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 ABCB1 0 genome.wustl.edu 37 7 87148737 87148737 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 87148737 87148737 G A SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known silent c.2832 p.F944 0.992 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 43 0 0.00 51 9 15.00 - - - ABCE1 0 genome.wustl.edu 37 4 146031300 146031300 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 4 146031300 146031300 G A SNP ABCE1 ENST00000296577 human ensembl 69_37n +1 known missense c.451 p.E151K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 30 0 0.00 29 8 21.62 - - - ABHD14A 0 genome.wustl.edu 37 3 52011898 52011898 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 52011898 52011898 G C SNP ABHD14A ENST00000273596 human ensembl 69_37n +1 known missense c.81 p.Q27H 0.057 NULL pfam_AB_hydrolase_N - no_errors ABHD14A HGNC ENSG00000248487 26 0 0.00 29 4 12.12 - - - ABT1 0 genome.wustl.edu 37 6 26598833 26598833 + Nonsense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 26598833 26598833 C G SNP ABT1 ENST00000274849 human ensembl 69_37n +1 known nonsense c.779 p.S260* 0.628 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 28 0 0.00 35 7 16.67 - - - ACCSL 0 genome.wustl.edu 37 11 44069628 44069628 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 44069628 44069628 G C SNP ACCSL ENST00000378832 human ensembl 69_37n +1 known missense c.42 p.Q14H 0.074 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors ACCSL HGNC ENSG00000205126 20 0 0.00 27 9 25.00 - - - ADAMTS9 0 genome.wustl.edu 37 3 64554192 64554192 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 64554192 64554192 C T SNP ADAMTS9 ENST00000498707 human ensembl 69_37n -1 known missense c.4376 p.R1459Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS9 HGNC ENSG00000163638 38 0 0.00 40 7 14.89 - - - ADCK1 0 genome.wustl.edu 37 14 78365553 78365553 + Missense_Mutation SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 78365553 78365553 G T SNP ADCK1 ENST00000238561 human ensembl 69_37n +1 known missense c.693 p.R231S 1.000 pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 168 0 0.00 189 37 16.37 - - - ADCY2 0 genome.wustl.edu 37 5 7757647 7757647 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 7757647 7757647 C T SNP ADCY2 ENST00000338316 human ensembl 69_37n +1 known missense c.2042 p.S681F 0.995 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 45 0 0.00 52 8 13.33 - - - ADH5 0 genome.wustl.edu 37 4 99998046 99998046 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 4 99998046 99998046 C T SNP ADH5 ENST00000296412 human ensembl 69_37n -1 known missense c.373 p.D125N 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 41 0 0.00 43 9 17.31 - - - ADRA1A 0 genome.wustl.edu 37 8 26721895 26721895 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 26721895 26721895 C T SNP ADRA1A ENST00000380586 human ensembl 69_37n -1 known missense c.592 p.A198T 0.989 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_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 48 0 0.00 32 20 38.46 - - - AEBP1 0 genome.wustl.edu 37 7 44151612 44151612 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 44151612 44151612 C T SNP AEBP1 ENST00000223357 human ensembl 69_37n +1 known missense c.2000 p.S667L 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 75 0 0.00 87 14 13.86 - - - AGAP2 0 genome.wustl.edu 37 12 58129195 58129195 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 58129195 58129195 C G SNP AGAP2 ENST00000547588 human ensembl 69_37n -1 known missense c.1184 p.S395T 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 38 0 0.00 51 11 17.46 - - - AGBL1 0 genome.wustl.edu 37 15 87097660 87097660 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 87097660 87097660 G A SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known silent c.2748 p.E916 0.998 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 44 0 0.00 40 6 13.04 - - - AGR2 0 genome.wustl.edu 37 7 16834591 16834591 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 16834591 16834591 G A SNP AGR2 ENST00000419572 human ensembl 69_37n -1 known silent c.507 p.L169 1.000 NULL superfamily_Thioredoxin-like_fold - no_errors AGR2 HGNC ENSG00000106541 68 0 0.00 69 13 15.85 - - - AGXT2L2 0 genome.wustl.edu 37 5 177649544 177649544 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 177649544 177649544 C T SNP AGXT2L2 ENST00000308158 human ensembl 69_37n -1 known missense c.739 p.E247K 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC ENSG00000175309 48 0 0.00 72 9 10.98 - - - AIM1 0 genome.wustl.edu 37 6 107016364 107016364 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 107016364 107016364 C G SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.5095 p.Q1699E 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 56 0 0.00 50 9 15.25 - - - AKAP13 0 genome.wustl.edu 37 15 86064806 86064806 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 86064806 86064806 G C SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.181 p.G61R 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 55 0 0.00 48 10 17.24 - - - AKAP17A 0 genome.wustl.edu 37 X 1714352 1714352 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 1714352 1714352 G A SNP AKAP17A ENST00000313871 human ensembl 69_37n +1 known missense c.838 p.E280K 1.000 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 79 0 0.00 124 14 10.14 - - - ALKBH1 0 genome.wustl.edu 37 14 78140451 78140451 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 78140451 78140451 C T SNP ALKBH1 ENST00000216489 human ensembl 69_37n -1 known missense c.874 p.V292I 0.997 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 37 0 0.00 31 10 24.39 - - - ALOXE3 0 genome.wustl.edu 37 17 8012650 8012650 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 8012650 8012650 G A SNP ALOXE3 ENST00000318227 human ensembl 69_37n -1 known silent c.1800 p.I600 0.987 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 71 0 0.00 66 18 21.43 - - - ANKDD1B 0 genome.wustl.edu 37 5 74959223 74959223 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 74959223 74959223 G A SNP ANKDD1B ENST00000504514 human ensembl 69_37n +1 putative missense c.898 p.E300K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - pseudogene:no_stop_codon ANKDD1B HGNC ENSG00000189045 43 0 0.00 30 6 16.67 - - - ANKDD1B 0 genome.wustl.edu 37 5 74959226 74959226 + Missense_Mutation SNP A A G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 74959226 74959226 A G SNP ANKDD1B ENST00000504514 human ensembl 69_37n +1 putative missense c.901 p.R301G 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - pseudogene:no_stop_codon ANKDD1B HGNC ENSG00000189045 42 0 0.00 30 7 18.92 - - - ANKDD1B 0 genome.wustl.edu 37 5 74959231 74959231 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 74959231 74959231 G A SNP ANKDD1B ENST00000504514 human ensembl 69_37n +1 putative silent c.906 p.L302 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - pseudogene:no_stop_codon ANKDD1B HGNC ENSG00000189045 42 0 0.00 28 8 22.22 - - - ANKRD31 0 genome.wustl.edu 37 5 74412437 74412437 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 74412437 74412437 G A SNP ANKRD31 ENST00000274361 human ensembl 69_37n -1 known missense c.3938 p.S1313L 0.429 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD31 HGNC ENSG00000145700 31 0 0.00 34 5 12.82 - - - ANKS6 0 genome.wustl.edu 37 9 101536318 101536318 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 101536318 101536318 C T SNP ANKS6 ENST00000444472 human ensembl 69_37n -1 putative missense c.67 p.E23K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANKS6 HGNC ENSG00000165138 50 0 0.00 46 6 11.54 - - - ANXA1 0 genome.wustl.edu 37 9 75778434 75778434 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 75778434 75778434 G A SNP ANXA1 ENST00000257497 human ensembl 69_37n +1 known missense c.598 p.D200N 1.000 superfamily_Annexin,prints_AnnexinI pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI - no_errors ANXA1 HGNC ENSG00000135046 77 0 0.00 81 14 14.74 - - - AP1B1 0 genome.wustl.edu 37 22 29750804 29750804 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 22 29750804 29750804 G C SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known missense c.773 p.S258C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP1B1 HGNC ENSG00000100280 78 0 0.00 59 16 21.33 - - - APLNR 0 genome.wustl.edu 37 11 57004110 57004110 + Silent SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 57004110 57004110 G C SNP APLNR ENST00000257254 human ensembl 69_37n -1 known silent c.369 p.L123 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_APJ_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors APLNR HGNC ENSG00000134817 52 0 0.00 42 13 23.64 - - - APOL2 0 genome.wustl.edu 37 22 36633125 36633125 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 22 36633125 36633125 G A SNP APOL2 ENST00000451256 human ensembl 69_37n -1 putative missense c.185 p.S62F 0.000 NULL pfam_ApoL - no_errors APOL2 HGNC ENSG00000128335 20 0 0.00 8 9 52.94 - - - ARHGAP39 0 genome.wustl.edu 37 8 145770835 145770835 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 145770835 145770835 C T SNP ARHGAP39 ENST00000377307 human ensembl 69_37n -1 known silent c.2319 p.K773 0.990 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 32 0 0.00 47 12 20.34 - - - ARID2 0 genome.wustl.edu 37 12 46240703 46240703 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 46240703 46240703 G A SNP ARID2 ENST00000334344 human ensembl 69_37n +1 known silent c.1563 p.E521 1.000 pfam_DNA-bd_RFX pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 89 0 0.00 70 9 11.39 - - - ATAD2 0 genome.wustl.edu 37 8 124361560 124361560 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 124361560 124361560 C G SNP ATAD2 ENST00000287394 human ensembl 69_37n -1 known missense c.1771 p.D591H 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 26 0 0.00 37 8 17.78 - - - ATF3 0 genome.wustl.edu 37 1 212788564 212788564 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 212788564 212788564 C T SNP ATF3 ENST00000341491 human ensembl 69_37n +1 known silent c.201 p.V67 0.947 superfamily_Euk_TF_DNA-bd pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors ATF3 HGNC ENSG00000162772 29 0 0.00 57 7 10.94 - - - ATP7B 0 genome.wustl.edu 37 13 52531744 52531744 + Splice_Site SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 52531744 52531744 C G SNP ATP7B ENST00000242839 human ensembl 69_37n -1 known splice_site c.2356-1 e9-1 1.000 - - - no_errors ATP7B HGNC ENSG00000123191 43 0 0.00 41 5 10.87 - - - ATP8B2 0 genome.wustl.edu 37 1 154306644 154306644 + Missense_Mutation SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 154306644 154306644 G T SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known missense c.750 p.W250C 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 47 0 0.00 61 8 11.59 - - - AURKA 0 genome.wustl.edu 37 20 54961556 54961556 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 54961556 54961556 G C SNP AURKA ENST00000312783 human ensembl 69_37n -1 known missense c.76 p.L26V 0.007 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 AURKA HGNC ENSG00000087586 35 0 0.00 45 9 16.67 - - - BAG5 0 genome.wustl.edu 37 14 104027051 104027051 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 104027051 104027051 G A SNP BAG5 ENST00000337322 human ensembl 69_37n -1 known missense c.574 p.H192Y 0.991 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 61 0 0.00 74 14 15.91 - - - BAI2 0 genome.wustl.edu 37 1 32203099 32203099 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 32203099 32203099 C T SNP BAI2 ENST00000373658 human ensembl 69_37n -1 known silent c.2910 p.L970 0.996 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 38 0 0.00 63 9 12.50 - - - BCCIP 0 genome.wustl.edu 37 10 127541804 127541804 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 127541804 127541804 C G SNP BCCIP ENST00000368759 human ensembl 69_37n +1 known missense c.961 p.L321V 0.002 NULL NULL - no_errors BCCIP HGNC ENSG00000107949 30 0 0.00 23 15 39.47 - - - BCL2L11 0 genome.wustl.edu 37 2 111921798 111921798 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 111921798 111921798 G C SNP BCL2L11 ENST00000393256 human ensembl 69_37n +1 known missense c.587 p.R196T 0.998 pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 36 0 0.00 40 6 13.04 - - - BEND7 0 genome.wustl.edu 37 10 13485197 13485197 + RNA SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 13485197 13485197 G C SNP BEND7 ENST00000465276 human ensembl 69_37n -1 known rna NULL NULL 0.937 - - - no_errors BEND7 HGNC ENSG00000165626 30 0 0.00 36 9 20.00 - - - BRCA1 0 genome.wustl.edu 37 17 41234523 41234523 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 41234523 41234523 C T SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known missense c.4255 p.E1419K 0.947 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 76 0 0.00 70 12 14.63 - - - BTN1A1 0 genome.wustl.edu 37 6 26502135 26502135 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 26502135 26502135 G A SNP BTN1A1 