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 A1CF 0 genome.wustl.edu 37 10 52595854 52595854 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 52595854 52595854 G A SNP A1CF ENST00000282641 human ensembl 69_37n -1 known missense c.584 p.A195V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 98 0 0.00 43 22 33.85 - - - A1CF 0 genome.wustl.edu 37 10 52595854 52595854 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 52595854 52595854 G A SNP A1CF ENST00000282641 human ensembl 69_37n -1 known missense c.584 p.A195V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 98 0 0.00 63 31 32.98 - - - A2ML1 0 genome.wustl.edu 37 12 9001389 9001389 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 9001389 9001389 C G SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known missense c.1907 p.S636C 0.165 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 89 0 0.00 59 18 23.38 - - - A2ML1 0 genome.wustl.edu 37 12 9001389 9001389 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 9001389 9001389 C G SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known missense c.1907 p.S636C 0.165 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 89 0 0.00 99 27 21.43 - - - ABCA13 0 genome.wustl.edu 37 7 48427518 48427518 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 48427518 48427518 C T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.11435 p.S3812F 0.093 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 246 0 0.00 296 73 19.78 - - - ABCA13 0 genome.wustl.edu 37 7 48427518 48427518 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 48427518 48427518 C T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.11435 p.S3812F 0.093 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 246 0 0.00 423 104 19.73 - - - ABCA2 0 genome.wustl.edu 37 9 139904093 139904093 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 139904093 139904093 C T SNP ABCA2 ENST00000265662 human ensembl 69_37n -1 known missense c.6634 p.E2212K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 59 0 0.00 9 4 30.77 - - - ADAMTS14 0 genome.wustl.edu 37 10 72462167 72462167 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 72462167 72462167 C T SNP ADAMTS14 ENST00000373208 human ensembl 69_37n +1 known missense c.622 p.R208C 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 53 0 0.00 11 3 21.43 - - - ADNP 0 genome.wustl.edu 37 20 49508164 49508164 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 49508164 49508164 C G SNP ADNP ENST00000349014 human ensembl 69_37n -1 known missense c.3087 p.K1029N 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 81 0 0.00 127 15 10.56 - - - ADNP 0 genome.wustl.edu 37 20 49508164 49508164 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 49508164 49508164 C G SNP ADNP ENST00000349014 human ensembl 69_37n -1 known missense c.3087 p.K1029N 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 81 0 0.00 81 10 10.99 - - - ADNP 0 genome.wustl.edu 37 20 49508391 49508391 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 49508391 49508391 C G SNP ADNP ENST00000349014 human ensembl 69_37n -1 known missense c.2860 p.D954H 0.948 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 46 0 0.00 151 20 11.70 - - - ADNP 0 genome.wustl.edu 37 20 49508391 49508391 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 49508391 49508391 C G SNP ADNP ENST00000349014 human ensembl 69_37n -1 known missense c.2860 p.D954H 0.948 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 46 0 0.00 99 12 10.81 - - - ADNP 0 genome.wustl.edu 37 20 49508687 49508687 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 49508687 49508687 C G SNP ADNP ENST00000349014 human ensembl 69_37n -1 known missense c.2564 p.R855T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 118 0 0.00 130 15 10.34 - - - ADNP 0 genome.wustl.edu 37 20 49508687 49508687 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 49508687 49508687 C G SNP ADNP ENST00000349014 human ensembl 69_37n -1 known missense c.2564 p.R855T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 118 0 0.00 204 27 11.69 - - - AFF1 0 genome.wustl.edu 37 4 87968288 87968288 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 87968288 87968288 C T SNP AFF1 ENST00000395146 human ensembl 69_37n +1 known missense c.601 p.P201S 0.002 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 94 0 0.00 42 11 20.75 - - - AFF1 0 genome.wustl.edu 37 4 87968288 87968288 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 87968288 87968288 C T SNP AFF1 ENST00000395146 human ensembl 69_37n +1 known missense c.601 p.P201S 0.002 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 94 0 0.00 73 18 19.78 - - - AFF3 0 genome.wustl.edu 37 2 100625289 100625289 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 100625289 100625289 G T SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known missense c.234 p.F78L 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 268 0 0.00 197 31 13.60 - - - AFF3 0 genome.wustl.edu 37 2 100625289 100625289 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 100625289 100625289 G T SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known missense c.234 p.F78L 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 268 0 0.00 306 51 14.29 - - - AHNAK2 0 genome.wustl.edu 37 14 105409680 105409680 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 105409680 105409680 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.12108 p.L4036 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 172 0 0.00 33 14 29.79 - - - AHNAK2 0 genome.wustl.edu 37 14 105409680 105409680 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 105409680 105409680 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.12108 p.L4036 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 172 0 0.00 54 20 27.03 - - - AHNAK2 0 genome.wustl.edu 37 14 105414690 105414690 + Silent SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 105414690 105414690 G T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.7098 p.L2366 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 143 0 0.00 39 10 20.41 - - - AHNAK2 0 genome.wustl.edu 37 14 105414690 105414690 + Silent SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 105414690 105414690 G T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.7098 p.L2366 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 143 0 0.00 61 12 16.44 - - - AK4 0 genome.wustl.edu 37 1 65656505 65656505 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 65656505 65656505 C T SNP AK4 ENST00000327299 human ensembl 69_37n +1 known silent c.258 p.L86 0.001 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK4 HGNC ENSG00000162433 71 0 0.00 45 16 26.23 - - - AK4 0 genome.wustl.edu 37 1 65656505 65656505 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 65656505 65656505 C T SNP AK4 ENST00000327299 human ensembl 69_37n +1 known silent c.258 p.L86 0.001 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK4 HGNC ENSG00000162433 71 0 0.00 83 30 26.55 - - - AKR1C1 0 genome.wustl.edu 37 10 5014915 5014915 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 5014915 5014915 G A SNP AKR1C1 ENST00000380872 human ensembl 69_37n +1 known missense c.820 p.E274K 0.331 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 202 0 0.00 40 15 27.27 - - - AKR1C1 0 genome.wustl.edu 37 10 5014915 5014915 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 5014915 5014915 G A SNP AKR1C1 ENST00000380872 human ensembl 69_37n +1 known missense c.820 p.E274K 0.331 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 202 0 0.00 65 20 23.53 - - - ANK3 0 genome.wustl.edu 37 10 61815778 61815778 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 61815778 61815778 C G SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.12703 p.D4235H 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 104 0 0.00 151 31 17.03 - - - ANK3 0 genome.wustl.edu 37 10 61815778 61815778 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 61815778 61815778 C G SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.12703 p.D4235H 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 104 0 0.00 232 52 18.31 - - - ANKLE2 0 genome.wustl.edu 37 12 133306539 133306539 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 133306539 133306539 C G SNP ANKLE2 ENST00000357997 human ensembl 69_37n -1 known missense c.2209 p.D737H 1.000 NULL pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ENSG00000176915 82 0 0.00 146 26 15.12 - - - ANKLE2 0 genome.wustl.edu 37 12 133306539 133306539 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 133306539 133306539 C G SNP ANKLE2 ENST00000357997 human ensembl 69_37n -1 known missense c.2209 p.D737H 1.000 NULL pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ENSG00000176915 82 0 0.00 91 15 14.15 - - - AP4M1 0 genome.wustl.edu 37 7 99701112 99701112 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 99701112 99701112 C T SNP AP4M1 ENST00000416938 human ensembl 69_37n +1 known nonsense c.388 p.Q130* 1.000 NULL pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AP4M1 HGNC ENSG00000221838 125 0 0.00 45 15 25.00 - - - AP4M1 0 genome.wustl.edu 37 7 99701112 99701112 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 99701112 99701112 C T SNP AP4M1 ENST00000416938 human ensembl 69_37n +1 known nonsense c.388 p.Q130* 1.000 NULL pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AP4M1 HGNC ENSG00000221838 125 0 0.00 80 22 21.57 - - - APAF1 0 genome.wustl.edu 37 12 99042512 99042512 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 99042512 99042512 C T SNP APAF1 ENST00000551964 human ensembl 69_37n +1 known missense c.247 p.L83F 1.000 pfam_CARD,superfamily_DEATH-like,pirsf_Apoptotic_pept-activating_1,pfscan_CARD pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 94 0 0.00 177 79 30.86 - - - APAF1 0 genome.wustl.edu 37 12 99042512 99042512 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 99042512 99042512 C T SNP APAF1 ENST00000551964 human ensembl 69_37n +1 known missense c.247 p.L83F 1.000 pfam_CARD,superfamily_DEATH-like,pirsf_Apoptotic_pept-activating_1,pfscan_CARD pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 94 0 0.00 280 106 27.46 - - - ARHGAP23 0 genome.wustl.edu 37 17 36623403 36623403 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 36623403 36623403 G A SNP ARHGAP23 ENST00000431231 human ensembl 69_37n +1 known silent c.1479 p.Q493 1.000 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 22 0 0.00 6 4 40.00 - - - ARHGAP23 0 genome.wustl.edu 37 17 36623403 36623403 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 36623403 36623403 G A SNP ARHGAP23 ENST00000431231 human ensembl 69_37n +1 known silent c.1479 p.Q493 1.000 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 22 0 0.00 8 4 33.33 - - - ARHGAP30 0 genome.wustl.edu 37 1 161018228 161018228 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 161018228 161018228 G A SNP ARHGAP30 ENST00000368013 human ensembl 69_37n -1 known silent c.2583 p.L861 0.033 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 125 0 0.00 143 51 26.15 - - - ARHGAP30 0 genome.wustl.edu 37 1 161018228 161018228 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 161018228 161018228 G A SNP ARHGAP30 ENST00000368013 human ensembl 69_37n -1 known silent c.2583 p.L861 0.033 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 125 0 0.00 90 32 26.02 - - - ARHGAP32 0 genome.wustl.edu 37 11 128844843 128844843 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 128844843 128844843 G C SNP ARHGAP32 ENST00000310343 human ensembl 69_37n -1 known missense c.2207 p.S736C 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 53 0 0.00 26 13 33.33 - - - ARHGAP32 0 genome.wustl.edu 37 11 128844843 128844843 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 128844843 128844843 G C SNP ARHGAP32 ENST00000310343 human ensembl 69_37n -1 known missense c.2207 p.S736C 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 53 0 0.00 42 23 35.38 - - - ARMC7 0 genome.wustl.edu 37 17 73106677 73106677 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 73106677 73106677 G A SNP ARMC7 ENST00000245543 human ensembl 69_37n +1 known missense c.211 p.E71K 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC7 HGNC ENSG00000125449 42 0 0.00 16 12 42.86 - - - ARMC7 0 genome.wustl.edu 37 17 73106677 73106677 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 73106677 73106677 G A SNP ARMC7 ENST00000245543 human ensembl 69_37n +1 known missense c.211 p.E71K 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC7 HGNC ENSG00000125449 42 0 0.00 8 4 33.33 - - - ARMCX2 0 genome.wustl.edu 37 X 100911132 100911132 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 100911132 100911132 C T SNP ARMCX2 ENST00000328766 human ensembl 69_37n -1 known silent c.1443 p.L481 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 145 0 0.00 126 26 17.11 - - - ARMCX2 0 genome.wustl.edu 37 X 100911132 100911132 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 100911132 100911132 C T SNP ARMCX2 ENST00000328766 human ensembl 69_37n -1 known silent c.1443 p.L481 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 145 0 0.00 200 46 18.70 - - - ARMCX2 0 genome.wustl.edu 37 X 100911530 100911530 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 100911530 100911530 C G SNP ARMCX2 ENST00000328766 human ensembl 69_37n -1 known missense c.1045 p.E349Q 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 93 0 0.00 42 15 26.32 - - - ARMCX2 0 genome.wustl.edu 37 X 100911530 100911530 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 100911530 100911530 C G SNP ARMCX2 ENST00000328766 human ensembl 69_37n -1 known missense c.1045 p.E349Q 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 93 0 0.00 76 21 21.65 - - - ATAD2B 0 genome.wustl.edu 37 2 24011418 24011418 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 24011418 24011418 G C SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.2740 p.Q914E 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 270 0 0.00 329 40 10.84 - - - ATAD2B 0 genome.wustl.edu 37 2 24011418 24011418 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 24011418 24011418 G C SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.2740 p.Q914E 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 270 0 0.00 488 58 10.62 - - - ATP2B1 0 genome.wustl.edu 37 12 90005123 90005123 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 90005123 90005123 C T SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known silent c.2094 p.Q698 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 121 0 0.00 104 30 22.39 - - - ATP2B1 0 genome.wustl.edu 37 12 90005123 90005123 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 90005123 90005123 C T SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known silent c.2094 p.Q698 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 121 0 0.00 151 63 29.44 - - - BMP2K 0 genome.wustl.edu 37 4 79831828 79831828 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 79831828 79831828 C G SNP BMP2K ENST00000335016 human ensembl 69_37n +1 known missense c.2127 p.I709M 0.004 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMP2K HGNC ENSG00000138756 94 0 0.00 122 27 18.12 - - - BMP2K 0 genome.wustl.edu 37 4 79831828 79831828 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 79831828 79831828 C G SNP BMP2K ENST00000335016 human ensembl 69_37n +1 known missense c.2127 p.I709M 0.004 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMP2K HGNC ENSG00000138756 94 0 0.00 81 15 15.62 - - - BRCC3 0 genome.wustl.edu 37 X 154327650 154327650 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 154327650 154327650 G A SNP BRCC3 ENST00000399042 human ensembl 69_37n +1 known silent c.609 p.Q203 0.999 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC ENSG00000185515 71 0 0.00 45 10 18.18 - - - BRCC3 0 genome.wustl.edu 37 X 154327650 154327650 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 154327650 154327650 G A SNP BRCC3 ENST00000399042 human ensembl 69_37n +1 known silent c.609 p.Q203 0.999 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC ENSG00000185515 71 0 0.00 66 14 17.50 - - - BUB1 0 genome.wustl.edu 37 2 111398712 111398712 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 111398712 111398712 C G SNP BUB1 ENST00000302759 human ensembl 69_37n -1 known missense c.2854 p.D952H 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC ENSG00000169679 80 0 0.00 127 31 19.62 - - - BUB1 0 genome.wustl.edu 37 2 111398712 111398712 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 111398712 111398712 C G SNP BUB1 ENST00000302759 human ensembl 69_37n -1 known missense c.2854 p.D952H 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC ENSG00000169679 80 0 0.00 77 20 20.62 - - - C1QTNF2 0 genome.wustl.edu 37 5 159776212 159776212 + Missense_Mutation SNP A A T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 159776212 159776212 A T SNP C1QTNF2 ENST00000393975 human ensembl 69_37n -1 known missense c.956 p.L319Q 