 human ensembl 69_37n +1 known rna NULL NULL 0.035 - - - no_errors SLC7A11-AS1 HGNC ENSG00000250033 26 0 0.00 54 6 10.00 - - - SLC7A11-AS1 0 genome.wustl.edu 37 4 139092719 139092719 + RNA SNP A A G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 4 139092719 139092719 A G SNP SLC7A11-AS1 ENST00000510767 human ensembl 69_37n +1 known rna NULL NULL 0.035 - - - no_errors SLC7A11-AS1 HGNC ENSG00000250033 61 0 0.00 54 6 10.00 - - - SLIT3 0 genome.wustl.edu 37 5 168181006 168181006 + Silent SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 5 168181006 168181006 C G SNP SLIT3 ENST00000519560 human ensembl 69_37n -1 known silent c.1692 p.L564 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp pfam_EGF-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 35 0 0.00 56 10 15.15 - - - SLIT3 0 genome.wustl.edu 37 5 168181006 168181006 + Silent SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 5 168181006 168181006 C G SNP SLIT3 ENST00000519560 human ensembl 69_37n -1 known silent c.1692 p.L564 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp pfam_EGF-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 45 0 0.00 56 10 15.15 - - - SORBS2 0 genome.wustl.edu 37 4 186545551 186545551 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 4 186545551 186545551 C T SNP SORBS2 ENST00000284776 human ensembl 69_37n -1 known silent c.1020 p.Q340 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 41 0 0.00 53 18 25.35 - - - SORBS2 0 genome.wustl.edu 37 4 186545551 186545551 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 4 186545551 186545551 C T SNP SORBS2 ENST00000284776 human ensembl 69_37n -1 known silent c.1020 p.Q340 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 65 0 0.00 53 18 25.35 - - - TACC2 0 genome.wustl.edu 37 10 124008183 124008183 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 10 124008183 124008183 C G SNP TACC2 ENST00000490979 human ensembl 69_37n +1 putative missense c.149 p.S50C 0.986 pfam_TACC pfam_TACC - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TACC2 HGNC ENSG00000138162 71 0 0.00 79 26 24.76 - - - TACC2 0 genome.wustl.edu 37 10 124008183 124008183 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 10 124008183 124008183 C G SNP TACC2 ENST00000490979 human ensembl 69_37n +1 putative missense c.149 p.S50C 0.986 pfam_TACC pfam_TACC - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TACC2 HGNC ENSG00000138162 79 0 0.00 79 26 24.76 - - - TCTEX1D1 0 genome.wustl.edu 37 1 67242962 67242962 + Missense_Mutation SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 67242962 67242962 T C SNP TCTEX1D1 ENST00000282670 human ensembl 69_37n +1 known missense c.365 p.M122T 1.000 pfam_Tctex pfam_Tctex - no_errors TCTEX1D1 HGNC ENSG00000152760 37 0 0.00 64 13 16.88 - - - TCTEX1D1 0 genome.wustl.edu 37 1 67242962 67242962 + Missense_Mutation SNP T T C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 67242962 67242962 T C SNP TCTEX1D1 ENST00000282670 human ensembl 69_37n +1 known missense c.365 p.M122T 1.000 pfam_Tctex pfam_Tctex - no_errors TCTEX1D1 HGNC ENSG00000152760 53 0 0.00 64 13 16.88 - - - THADA 0 genome.wustl.edu 37 2 43793725 43793725 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 2 43793725 43793725 G A SNP THADA ENST00000403856 human ensembl 69_37n -1 putative missense c.2423 p.S808L 0.009 NULL superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 44 0 0.00 71 9 11.25 - - - THADA 0 genome.wustl.edu 37 2 43793725 43793725 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 43793725 43793725 G A SNP THADA ENST00000403856 human ensembl 69_37n -1 putative missense c.2423 p.S808L 0.009 NULL superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 79 0 0.00 71 9 11.25 - - - THEM5 0 genome.wustl.edu 37 1 151819720 151819721 + Frame_Shift_Ins INS - - C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 151819720 151819721 - C INS THEM5 ENST00000453881 human ensembl 69_37n -1 known frame_shift_ins c.659_658 p.S220fs 0.672:0.662 NULL pfam_Thioestr_supf - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region THEM5 HGNC ENSG00000196407 47 0 0.00 58 7 10.77 - - - TMC2 0 genome.wustl.edu 37 20 2591085 2591085 + Silent SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 20 2591085 2591085 G A SNP TMC2 ENST00000358864 human ensembl 69_37n +1 known silent c.1434 p.L478 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 99 0 0.00 181 28 13.40 - - - TMC2 0 genome.wustl.edu 37 20 2591085 2591085 + Silent SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 20 2591085 2591085 G A SNP TMC2 ENST00000358864 human ensembl 69_37n +1 known silent c.1434 p.L478 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 146 0 0.00 181 28 13.40 - - - TMTC4 0 genome.wustl.edu 37 13 101288907 101288907 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 13 101288907 101288907 C T SNP TMTC4 ENST00000342624 human ensembl 69_37n -1 known missense c.1081 p.G361S 1.000 pfam_DUF1736 pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 54 0 0.00 47 21 30.88 - - - TMTC4 0 genome.wustl.edu 37 13 101288907 101288907 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 13 101288907 101288907 C T SNP TMTC4 ENST00000342624 human ensembl 69_37n -1 known missense c.1081 p.G361S 1.000 pfam_DUF1736 pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 54 0 0.00 47 21 30.88 - - - TNR 0 genome.wustl.edu 37 1 175355301 175355301 + Silent SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 175355301 175355301 G T SNP TNR ENST00000263525 human ensembl 69_37n -1 known silent c.1644 p.T548 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 48 0 0.00 69 23 25.00 - - - TNR 0 genome.wustl.edu 37 1 175355301 175355301 + Silent SNP G G T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 175355301 175355301 G T SNP TNR ENST00000263525 human ensembl 69_37n -1 known silent c.1644 p.T548 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 59 0 0.00 69 23 25.00 - - - TP53 0 genome.wustl.