ENST00000244513 human ensembl 69_37n +1 known missense c.397 p.E133K 0.000 smart_Ig_sub,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 34 0 0.00 45 9 16.67 - - - BTNL8 0 genome.wustl.edu 37 5 180377136 180377136 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 180377136 180377136 G A SNP BTNL8 ENST00000340184 human ensembl 69_37n +1 known silent c.1095 p.R365 0.018 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL8 HGNC ENSG00000113303 45 0 0.00 36 11 23.40 - - - C14orf177 0 genome.wustl.edu 37 14 99182494 99182494 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 99182494 99182494 G A SNP C14orf177 ENST00000546029 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors C14orf177 HGNC ENSG00000176605 23 0 0.00 26 7 21.21 - - - C1QTNF5 0 genome.wustl.edu 37 11 119215632 119215632 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 119215632 119215632 C T SNP C1QTNF5 ENST00000449574 human ensembl 69_37n -1 known missense c.724 p.E242K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt - no_errors MFRP Clone_based_vega_gene ENSG00000235718 15 0 0.00 18 4 18.18 - - - C6 0 genome.wustl.edu 37 5 41172441 41172441 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 41172441 41172441 C T SNP C6 ENST00000263413 human ensembl 69_37n -1 known missense c.1177 p.E393K 0.973 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 103 0 0.00 118 22 15.71 - - - C7orf34 0 genome.wustl.edu 37 7 142636835 142636835 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 142636835 142636835 G C SNP C7orf34 ENST00000409607 human ensembl 69_37n +1 known missense c.192 p.E64D 0.000 NULL NULL - no_errors C7orf34 HGNC ENSG00000165131 33 0 0.00 22 8 26.67 - - - C9 0 genome.wustl.edu 37 5 39342213 39342213 + Missense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 39342213 39342213 C A SNP C9 ENST00000263408 human ensembl 69_37n -1 known missense c.163 p.D55Y 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C9 HGNC ENSG00000113600 82 0 0.00 105 14 11.76 - - - C9orf106 0 genome.wustl.edu 37 9 132084459 132084459 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 132084459 132084459 C T SNP C9orf106 ENST00000316786 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors C9orf106 HGNC ENSG00000179082 31 0 0.00 31 5 13.89 - - - C9orf172 0 genome.wustl.edu 37 9 139739806 139739806 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 139739806 139739806 G A SNP C9orf172 ENST00000436881 human ensembl 69_37n +1 known missense c.940 p.E314K 0.209 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 47 0 0.00 73 9 10.84 - - - CAAP1 0 genome.wustl.edu 37 9 26892705 26892705 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 26892705 26892705 C T SNP CAAP1 ENST00000333916 human ensembl 69_37n -1 known silent c.9 p.G3 1.000 NULL NULL - no_errors CAAP1 HGNC ENSG00000120159 136 0 0.00 126 20 13.70 - - - CAMSAP2 0 genome.wustl.edu 37 1 200816366 200816366 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 200816366 200816366 C T SNP CAMSAP2 ENST00000236925 human ensembl 69_37n +1 known missense c.1171 p.H391Y 0.988 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 38 0 0.00 47 11 18.97 - - - CAMSAP3 0 genome.wustl.edu 37 19 7681485 7681485 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 7681485 7681485 C G SNP CAMSAP3 ENST00000446248 human ensembl 69_37n +1 known silent c.3270 p.L1090 0.654 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 35 0 0.00 22 8 25.81 - - - CASP8 0 genome.wustl.edu 37 2 202131498 202131498 + Nonsense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 202131498 202131498 C T SNP CASP8 ENST00000358485 human ensembl 69_37n +1 known nonsense c.466 p.Q156* 0.995 superfamily_DEATH-like pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 50 0 0.00 51 10 16.39 - - - CASR 0 genome.wustl.edu 37 3 122003562 122003562 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 122003562 122003562 G A SNP CASR ENST00000498619 human ensembl 69_37n +1 known missense c.2791 p.E931K 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 61 0 0.00 59 9 13.24 - - - CBWD1 0 genome.wustl.edu 37 9 166518 166518 + RNA SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 166518 166518 G C SNP CBWD1 ENST00000487575 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CBWD1 HGNC ENSG00000172785 65 0 0.00 106 16 13.11 - - - CCDC15 0 genome.wustl.edu 37 11 124857539 124857539 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 124857539 124857539 C T SNP CCDC15 ENST00000344762 human ensembl 69_37n +1 known silent c.1417 p.L473 0.006 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 56 0 0.00 64 10 13.51 - - - CCNB3 0 genome.wustl.edu 37 X 50053243 50053243 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 50053243 50053243 G C SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known missense c.2074 p.E692Q 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 46 0 0.00 47 7 12.96 - - - CCT8L2 0 genome.wustl.edu 37 22 17071960 17071960 + Nonsense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 22 17071960 17071960 C T SNP CCT8L2 ENST00000359963 human ensembl 69_37n -1 known nonsense c.1481 p.W494* 0.847 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 105 0 0.00 122 17 12.23 - - - CD47 0 genome.wustl.edu 37 3 107766132 107766132 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 107766132 107766132 C T SNP CD47 ENST00000355354 human ensembl 69_37n -1 known silent c.917 p.*306 0.996 NULL pfam_CD47_Vset,pfam_CD47_TM,pfscan_Ig-like - no_errors CD47 HGNC ENSG00000196776 39 0 0.00 69 9 11.54 - - - CD5 0 genome.wustl.edu 37 11 60890436 60890436 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 60890436 60890436 C T SNP CD5 ENST00000347785 human ensembl 69_37n +1 known missense c.1157 p.A386V 0.872 prints_Tcell_CD5 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Tcell_CD5,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD5 HGNC ENSG00000110448 67 0 0.00 75 12 13.79 - - - CD68 0 genome.wustl.edu 37 17 7483208 7483208 + Splice_Site SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 7483208 7483208 G A SNP CD68 ENST00000380498 human ensembl 69_37n +1 known splice_site c.50-1 e2-1 0.243 - - - no_errors CD68 HGNC ENSG00000129226 60 0 0.00 80 11 11.96 - - - CDC42BPB 0 genome.wustl.edu 37 14 103452869 103452869 + Silent SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 103452869 103452869 G C SNP CDC42BPB ENST00000361246 human ensembl 69_37n -1 known silent c.645 p.R215 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPB HGNC ENSG00000198752 66 0 0.00 54 26 32.50 - - - CDH1 0 genome.wustl.edu 