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 71 0 0.00 17 5 22.73 - - - C1QTNF2 0 genome.wustl.edu 37 5 159776212 159776212 + Missense_Mutation SNP A A T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 159776212 159776212 A T SNP C1QTNF2 ENST00000393975 human ensembl 69_37n -1 known missense c.956 p.L319Q 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 71 0 0.00 30 6 16.67 - - - C20orf111 0 genome.wustl.edu 37 20 42835595 42835595 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 42835595 42835595 C G SNP C20orf111 ENST00000255174 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 pfam_DUF776 pfam_DUF776 - no_errors C20orf111 HGNC ENSG00000132823 139 0 0.00 217 69 24.13 - - - C20orf111 0 genome.wustl.edu 37 20 42835595 42835595 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 42835595 42835595 C G SNP C20orf111 ENST00000255174 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 pfam_DUF776 pfam_DUF776 - no_errors C20orf111 HGNC ENSG00000132823 139 0 0.00 352 115 24.63 - - - C22orf28 0 genome.wustl.edu 37 22 32788229 32788229 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 22 32788229 32788229 C G SNP C22orf28 ENST00000216038 human ensembl 69_37n -1 known missense c.1408 p.E470Q 1.000 pfam_RtcB_family,superfamily_RtcB_family pfam_RtcB_family,superfamily_RtcB_family - no_errors C22orf28 HGNC ENSG00000100220 79 0 0.00 49 14 22.22 - - - C22orf28 0 genome.wustl.edu 37 22 32788229 32788229 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 22 32788229 32788229 C G SNP C22orf28 ENST00000216038 human ensembl 69_37n -1 known missense c.1408 p.E470Q 1.000 pfam_RtcB_family,superfamily_RtcB_family pfam_RtcB_family,superfamily_RtcB_family - no_errors C22orf28 HGNC ENSG00000100220 79 0 0.00 76 27 26.21 - - - C3orf33 0 genome.wustl.edu 37 3 155493550 155493550 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 155493550 155493550 C G SNP C3orf33 ENST00000340171 human ensembl 69_37n -1 known missense c.262 p.E88Q 0.805 superfamily_Staphylococal_nuclease_OB-fold superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 100 0 0.00 200 46 18.70 - - - C3orf33 0 genome.wustl.edu 37 3 155493550 155493550 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 155493550 155493550 C G SNP C3orf33 ENST00000340171 human ensembl 69_37n -1 known missense c.262 p.E88Q 0.805 superfamily_Staphylococal_nuclease_OB-fold superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 100 0 0.00 306 75 19.69 - - - CACNA1E 0 genome.wustl.edu 37 1 181767970 181767970 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 181767970 181767970 G A SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known silent c.6942 p.*2314 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 32 0 0.00 14 4 22.22 - - - CACNA1E 0 genome.wustl.edu 37 1 181767970 181767970 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 181767970 181767970 G A SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known silent c.6942 p.*2314 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 32 0 0.00 21 4 16.00 - - - CACNA1S 0 genome.wustl.edu 37 1 201030419 201030419 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 201030419 201030419 C T SNP CACNA1S ENST00000362061 human ensembl 69_37n -1 known silent c.3231 p.K1077 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 122 0 0.00 125 24 16.11 - - - CACNA1S 0 genome.wustl.edu 37 1 201030419 201030419 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 201030419 201030419 C T SNP CACNA1S ENST00000362061 human ensembl 69_37n -1 known silent c.3231 p.K1077 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 122 0 0.00 189 44 18.88 - - - CATSPER2 0 genome.wustl.edu 37 15 43940233 43940233 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 15 43940233 43940233 C T SNP CATSPER2 ENST00000299989 human ensembl 69_37n -1 known silent c.27 p.Q9 0.010 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 125 0 0.00 18 9 33.33 - - - CATSPER2 0 genome.wustl.edu 37 15 43940233 43940233 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 15 43940233 43940233 C T SNP CATSPER2 ENST00000299989 human ensembl 69_37n -1 known silent c.27 p.Q9 0.010 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 125 0 0.00 38 19 33.33 - - - CCNB3 0 genome.wustl.edu 37 X 50052923 50052923 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 50052923 50052923 C T SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known missense c.1754 p.S585L 0.001 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 79 0 0.00 48 8 14.29 - - - CCNB3 0 genome.wustl.edu 37 X 50052923 50052923 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 50052923 50052923 C T SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known missense c.1754 p.S585L 0.001 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 79 0 0.00 77 16 17.20 - - - CDCA4 0 genome.wustl.edu 37 14 105478091 105478091 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 105478091 105478091 G A SNP CDCA4 ENST00000336219 human ensembl 69_37n -1 known missense c.176 p.S59L 0.990 pfam_SERTA,pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 26 0 0.00 7 3 30.00 - - - CDH1 0 genome.wustl.edu 37 16 68844099 68844099 + Splice_Site SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 68844099 68844099 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known splice_site c.688-1 e6-1 1.000 - - - no_errors CDH1 HGNC ENSG00000039068 75 0 0.00 24 19 44.19 - - - CDH1 0 genome.wustl.edu 37 16 68844099 68844099 + Splice_Site SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 68844099 68844099 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known splice_site c.688-1 e6-1 1.000 - - - no_errors CDH1 HGNC ENSG00000039068 75 0 0.00 36 29 44.62 - - - CDHR3 0 genome.wustl.edu 37 7 105662855 105662855 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 105662855 105662855 C T SNP CDHR3 ENST00000468477 human ensembl 69_37n +1 novel missense c.443 p.S148L 0.998 superfamily_Cadherin-like,pfscan_Cadherin superfamily_Cadherin-like,pfscan_Cadherin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CDHR3 HGNC ENSG00000128536 103 0 0.00 146 50 25.38 - - - CDHR3 0 genome.wustl.edu 37 7 105662855 105662855 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 105662855 105662855 C T SNP CDHR3 ENST00000468477 human ensembl 69_37n +1 novel missense c.443 p.S148L 0.998 superfamily_Cadherin-like,pfscan_Cadherin superfamily_Cadherin-like,pfscan_Cadherin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CDHR3 HGNC ENSG00000128536 103 0 0.00 93 32 25.40 - - - CDON 0 genome.wustl.edu 37 11 125871671 125871671 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 125871671 125871671 C G SNP CDON ENST00000392693 human ensembl 69_37n -1 known missense c.2101 p.E701Q 0.965 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC ENSG00000064309 326 0 0.00 108 23 17.56 - - - CDON 0 genome.wustl.edu 37 11 125871671 125871671 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 125871671 125871671 C G SNP CDON ENST00000392693 human ensembl 69_37n -1 known missense c.2101 p.E701Q 0.965 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC ENSG00000064309 326 0 0.00 159 37 18.88 - - - CENPN 0 genome.wustl.edu 37 16 81062223 81062223 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 81062223 81062223 G C SNP CENPN ENST00000428963 human ensembl 69_37n +1 putative missense c.885 p.K295N 0.615 pfam_CHL4 pfam_CHL4 - no_errors CENPN HGNC ENSG00000166451 78 0 0.00 115 35 23.33 - - - CENPN 0 genome.wustl.edu 37 16 81062223 81062223 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 81062223 81062223 G C SNP CENPN ENST00000428963 human ensembl 69_37n +1 putative missense c.885 p.K295N 0.615 pfam_CHL4 pfam_CHL4 - no_errors CENPN HGNC ENSG00000166451 78 0 0.00 66 23 25.84 - - - CFH 0 genome.wustl.edu 37 1 196695948 196695948 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 196695948 196695948 C T SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.2114 p.S705F 0.256 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 127 0 0.00 127 24 15.89 - - - CFH 0 genome.wustl.edu 37 1 196695948 196695948 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 196695948 196695948 C T SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.2114 p.S705F 0.256 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 127 0 0.00 210 38 15.32 - - - CHD1L 0 genome.wustl.edu 37 1 146759364 146759364 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 146759364 146759364 C T SNP CHD1L ENST00000369258 human ensembl 69_37n +1 known nonsense c.2272 p.R758* 0.948 pfscan_A1pp pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 124 1 0.80 183 41 18.30 - - - CHD1L 0 genome.wustl.edu 37 1 146759364 146759364 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 146759364 146759364 C T SNP CHD1L ENST00000369258 human ensembl 69_37n +1 known nonsense c.2272 p.R758* 0.948 pfscan_A1pp pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 124 1 0.80 296 68 18.68 - - - CHD5 0 genome.wustl.edu 37 1 6215763 6215763 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 6215763 6215763 C T SNP CHD5 ENST00000262450 human ensembl 69_37n -1 known silent c.402 p.S134 0.414 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 83 0 0.00 17 4 19.05 - - - CHRNA9 0 genome.wustl.edu 37 4 40351124 40351124 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 40351124 40351124 C T SNP CHRNA9 ENST00000310169 human ensembl 69_37n +1 known silent c.591 p.F197 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 140 0 0.00 57 19 25.00 - - - CHRNA9 0 genome.wustl.edu 37 4 40351124 40351124 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 40351124 40351124 C T SNP CHRNA9 ENST00000310169 human ensembl 69_37n +1 known silent c.591 p.F197 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 140 0 0.00 76 30 28.30 - - - CNNM2 0 genome.wustl.edu 37 10 104836880 104836880 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 104836880 104836880 G A SNP CNNM2 ENST00000457502 human ensembl 69_37n +1 known silent c.2574 p.Q858 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 59 0 0.00 23 9 28.12 - - - CNNM2 0 genome.wustl.edu 37 10 104836880 104836880 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 104836880 104836880 G A SNP CNNM2 ENST00000457502 human ensembl 69_37n +1 known silent c.2574 p.Q858 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 59 0 0.00 40 10 20.00 - - - CREB3L1 0 genome.wustl.edu 37 11 46334219 46334219 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 46334219 46334219 G C SNP CREB3L1 ENST00000288400 human ensembl 69_37n +1 known missense c.960 p.K320N 1.000 pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 84 0 0.00 35 4 10.26 - - - CREB3L1 0 genome.wustl.edu 37 11 46334219 46334219 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 46334219 46334219 G C SNP CREB3L1 ENST00000288400 human ensembl 69_37n +1 known missense c.960 p.K320N 1.000 pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 84 0 0.00 46 8 14.81 - - - CSF2RB 0 genome.wustl.edu 37 22 37334464 37334464 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 22 37334464 37334464 C A SNP CSF2RB ENST00000262825 human ensembl 69_37n +1 known missense c.2632 p.Q878K 0.998 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 61 0 0.00 16 8 33.33 - - - CSF2RB 0 genome.wustl.edu 37 22 37334464 37334464 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 22 37334464 37334464 C A SNP CSF2RB ENST00000262825 human ensembl 69_37n +1 known missense c.2632 p.Q878K 0.998 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 61 0 0.00 7 5 41.67 - - - CSTF3 0 genome.wustl.edu 37 11 33107491 33107491 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 33107491 33107491 G A SNP CSTF3 ENST00000323959 human ensembl 69_37n -1 known missense c.1840 p.P614S 1.000 pfam_Suf pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 164 0 0.00 145 46 24.08 - - - CSTF3 0 genome.wustl.edu 37 11 33107491 33107491 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 33107491 33107491 G A SNP CSTF3 ENST00000323959 human ensembl 69_37n -1 known missense c.1840 p.P614S 1.000 pfam_Suf pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 164 0 0.00 86 31 26.50 - - - CTDSPL 0 genome.wustl.edu 37 3 38006086 38006086 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 38006086 38006086 G A SNP CTDSPL ENST00000273179 human ensembl 69_37n +1 known missense c.292 p.E98K 1.000 superfamily_HAD-like_dom pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL HGNC ENSG00000144677 146 0 0.00 127 39 23.49 - - - CTDSPL 0 genome.wustl.edu 37 3 38006086 38006086 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 38006086 38006086 G A SNP CTDSPL ENST00000273179 human ensembl 69_37n +1 known missense c.292 p.E98K 1.000 superfamily_HAD-like_dom pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL HGNC ENSG00000144677 146 0 0.00 208 61 22.68 - - - CYP2C18 0 genome.wustl.edu 37 10 96447986 96447986 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 96447986 96447986 C T SNP CYP2C18 ENST00000285979 human ensembl 69_37n +1 known nonsense c.436 p.Q146* 0.118 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 281 0 0.00 226 29 11.37 - - - CYP2C18 0 genome.wustl.edu 37 10 96447986 96447986 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 96447986 96447986 C T SNP CYP2C18 ENST00000285979 human ensembl 69_37n +1 known nonsense c.436 p.Q146* 0.118 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 281 0 0.00 335 48 12.53 - - - CYP4B1 0 genome.wustl.edu 37 1 47283813 47283813 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 47283813 47283813 C T SNP CYP4B1 ENST00000371923 human ensembl 69_37n +1 known missense c.1283 p.S428F 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 139 0 0.00 116 43 27.04 - - - CYP4B1 0 genome.wustl.edu 37 1 47283813 47283813 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 47283813 47283813 C T SNP CYP4B1 ENST00000371923 human ensembl 69_37n +1 known missense c.1283 p.S428F 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 139 0 0.00 77 24 23.76 - - - DDX11 0 genome.wustl.edu 37 12 31249282 31249282 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 31249282 31249282 G A SNP DDX11 ENST00000407793 human ensembl 69_37n +1 known missense c.1490 p.R497Q 0.999 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 211 0 0.00 120 24 16.67 - - - DDX11 0 genome.wustl.edu 37 12 31249282 31249282 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 31249282 31249282 G A SNP DDX11 ENST00000407793 human ensembl 69_37n +1 known missense c.1490 p.R497Q 0.999 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 211 0 0.00 176 37 17.37 - - - DMXL1 0 genome.wustl.edu 37 5 118468832 118468832 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 118468832 118468832 G A SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known missense c.1321 p.D441N 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 87 0 0.00 127 37 22.56 - - - DMXL1 0 genome.wustl.edu 37 5 118468832 118468832 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 118468832 118468832 G A SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known missense c.1321 p.D441N 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 87 0 0.00 81 26 24.30 - - - DNAH3 0 genome.wustl.edu 37 16 20975814 20975814 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 20975814 20975814 C G SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.9392 p.G3131A 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 105 0 0.00 132 44 25.00 - - - DNAH3 0 genome.wustl.edu 37 16 20975814 20975814 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 20975814 20975814 C G SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.9392 p.G3131A 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 105 0 0.00 92 25 21.37 - - - DNAJC11 0 genome.wustl.edu 37 1 6727831 6727831 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 6727831 6727831 C G SNP DNAJC11 ENST00000377577 human ensembl 69_37n -1 known missense c.316 p.E106Q 1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC ENSG00000007923 65 0 0.00 59 13 18.06 - - - DNAJC11 0 genome.wustl.edu 37 1 6727831 6727831 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 6727831 6727831 C G SNP DNAJC11 ENST00000377577 human ensembl 69_37n -1 known missense c.316 p.E106Q 1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC ENSG00000007923 65 0 0.00 82 22 21.15 - - - DNAJC6 0 genome.wustl.edu 37 1 65878608 65878608 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 65878608 65878608 C G SNP DNAJC6 ENST00000371069 human ensembl 69_37n +1 known missense c.2813 p.A938G 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 167 0 0.00 220 50 18.52 - - - DNAJC6 0 genome.wustl.edu 37 1 65878608 65878608 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 65878608 65878608 C G SNP DNAJC6 ENST00000371069 human ensembl 69_37n +1 known missense c.2813 p.A938G 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 167 0 0.00 337 83 19.76 - - - DNPEP 0 genome.wustl.edu 37 2 220251466 