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 17 7578479 7578479 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.451 p.P151A 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 38 0 0.00 37 18 32.73 - - - TP53 0 genome.wustl.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 17 7578479 7578479 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.451 p.P151A 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 47 0 0.00 37 18 32.73 - - - UBE3B 0 genome.wustl.edu 37 12 109935652 109935652 + Missense_Mutation SNP A A G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 12 109935652 109935652 A G SNP UBE3B ENST00000342494 human ensembl 69_37n +1 known missense c.743 p.N248S 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 76 0 0.00 88 26 22.81 - - - UBE3B 0 genome.wustl.edu 37 12 109935652 109935652 + Missense_Mutation SNP A A G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 12 109935652 109935652 A G SNP UBE3B ENST00000342494 human ensembl 69_37n +1 known missense c.743 p.N248S 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 65 0 0.00 88 26 22.81 - - - UBXN4 0 genome.wustl.edu 37 2 136513204 136513204 + Missense_Mutation SNP A A C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 2 136513204 136513204 A C SNP UBXN4 ENST00000272638 human ensembl 69_37n +1 known missense c.451 p.N151H 0.010 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 38 0 0.00 64 13 16.88 - - - UBXN4 0 genome.wustl.edu 37 2 136513204 136513204 + Missense_Mutation SNP A A C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 2 136513204 136513204 A C SNP UBXN4 ENST00000272638 human ensembl 69_37n +1 known missense c.451 p.N151H 0.010 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 53 0 0.00 64 13 16.88 - - - URB2 0 genome.wustl.edu 37 1 229781694 229781694 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 1 229781694 229781694 C T SNP URB2 ENST00000258243 human ensembl 69_37n +1 known missense c.3884 p.P1295L 0.999 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 107 0 0.00 97 29 23.02 - - - URB2 0 genome.wustl.edu 37 1 229781694 229781694 + Missense_Mutation SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 1 229781694 229781694 C T SNP URB2 ENST00000258243 human ensembl 69_37n +1 known missense c.3884 p.P1295L 0.999 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 103 0 0.00 97 29 23.02 - - - VCL 0 genome.wustl.edu 37 10 75874588 75874588 + Silent SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 10 75874588 75874588 C G SNP VCL ENST00000211998 human ensembl 69_37n +1 known silent c.3189 p.L1063 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 46 0 0.00 46 11 19.30 - - - VCL 0 genome.wustl.edu 37 10 75874588 75874588 + Silent SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 10 75874588 75874588 C G SNP VCL ENST00000211998 human ensembl 69_37n +1 known silent c.3189 p.L1063 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 74 0 0.00 46 11 19.30 - - - XRRA1 0 genome.wustl.edu 37 11 74556118 74556118 + Nonsense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 11 74556118 74556118 C A SNP XRRA1 ENST00000340360 human ensembl 69_37n -1 known nonsense c.1903 p.G635* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 152 0 0.00 182 47 20.52 - - - XRRA1 0 genome.wustl.edu 37 11 74556118 74556118 + Nonsense_Mutation SNP C C A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 11 74556118 74556118 C A SNP XRRA1 ENST00000340360 human ensembl 69_37n -1 known nonsense c.1903 p.G635* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 164 0 0.00 182 47 20.52 - - - ZDHHC11B 0 genome.wustl.edu 37 5 711333 711333 + RNA SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 5 711333 711333 G C SNP ZDHHC11B ENST00000522356 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 27 0 0.00 43 5 10.42 - - - ZDHHC11B 0 genome.wustl.edu 37 5 711333 711333 + RNA SNP G G C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 5 711333 711333 G C SNP ZDHHC11B ENST00000522356 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 56 0 0.00 43 5 10.42 - - - ZNF192 0 genome.wustl.edu 37 6 28121251 28121251 + Missense_Mutation SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 6 28121251 28121251 G A SNP ZNF192 ENST00000330236 human ensembl 69_37n +1 known missense c.1193 p.R398K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF192 HGNC ENSG00000198315 50 0 0.00 49 7 12.50 - - - ZNF880 0 genome.wustl.edu 37 19 52888048 52888048 + Silent SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 16213e15-1e04-43d3-969a-3c0de008d69e 19 52888048 52888048 G A SNP ZNF880 ENST00000422689 human ensembl 69_37n +1 known silent c.1215 p.E405 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 26 0 0.00 46 6 11.54 - - - ZNF880 0 genome.wustl.edu 37 19 52888048 52888048 + Silent SNP G G A TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-11A-44D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d76ae66f-5c29-4e62-a943-b54b8c2c3dd6 53c7f39c-b4c7-48b6-8e7d-674f3dbb7811 19 52888048 52888048 G A SNP ZNF880 ENST00000422689 human ensembl 69_37n +1 known silent c.1215 p.E405 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 51 0 0.00 46 6 11.54 - - -