37 16 68845587 68845587 + Missense_Mutation SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 68845587 68845587 G T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known missense c.833 p.G278V 0.997 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 55 0 0.00 43 24 35.82 - - - CDKN1B 0 genome.wustl.edu 37 12 12870831 12870831 + Nonsense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 12870831 12870831 C T SNP CDKN1B ENST00000228872 human ensembl 69_37n +1 known nonsense c.58 p.Q20* 0.997 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 44 0 0.00 57 8 12.31 - - - CDKN1B 0 genome.wustl.edu 37 12 12871194 12871194 + Nonsense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 12871194 12871194 C T SNP CDKN1B ENST00000228872 human ensembl 69_37n +1 known nonsense c.421 p.Q141* 1.000 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 38 0 0.00 44 10 18.52 - - - CELA2B 0 genome.wustl.edu 37 1 15807649 15807649 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 15807649 15807649 G A SNP CELA2B ENST00000375910 human ensembl 69_37n +1 known silent c.186 p.L62 0.991 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 81 0 0.00 83 12 12.63 - - - CELSR2 0 genome.wustl.edu 37 1 109794721 109794721 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 109794721 109794721 G C SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known missense c.2020 p.D674H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 63 0 0.00 79 15 15.96 - - - CELSR2 0 genome.wustl.edu 37 1 109795780 109795780 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 109795780 109795780 G C SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known missense c.3079 p.E1027Q 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 68 0 0.00 63 15 19.23 - - - CEP250 0 genome.wustl.edu 37 20 34054796 34054796 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 34054796 34054796 C T SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known silent c.498 p.F166 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 40 0 0.00 33 7 17.50 - - - CEP350 0 genome.wustl.edu 37 1 180000560 180000560 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 180000560 180000560 C T SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.3656 p.S1219F 0.406 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 28 0 0.00 50 6 10.71 - - - CHL1 0 genome.wustl.edu 37 3 386364 386364 + Missense_Mutation SNP T T A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 386364 386364 T A SNP CHL1 ENST00000256509 human ensembl 69_37n +1 known missense c.820 p.L274M 0.788 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 CHL1 HGNC ENSG00000134121 80 0 0.00 70 15 17.65 - - - CHN1 0 genome.wustl.edu 37 2 175809639 175809639 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 175809639 175809639 G C SNP CHN1 ENST00000409900 human ensembl 69_37n -1 known missense c.91 p.R31G 1.000 pirsf_N-chimaerin pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 32 0 0.00 25 5 16.67 - - - CLIP3 0 genome.wustl.edu 37 19 36515468 36515468 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 36515468 36515468 C T SNP CLIP3 ENST00000360535 human ensembl 69_37n -1 known missense c.748 p.E250K 1.000 NULL pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 18 0 0.00 42 11 20.75 - - - CNTN2 0 genome.wustl.edu 37 1 205030518 205030518 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 205030518 205030518 G A SNP CNTN2 ENST00000331830 human ensembl 69_37n +1 known missense c.943 p.D315N 0.985 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC ENSG00000184144 42 0 0.00 64 9 12.33 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43891708 43891708 + Nonsense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 43891708 43891708 C A SNP CNTNAP3B ENST00000377561 human ensembl 69_37n +1 known nonsense c.2897 p.S966* 0.974 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNTNAP3B HGNC ENSG00000154529 21 0 0.00 25 7 21.88 - - - COBLL1 0 genome.wustl.edu 37 2 165578606 165578606 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 165578606 165578606 C T SNP COBLL1 ENST00000194871 human ensembl 69_37n -1 known missense c.1173 p.M391I 0.024 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 45 0 0.00 39 7 15.22 - - - COL17A1 0 genome.wustl.edu 37 10 105819932 105819932 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 105819932 105819932 G C SNP COL17A1 ENST00000353479 human ensembl 69_37n -1 known missense c.1086 p.I362M 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 81 0 0.00 70 12 14.63 - - - COL6A4P1 0 genome.wustl.edu 37 3 15219625 15219625 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 15219625 15219625 C T SNP COL6A4P1 ENST00000446690 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors COL6A4P1 HGNC ENSG00000230524 63 0 0.00 49 10 16.95 - - - CPXM2 0 genome.wustl.edu 37 10 125521468 125521468 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 125521468 125521468 C T SNP CPXM2 ENST00000241305 human ensembl 69_37n -1 known missense c.1697 p.R566Q 0.995 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 83 0 0.00 57 8 12.31 - - - CSDE1 0 genome.wustl.edu 37 1 115262273 115262273 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 115262273 115262273 C T SNP CSDE1 ENST00000369530 human ensembl 69_37n -1 known missense c.2188 p.D730N 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 44 0 0.00 59 15 20.27 - - - CSPG4P5 0 genome.wustl.edu 37 15 84954363 84954363 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 84954363 84954363 G A SNP CSPG4P5 ENST00000456932 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CSPG4P5 HGNC ENSG00000235370 229 0 0.00 190 32 14.41 - - - CTAGE9 0 genome.wustl.edu 37 6 132031248 132031248 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 132031248 132031248 C T SNP CTAGE9 ENST00000314099 human ensembl 69_37n -1 known missense c.910 p.G304S 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 154 0 0.00 107 34 24.11 - - - CWH43 0 genome.wustl.edu 37 4 48990513 48990513 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 4 48990513 48990513 C G SNP CWH43 ENST00000226432 human ensembl 69_37n +1 known silent c.63 p.L21 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 45 0 0.00 33 9 20.93 - - - CXCL17 0 genome.wustl.edu 37 19 42933115 42933115 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 42933115 42933115 C T SNP CXCL17 ENST00000341918 human ensembl 69_37n -1 known missense c.281 p.R94K 0.295 NULL NULL - no_errors CXCL17 HGNC ENSG00000189377 67 0 0.00 54 12 18.18 - - - CXXC1 0 genome.wustl.edu 37 18 47810867 47810867 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 18 47810867 47810867 C T SNP CXXC1 ENST00000412036 human ensembl 69_37n -1 known silent c.1098 p.E366 0.831 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 57 0 0.00 45 11 19.64 - - - DACH2 0 genome.wustl.edu 37 X 86082772 86082772 + Nonstop_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 86082772 86082772 G C SNP DACH2 ENST00000373131 human ensembl 69_37n +1 known nonstop c.1715 p.