220251466 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 220251466 220251466 G T SNP DNPEP ENST00000273075 human ensembl 69_37n -1 known missense c.254 p.A85D 1.000 pfam_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 107 0 0.00 20 9 31.03 - - - DNPEP 0 genome.wustl.edu 37 2 220251466 220251466 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 220251466 220251466 G T SNP DNPEP ENST00000273075 human ensembl 69_37n -1 known missense c.254 p.A85D 1.000 pfam_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 107 0 0.00 33 17 34.00 - - - DROSHA 0 genome.wustl.edu 37 5 31401613 31401613 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 31401613 31401613 C G SNP DROSHA ENST00000344624 human ensembl 69_37n -1 known missense c.4051 p.E1351Q 1.000 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 145 0 0.00 274 52 15.95 - - - DROSHA 0 genome.wustl.edu 37 5 31401613 31401613 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 31401613 31401613 C G SNP DROSHA ENST00000344624 human ensembl 69_37n -1 known missense c.4051 p.E1351Q 1.000 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 145 0 0.00 416 79 15.96 - - - DSPP 0 genome.wustl.edu 37 4 88537602 88537602 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 88537602 88537602 C T SNP DSPP ENST00000282478 human ensembl 69_37n +1 known missense c.3788 p.S1263F 0.993 NULL NULL - no_errors DSPP HGNC ENSG00000152591 232 0 0.00 117 35 23.03 - - - DSPP 0 genome.wustl.edu 37 4 88537602 88537602 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 88537602 88537602 C T SNP DSPP ENST00000282478 human ensembl 69_37n +1 known missense c.3788 p.S1263F 0.993 NULL NULL - no_errors DSPP HGNC ENSG00000152591 232 0 0.00 76 29 27.62 - - - DSTYK 0 genome.wustl.edu 37 1 205130512 205130512 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 205130512 205130512 C T SNP DSTYK ENST00000367162 human ensembl 69_37n -1 known missense c.1822 p.E608K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DSTYK HGNC ENSG00000133059 79 0 0.00 35 9 20.45 - - - DSTYK 0 genome.wustl.edu 37 1 205130512 205130512 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 205130512 205130512 C T SNP DSTYK ENST00000367162 human ensembl 69_37n -1 known missense c.1822 p.E608K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DSTYK HGNC ENSG00000133059 79 0 0.00 56 15 21.13 - - - DYRK1A 0 genome.wustl.edu 37 21 38845021 38845021 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 21 38845021 38845021 C T SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known missense c.46 p.R16W 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 93 0 0.00 46 17 26.98 - - - DYRK1A 0 genome.wustl.edu 37 21 38845021 38845021 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 21 38845021 38845021 C T SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known missense c.46 p.R16W 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 93 0 0.00 66 29 30.53 - - - DYRK1A 0 genome.wustl.edu 37 21 38853104 38853104 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 21 38853104 38853104 G C SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known missense c.492 p.L164F 0.982 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 150 0 0.00 169 27 13.78 - - - DYRK1A 0 genome.wustl.edu 37 21 38853104 38853104 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 21 38853104 38853104 G C SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known missense c.492 p.L164F 0.982 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 150 0 0.00 99 16 13.91 - - - EDDM3A 0 genome.wustl.edu 37 14 21216085 21216085 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 21216085 21216085 G A SNP EDDM3A ENST00000326842 human ensembl 69_37n +1 known missense c.346 p.E116K 0.001 superfamily_RNaseA_domain superfamily_RNaseA_domain - no_errors EDDM3A HGNC ENSG00000181562 106 0 0.00 101 19 15.83 - - - EDDM3A 0 genome.wustl.edu 37 14 21216085 21216085 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 21216085 21216085 G A SNP EDDM3A ENST00000326842 human ensembl 69_37n +1 known missense c.346 p.E116K 0.001 superfamily_RNaseA_domain superfamily_RNaseA_domain - no_errors EDDM3A HGNC ENSG00000181562 106 0 0.00 64 13 16.88 - - - EFTUD1P1 0 genome.wustl.edu 37 15 84782452 84782452 + RNA SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 15 84782452 84782452 G T SNP EFTUD1P1 ENST00000560381 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 122 0 0.00 141 60 29.85 - - - EFTUD1P1 0 genome.wustl.edu 37 15 84782452 84782452 + RNA SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 15 84782452 84782452 G T SNP EFTUD1P1 ENST00000560381 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 122 0 0.00 82 41 33.33 - - - EIF2D 0 genome.wustl.edu 37 1 206776375 206776375 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 206776375 206776375 G C SNP EIF2D ENST00000271764 human ensembl 69_37n -1 known silent c.714 p.L238 0.000 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 201 0 0.00 191 40 17.32 - - - EIF2D 0 genome.wustl.edu 37 1 206776375 206776375 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 206776375 206776375 G C SNP EIF2D ENST00000271764 human ensembl 69_37n -1 known silent c.714 p.L238 0.000 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 201 0 0.00 295 55 15.71 - - - EIF2S2 0 genome.wustl.edu 37 20 32685285 32685285 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 32685285 32685285 G C SNP EIF2S2 ENST00000374980 human ensembl 69_37n -1 known missense c.471 p.I157M 1.000 NULL pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000125977 139 0 0.00 128 46 26.44 - - - EIF2S2 0 genome.wustl.edu 37 20 32685285 32685285 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 32685285 32685285 G C SNP EIF2S2 ENST00000374980 human ensembl 69_37n -1 known missense c.471 p.I157M 1.000 NULL pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000125977 139 0 0.00 191 67 25.87 - - - EML2 0 genome.wustl.edu 37 19 46116900 46116900 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 46116900 46116900 C G SNP EML2 ENST00000587152 human ensembl 69_37n -1 known missense c.2326 p.D776H 0.991 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 111 0 0.00 24 21 46.67 - - - EML2 0 genome.wustl.edu 37 19 46116900 46116900 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 46116900 46116900 C G SNP EML2 ENST00000587152 human ensembl 69_37n -1 known missense c.2326 p.D776H 0.991 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 111 0 0.00 42 26 38.24 - - - ENAH 0 genome.wustl.edu 37 1 225742783 225742783 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 225742783 225742783 G A SNP ENAH ENST00000366844 human ensembl 69_37n -1 known silent c.174 p.V58 0.925 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 95 0 0.00 100 21 17.36 - - - ENAH 0 genome.wustl.edu 37 1 225742783 225742783 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 225742783 225742783 G A SNP ENAH ENST00000366844 human ensembl 69_37n -1 known silent c.174 p.V58 0.925 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 95 0 0.00 158 36 18.56 - - - ENPP2 0 genome.wustl.edu 37 8 120598503 120598503 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 120598503 120598503 G C SNP ENPP2 ENST00000259486 human ensembl 69_37n -1 known silent c.1446 p.P482 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 217 0 0.00 169 44 20.66 - - - ENPP2 0 genome.wustl.edu 37 8 120598503 120598503 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 120598503 120598503 G C SNP ENPP2 ENST00000259486 human ensembl 69_37n -1 known silent c.1446 p.P482 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 217 0 0.00 275 74 21.20 - - - ENSG00000232637 0 genome.wustl.edu 37 1 146244578 146244578 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 146244578 146244578 G A SNP ENSG00000232637 ENST00000491285 human ensembl 69_37n -1 novel missense c.1238 p.S413L 0.001 NULL pfam_NBPF_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WI2-3658N16.1 Clone_based_vega_gene ENSG00000232637 17 0 0.00 7 4 36.36 - - - ERBB4 0 genome.wustl.edu 37 2 212285277 212285277 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 212285277 212285277 C T SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known silent c.3024 p.L1008 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 123 0 0.00 145 51 26.02 - - - ERBB4 0 genome.wustl.edu 37 2 212285277 212285277 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 212285277 212285277 C T SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known silent c.3024 p.L1008 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 123 0 0.00 82 29 26.13 - - - ERN2 0 genome.wustl.edu 37 16 23702689 23702689 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 23702689 23702689 C T SNP ERN2 ENST00000562458 human ensembl 69_37n -1 putative nonsense c.219 p.W73* 1.000 pfam_KEN_RNase_activator,superfamily_Kinase-like_dom pfam_KEN_RNase_activator,superfamily_Kinase-like_dom,smart_PUG-dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERN2 HGNC ENSG00000134398 61 0 0.00 16 5 23.81 - - - ERN2 0 genome.wustl.edu 37 16 23702689 23702689 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 23702689 23702689 C T SNP ERN2 ENST00000562458 human ensembl 69_37n -1 putative nonsense c.219 p.W73* 1.000 pfam_KEN_RNase_activator,superfamily_Kinase-like_dom pfam_KEN_RNase_activator,superfamily_Kinase-like_dom,smart_PUG-dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERN2 HGNC ENSG00000134398 61 0 0.00 19 8 29.63 - - - ESPN 0 genome.wustl.edu 37 1 6504709 6504709 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 6504709 6504709 C A SNP ESPN ENST00000377828 human ensembl 69_37n +1 known missense c.1159 p.H387N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 64 0 0.00 18 5 21.74 - - - ESPN 0 genome.wustl.edu 37 1 6504709 6504709 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 6504709 6504709 C A SNP ESPN ENST00000377828 human ensembl 69_37n +1 known missense c.1159 p.H387N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 64 0 0.00 31 7 18.42 - - - EVI5L 0 genome.wustl.edu 37 19 7918195 7918195 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 7918195 7918195 G A SNP EVI5L ENST00000538904 human ensembl 69_37n +1 known silent c.1122 p.E374 0.997 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 67 0 0.00 13 6 31.58 - - - EVI5L 0 genome.wustl.edu 37 19 7918195 7918195 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 7918195 7918195 G A SNP EVI5L ENST00000538904 human ensembl 69_37n +1 known silent c.1122 p.E374 0.997 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 67 0 0.00 19 9 32.14 - - - EXOC5 0 genome.wustl.edu 37 14 57696455 57696455 + Silent SNP A A G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 57696455 57696455 A G SNP EXOC5 ENST00000413566 human ensembl 69_37n -1 known silent c.1293 p.H431 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 132 0 0.00 140 38 21.35 - - - EXOC5 0 genome.wustl.edu 37 14 57696455 57696455 + Silent SNP A A G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 57696455 57696455 A G SNP EXOC5 ENST00000413566 human ensembl 69_37n -1 known silent c.1293 p.H431 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 132 0 0.00 85 19 18.27 - - - FAM126B 0 genome.wustl.edu 37 2 201887608 201887608 + Silent SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 201887608 201887608 C G SNP FAM126B ENST00000418596 human ensembl 69_37n -1 known silent c.99 p.R33 1.000 pfam_Hyccin pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 113 0 0.00 211 70 24.91 - - - FAM126B 0 genome.wustl.edu 37 2 201887608 201887608 + Silent SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 201887608 201887608 C G SNP FAM126B ENST00000418596 human ensembl 69_37n -1 known silent c.99 p.R33 1.000 pfam_Hyccin pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 113 0 0.00 338 119 26.04 - - - FAM160B2 0 genome.wustl.edu 37 8 21957402 21957402 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 21957402 21957402 G A SNP FAM160B2 ENST00000289921 human ensembl 69_37n +1 known missense c.1339 p.E447K 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 37 0 0.00 15 3 16.67 - - - FBXO21 0 genome.wustl.edu 37 12 117583909 117583909 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 117583909 117583909 C T SNP FBXO21 ENST00000330622 human ensembl 69_37n -1 known missense c.1870 p.E624K 0.995 NULL pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 137 0 0.00 158 45 22.17 - - - FBXO21 0 genome.wustl.edu 37 12 117583909 117583909 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 117583909 117583909 C T SNP FBXO21 ENST00000330622 human ensembl 69_37n -1 known missense c.1870 p.E624K 0.995 NULL pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 137 0 0.00 234 69 22.77 - - - FMO1 0 genome.wustl.edu 37 1 171251126 171251126 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 171251126 171251126 G A SNP FMO1 ENST00000354841 human ensembl 69_37n +1 known silent c.837 p.L279 0.005 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 44 0 0.00 108 18 14.29 - - - FMO1 0 genome.wustl.edu 37 1 171251126 171251126 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 171251126 171251126 G A SNP FMO1 ENST00000354841 human ensembl 69_37n +1 known silent c.837 p.L279 0.005 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 44 0 0.00 72 12 14.29 - - - FOPNL 0 genome.wustl.edu 37 16 15973705 15973705 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 15973705 15973705 G C SNP FOPNL ENST00000572415 human ensembl 69_37n -1 known missense c.367 p.H123D 1.000 NULL NULL - no_errors FOPNL HGNC ENSG00000133393 101 0 0.00 103 20 16.13 - - - FOPNL 0 genome.wustl.edu 37 16 15973705 15973705 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 15973705 15973705 G C SNP FOPNL ENST00000572415 human ensembl 69_37n -1 known missense c.367 p.H123D 1.000 NULL NULL - no_errors FOPNL HGNC ENSG00000133393 101 0 0.00 148 41 21.58 - - - FRMD4A 0 genome.wustl.edu 37 10 13838563 13838563 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 13838563 13838563 C A SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known missense c.232 p.D78Y 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 147 0 0.00 126 41 24.55 - - - FRMD4A 0 genome.wustl.edu 37 10 13838563 13838563 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 13838563 13838563 C A SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known missense c.232 p.D78Y 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 147 0 0.00 212 60 22.06 - - - FRRS1 0 genome.wustl.edu 37 1 100174482 100174482 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 100174482 100174482 G A SNP FRRS1 ENST00000287474 human ensembl 69_37n -1 known missense c.1853 p.S618L 0.000 NULL pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 78 0 0.00 56 19 25.33 - - - FRRS1 0 genome.wustl.edu 37 1 100174482 100174482 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 100174482 100174482 G A SNP FRRS1 ENST00000287474 human ensembl 69_37n -1 known missense c.1853 p.S618L 0.000 NULL pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 78 0 0.00 91 33 26.61 - - - GATA3 0 genome.wustl.edu 37 10 8106058 8106058 + Missense_Mutation SNP T T A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 8106058 8106058 T A SNP GATA3 ENST00000379328 human ensembl 69_37n +1 known missense c.881 p.M294K 1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 116 0 0.00 57 19 25.00 - - - GATA3 0 genome.wustl.edu 37 10 8106058 8106058 + Missense_Mutation SNP T T A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 8106058 8106058 T A SNP GATA3 ENST00000379328 human ensembl 69_37n +1 known missense c.881 p.M294K 1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 116 0 0.00 85 29 25.44 - - - GDPD2 0 genome.wustl.edu 37 X 69652507 69652507 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 69652507 69652507 C T SNP GDPD2 ENST00000453994 human ensembl 69_37n +1 known nonsense c.1687 p.Q563* 0.022 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 205 1 0.49 172 64 27.12 - - - GDPD2 0 genome.wustl.edu 37 X 69652507 69652507 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 69652507 69652507 C T SNP GDPD2 ENST00000453994 human ensembl 69_37n +1 known nonsense c.1687 p.Q563* 0.022 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 205 1 0.49 284 100 26.04 - - - GLB1 0 genome.wustl.edu 37 3 33059951 33059951 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 33059951 33059951 C G SNP GLB1 ENST00000445488 human ensembl 69_37n -1 known missense c.1480 p.A494P 0.056 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 113 0 0.00 51 24 32.00 - - - GLB1 0 genome.wustl.edu 37 3 33059951 33059951 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 33059951 33059951 C G SNP GLB1 ENST00000445488 human ensembl 69_37n -1 known missense c.1480 p.A494P 0.056 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 113 0 0.00 83 36 30.25 - - - GLT25D1 0 genome.wustl.edu 37 19 17690311 17690311 