*572S 0.996 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 36 0 0.00 40 7 14.89 - - - DAO 0 genome.wustl.edu 37 12 109273444 109273444 + RNA SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 109273444 109273444 C A SNP DAO ENST00000548052 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DAO HGNC ENSG00000110887 66 0 0.00 93 12 11.43 - - - DAXX 0 genome.wustl.edu 37 6 33289225 33289225 + Silent SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 33289225 33289225 G C SNP DAXX ENST00000266000 human ensembl 69_37n -1 known silent c.327 p.L109 0.999 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 22 0 0.00 38 8 17.39 - - - DBH 0 genome.wustl.edu 37 9 136508598 136508598 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 136508598 136508598 G A SNP DBH ENST00000393056 human ensembl 69_37n +1 known missense c.808 p.A270T 0.011 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 65 0 0.00 63 22 25.58 - - - DEPDC1 0 genome.wustl.edu 37 1 68948311 68948311 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 68948311 68948311 C T SNP DEPDC1 ENST00000456315 human ensembl 69_37n -1 known missense c.1180 p.D394N 0.003 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 108 0 0.00 95 17 15.18 - - - DGAT2L6 0 genome.wustl.edu 37 X 69421894 69421894 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 69421894 69421894 G A SNP DGAT2L6 ENST00000333026 human ensembl 69_37n +1 known silent c.627 p.V209 1.000 pfam_DAGAT pfam_DAGAT - no_errors DGAT2L6 HGNC ENSG00000184210 73 0 0.00 81 11 11.96 - - - DGKD 0 genome.wustl.edu 37 2 234350626 234350626 + Nonsense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 234350626 234350626 C A SNP DGKD ENST00000430834 human ensembl 69_37n +1 known nonsense c.161 p.S54* 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DGKD HGNC ENSG00000077044 68 0 0.00 77 15 16.30 - - - DGKI 0 genome.wustl.edu 37 7 137075578 137075578 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 137075578 137075578 G A SNP DGKI ENST00000494390 human ensembl 69_37n -1 known rna NULL NULL 0.804 - - - no_errors DGKI HGNC ENSG00000157680 20 0 0.00 33 7 17.50 - - - DLG2 0 genome.wustl.edu 37 11 84027938 84027938 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 84027938 84027938 G A SNP DLG2 ENST00000280241 human ensembl 69_37n -1 known missense c.251 p.T84M 0.168 pfam_MAGUK_PEST_N,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_Guanylate_kin,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC ENSG00000150672 32 0 0.00 39 8 17.02 - - - DLX5 0 genome.wustl.edu 37 7 96653581 96653581 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 96653581 96653581 C T SNP DLX5 ENST00000222598 human ensembl 69_37n -1 known missense c.355 p.E119K 1.000 NULL pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 83 0 0.00 86 17 16.50 - - - DMD 0 genome.wustl.edu 37 X 32360361 32360361 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 32360361 32360361 C T SNP DMD ENST00000357033 human ensembl 69_37n -1 known silent c.5778 p.L1926 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 56 0 0.00 74 10 11.90 - - - DMRT2 0 genome.wustl.edu 37 9 1057202 1057202 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 1057202 1057202 G A SNP DMRT2 ENST00000302441 human ensembl 69_37n +1 known missense c.1615 p.E539K 1.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 21 0 0.00 32 7 17.95 - - - DNA2 0 genome.wustl.edu 37 10 70179590 70179590 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 70179590 70179590 G C SNP DNA2 ENST00000440722 human ensembl 69_37n -1 putative missense c.721 p.H241D 0.799 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNA2 HGNC ENSG00000138346 69 0 0.00 53 9 14.52 - - - DNAJB4 0 genome.wustl.edu 37 1 78478888 78478888 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 78478888 78478888 C G SNP DNAJB4 ENST00000370763 human ensembl 69_37n +1 known missense c.365 p.S122C 0.110 NULL pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB4 HGNC ENSG00000162616 60 0 0.00 42 10 19.23 - - - DNM2 0 genome.wustl.edu 37 19 10887807 10887807 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 10887807 10887807 C T SNP DNM2 ENST00000314646 human ensembl 69_37n +1 known silent c.603 p.I201 0.727 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC ENSG00000079805 53 0 0.00 69 13 15.85 - - - DUOX1 0 genome.wustl.edu 37 15 45444113 45444113 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 45444113 45444113 G A SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.3056 p.R1019Q 0.952 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 48 0 0.00 41 5 10.87 - - - DUOX2 0 genome.wustl.edu 37 15 45386382 45386382 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 45386382 45386382 C T SNP DUOX2 ENST00000389039 human ensembl 69_37n -1 known missense c.4613 p.R1538Q 0.989 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX2 HGNC ENSG00000140279 73 0 0.00 79 11 12.22 - - - DUSP27 0 genome.wustl.edu 37 1 167097333 167097333 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 167097333 167097333 G A SNP DUSP27 ENST00000271385 human ensembl 69_37n +1 known missense c.2965 p.D989N 0.998 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 29 0 0.00 32 10 23.81 - - - DYX1C1 0 genome.wustl.edu 37 15 55722912 55722912 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 55722912 55722912 C T SNP DYX1C1 ENST00000321149 human ensembl 69_37n -1 known missense c.1219 p.E407K 1.000 NULL pfam_TPR-1,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 68 0 0.00 62 10 13.89 - - - ECD 0 genome.wustl.edu 37 10 74899224 74899224 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 74899224 74899224 G C SNP ECD ENST00000430082 human ensembl 69_37n -1 known missense c.1363 p.Q455E 1.000 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 104 0 0.00 83 16 16.16 - - - ECE2 0 genome.wustl.edu 37 3 183976326 183976326 + Nonsense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 183976326 183976326 C G SNP ECE2 ENST00000324557 human ensembl 69_37n +1 known nonsense c.731 p.S244* 0.984 NULL pfam_Methyltransf_11,pfam_Methyltransf_12 - no_errors ECE2 HGNC ENSG00000145194 36 0 0.00 44 12 21.43 - - - ECI2 0 genome.wustl.edu 37 6 4116138 4116138 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 4116138 4116138 C T SNP ECI2 ENST00000380118 human ensembl 69_37n -1 known silent c.1155 p.V385 0.178 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 47 0 0.00 61 9 12.86 - - - EN2 0 genome.wustl.edu 37 7 155255355 155255355 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 155255355 155255355 C T SNP EN2 ENST00000297375 human ensembl 69_37n +1 known silent c.975 p.A325 0.998 pfam_Homeobox-engrailed_C-terminal pfam_Homeodomain,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeodomain_engrailed,prints_Homeobox_metazoa - no_errors EN2 HGNC ENSG00000164778 53 0 0.00 40 6 13.04 - - - EPHA1 0 genome.wustl.edu 37 7 143096459 143096459 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 143096459 143096459 G C SNP EPHA1 ENST00000275815 human ensembl 69_37n -1 known missense c.883 p.L295V 0.995 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA1 HGNC ENSG00000146904 41 0 0.00 51 7 12.07 - - - ERCC6L 0 genome.wustl.edu 37 X 71428226 71428226 + Nonsense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 71428226 71428226 G A SNP ERCC6L ENST00000334463 human ensembl 69_37n -1 known nonsense c.391 p.Q131* 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 62 0 0.00 61 9 12.86 - - - ESPN 0 genome.wustl.edu 37 1 6505739 6505739 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 6505739 6505739 G C SNP ESPN ENST00000377828 human ensembl 69_37n +1 known missense c.1208 p.R403T 0.001 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 57 0 0.00 73 14 16.09 - - - EXO1 0 genome.wustl.edu 37 1 242048771 242048771 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 242048771 242048771 C G SNP EXO1 ENST00000348581 human ensembl 69_37n +1 known missense c.2367 p.I789M 0.855 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors EXO1 HGNC ENSG00000174371 29 0 0.00 43 7 14.00 - - - F8 0 genome.wustl.edu 37 X 154159467 154159467 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 154159467 154159467 C T SNP F8 ENST00000360256 human ensembl 69_37n -1 known missense c.2598 p.M866I 0.024 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 30 0 0.00 46 7 12.96 - - - FAM129A 0 genome.wustl.edu 37 1 184863324 184863324 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 184863324 184863324 C G SNP FAM129A ENST00000367511 human ensembl 69_37n -1 known missense c.203 p.G68A 0.597 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 27 0 0.00 40 5 11.11 - - - FAM153C 0 genome.wustl.edu 37 5 177434006 177434006 + RNA SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 177434006 177434006 G T SNP FAM153C ENST00000508839 human ensembl 69_37n +1 known rna NULL NULL 0.055 - - - no_errors FAM153C HGNC ENSG00000204677 13 0 0.00 4 7 63.64 - - - FAM189A1 0 genome.wustl.edu 37 15 29488713 29488713 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 29488713 29488713 G A SNP FAM189A1 ENST00000261275 human ensembl 69_37n -1 known missense c.443 p.S148F 0.060 pfam_CD20-like pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 41 0 0.00 34 9 20.93 - - - FAM205A 0 genome.wustl.edu 37 9 34725691 34725691 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 34725691 34725691 G A SNP FAM205A ENST00000378788 human ensembl 69_37n -1 novel silent c.1546 p.L516 0.178 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 55 0 0.00 63 8 11.27 - - - FAM47C 0 genome.wustl.edu 37 X 37028317 37028317 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 37028317 37028317 G A SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.1834 p.E612K 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 111 0 0.00 97 15 13.39 - - - FAM47C 0 genome.wustl.edu 37 X 37028695 37028695 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 37028695 37028695 C T SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.2212 p.L738F 0.386 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 141 0 0.00 142 22 13.41 - - - FAM65C 0 genome.wustl.edu 37 20 49226253 49226253 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 49226253 49226253 C T SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known missense c.433 p.E145K 1.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 21 0 0.00 21 6 22.22 - - - FAM71B 0 genome.wustl.edu 37 5 156592823 156592823 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 156592823 156592823 G A SNP FAM71B ENST00000302938 human ensembl 69_37n -1 known silent c.357 p.L119 1.000 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 54 0 0.00 76 16 17.39 - - - FDPS 0 genome.wustl.edu 37 1 155289532 155289532 + RNA SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 155289532 155289532 C G SNP FDPS ENST00000489324 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FDPS HGNC ENSG00000160752 95 0 0.00 138 17 10.97 - - - FDPS 0 genome.wustl.edu 37 1 155289696 155289696 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 155289696 155289696 C G SNP FDPS ENST00000356657 human ensembl 69_37n +1 known missense c.1036 p.P346A 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 84 0 0.00 152 21 12.14 - - - FGFR2 0 genome.wustl.edu 37 10 123279672 123279672 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 123279672 123279672 G A SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.760 p.H254Y 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 76 0 0.00 56 13 18.84 - - - FJX1 0 genome.wustl.edu 37 11 35641376 35641376 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 35641376 35641376 C T SNP FJX1 ENST00000317811 human ensembl 69_37n +1 known missense c.1192 p.R398C 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 17 0 0.00 12 6 33.33 - - - FLAD1 0 genome.wustl.edu 37 1 154960718 154960718 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 154960718 154960718 C T SNP FLAD1 ENST00000292180 human ensembl 69_37n +1 known silent c.510 p.F170 1.000 pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC ENSG00000160688 71 0 0.00 100 24 19.20 - - - FLJ27352 0 genome.wustl.edu 37 15 55710686 55710686 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 55710686 55710686 G C SNP FLJ27352 ENST00000569691 human ensembl 69_37n +1 novel missense c.284 p.G95A 1.000 NULL NULL - no_errors RP11-178D12.1 Clone_based_vega_gene ENSG00000261652 13 0 0.00 11 4 26.67 - - - FLNC 0 genome.wustl.edu 37 7 128483575 128483575 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 128483575 128483575 G C SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.2755 