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 17690311 17690311 G C SNP GLT25D1 ENST00000252599 human ensembl 69_37n +1 known missense c.1287 p.Q429H 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC ENSG00000130309 101 0 0.00 47 11 18.97 - - - GLT25D1 0 genome.wustl.edu 37 19 17690311 17690311 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 17690311 17690311 G C SNP GLT25D1 ENST00000252599 human ensembl 69_37n +1 known missense c.1287 p.Q429H 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC ENSG00000130309 101 0 0.00 72 17 19.10 - - - GOLGA4 0 genome.wustl.edu 37 3 37369998 37369998 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 37369998 37369998 G A SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known missense c.6031 p.E2011K 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 135 0 0.00 150 40 21.05 - - - GOLGA4 0 genome.wustl.edu 37 3 37369998 37369998 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 37369998 37369998 G A SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known missense c.6031 p.E2011K 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 135 0 0.00 87 25 22.32 - - - GRIK2 0 genome.wustl.edu 37 6 102124653 102124653 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 102124653 102124653 G A SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.697 p.E233K 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 121 0 0.00 121 31 20.39 - - - GRIK2 0 genome.wustl.edu 37 6 102124653 102124653 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 102124653 102124653 G A SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.697 p.E233K 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 121 0 0.00 182 49 21.21 - - - HAAO 0 genome.wustl.edu 37 2 42997320 42997320 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 42997320 42997320 G A SNP HAAO ENST00000294973 human ensembl 69_37n -1 known silent c.447 p.F149 1.000 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC ENSG00000162882 104 0 0.00 24 6 20.00 - - - HAAO 0 genome.wustl.edu 37 2 42997320 42997320 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 42997320 42997320 G A SNP HAAO ENST00000294973 human ensembl 69_37n -1 known silent c.447 p.F149 1.000 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC ENSG00000162882 104 0 0.00 38 7 15.56 - - - HCAR1 0 genome.wustl.edu 37 12 123214164 123214164 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 123214164 123214164 G A SNP HCAR1 ENST00000356987 human ensembl 69_37n -1 known silent c.723 p.L241 0.139 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors HCAR1 HGNC ENSG00000196917 86 0 0.00 41 13 24.07 - - - HCAR1 0 genome.wustl.edu 37 12 123214164 123214164 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 123214164 123214164 G A SNP HCAR1 ENST00000356987 human ensembl 69_37n -1 known silent c.723 p.L241 0.139 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors HCAR1 HGNC ENSG00000196917 86 0 0.00 57 19 25.00 - - - HEATR8 0 genome.wustl.edu 37 1 55118580 55118580 + RNA SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 55118580 55118580 G A SNP HEATR8 ENST00000472987 human ensembl 69_37n +1 known rna NULL NULL 0.844 - - - no_errors HEATR8 HGNC ENSG00000184313 37 0 0.00 13 4 23.53 - - - HMCN1 0 genome.wustl.edu 37 1 186014856 186014856 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 186014856 186014856 C T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.6341 p.S2114F 0.999 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 204 0 0.00 147 35 19.23 - - - HMCN1 0 genome.wustl.edu 37 1 186014856 186014856 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 186014856 186014856 C T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.6341 p.S2114F 0.999 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 204 0 0.00 217 52 19.33 - - - HNRNPA2B1 0 genome.wustl.edu 37 7 26237271 26237271 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 26237271 26237271 C G SNP HNRNPA2B1 ENST00000354667 human ensembl 69_37n -1 known missense c.124 p.E42Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 182 0 0.00 250 46 15.54 - - - HNRNPA2B1 0 genome.wustl.edu 37 7 26237271 26237271 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 26237271 26237271 C G SNP HNRNPA2B1 ENST00000354667 human ensembl 69_37n -1 known missense c.124 p.E42Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 182 0 0.00 397 73 15.53 - - - HS3ST4 0 genome.wustl.edu 37 16 26147248 26147248 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 26147248 26147248 C T SNP HS3ST4 ENST00000331351 human ensembl 69_37n +1 known silent c.1050 p.S350 0.937 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST4 HGNC ENSG00000182601 91 0 0.00 45 12 21.05 - - - HS3ST4 0 genome.wustl.edu 37 16 26147248 26147248 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 26147248 26147248 C T SNP HS3ST4 ENST00000331351 human ensembl 69_37n +1 known silent c.1050 p.S350 0.937 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST4 HGNC ENSG00000182601 91 0 0.00 69 14 16.87 - - - HSPB7 0 genome.wustl.edu 37 1 16342076 16342076 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 16342076 16342076 C T SNP HSPB7 ENST00000487046 human ensembl 69_37n -1 known silent c.527 p.*176 1.000 NULL pfam_Hsp20,superfamily_HSP20-like_chaperone,pfscan_Hsp20,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 107 0 0.00 12 4 25.00 - - - HSPB7 0 genome.wustl.edu 37 1 16342076 16342076 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 16342076 16342076 C T SNP HSPB7 ENST00000487046 human ensembl 69_37n -1 known silent c.527 p.*176 1.000 NULL pfam_Hsp20,superfamily_HSP20-like_chaperone,pfscan_Hsp20,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 107 0 0.00 18 10 35.71 - - - IDE 0 genome.wustl.edu 37 10 94230067 94230067 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 94230067 94230067 G C SNP IDE ENST00000265986 human ensembl 69_37n -1 known missense c.2152 p.Q718E 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 211 1 0.47 216 25 10.37 - - - IDE 0 genome.wustl.edu 37 10 94230067 94230067 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 94230067 94230067 G C SNP IDE ENST00000265986 human ensembl 69_37n -1 known missense c.2152 p.Q718E 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 211 1 0.47 339 40 10.55 - - - INPP4A 0 genome.wustl.edu 37 2 99203969 99203969 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 99203969 99203969 G C SNP INPP4A ENST00000074304 human ensembl 69_37n +1 known missense c.2832 p.K944N 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC ENSG00000040933 141 0 0.00 141 18 11.32 - - - INPP4A 0 genome.wustl.edu 37 2 99203969 99203969 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 99203969 99203969 G C SNP INPP4A ENST00000074304 human ensembl 69_37n +1 known missense c.2832 p.K944N 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC ENSG00000040933 141 0 0.00 218 31 12.45 - - - ITK 0 genome.wustl.edu 37 5 156672782 156672782 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 156672782 156672782 C T SNP ITK ENST00000422843 human ensembl 69_37n +1 known missense c.1496 p.S499F 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 185 0 0.00 102 36 26.09 - - - ITK 0 genome.wustl.edu 37 5 156672782 156672782 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 156672782 156672782 C T SNP ITK ENST00000422843 human ensembl 69_37n +1 known missense c.1496 p.S499F 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 185 0 0.00 147 52 26.13 - - - KAT2B 0 genome.wustl.edu 37 3 20161094 20161094 + Silent SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 20161094 20161094 C A SNP KAT2B ENST00000263754 human ensembl 69_37n +1 known silent c.1155 p.I385 1.000 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2B HGNC ENSG00000114166 117 0 0.00 130 16 10.96 - - - KDM3B 0 genome.wustl.edu 37 5 137721882 137721882 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 137721882 137721882 G A SNP KDM3B ENST00000314358 human ensembl 69_37n +1 known missense c.952 p.E318K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 175 0 0.00 100 30 23.08 - - - KDM3B 0 genome.wustl.edu 37 5 137721882 137721882 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 137721882 137721882 G A SNP KDM3B ENST00000314358 human ensembl 69_37n +1 known missense c.952 p.E318K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 175 0 0.00 63 19 23.17 - - - KIAA0754 0 genome.wustl.edu 37 1 39877483 39877483 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 39877483 39877483 G C SNP KIAA0754 ENST00000530275 human ensembl 69_37n +1 known missense c.1138 p.E380Q 0.933 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 115 0 0.00 120 56 31.82 - - - KIAA0754 0 genome.wustl.edu 37 1 39877483 39877483 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 39877483 39877483 G C SNP KIAA0754 ENST00000530275 human ensembl 69_37n +1 known missense c.1138 p.E380Q 0.933 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 115 0 0.00 77 34 30.63 - - - KIAA0754 0 genome.wustl.edu 37 1 39877816 39877816 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 39877816 39877816 G C SNP KIAA0754 ENST00000530275 human ensembl 69_37n +1 known missense c.1471 p.D491H 1.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 133 0 0.00 111 49 30.63 - - - KIAA0754 0 genome.wustl.edu 37 1 39877816 39877816 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 39877816 39877816 G C SNP KIAA0754 ENST00000530275 human ensembl 69_37n +1 known missense c.1471 p.D491H 1.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 133 0 0.00 77 31 28.70 - - - KIAA1239 0 genome.wustl.edu 37 4 37445636 37445636 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 37445636 37445636 G A SNP KIAA1239 ENST00000309447 human ensembl 69_37n +1 known missense c.2026 p.E676K 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 101 0 0.00 35 9 20.45 - - - KIAA1239 0 genome.wustl.edu 37 4 37445636 37445636 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 37445636 37445636 G A SNP KIAA1239 ENST00000309447 human ensembl 69_37n +1 known missense c.2026 p.E676K 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 101 0 0.00 63 16 20.25 - - - KIAA1432 0 genome.wustl.edu 37 9 5762597 5762597 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 5762597 5762597 G A SNP KIAA1432 ENST00000545641 human ensembl 69_37n +1 novel missense c.1723 p.E575K 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA1432 HGNC ENSG00000107036 138 0 0.00 68 17 20.00 - - - KIAA1432 0 genome.wustl.edu 37 9 5762597 5762597 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 5762597 5762597 G A SNP KIAA1432 ENST00000545641 human ensembl 69_37n +1 novel missense c.1723 p.E575K 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA1432 HGNC ENSG00000107036 138 0 0.00 96 29 23.20 - - - KIF3C 0 genome.wustl.edu 37 2 26203692 26203692 + Silent SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 26203692 26203692 G T SNP KIF3C ENST00000264712 human ensembl 69_37n -1 known silent c.1095 p.I365 0.999 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 145 0 0.00 46 12 20.69 - - - KIF3C 0 genome.wustl.edu 37 2 26203692 26203692 + Silent SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 26203692 26203692 G T SNP KIF3C ENST00000264712 human ensembl 69_37n -1 known silent c.1095 p.I365 0.999 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 145 0 0.00 65 20 23.53 - - - KIF5B 0 genome.wustl.edu 37 10 32344886 32344886 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 32344886 32344886 C T SNP KIF5B ENST00000302418 human ensembl 69_37n -1 known missense c.16 p.E6K 1.000 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 17 0 0.00 3 3 50.00 - - - KPNA4 0 genome.wustl.edu 37 3 160225904 160225904 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 160225904 160225904 C G SNP KPNA4 ENST00000334256 human ensembl 69_37n -1 known missense c.1363 p.E455Q 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA4 HGNC ENSG00000186432 124 0 0.00 196 44 18.33 - - - KPNA4 0 genome.wustl.edu 37 3 160225904 160225904 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 160225904 160225904 C G SNP KPNA4 ENST00000334256 human ensembl 69_37n -1 known missense c.1363 p.E455Q 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA4 HGNC ENSG00000186432 124 0 0.00 316 79 20.00 - - - LAG3 0 genome.wustl.edu 37 12 6886451 6886451 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 6886451 6886451 C T SNP LAG3 ENST00000203629 human ensembl 69_37n +1 known missense c.1079 p.S360L 0.001 NULL smart_Ig_sub,pfscan_Ig-like - no_errors LAG3 HGNC ENSG00000089692 65 0 0.00 33 19 36.54 - - - LAG3 0 genome.wustl.edu 37 12 6886451 6886451 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 6886451 6886451 C T SNP LAG3 ENST00000203629 human ensembl 69_37n +1 known missense c.1079 p.S360L 0.001 NULL smart_Ig_sub,pfscan_Ig-like - no_errors LAG3 HGNC ENSG00000089692 65 0 0.00 58 27 31.76 - - - LARGE 0 genome.wustl.edu 37 22 33960864 33960864 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 22 33960864 33960864 C G SNP LARGE ENST00000354992 human ensembl 69_37n -1 known missense c.757 p.E253Q 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 78 0 0.00 38 12 24.00 - - - LARGE 0 genome.wustl.edu 37 22 33960864 33960864 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 22 33960864 33960864 C G SNP LARGE ENST00000354992 human ensembl 69_37n -1 known missense c.757 p.E253Q 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 78 0 0.00 60 21 25.93 - - - LIFR 0 genome.wustl.edu 37 5 38493737 38493737 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 38493737 38493737 G A SNP LIFR ENST00000263409 human ensembl 69_37n -1 known missense c.2036 p.S679L 0.982 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 108 0 0.00 104 20 16.13 - - - LIFR 0 genome.wustl.edu 37 5 38493737 38493737 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 38493737 38493737 G A SNP LIFR ENST00000263409 human ensembl 69_37n -1 known missense c.2036 p.S679L 0.982 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 108 0 0.00 149 26 14.86 - - - LILRB5 0 genome.wustl.edu 37 19 54756786 54756786 + Silent SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 54756786 54756786 G T SNP LILRB5 ENST00000450632 human ensembl 69_37n -1 known silent c.1395 p.L465 0.015 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC ENSG00000105609 219 1 0.45 39 14 26.42 - - - LILRB5 0 genome.wustl.edu 37 19 54756786 54756786 + Silent SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 54756786 54756786 G T SNP LILRB5 ENST00000450632 human ensembl 69_37n -1 known silent c.1395 p.L465 0.015 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC ENSG00000105609 219 1 0.45 60 18 23.08 - - - LIMA1 0 genome.wustl.edu 37 12 50616256 50616256 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 50616256 50616256 G C SNP LIMA1 ENST00000394943 human ensembl 69_37n -1 known missense c.178 p.L60V 0.980 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 54 0 0.00 26 8 23.53 - - - LIMA1 0 genome.wustl.edu 37 12 50616256 50616256 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 50616256 50616256 G C SNP LIMA1 ENST00000394943 human ensembl 69_37n -1 known missense c.178 p.L60V 0.980 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 54 0 0.00 39 11 22.00 - - - LOC338651 0 genome.wustl.edu 37 11 1618885 1618885 + RNA SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 1618885 1618885 C T SNP LOC338651 ENST00000424148 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors RP13-25N22.1 Clone_based_vega_gene ENSG00000233930 83 0 0.00 19 5 20.83 - - - LOC338651 0 genome.wustl.edu 37 11 1618885 1618885 + RNA SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 1618885 1618885 C T SNP LOC338651 ENST00000424148 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors RP13-25N22.1 Clone_based_vega_gene ENSG00000233930 83 0 0.00 26 8 23.53 - - - LRP12 0 genome.wustl.edu 37 8 105503585 105503585 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 105503585 105503585 C T SNP LRP12 ENST00000424843 human ensembl 69_37n -1 known silent c.1839 p.Q613 0.938 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 97 0 0.00 110 37 25.17 - - - LRP12 0 genome.wustl.edu 37 8 105503585 105503585 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 105503585 105503585 C T SNP LRP12 ENST00000424843 human ensembl 69_37n -1 known silent c.1839 p.Q613 0.938 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 97 0 0.00 66 22 25.00 - - - LRRC6 0 genome.wustl.edu 37 8 133637540 133637540 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 133637540 133637540 G C SNP LRRC6 ENST00000250173 human ensembl 69_37n -1 known missense c.814 p.R272G 0.992 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS-like_domain - no_errors LRRC6 HGNC ENSG00000129295 349 0 0.00 350 88 20.09 - - - LRRC6 0 genome.wustl.edu 37 8 133637540 133637540 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 133637540 133637540 G C SNP LRRC6 ENST00000250173 human ensembl 69_37n -1 known missense c.814 p.R272G 0.992 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS-like_domain - no_errors LRRC6 HGNC ENSG00000129295 349 0 0.00 528 149 22.01 - - - LTBP4 0 genome.wustl.edu 37 19 41114263 41114263 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 41114263 41114263 C G SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known missense c.1495 p.R499G 0.000 NULL 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 58 0 0.00 13 6 31.58 - - - LTBP4 0 genome.wustl.edu 37 19 41114263 41114263 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 41114263 41114263 C G SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known missense c.1495 p.R499G 0.000 NULL 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 58 0 0.00 21 7 25.00 - - - LZIC 0 genome.wustl.edu 37 1 9995660 9995660 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 9995660 9995660 C T SNP LZIC ENST00000541052 human ensembl 69_37n -1 known missense c.190 p.E64K 1.000 NULL pfam_ICAT,superfamily_ICAT - no_errors LZIC HGNC ENSG00000162441 146 0 0.00 252 52 17.05 - - - LZIC 0 genome.wustl.edu 37 1 9995660 9995660 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 9995660 9995660 C T SNP LZIC ENST00000541052 human ensembl 69_37n -1 known missense c.190 p.E64K 1.000 NULL pfam_ICAT,superfamily_ICAT - no_errors LZIC HGNC ENSG00000162441 146 0 0.00 400 100 19.96 - - - MAGI2 0 genome.wustl.edu 37 7 77789382 77789382 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 77789382 77789382 G A SNP MAGI2 ENST00000354212 human ensembl 69_37n -1 known silent c.2805 p.I935 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 100 0 0.00 46 7 13.21 - - - MAGI2 0 genome.wustl.edu 37 7 77789382 77789382 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 77789382 77789382 G A SNP MAGI2 ENST00000354212 human ensembl 69_37n -1 known silent c.2805 p.I935 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 100 0 0.00 73 12 14.12 - - - MAP2 0 genome.wustl.edu 37 2 210557864 210557864 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 210557864 210557864 C G SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.970 p.L324V 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 84 0 0.00 47 12 20.34 - - - MAP2 0 genome.wustl.edu 37 2 210557864 210557864 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 210557864 210557864 C G SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.970 p.L324V 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 84 0 0.00 80 18 18.37 - - - MDC1 0 genome.wustl.edu 37 6 30671702 30671702 + Nonsense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 30671702 30671702 G C SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known nonsense c.5258 p.S1753* 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 92 0 0.00 67 8 10.53 - - - MDC1 0 genome.wustl.edu 37 6 30671702 30671702 + Nonsense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 30671702 30671702 G C SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known nonsense c.5258 p.S1753* 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 92 0 0.00 90 12 11.65 - - - METTL8 0 genome.wustl.edu 37 2 172196014 172196014 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 172196014 172196014 G C SNP METTL8 ENST00000392604 human ensembl 69_37n -1 known missense c.286 p.H96D 1.000 NULL pfam_Methyltransf_11 - no_errors METTL8 HGNC ENSG00000123600 59 0 0.00 111 17 13.28 - - - METTL8 0 genome.wustl.edu 37 2 172196014 172196014 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 172196014 172196014 G C SNP METTL8 ENST00000392604 human ensembl 69_37n -1 known missense c.286 p.H96D 1.000 NULL pfam_Methyltransf_11 - no_errors METTL8 HGNC ENSG00000123600 59 0 0.00 163 26 13.76 - - - MFI2 0 genome.wustl.edu 37 3 196736612 196736612 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 196736612 196736612 C A SNP MFI2 ENST00000296350 human ensembl 69_37n -1 known missense c.1402 p.D468Y 0.810 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors MFI2 HGNC ENSG00000163975 33 0 0.00 13 3 18.75 - - - MFSD6 0 genome.wustl.edu 37 2 191301691 191301691 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 191301691 191301691 C T SNP MFSD6 ENST00000281416 human ensembl 69_37n +1 known silent c.936 p.V312 0.103 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 126 0 0.00 143 38 20.99 - - - MFSD6 0 genome.wustl.edu 37 2 191301691 191301691 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 191301691 191301691 C T SNP MFSD6 ENST00000281416 human ensembl 69_37n +1 known silent c.936 p.V312 0.103 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 126 0 0.00 98 26 20.97 - - - MGA 0 genome.wustl.edu 37 15 42052536 42052536 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 15 42052536 42052536 C G SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.7207 p.L2403V 0.003 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 94 0 0.00 50 18 26.47 - - - MGA 0 genome.wustl.edu 37 15 42052536 42052536 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 15 42052536 42052536 C G SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.7207 p.L2403V 0.003 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 94 0 0.00 80 31 27.93 - - - MGAT4C 0 genome.wustl.edu 37 12 86383282 86383282 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 86383282 86383282 C G SNP MGAT4C ENST00000393205 human ensembl 69_37n -1 known missense c.130 p.D44H 1.000 superfamily_LSM_dom pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 87 0 0.00 151 35 18.82 - - - MGAT4C 0 genome.wustl.edu 37 12 86383282 86383282 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 86383282 86383282 C G SNP MGAT4C ENST00000393205 human ensembl 69_37n -1 known missense c.130 p.D44H 1.000 superfamily_LSM_dom pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 87 0 0.00 96 20 17.24 - - - MMP28 0 genome.wustl.edu 37 17 34105959 34105959 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 34105959 34105959 C G SNP MMP28 ENST00000587639 human ensembl 69_37n -1 known missense c.312 p.E104D 0.987 NULL pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like - no_errors MMP28 HGNC ENSG00000129270 116 0 0.00 20 3 13.04 - - - MON2 0 genome.wustl.edu 37 12 62954645 62954645 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 62954645 62954645 G C SNP MON2 ENST00000393630 human ensembl 69_37n +1 known missense c.3787 p.D1263H 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 235 0 0.00 180 50 21.65 - - - MON2 0 genome.wustl.edu 37 12 62954645 62954645 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 62954645 62954645 G C SNP MON2 ENST00000393630 human ensembl 69_37n +1 known missense c.3787 p.D1263H 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 235 0 0.00 289 78 21.20 - - - MTOR 0 genome.wustl.edu 37 1 11174872 11174872 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 11174872 11174872 C G SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.7162 p.E2388Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 89 0 0.00 155 27 14.84 - - - MTOR 0 genome.wustl.edu 37 1 11174872 11174872 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 11174872 11174872 C G SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.7162 p.E2388Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 89 0 0.00 97 14 12.61 - - - MUC12 0 genome.wustl.edu 37 7 100635483 100635483 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 100635483 100635483 C A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.2068 p.Q690K 0.019 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 446 0 0.00 199 39 16.39 - - - MUC12 0 genome.wustl.edu 37 7 100635483 100635483 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 100635483 100635483 C A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.2068 p.Q690K 0.019 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 446 0 0.00 304 58 16.02 - - - NCOR1 0 genome.wustl.edu 37 17 16068438 16068438 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 16068438 16068438 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.473 p.S158F 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 208 0 0.00 221 30 11.95 - - - NEDD4L 0 genome.wustl.edu 37 18 55916155 55916155 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 18 55916155 55916155 G C SNP NEDD4L ENST00000400345 human ensembl 69_37n +1 known missense c.229 p.E77Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 135 0 0.00 180 41 18.55 - - - NEDD4L 0 genome.wustl.edu 37 18 55916155 55916155 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 18 55916155 55916155 G C SNP NEDD4L ENST00000400345 human ensembl 69_37n +1 known missense c.229 p.E77Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 135 0 0.00 295 78 20.91 - - - NEK5 0 genome.wustl.edu 37 13 52663415 52663415 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 13 52663415 52663415 G A SNP NEK5 ENST00000355568 human ensembl 69_37n -1 known nonsense c.1243 p.Q415* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 159 0 0.00 185 35 15.91 - - - NEK5 0 genome.wustl.edu 37 13 52663415 52663415 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 13 52663415 52663415 G A SNP NEK5 ENST00000355568 human ensembl 69_37n -1 known nonsense c.1243 p.Q415* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 159 0 0.00 300 54 15.25 - - - NFYC 0 genome.wustl.edu 37 1 41228646 41228646 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 41228646 41228646 G A SNP NFYC ENST00000414185 human ensembl 69_37n +1 putative missense c.295 p.E99K 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NFYC HGNC ENSG00000066136 55 0 0.00 26 3 10.34 - - - NOP58 0 genome.wustl.edu 37 2 203139857 203139857 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 203139857 203139857 C G SNP NOP58 ENST00000264279 human ensembl 69_37n +1 known missense c.67 p.Q23E 1.000 pfam_NOP5_N pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 76 0 0.00 165 38 18.72 - - - NOP58 0 genome.wustl.edu 37 2 203139857 203139857 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 203139857 203139857 C G SNP NOP58 ENST00000264279 human ensembl 69_37n +1 known missense c.67 p.Q23E 1.000 pfam_NOP5_N pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 76 0 0.00 94 23 19.66 - - - NUF2 0 genome.wustl.edu 37 1 163318851 163318851 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 163318851 163318851 G A SNP NUF2 ENST00000271452 human ensembl 69_37n +1 known missense c.1241 p.R414K 0.874 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 94 0 0.00 123 101 45.09 - - - NUF2 0 genome.wustl.edu 37 1 163318851 163318851 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 163318851 163318851 G A SNP NUF2 ENST00000271452 human ensembl 69_37n +1 known missense c.1241 p.R414K 0.874 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 94 0 0.00 66 65 49.62 - - - OPALIN 0 genome.wustl.edu 37 10 98108092 98108092 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 98108092 98108092 C T SNP OPALIN ENST00000371172 human ensembl 69_37n -1 known missense c.203 p.R68K 0.779 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 95 0 0.00 151 30 16.57 - - - OPALIN 0 genome.wustl.edu 37 10 98108092 98108092 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 98108092 98108092 C T SNP OPALIN ENST00000371172 human ensembl 69_37n -1 known missense c.203 p.R68K 0.779 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 95 0 0.00 235 56 19.24 - - - OR1L4 0 genome.wustl.edu 37 9 125487177 125487177 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 125487177 125487177 G A SNP OR1L4 ENST00000259466 human ensembl 69_37n +1 known silent c.909 p.K303 0.089 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1L4 HGNC ENSG00000136939 68 0 0.00 44 7 13.73 - - - OR1L4 0 genome.wustl.edu 37 9 125487177 125487177 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 125487177 125487177 G A SNP OR1L4 ENST00000259466 human ensembl 69_37n +1 known silent c.909 p.K303 0.089 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1L4 HGNC ENSG00000136939 68 0 0.00 65 15 18.75 - - - OR51D1 0 genome.wustl.edu 37 11 4661785 4661785 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 4661785 4661785 C T SNP OR51D1 ENST00000357605 human ensembl 69_37n +1 known silent c.765 p.I255 0.898 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR51D1 HGNC ENSG00000197428 171 0 0.00 125 33 20.89 - - - OR51D1 0 genome.wustl.edu 37 11 4661785 4661785 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 4661785 4661785 C T SNP OR51D1 ENST00000357605 human ensembl 69_37n +1 known silent c.765 p.I255 0.898 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR51D1 HGNC ENSG00000197428 171 0 0.00 193 51 20.90 - - - OR7A17 0 genome.wustl.edu 37 19 14992033 14992033 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 14992033 14992033 G A SNP OR7A17 ENST00000327462 human ensembl 69_37n -1 known silent c.135 p.I45 0.947 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 72 0 0.00 38 10 20.83 - - - OR7A17 0 genome.wustl.edu 37 19 14992033 14992033 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 14992033 14992033 G A SNP OR7A17 ENST00000327462 human ensembl 69_37n -1 known silent c.135 p.I45 0.947 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 72 0 0.00 61 18 22.78 - - - ORM2 0 genome.wustl.edu 37 9 117092822 117092822 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 117092822 117092822 G C SNP ORM2 ENST00000431067 human ensembl 69_37n +1 known missense c.223 p.E75Q 0.001 pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM2 HGNC ENSG00000228278 160 0 0.00 138 43 23.76 - - - ORM2 0 genome.wustl.edu 37 9 117092822 117092822 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 117092822 117092822 G C SNP ORM2 ENST00000431067 human ensembl 69_37n +1 known missense c.223 p.E75Q 0.001 pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM2 HGNC ENSG00000228278 160 0 0.00 93 25 21.19 - - - OXCT1 0 genome.wustl.edu 37 5 41731843 41731843 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 41731843 41731843 C G SNP OXCT1 ENST00000196371 human ensembl 69_37n -1 known missense c.1551 p.Q517H 1.000 pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 91 0 0.00 155 35 18.42 - - - OXCT1 0 genome.wustl.edu 37 5 41731843 41731843 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 41731843 41731843 C G SNP OXCT1 ENST00000196371 human ensembl 69_37n -1 known missense c.1551 p.Q517H 1.000 pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 91 0 0.00 96 22 18.64 - - - PACSIN3 0 genome.wustl.edu 37 11 47201107 47201107 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 47201107 47201107 C T SNP PACSIN3 ENST00000298838 human ensembl 69_37n -1 known missense c.634 p.E212K 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,prints_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 48 0 0.00 12 6 33.33 - - - PACSIN3 0 genome.wustl.edu 37 11 47201107 47201107 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 47201107 47201107 C T SNP PACSIN3 ENST00000298838 human ensembl 69_37n -1 known missense c.634 p.E212K 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,prints_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 48 0 0.00 21 9 30.00 - - - PACSIN3 0 genome.wustl.edu 37 11 47201108 47201108 + Silent SNP T T G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 47201108 47201108 T G SNP PACSIN3 ENST00000298838 human ensembl 69_37n -1 known silent c.633 p.A211 0.505 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,prints_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 47 0 0.00 12 5 29.41 - - - PACSIN3 0 genome.wustl.edu 37 11 47201108 47201108 + Silent SNP T T G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 47201108 47201108 T G SNP PACSIN3 ENST00000298838 human ensembl 69_37n -1 known silent c.633 p.A211 0.505 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,prints_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 47 0 0.00 20 8 27.59 - - - PCDH19 0 genome.wustl.edu 37 X 99662072 99662072 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 99662072 99662072 G C SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.1524 p.I508M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 90 0 0.00 25 5 16.67 - - - PCDH19 0 genome.wustl.edu 37 X 99662072 99662072 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 99662072 99662072 G C SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.1524 p.I508M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 90 0 0.00 45 13 22.41 - - - PEX11B 0 genome.wustl.edu 37 1 145522859 145522859 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 145522859 145522859 C T SNP PEX11B ENST00000369306 human ensembl 69_37n +1 known silent c.720 p.L240 0.017 pfam_PEX11 pfam_PEX11 - no_errors PEX11B HGNC ENSG00000131779 74 0 0.00 29 12 29.27 - - - PEX11B 0 genome.wustl.edu 37 1 145522859 145522859 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 145522859 145522859 C T SNP PEX11B ENST00000369306 human ensembl 69_37n +1 known silent c.720 