p.E919Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 13 0 0.00 22 7 24.14 - - - FOXA3 0 genome.wustl.edu 37 19 46375436 46375436 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 46375436 46375436 C G SNP FOXA3 ENST00000302177 human ensembl 69_37n +1 known missense c.173 p.S58C 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 68 0 0.00 61 13 17.57 - - - FSIP2 0 genome.wustl.edu 37 2 186659336 186659336 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 186659336 186659336 G A SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known silent c.7740 p.L2580 0.639 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 15 0 0.00 20 5 20.00 - - - FUK 0 genome.wustl.edu 37 16 70508500 70508500 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 70508500 70508500 G A SNP FUK ENST00000378912 human ensembl 69_37n +1 known silent c.2154 p.V718 1.000 NULL pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 65 0 0.00 63 14 17.95 - - - FZD4 0 genome.wustl.edu 37 11 86662326 86662326 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 86662326 86662326 G A SNP FZD4 ENST00000531380 human ensembl 69_37n -1 known missense c.1472 p.S491L 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 54 0 0.00 50 10 16.67 - - - GAD1 0 genome.wustl.edu 37 2 171702291 171702291 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 171702291 171702291 G A SNP GAD1 ENST00000358196 human ensembl 69_37n +1 known missense c.943 p.E315K 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC ENSG00000128683 43 0 0.00 46 12 20.69 - - - GALNTL5 0 genome.wustl.edu 37 7 151699921 151699921 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 151699921 151699921 G A SNP GALNTL5 ENST00000392800 human ensembl 69_37n +1 known missense c.781 p.D261N 0.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 71 0 0.00 73 13 15.12 - - - GALP 0 genome.wustl.edu 37 19 56688525 56688525 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 56688525 56688525 G A SNP GALP ENST00000357330 human ensembl 69_37n +1 known silent c.48 p.L16 0.734 NULL pfam_Galanin - no_errors GALP HGNC ENSG00000197487 46 0 0.00 55 8 12.70 - - - GALT 0 genome.wustl.edu 37 9 34647847 34647847 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 34647847 34647847 C T SNP GALT ENST00000473506 human ensembl 69_37n +1 known missense c.347 p.T116I 1.000 NULL pfam_GalP_Utransf_N,superfamily_HIT-like - no_errors GALT HGNC ENSG00000213930 100 0 0.00 123 16 11.43 - - - GCFC1 0 genome.wustl.edu 37 21 34133372 34133372 + Nonsense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 21 34133372 34133372 G A SNP GCFC1 ENST00000331923 human ensembl 69_37n -1 known nonsense c.973 p.Q325* 1.000 NULL pfam_GCFC_dom - no_errors GCFC1 HGNC ENSG00000159086 32 0 0.00 42 5 10.64 - - - GGCX 0 genome.wustl.edu 37 2 85777092 85777092 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 85777092 85777092 C T SNP GGCX ENST00000233838 human ensembl 69_37n -1 known missense c.2242 p.E748K 0.184 NULL pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 36 0 0.00 32 4 11.11 - - - GJB1 0 genome.wustl.edu 37 X 70444262 70444262 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 70444262 70444262 C T SNP GJB1 ENST00000361726 human ensembl 69_37n +1 known silent c.705 p.F235 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32 - no_errors GJB1 HGNC ENSG00000169562 112 0 0.00 117 22 15.83 - - - GK-AS1 0 genome.wustl.edu 37 X 30742132 30742132 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 30742132 30742132 G A SNP GK-AS1 ENST00000464659 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors GK-AS1 HGNC ENSG00000243055 26 0 0.00 36 5 12.20 - - - GNAS 0 genome.wustl.edu 37 20 57428833 57428833 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 57428833 57428833 G C SNP GNAS ENST00000371100 human ensembl 69_37n +1 putative missense c.513 p.Q171H 0.409 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 67 0 0.00 62 8 11.43 - - - GNS 0 genome.wustl.edu 37 12 65113890 65113890 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 65113890 65113890 C T SNP GNS ENST00000258145 human ensembl 69_37n -1 known missense c.1492 p.E498K 1.000 superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 63 0 0.00 99 12 10.81 - - - GPC2 0 genome.wustl.edu 37 7 99771588 99771588 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 99771588 99771588 C G SNP GPC2 ENST00000292377 human ensembl 69_37n -1 known silent c.762 p.L254 0.997 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 54 0 0.00 81 11 11.96 - - - GPD1 0 genome.wustl.edu 37 12 50498439 50498439 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 50498439 50498439 G A SNP GPD1 ENST00000301149 human ensembl 69_37n +1 known missense c.124 p.E42K 1.000 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 25 0 0.00 31 4 11.43 - - - GPR108 0 genome.wustl.edu 37 19 6732543 6732543 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 6732543 6732543 G C SNP GPR108 ENST00000264080 human ensembl 69_37n -1 known missense c.951 p.I317M 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors GPR108 HGNC ENSG00000125734 75 0 0.00 98 12 10.91 - - - GPR179 0 genome.wustl.edu 37 17 36485104 36485104 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 36485104 36485104 C T SNP GPR179 ENST00000342292 human ensembl 69_37n -1 known missense c.4348 p.E1450K 0.004 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 46 0 0.00 46 8 14.81 - - - GRHPR 0 genome.wustl.edu 37 9 37429743 37429743 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 37429743 37429743 C T SNP GRHPR ENST00000377824 human ensembl 69_37n +1 known missense c.508 p.R170W 0.997 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420 - no_errors GRHPR HGNC ENSG00000137106 45 0 0.00 39 7 15.22 - - - GRIN2A 0 genome.wustl.edu 37 16 10273974 10273974 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 10273974 10273974 C T SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.295 p.V99M 1.000 NULL pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 73 0 0.00 102 18 15.00 - - - GTF3C4 0 genome.wustl.edu 37 9 135553388 135553388 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 135553388 135553388 G C SNP GTF3C4 ENST00000372146 human ensembl 69_37n +1 known missense c.382 p.E128Q 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 47 0 0.00 54 8 12.90 - - - GYS1 0 genome.wustl.edu 37 19 49494595 49494595 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 49494595 49494595 C T SNP GYS1 ENST00000323798 human ensembl 69_37n -1 known silent c.264 p.K88 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 53 0 