p.L240 0.017 pfam_PEX11 pfam_PEX11 - no_errors PEX11B HGNC ENSG00000131779 74 0 0.00 56 14 20.00 - - - PHIP 0 genome.wustl.edu 37 6 79672892 79672892 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 79672892 79672892 C T SNP PHIP ENST00000275034 human ensembl 69_37n -1 known missense c.3457 p.D1153N 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 160 0 0.00 167 57 25.33 - - - PHIP 0 genome.wustl.edu 37 6 79672892 79672892 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 79672892 79672892 C T SNP PHIP ENST00000275034 human ensembl 69_37n -1 known missense c.3457 p.D1153N 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 160 0 0.00 297 94 23.98 - - - PHKA2 0 genome.wustl.edu 37 X 18936866 18936866 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 18936866 18936866 G A SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known silent c.2070 p.F690 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 89 0 0.00 130 39 23.08 - - - PHKA2 0 genome.wustl.edu 37 X 18936866 18936866 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 18936866 18936866 G A SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known silent c.2070 p.F690 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 89 0 0.00 80 25 23.81 - - - PIEZO1 0 genome.wustl.edu 37 16 88783032 88783032 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 88783032 88783032 C G SNP PIEZO1 ENST00000327397 human ensembl 69_37n -1 known missense c.465 p.Q155H 1.000 pfam_DUF3595 pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 40 0 0.00 3 3 50.00 - - - PIK3CD 0 genome.wustl.edu 37 1 9781571 9781571 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 9781571 9781571 C T SNP PIK3CD ENST00000536656 human ensembl 69_37n +1 known silent c.1953 p.C651 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 73 0 0.00 14 2 12.50 - - - PLAC1L 0 genome.wustl.edu 37 11 59810970 59810970 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 59810970 59810970 G A SNP PLAC1L ENST00000278855 human ensembl 69_37n +1 known silent c.93 p.L31 0.102 NULL NULL - no_errors PLAC1L HGNC ENSG00000149507 184 0 0.00 218 53 19.56 - - - PLAC1L 0 genome.wustl.edu 37 11 59810970 59810970 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 59810970 59810970 G A SNP PLAC1L ENST00000278855 human ensembl 69_37n +1 known silent c.93 p.L31 0.102 NULL NULL - no_errors PLAC1L HGNC ENSG00000149507 184 0 0.00 342 87 20.28 - - - POLH 0 genome.wustl.edu 37 6 43550143 43550143 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 43550143 43550143 G C SNP POLH ENST00000372236 human ensembl 69_37n +1 known missense c.87 p.L29F 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 189 0 0.00 137 40 22.47 - - - POLH 0 genome.wustl.edu 37 6 43550143 43550143 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 43550143 43550143 G C SNP POLH ENST00000372236 human ensembl 69_37n +1 known missense c.87 p.L29F 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 189 0 0.00 205 63 23.42 - - - PPP1R14B 0 genome.wustl.edu 37 11 64012756 64012756 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 64012756 64012756 C T SNP PPP1R14B ENST00000309318 human ensembl 69_37n -1 known missense c.262 p.E88K 1.000 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 61 0 0.00 18 2 10.00 - - - PQBP1 0 genome.wustl.edu 37 X 48759632 48759632 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 48759632 48759632 G A SNP PQBP1 ENST00000218224 human ensembl 69_37n +1 known missense c.415 p.D139N 0.994 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PQBP1 HGNC ENSG00000102103 132 0 0.00 17 5 22.73 - - - PQBP1 0 genome.wustl.edu 37 X 48759632 48759632 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 48759632 48759632 G A SNP PQBP1 ENST00000218224 human ensembl 69_37n +1 known missense c.415 p.D139N 0.994 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PQBP1 HGNC ENSG00000102103 132 0 0.00 22 8 26.67 - - - PRAMEF4 0 genome.wustl.edu 37 1 12939611 12939611 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 12939611 12939611 C T SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known silent c.1191 p.L397 0.001 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 214 0 0.00 154 28 15.38 - - - PRAMEF4 0 genome.wustl.edu 37 1 12939611 12939611 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 12939611 12939611 C T SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known silent c.1191 p.L397 0.001 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 214 0 0.00 93 16 14.68 - - - PRAMEF4 0 genome.wustl.edu 37 1 12943161 12943161 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 12943161 12943161 G T SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known missense c.55 p.L19M 0.074 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 130 0 0.00 14 16 53.33 - - - PRAMEF4 0 genome.wustl.edu 37 1 12943161 12943161 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 12943161 12943161 G T SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known missense c.55 p.L19M 0.074 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 130 0 0.00 26 25 49.02 - - - PROK1 0 genome.wustl.edu 37 1 110998922 110998922 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 110998922 110998922 C T SNP PROK1 ENST00000271331 human ensembl 69_37n +1 known silent c.267 p.F89 0.042 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK1 HGNC ENSG00000143125 58 0 0.00 37 9 19.57 - - - PROK1 0 genome.wustl.edu 37 1 110998922 110998922 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 110998922 110998922 C T SNP PROK1 ENST00000271331 human ensembl 69_37n +1 known silent c.267 p.F89 0.042 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK1 HGNC ENSG00000143125 58 0 0.00 53 13 19.70 - - - PROM1 0 genome.wustl.edu 37 4 16010727 16010727 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 16010727 16010727 G C SNP PROM1 ENST00000447510 human ensembl 69_37n -1 known missense c.1146 p.I382M 0.956 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 113 0 0.00 138 16 10.39 - - - PRR21 0 genome.wustl.edu 37 2 240982327 240982327 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 240982327 240982327 G C SNP PRR21 ENST00000408934 human ensembl 69_37n -1 known missense c.73 p.Q25E 0.004 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 404 0 0.00 105 37 26.06 - - - PRR21 0 genome.wustl.edu 37 2 240982327 240982327 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 240982327 240982327 G C SNP PRR21 ENST00000408934 human ensembl 69_37n -1 known missense c.73 p.Q25E 0.004 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 404 0 0.00 164 56 25.45 - - - PSMB4 0 genome.wustl.edu 37 1 151372187 151372187 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 151372187 151372187 C G SNP PSMB4 ENST00000290541 human ensembl 69_37n +1 known missense c.124 p.P42A 0.434 pirsf_Proteasome_endopept_cplx_B pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B - no_errors PSMB4 HGNC ENSG00000159377 58 0 0.00 27 5 15.62 - - - PSMC6 0 genome.wustl.edu 37 14 53177881 53177881 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 53177881 53177881 C T SNP PSMC6 ENST00000556813 human ensembl 69_37n +1 novel missense c.319 p.H107Y 0.998 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSMC6 HGNC ENSG00000100519 173 0 0.00 180 27 13.04 - - - PSMC6 0 genome.wustl.edu 37 14 53177881 53177881 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 14 53177881 53177881 C T SNP PSMC6 ENST00000556813 human ensembl 69_37n +1 novel missense c.319 p.H107Y 0.998 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSMC6 HGNC ENSG00000100519 173 0 0.00 305 39 11.34 - - - PTEN 0 genome.wustl.edu 37 10 89712018 89712018 + Splice_Site SNP T T C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 89712018 89712018 T C SNP PTEN ENST00000371953 human ensembl 69_37n +1 known splice_site c.634+2 e6+2 1.000 - - - no_errors PTEN HGNC ENSG00000171862 79 0 0.00 105 47 30.92 - - - PTEN 0 genome.wustl.edu 37 10 89712018 89712018 + Splice_Site SNP T T C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 89712018 89712018 T C SNP PTEN ENST00000371953 human ensembl 69_37n +1 known splice_site c.634+2 e6+2 1.000 - - - no_errors PTEN HGNC ENSG00000171862 79 0 0.00 58 34 36.96 - - - PTPRF 0 genome.wustl.edu 37 1 44087660 44087660 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 44087660 44087660 C A SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.5710 p.H1904N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 73 0 0.00 13 4 23.53 - - - PTPRF 0 genome.wustl.edu 37 1 44087660 44087660 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 44087660 44087660 C A SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.5710 p.H1904N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 73 0 0.00 24 6 20.00 - - - PTPRH 0 genome.wustl.edu 37 19 55715306 55715306 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 55715306 55715306 G A SNP PTPRH ENST00000376350 human ensembl 69_37n -1 known nonsense c.730 p.Q244* 0.177 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 151 0 0.00 103 25 19.53 - - - PTPRH 0 genome.wustl.edu 37 19 55715306 55715306 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 55715306 55715306 G A SNP PTPRH ENST00000376350 human ensembl 69_37n -1 known nonsense c.730 p.Q244* 0.177 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 151 0 0.00 64 16 20.00 - - - PUF60 0 genome.wustl.edu 37 8 144900366 144900366 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 144900366 144900366 G A SNP PUF60 ENST00000532884 human ensembl 69_37n -1 putative missense c.194 p.S65L 0.992 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_start_codon:pseudogene:no_stop_codon PUF60 HGNC ENSG00000179950 38 0 0.00 14 2 12.50 - - - RASAL3 0 genome.wustl.edu 37 19 15575074 15575074 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 15575074 15575074 C A SNP RASAL3 ENST00000343625 human ensembl 69_37n -1 known missense c.96 p.E32D 0.912 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 80 0 0.00 15 6 28.57 - - - RASAL3 0 genome.wustl.edu 37 19 15575074 15575074 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 15575074 15575074 C A SNP RASAL3 ENST00000343625 human ensembl 69_37n -1 known missense c.96 p.E32D 0.912 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 80 0 0.00 23 10 30.30 - - - RGS20 0 genome.wustl.edu 37 8 54852243 54852243 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 54852243 54852243 C T SNP RGS20 ENST00000297313 human ensembl 69_37n +1 known silent c.618 p.N206 0.272 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS20 HGNC ENSG00000147509 128 0 0.00 17 9 33.33 - - - RGS20 0 genome.wustl.edu 37 8 54852243 54852243 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 54852243 54852243 C T SNP RGS20 ENST00000297313 human ensembl 69_37n +1 known silent c.618 p.N206 0.272 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS20 HGNC ENSG00000147509 128 0 0.00 33 12 26.09 - - - RGS4 0 genome.wustl.edu 37 1 163043290 163043290 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 163043290 163043290 G A SNP RGS4 ENST00000421743 human ensembl 69_37n +1 known missense c.547 p.E183K 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC ENSG00000117152 111 0 0.00 167 23 12.11 - - - RGS4 0 genome.wustl.edu 37 1 163043290 163043290 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 163043290 163043290 G A SNP RGS4 ENST00000421743 human ensembl 69_37n +1 known missense c.547 p.E183K 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC ENSG00000117152 111 0 0.00 262 38 12.67 - - - RIPK1 0 genome.wustl.edu 37 6 3085612 3085612 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 3085612 3085612 G T SNP RIPK1 ENST00000259808 human ensembl 69_37n +1 known missense c.808 p.A270S 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 67 0 0.00 31 15 32.61 - - - RIPK1 0 genome.wustl.edu 37 6 3085612 3085612 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 3085612 3085612 G T SNP RIPK1 ENST00000259808 human ensembl 69_37n +1 known missense c.808 p.A270S 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 67 0 0.00 48 19 28.36 - - - RLF 0 genome.wustl.edu 37 1 40705986 40705986 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 40705986 40705986 G A SNP RLF ENST00000372771 human ensembl 69_37n +1 known missense c.5612 p.C1871Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 116 0 0.00 157 45 22.28 - - - RLF 0 genome.wustl.edu 37 1 40705986 40705986 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 40705986 40705986 G A SNP RLF ENST00000372771 human ensembl 69_37n +1 known missense c.5612 p.C1871Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 116 0 0.00 98 25 20.33 - - - RPTN 0 genome.wustl.edu 37 1 152129019 152129019 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 152129019 152129019 C G SNP RPTN ENST00000316073 human ensembl 69_37n -1 known missense c.556 p.E186Q 0.714 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors RPTN HGNC ENSG00000215853 313 0 0.00 257 51 16.56 - - - RPTN 0 genome.wustl.edu 37 1 152129019 152129019 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 152129019 152129019 C G SNP RPTN ENST00000316073 human ensembl 69_37n -1 known missense c.556 p.E186Q 0.714 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors RPTN HGNC ENSG00000215853 313 0 0.00 392 92 19.01 - - - RTP4 0 genome.wustl.edu 37 3 187088789 187088789 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 187088789 187088789 G A SNP RTP4 ENST00000259030 human ensembl 69_37n +1 known silent c.369 p.L123 0.012 NULL NULL - no_errors RTP4 HGNC ENSG00000136514 80 0 0.00 27 12 30.77 - - - RTP4 0 genome.wustl.edu 37 3 187088789 187088789 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 187088789 187088789 G A SNP RTP4 ENST00000259030 human ensembl 69_37n +1 known silent c.369 p.L123 0.012 NULL NULL - no_errors RTP4 HGNC ENSG00000136514 80 0 0.00 47 22 31.88 - - - RUNX1 0 genome.wustl.edu 37 21 36252856 36252857 + Frame_Shift_Ins INS - - T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 21 36252856 36252857 - T INS RUNX1 ENST00000300305 human ensembl 69_37n -1 known frame_shift_ins c.506_505 p.R169fs 1.000:0.998 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 87 0 0.00 101 23 18.55 - - - RUNX1 0 genome.wustl.edu 37 21 36252856 36252857 + Frame_Shift_Ins INS - - T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 21 36252856 36252857 - T INS RUNX1 ENST00000300305 human ensembl 69_37n -1 known frame_shift_ins c.506_505 p.R169fs 1.000:0.998 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 87 0 0.00 55 13 19.12 - - - SCARB1 0 genome.wustl.edu 37 12 125292447 125292447 + Nonsense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 125292447 125292447 G T SNP SCARB1 ENST00000415380 human ensembl 69_37n -1 known nonsense c.869 p.S290* 0.002 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 45 0 0.00 17 3 15.00 - - - SCN11A 0 genome.wustl.edu 37 3 38968358 38968358 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 38968358 38968358 G C SNP SCN11A ENST00000302328 human ensembl 69_37n -1 known missense c.553 p.L185V 0.575 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 111 0 0.00 123 31 20.13 - - - SCN11A 0 genome.wustl.edu 37 3 38968358 38968358 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 38968358 38968358 G C SNP SCN11A ENST00000302328 human ensembl 69_37n -1 known missense c.553 p.L185V 0.575 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 111 0 0.00 200 49 19.68 - - - SCN4A 0 genome.wustl.edu 37 17 62041972 62041972 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 62041972 62041972 G C SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known missense c.1308 p.F436L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 148 0 0.00 37 10 21.28 - - - SCN4A 0 genome.wustl.edu 37 17 62041972 62041972 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 62041972 62041972 G C SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known missense c.1308 p.F436L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 148 0 0.00 64 22 25.58 - - - SF3B1 0 genome.wustl.edu 37 2 198267361 198267361 + Missense_Mutation SNP T T C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 198267361 198267361 T C SNP SF3B1 ENST00000335508 human ensembl 69_37n -1 known missense c.1996 p.K666E 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 104 0 0.00 106 43 28.86 - - - SF3B1 0 genome.wustl.edu 37 2 198267361 198267361 + Missense_Mutation SNP T T C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 198267361 198267361 T C SNP SF3B1 ENST00000335508 human ensembl 69_37n -1 known missense c.1996 p.K666E 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 104 0 0.00 76 27 26.21 - - - SHISA9 0 genome.wustl.edu 37 16 13010601 13010601 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 13010601 13010601 G A SNP SHISA9 ENST00000558583 human ensembl 69_37n +1 known missense c.743 p.R248K 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 61 0 0.00 43 9 17.31 - - - SHISA9 0 genome.wustl.edu 37 16 13010601 13010601 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 13010601 13010601 G A SNP SHISA9 ENST00000558583 human ensembl 69_37n +1 known missense c.743 p.R248K 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 61 0 0.00 67 16 19.28 - - - SIK3 0 genome.wustl.edu 37 11 116798097 116798097 + Splice_Site SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 116798097 116798097 C A SNP SIK3 ENST00000375300 human ensembl 69_37n -1 known splice_site c.455-1 e4-1 1.000 - - - no_errors SIK3 HGNC ENSG00000160584 153 0 0.00 117 49 29.52 - - - SIK3 0 genome.wustl.edu 37 11 116798097 116798097 + Splice_Site SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 116798097 116798097 C A SNP SIK3 ENST00000375300 human ensembl 69_37n -1 known splice_site c.455-1 e4-1 1.000 - - - no_errors SIK3 HGNC ENSG00000160584 153 0 0.00 73 30 29.13 - - - SLAIN1 0 genome.wustl.edu 37 13 78327410 78327410 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 13 78327410 78327410 C T SNP SLAIN1 ENST00000466548 human ensembl 69_37n +1 known missense c.1265 p.S422F 0.997 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 112 0 0.00 109 27 19.85 - - - SLAIN1 0 genome.wustl.edu 37 13 78327410 78327410 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 13 78327410 78327410 C T SNP SLAIN1 ENST00000466548 human ensembl 69_37n +1 known missense c.1265 p.S422F 0.997 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 112 0 0.00 58 19 24.68 - - - SLC13A3 0 genome.wustl.edu 37 20 45188729 45188729 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 45188729 45188729 C T SNP SLC13A3 ENST00000279027 human ensembl 69_37n -1 known missense c.1741 p.D581N 0.000 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 71 0 0.00 20 5 20.00 - - - SLC13A3 0 genome.wustl.edu 37 20 45188729 45188729 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 45188729 45188729 C T SNP SLC13A3 ENST00000279027 human ensembl 69_37n -1 known missense c.1741 p.D581N 0.000 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 71 0 0.00 29 8 21.62 - - - SLC22A16 0 genome.wustl.edu 37 6 110763662 110763662 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 110763662 110763662 G A SNP SLC22A16 ENST00000368919 human ensembl 69_37n -1 known missense c.968 p.S323L 0.906 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 121 0 0.00 110 28 20.29 - - - SLC22A16 0 genome.wustl.edu 37 6 110763662 110763662 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 110763662 110763662 G A SNP SLC22A16 ENST00000368919 human ensembl 69_37n -1 known missense c.968 p.S323L 0.906 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 121 0 0.00 72 18 20.00 - - - SLC30A5 0 genome.wustl.edu 37 5 68419174 68419174 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 68419174 68419174 G A SNP SLC30A5 ENST00000396591 human ensembl 69_37n +1 known silent c.1920 p.L640 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 108 0 0.00 142 33 18.86 - - - SLC30A5 0 genome.wustl.edu 37 5 68419174 68419174 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 68419174 68419174 G A SNP SLC30A5 ENST00000396591 human ensembl 69_37n +1 known silent c.1920 p.L640 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 108 0 0.00 216 49 18.49 - - - SMARCC1 0 genome.wustl.edu 37 3 47680259 47680259 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 47680259 47680259 C G SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known missense c.2332 p.E778Q 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 169 0 0.00 169 54 24.22 - - - SMARCC1 0 genome.wustl.edu 37 3 47680259 47680259 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 47680259 47680259 C G SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known missense c.2332 p.E778Q 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 169 0 0.00 293 76 20.60 - - - SMC5 0 genome.wustl.edu 37 9 72913049 72913049 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 72913049 72913049 G C SNP SMC5 ENST00000361138 human ensembl 69_37n +1 known silent c.1221 p.L407 0.999 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC - no_errors SMC5 HGNC ENSG00000198887 117 0 0.00 156 48 23.53 - - - SMC5 0 genome.wustl.edu 37 9 72913049 72913049 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 9 72913049 72913049 G C SNP SMC5 ENST00000361138 human ensembl 69_37n +1 known silent c.1221 p.L407 0.999 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC - no_errors SMC5 HGNC ENSG00000198887 117 0 0.00 81 27 25.00 - - - SNCB 0 genome.wustl.edu 37 5 176048277 176048277 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 176048277 176048277 C T SNP SNCB ENST00000310112 human ensembl 69_37n -1 known missense c.310 p.E104K 1.000 pfam_Synuclein,prints_Synuclein_beta pfam_Synuclein,prints_Synuclein,prints_Synuclein_beta - no_errors SNCB HGNC ENSG00000074317 87 0 0.00 41 11 21.15 - - - SNCB 0 genome.wustl.edu 37 5 176048277 176048277 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 176048277 176048277 C T SNP SNCB ENST00000310112 human ensembl 69_37n -1 known missense c.310 p.E104K 1.000 pfam_Synuclein,prints_Synuclein_beta pfam_Synuclein,prints_Synuclein,prints_Synuclein_beta - no_errors SNCB HGNC ENSG00000074317 87 0 0.00 59 24 28.92 - - - SPEG 0 genome.wustl.edu 37 2 220338317 220338317 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 220338317 220338317 C G SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.4239 p.F1413L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 63 0 0.00 12 5 29.41 - - - SPEG 0 genome.wustl.edu 37 2 220338317 220338317 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 220338317 220338317 C G SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.4239 p.F1413L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 63 0 0.00 20 8 28.57 - - - SPEN 0 genome.wustl.edu 37 1 16257914 16257914 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 16257914 16257914 C T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known nonsense c.5179 p.Q1727* 0.015 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 63 0 0.00 12 5 29.41 - - - SPEN 0 genome.wustl.edu 37 1 16257914 16257914 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 16257914 16257914 C T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known nonsense c.5179 p.Q1727* 0.015 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 63 0 0.00 18 8 30.77 - - - SREK1 0 genome.wustl.edu 37 5 65474672 65474672 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 65474672 65474672 C T SNP SREK1 ENST00000334121 human ensembl 69_37n +1 known silent c.1851 p.L617 0.858 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 103 0 0.00 126 38 23.17 - - - SREK1 0 genome.wustl.edu 37 5 65474672 65474672 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 65474672 65474672 C T SNP SREK1 ENST00000334121 human ensembl 69_37n +1 known silent c.1851 p.L617 0.858 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 103 0 0.00 70 23 24.73 - - - SRL 0 genome.wustl.edu 37 16 4247856 4247856 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 4247856 4247856 G T SNP SRL ENST00000399609 human ensembl 69_37n -1 known missense c.320 p.S107Y 1.000 pfam_Dynamin_GTPase,pfam_GTP_binding_domain pfam_Dynamin_GTPase,pfam_GTP_binding_domain - no_errors SRL HGNC ENSG00000185739 77 0 0.00 127 37 22.56 - - - SRL 0 genome.wustl.edu 37 16 4247856 4247856 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 4247856 4247856 G T SNP SRL ENST00000399609 human ensembl 69_37n -1 known missense c.320 p.S107Y 1.000 pfam_Dynamin_GTPase,pfam_GTP_binding_domain pfam_Dynamin_GTPase,pfam_GTP_binding_domain - no_errors SRL HGNC ENSG00000185739 77 0 0.00 70 26 27.08 - - - SUSD4 0 genome.wustl.edu 37 1 223402560 223402560 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 223402560 223402560 G C SNP SUSD4 ENST00000343846 human ensembl 69_37n -1 known missense c.895 p.Q299E 0.997 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 66 0 0.00 29 8 21.62 - - - SUSD4 0 genome.wustl.edu 37 1 223402560 223402560 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 223402560 223402560 G C SNP SUSD4 ENST00000343846 human ensembl 69_37n -1 known missense c.895 p.Q299E 0.997 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 66 0 0.00 47 14 22.95 - - - TAAR9 0 genome.wustl.edu 37 6 132859522 132859522 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 132859522 132859522 C T SNP TAAR9 ENST00000434551 human ensembl 69_37n +1 known nonsense c.94 p.R32* 0.076 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TAAR9 HGNC ENSG00000237110 117 0 0.00 100 27 21.26 - - - TAAR9 0 genome.wustl.edu 37 6 132859522 132859522 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 132859522 132859522 C T SNP TAAR9 ENST00000434551 human ensembl 69_37n +1 known nonsense c.94 p.R32* 0.076 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TAAR9 HGNC ENSG00000237110 117 0 0.00 160 48 23.08 - - - TAF1 0 genome.wustl.edu 37 X 70607298 70607298 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 70607298 70607298 G A SNP TAF1 ENST00000449580 human ensembl 69_37n +1 known missense c.2411 p.R804Q 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 182 0 0.00 159 49 23.56 - - - TAF1 0 genome.wustl.edu 37 X 70607298 70607298 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 70607298 70607298 G A SNP TAF1 ENST00000449580 human ensembl 69_37n +1 known missense c.2411 p.R804Q 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 182 0 0.00 251 66 20.82 - - - TANC1 0 genome.wustl.edu 37 2 160035600 160035600 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 160035600 160035600 C T SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known silent c.2436 p.F812 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 31 0 0.00 9 2 18.18 - - - TAP1 0 genome.wustl.edu 37 6 32816574 32816574 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 32816574 32816574 G T SNP TAP1 ENST00000354258 human ensembl 69_37n -1 known missense c.1601 p.S534Y 1.000 superfamily_ABC_transptrTM_dom_typ1,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 219 0 0.00 114 14 10.94 - - - TAP1 0 genome.wustl.edu 37 6 32816574 32816574 + Missense_Mutation SNP G G T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 6 32816574 32816574 G T SNP TAP1 ENST00000354258 human ensembl 69_37n -1 known missense c.1601 p.S534Y 1.000 superfamily_ABC_transptrTM_dom_typ1,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 219 0 0.00 176 23 11.56 - - - TCEA1 0 genome.wustl.edu 37 8 54897032 54897032 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 54897032 54897032 C G SNP TCEA1 ENST00000521604 human ensembl 69_37n -1 known missense c.569 p.R190T 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 155 0 0.00 245 55 18.33 - - - TCEA1 0 genome.wustl.edu 37 8 54897032 54897032 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 54897032 54897032 C G SNP TCEA1 ENST00000521604 human ensembl 69_37n -1 known missense c.569 p.R190T 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 155 0 0.00 385 91 19.12 - - - TFDP2 0 genome.wustl.edu 37 3 141671859 141671859 + Splice_Site SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 141671859 141671859 C G SNP TFDP2 ENST00000489671 human ensembl 69_37n -1 known splice_site c.1052-1 e11-1 1.000 - - - no_errors TFDP2 HGNC ENSG00000114126 78 0 0.00 101 29 22.31 - - - TFDP2 0 genome.wustl.edu 37 3 141671859 141671859 + Splice_Site SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 141671859 141671859 C G SNP TFDP2 ENST00000489671 human ensembl 69_37n -1 known splice_site c.1052-1 e11-1 1.000 - - - no_errors TFDP2 HGNC ENSG00000114126 78 0 0.00 64 18 21.95 - - - THSD7A 0 genome.wustl.edu 37 7 11676040 11676040 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 11676040 11676040 C T SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known missense c.739 p.E247K 0.606 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 86 0 0.00 159 32 16.75 - - - THSD7A 0 genome.wustl.edu 37 7 11676040 11676040 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 11676040 11676040 C T SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known missense c.739 p.E247K 0.606 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 86 0 0.00 97 22 18.49 - - - TLL2 0 genome.wustl.edu 37 10 98205902 98205902 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 98205902 98205902 C G SNP TLL2 ENST00000357947 human ensembl 69_37n -1 known missense c.310 p.E104Q 0.038 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 217 0 0.00 163 45 21.63 - - - TLL2 0 genome.wustl.edu 37 10 98205902 98205902 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 98205902 98205902 C G SNP TLL2 ENST00000357947 human ensembl 69_37n -1 known missense c.310 p.E104Q 0.038 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 217 0 0.00 89 29 24.58 - - - TMEM132D 0 genome.wustl.edu 37 12 130015639 130015639 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 130015639 130015639 G A SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known silent c.1080 p.I360 0.030 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 79 0 0.00 47 6 11.32 - - - TMEM132D 0 genome.wustl.edu 37 12 130015639 130015639 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 130015639 130015639 G A SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known silent c.1080 p.I360 0.030 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 79 0 0.00 60 20 25.00 - - - TMEM155 0 genome.wustl.edu 37 4 122682808 122682808 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 122682808 122682808 G A SNP TMEM155 ENST00000337677 human ensembl 69_37n -1 known silent c.97 p.L33 0.090 NULL NULL - no_errors TMEM155 HGNC ENSG00000164112 109 0 0.00 145 49 25.26 - - - TMEM155 0 genome.wustl.edu 37 4 122682808 122682808 + Silent SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 122682808 122682808 G A SNP TMEM155 ENST00000337677 human ensembl 69_37n -1 known silent c.97 p.L33 0.090 NULL NULL - no_errors TMEM155 HGNC ENSG00000164112 109 0 0.00 73 31 29.81 - - - TNIP1 0 genome.wustl.edu 37 5 150439923 150439923 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 150439923 150439923 C T SNP TNIP1 ENST00000315050 human ensembl 69_37n -1 known missense c.391 p.E131K 0.992 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 80 0 0.00 29 11 27.50 - - - TNIP1 0 genome.wustl.edu 37 5 150439923 150439923 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 5 150439923 150439923 C T SNP TNIP1 ENST00000315050 human ensembl 69_37n -1 known missense c.391 p.E131K 0.992 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 80 0 0.00 48 16 25.00 - - - TRIM51 0 genome.wustl.edu 37 11 55653691 55653691 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 55653691 55653691 G A SNP TRIM51 ENST00000449290 human ensembl 69_37n +1 known nonsense c.504 p.W168* 0.117 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 204 0 0.00 166 29 14.87 - - - TRIM51 0 genome.wustl.edu 37 11 55653691 55653691 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 55653691 55653691 G A SNP TRIM51 ENST00000449290 human ensembl 69_37n +1 known nonsense c.504 p.W168* 0.117 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 204 0 0.00 89 17 16.04 - - - TRIP12 0 genome.wustl.edu 37 2 230678948 230678948 + Splice_Site DEL C C - TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 230678948 230678948 C - DEL TRIP12 ENST00000283943 human ensembl 69_37n -1 known splice_site_del c.1680+1 e10+1 1.000 - - - no_errors TRIP12 HGNC ENSG00000153827 85 0 0.00 103 30 22.56 - - - TRIP12 0 genome.wustl.edu 37 2 230678948 230678948 + Splice_Site DEL C C - TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 230678948 230678948 C - DEL TRIP12 ENST00000283943 human ensembl 69_37n -1 known splice_site_del c.1680+1 e10+1 1.000 - - - no_errors TRIP12 HGNC ENSG00000153827 85 0 0.00 60 23 27.71 - - - TRMT6 0 genome.wustl.edu 37 20 5921753 5921753 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 5921753 5921753 C T SNP TRMT6 ENST00000203001 human ensembl 69_37n -1 known silent c.1248 p.E416 0.997 pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 142 0 0.00 124 35 22.01 - - - TRMT6 0 genome.wustl.edu 37 20 5921753 5921753 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 5921753 5921753 C T SNP TRMT6 ENST00000203001 human ensembl 69_37n -1 known silent c.1248 p.E416 0.997 pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 142 0 0.00 70 25 26.32 - - - TRPM8 0 genome.wustl.edu 37 2 234878931 234878931 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 234878931 234878931 C T SNP TRPM8 ENST00000324695 human ensembl 69_37n +1 known missense c.2216 p.S739F 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 273 0 0.00 144 42 22.58 - - - TRPM8 0 genome.wustl.edu 37 2 234878931 234878931 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 234878931 234878931 C T SNP TRPM8 ENST00000324695 human ensembl 69_37n +1 known missense c.2216 p.S739F 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 273 0 0.00 238 64 21.19 - - - TSHZ2 0 genome.wustl.edu 37 20 51872856 51872856 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 51872856 51872856 G A SNP TSHZ2 ENST00000371497 human ensembl 69_37n +1 known missense c.2859 p.M953I 1.000 pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 91 0 0.00 59 15 20.27 - - - TSHZ2 0 genome.wustl.edu 37 20 51872856 51872856 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 51872856 51872856 G A SNP TSHZ2 ENST00000371497 human ensembl 69_37n +1 known missense c.2859 p.M953I 1.000 pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 91 0 0.00 93 25 21.19 - - - TSHZ3 0 genome.wustl.edu 37 19 31768347 31768347 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 31768347 31768347 G C SNP TSHZ3 ENST00000240587 human ensembl 69_37n -1 known silent c.2352 p.V784 0.965 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 88 0 0.00 53 16 23.19 - - - TSHZ3 0 genome.wustl.edu 37 19 31768347 31768347 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 31768347 31768347 G C SNP TSHZ3 ENST00000240587 human ensembl 69_37n -1 known silent c.2352 p.V784 0.965 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 88 0 0.00 85 20 19.05 - - - TTC26 0 genome.wustl.edu 37 7 138865859 138865859 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 138865859 138865859 G C SNP TTC26 ENST00000464848 human ensembl 69_37n +1 known missense c.1334 p.R445T 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC26 HGNC ENSG00000105948 131 0 0.00 100 31 23.66 - - - TTC26 0 genome.wustl.edu 37 7 138865859 138865859 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 138865859 138865859 G C SNP TTC26 ENST00000464848 human ensembl 69_37n +1 known missense c.1334 p.R445T 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC26 HGNC ENSG00000105948 131 0 0.00 175 45 20.45 - - - TTC40 0 genome.wustl.edu 37 10 134751139 134751139 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 134751139 134751139 C T SNP TTC40 ENST00000368582 human ensembl 69_37n -1 known missense c.577 p.E193K 0.998 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 64 0 0.00 42 14 25.00 - - - TTC40 0 genome.wustl.edu 37 10 134751139 134751139 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 134751139 134751139 C T SNP TTC40 ENST00000368582 human ensembl 69_37n -1 known missense c.577 p.E193K 0.998 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 64 0 0.00 66 28 29.79 - - - TTLL9 0 genome.wustl.edu 37 20 30486275 30486275 + Splice_Site SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 30486275 30486275 G A SNP TTLL9 ENST00000375938 human ensembl 69_37n +1 known splice_site c.114-1 e3-1 1.000 - - - no_errors TTLL9 HGNC ENSG00000131044 63 0 0.00 23 5 17.86 - - - TTLL9 0 genome.wustl.edu 37 20 30486275 30486275 + Splice_Site SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 20 30486275 30486275 G A SNP TTLL9 ENST00000375938 human ensembl 69_37n +1 known splice_site c.114-1 e3-1 1.000 - - - no_errors TTLL9 HGNC ENSG00000131044 63 0 0.00 34 13 27.66 - - - TTN 0 genome.wustl.edu 37 2 179497091 179497091 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 179497091 179497091 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.35826 p.E11942D 0.996 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 158 0 0.00 146 46 23.96 - - - TTN 0 genome.wustl.edu 37 2 179497091 179497091 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 179497091 179497091 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.35826 p.E11942D 0.996 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 158 0 0.00 227 61 21.18 - - - TUBD1 0 genome.wustl.edu 37 17 57968254 57968254 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 57968254 57968254 C G SNP TUBD1 ENST00000325752 human ensembl 69_37n -1 known missense c.110 p.R37T 0.988 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 112 0 0.00 150 28 15.73 - - - TUBD1 0 genome.wustl.edu 37 17 57968254 57968254 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 17 57968254 57968254 C G SNP TUBD1 ENST00000325752 human ensembl 69_37n -1 known missense c.110 p.R37T 0.988 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 112 0 0.00 99 18 15.38 - - - UPP2 0 genome.wustl.edu 37 2 158991285 158991285 + Silent SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 158991285 158991285 C G SNP UPP2 ENST00000409859 human ensembl 69_37n +1 known silent c.1008 p.L336 0.004 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 89 0 0.00 37 20 35.09 - - - UPP2 0 genome.wustl.edu 37 2 158991285 158991285 + Silent SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 158991285 158991285 C G SNP UPP2 ENST00000409859 human ensembl 69_37n +1 known silent c.1008 p.L336 0.004 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 89 0 0.00 58 26 30.95 - - - USH2A 0 genome.wustl.edu 37 1 216061968 216061968 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 216061968 216061968 G C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.8023 p.L2675V 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 142 0 0.00 117 29 19.86 - - - USH2A 0 genome.wustl.edu 37 1 216061968 216061968 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 216061968 216061968 G C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.8023 p.L2675V 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 142 0 0.00 188 42 18.18 - - - USP28 0 genome.wustl.edu 37 11 113723334 113723334 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 11 113723334 113723334 G A SNP USP28 ENST00000003302 human ensembl 69_37n -1 known nonsense c.157 p.Q53* 1.000 superfamily_UBA-like pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19 - no_errors USP28 HGNC ENSG00000048028 58 0 0.00 25 12 32.43 - - - UTP20 0 genome.wustl.edu 37 12 101776918 101776918 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 101776918 101776918 G A SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.7756 p.E2586K 0.005 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 175 0 0.00 136 44 24.44 - - - UTP20 0 genome.wustl.edu 37 12 101776918 101776918 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 101776918 101776918 G A SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.7756 p.E2586K 0.005 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 175 0 0.00 92 31 25.20 - - - VAV3 0 genome.wustl.edu 37 1 108303488 108303488 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 108303488 108303488 C G SNP VAV3 ENST00000370056 human ensembl 69_37n -1 known missense c.935 p.R312T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 96 0 0.00 118 30 20.27 - - - VAV3 0 genome.wustl.edu 37 1 108303488 108303488 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 108303488 108303488 C G SNP VAV3 ENST00000370056 human ensembl 69_37n -1 known missense c.935 p.R312T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 96 0 0.00 73 16 17.98 - - - WDFY3 0 genome.wustl.edu 37 4 85638146 85638146 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 85638146 85638146 C G SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known missense c.7778 p.R2593T 0.993 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 82 0 0.00 113 21 15.67 - - - WDFY3 0 genome.wustl.edu 37 4 85638146 85638146 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 4 85638146 85638146 C G SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known missense c.7778 p.R2593T 0.993 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 82 0 0.00 193 42 17.87 - - - WNK3 0 genome.wustl.edu 37 X 54319370 54319370 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 54319370 54319370 G A SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known missense c.1988 p.S663L 0.954 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 188 0 0.00 133 47 26.11 - - - WNK3 0 genome.wustl.edu 37 X 54319370 54319370 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe X 54319370 54319370 G A SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known missense c.1988 p.S663L 0.954 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 188 0 0.00 209 67 24.28 - - - WWP2 0 genome.wustl.edu 37 16 69973789 69973789 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 69973789 69973789 G C SNP WWP2 ENST00000356003 human ensembl 69_37n +1 known silent c.2559 p.L853 0.995 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 41 0 0.00 15 4 21.05 - - - WWP2 0 genome.wustl.edu 37 16 69973789 69973789 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 69973789 69973789 G C SNP WWP2 ENST00000356003 human ensembl 69_37n +1 known silent c.2559 p.L853 0.995 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 41 0 0.00 23 4 14.81 - - - XPO1 0 genome.wustl.edu 37 2 61708356 61708356 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 61708356 61708356 G C SNP XPO1 ENST00000401558 human ensembl 69_37n -1 known missense c.3033 p.F1011L 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 66 0 0.00 133 42 24.00 - - - XPO1 0 genome.wustl.edu 37 2 61708356 61708356 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 61708356 61708356 G C SNP XPO1 ENST00000401558 human ensembl 69_37n -1 known missense c.3033 p.F1011L 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 66 0 0.00 78 26 25.00 - - - XPOT 0 genome.wustl.edu 37 12 64814203 64814203 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 64814203 64814203 G C SNP XPOT ENST00000332707 human ensembl 69_37n +1 known missense c.745 p.E249Q 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 318 0 0.00 221 45 16.92 - - - XPOT 0 genome.wustl.edu 37 12 64814203 64814203 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 12 64814203 64814203 G C SNP XPOT ENST00000332707 human ensembl 69_37n +1 known missense c.745 p.E249Q 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 318 0 0.00 359 58 13.91 - - - YEATS2 0 genome.wustl.edu 37 3 183432996 183432996 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 183432996 183432996 G A SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.46 p.E16K 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 155 0 0.00 137 40 22.60 - - - YEATS2 0 genome.wustl.edu 37 3 183432996 183432996 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 3 183432996 183432996 G A SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.46 p.E16K 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 155 0 0.00 78 27 25.71 - - - ZBTB10 0 genome.wustl.edu 37 8 81412521 81412521 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 81412521 81412521 C G SNP ZBTB10 ENST00000426744 human ensembl 69_37n +1 known missense c.1765 p.P589A 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 57 0 0.00 33 8 19.51 - - - ZBTB10 0 genome.wustl.edu 37 8 81412521 81412521 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 81412521 81412521 C G SNP ZBTB10 ENST00000426744 human ensembl 69_37n +1 known missense c.1765 p.P589A 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 57 0 0.00 49 15 23.44 - - - ZFHX3 0 genome.wustl.edu 37 16 72830257 72830257 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 72830257 72830257 C T SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known silent c.6324 p.Q2108 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 36 0 0.00 7 4 36.36 - - - ZFHX3 0 genome.wustl.edu 37 16 72830257 72830257 + Silent SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 16 72830257 72830257 C T SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known silent c.6324 p.Q2108 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 36 0 0.00 9 5 35.71 - - - ZHX1 0 genome.wustl.edu 37 8 124266322 124266322 + Nonsense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 124266322 124266322 G C SNP ZHX1 ENST00000297857 human ensembl 69_37n -1 known nonsense c.1865 p.S622* 0.638 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 238 0 0.00 288 60 17.24 - - - ZHX1 0 genome.wustl.edu 37 8 124266322 124266322 + Nonsense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 8 124266322 124266322 G C SNP ZHX1 ENST00000297857 human ensembl 69_37n -1 known nonsense c.1865 p.S622* 0.638 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 238 0 0.00 462 94 16.91 - - - ZNF28 0 genome.wustl.edu 37 19 53303801 53303801 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 53303801 53303801 G A SNP ZNF28 ENST00000457749 human ensembl 69_37n -1 known missense c.1297 p.H433Y 0.982 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF28 HGNC ENSG00000198538 126 0 0.00 136 24 15.00 - - - ZNF28 0 genome.wustl.edu 37 19 53303801 53303801 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 53303801 53303801 G A SNP ZNF28 ENST00000457749 human ensembl 69_37n -1 known missense c.1297 p.H433Y 0.982 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF28 HGNC ENSG00000198538 126 0 0.00 221 46 17.23 - - - ZNF283 0 genome.wustl.edu 37 19 44351927 44351927 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 44351927 44351927 C T SNP ZNF283 ENST00000324461 human ensembl 69_37n +1 known nonsense c.1174 p.R392* 0.025 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 166 0 0.00 121 38 23.90 - - - ZNF283 0 genome.wustl.edu 37 19 44351927 44351927 + Nonsense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 44351927 44351927 C T SNP ZNF283 ENST00000324461 human ensembl 69_37n +1 known nonsense c.1174 p.R392* 0.025 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 166 0 0.00 208 62 22.96 - - - ZNF385B 0 genome.wustl.edu 37 2 180634302 180634302 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 180634302 180634302 G A SNP ZNF385B ENST00000410066 human ensembl 69_37n -1 known nonsense c.181 p.R61* 0.985 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 92 0 0.00 15 7 31.82 - - - ZNF385B 0 genome.wustl.edu 37 2 180634302 180634302 + Nonsense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 180634302 180634302 G A SNP ZNF385B ENST00000410066 human ensembl 69_37n -1 known nonsense c.181 p.R61* 0.985 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 92 0 0.00 35 12 25.53 - - - ZNF638 0 genome.wustl.edu 37 2 71576606 71576606 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 71576606 71576606 G C SNP ZNF638 ENST00000264447 human ensembl 69_37n +1 known missense c.522 p.L174F 0.998 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 93 0 0.00 112 30 21.13 - - - ZNF638 0 genome.wustl.edu 37 2 71576606 71576606 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 2 71576606 71576606 G C SNP ZNF638 ENST00000264447 human ensembl 69_37n +1 known missense c.522 p.L174F 0.998 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 93 0 0.00 70 21 23.08 - - - ZNF736 0 genome.wustl.edu 37 7 63797334 63797334 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 63797334 63797334 G A SNP ZNF736 ENST00000355095 human ensembl 69_37n +1 known missense c.200 p.R67K 0.003 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF736 HGNC ENSG00000234444 109 0 0.00 129 39 23.21 - - - ZNF736 0 genome.wustl.edu 37 7 63797334 63797334 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 7 63797334 63797334 G A SNP ZNF736 ENST00000355095 human ensembl 69_37n +1 known missense c.200 p.R67K 0.003 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF736 HGNC ENSG00000234444 109 0 0.00 82 25 23.36 - - - ZNF83 0 genome.wustl.edu 37 19 53116808 53116808 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 53116808 53116808 C T SNP ZNF83 ENST00000301096 human ensembl 69_37n -1 known missense c.1010 p.R337K 0.035 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 94 0 0.00 155 33 17.55 - - - ZNF83 0 genome.wustl.edu 37 19 53116808 53116808 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 19 53116808 53116808 C T SNP ZNF83 ENST00000301096 human ensembl 69_37n -1 known missense c.1010 p.R337K 0.035 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 94 0 0.00 90 19 17.43 - - - ZNHIT6 0 genome.wustl.edu 37 1 86144457 86144457 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 86144457 86144457 C A SNP ZNHIT6 ENST00000370574 human ensembl 69_37n -1 known missense c.1096 p.D366Y 1.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT6 HGNC ENSG00000117174 215 0 0.00 276 62 18.34 - - - ZNHIT6 0 genome.wustl.edu 37 1 86144457 86144457 + Missense_Mutation SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 1 86144457 86144457 C A SNP ZNHIT6 ENST00000370574 human ensembl 69_37n -1 known missense c.1096 p.D366Y 1.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT6 HGNC ENSG00000117174 215 0 0.00 423 93 18.02 - - - ZSCAN2 0 genome.wustl.edu 37 15 85147402 85147402 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 15 85147402 85147402 G A SNP ZSCAN2 ENST00000448803 human ensembl 69_37n +1 known missense c.244 p.E82K 0.982 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 49 0 0.00 7 2 22.22 - - - ZWINT 0 genome.wustl.edu 37 10 58120134 58120134 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 58120134 58120134 C T SNP ZWINT ENST00000373944 human ensembl 69_37n -1 known missense c.52 p.E18K 0.000 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 62 0 0.00 16 3 15.79 - - -