0.00 83 18 17.82 - - - GYS1 0 genome.wustl.edu 37 19 49494640 49494640 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 49494640 49494640 C T SNP GYS1 ENST00000323798 human ensembl 69_37n -1 known silent c.219 p.V73 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 63 0 0.00 77 15 16.30 - - - HAGHL 0 genome.wustl.edu 37 16 777579 777579 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 777579 777579 G C SNP HAGHL ENST00000341413 human ensembl 69_37n +1 known missense c.70 p.E24Q 0.326 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors HAGHL HGNC ENSG00000103253 119 0 0.00 138 27 16.36 - - - HEATR6 0 genome.wustl.edu 37 17 58156227 58156227 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 58156227 58156227 C T SNP HEATR6 ENST00000184956 human ensembl 69_37n -1 known missense c.49 p.E17K 0.001 NULL superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 47 0 0.00 41 13 24.07 - - - HENMT1 0 genome.wustl.edu 37 1 109197412 109197412 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 109197412 109197412 G A SNP HENMT1 ENST00000370031 human ensembl 69_37n -1 known silent c.324 p.I108 0.001 NULL NULL - no_errors HENMT1 HGNC ENSG00000162639 34 0 0.00 31 9 22.50 - - - HIF1A 0 genome.wustl.edu 37 14 62162435 62162435 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 62162435 62162435 C T SNP HIF1A ENST00000553999 human ensembl 69_37n +1 known rna NULL NULL 0.082 - - - no_errors HIF1A HGNC ENSG00000100644 25 0 0.00 48 7 12.73 - - - HIST1H2AK 0 genome.wustl.edu 37 6 27806056 27806056 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 27806056 27806056 C T SNP HIST1H2AK ENST00000330180 human ensembl 69_37n -1 known missense c.62 p.R21K 0.339 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 61 0 0.00 74 9 10.84 - - - HIST1H2BG 0 genome.wustl.edu 37 6 26216590 26216590 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 26216590 26216590 C T SNP HIST1H2BG ENST00000244601 human ensembl 69_37n -1 known silent c.282 p.E94 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BG HGNC ENSG00000187990 78 0 0.00 110 19 14.73 - - - HIST1H3B 0 genome.wustl.edu 37 6 26032115 26032115 + Silent SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 26032115 26032115 C A SNP HIST1H3B ENST00000244661 human ensembl 69_37n -1 known silent c.174 p.S58 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 75 0 0.00 87 19 17.92 - - - HLA-J 0 genome.wustl.edu 37 6 29974674 29974674 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 29974674 29974674 C T SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.996 - - - no_errors HLA-J HGNC ENSG00000204622 69 0 0.00 114 17 12.98 - - - HOXB2 0 genome.wustl.edu 37 17 46620887 46620887 + Missense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 46620887 46620887 C A SNP HOXB2 ENST00000330070 human ensembl 69_37n -1 known missense c.614 p.R205L 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HOXB2 HGNC ENSG00000173917 39 0 0.00 24 5 17.24 - - - HSPA12A 0 genome.wustl.edu 37 10 118435994 118435994 + Missense_Mutation SNP A A T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 118435994 118435994 A T SNP HSPA12A ENST00000369209 human ensembl 69_37n -1 known missense c.1306 p.S436T 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 39 0 0.00 31 14 29.79 - - - HSPA8 0 genome.wustl.edu 37 11 122931861 122931861 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 122931861 122931861 G C SNP HSPA8 ENST00000534624 human ensembl 69_37n -1 known missense c.172 p.Q58E 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 36 0 0.00 40 9 18.37 - - - HSPB9 0 genome.wustl.edu 37 17 40275312 40275312 + Silent SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 40275312 40275312 G T SNP HSPB9 ENST00000355067 human ensembl 69_37n +1 known silent c.444 p.G148 0.000 NULL pfam_Hsp20,superfamily_HSP20-like_chaperone,pfscan_Hsp20 - no_errors HSPB9 HGNC ENSG00000197723 22 0 0.00 27 7 20.59 - - - IARS 0 genome.wustl.edu 37 9 95013095 95013095 + Missense_Mutation SNP T T C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 95013095 95013095 T C SNP IARS ENST00000375643 human ensembl 69_37n -1 known missense c.2329 p.T777A 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS HGNC ENSG00000196305 47 0 0.00 32 14 30.43 - - - ICOS 0 genome.wustl.edu 37 2 204820495 204820495 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 204820495 204820495 C G SNP ICOS ENST00000316386 human ensembl 69_37n +1 known silent c.195 p.L65 0.637 NULL NULL - no_errors ICOS HGNC ENSG00000163600 47 0 0.00 49 6 10.91 - - - INSRR 0 genome.wustl.edu 37 1 156819150 156819150 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 156819150 156819150 G A SNP INSRR ENST00000368195 human ensembl 69_37n -1 known silent c.1332 p.F444 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 29 0 0.00 73 12 14.12 - - - INTS7 0 genome.wustl.edu 37 1 212141900 212141900 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 212141900 212141900 C T SNP INTS7 ENST00000366994 human ensembl 69_37n -1 known missense c.1965 p.M655I 1.000 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 68 0 0.00 79 13 14.13 - - - INVS 0 genome.wustl.edu 37 9 103055193 103055193 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 103055193 103055193 C T SNP INVS ENST00000262457 human ensembl 69_37n +1 known missense c.2654 p.S885F 0.723 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 91 0 0.00 84 10 10.64 - - - IPO11 0 genome.wustl.edu 37 5 61923315 61923315 + RNA SNP A A G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 61923315 61923315 A G SNP IPO11 ENST00000512177 human ensembl 69_37n +1 known rna NULL NULL 0.855 - - - no_errors IPO11 HGNC ENSG00000086200 23 0 0.00 17 5 22.73 - - - IRF2BPL 0 genome.wustl.edu 37 14 77492728 77492728 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 77492728 77492728 C G SNP IRF2BPL ENST00000238647 human ensembl 69_37n -1 known missense c.1408 p.D470H 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 34 0 0.00 47 8 14.55 - - - ITPR1 0 genome.wustl.edu 37 3 4776888 4776888 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 4776888 4776888 G A SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known missense c.5349 p.M1783I 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 62 0 0.00 60 17 22.08 - - - KANK2 0 genome.wustl.edu 37 19 11287291 11287291 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 11287291 11287291 C T SNP KANK2 ENST00000432929 human ensembl 69_37n -1 known missense c.1747 p.E583K 0.192 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 53 0 0.00 49 15 23.44 - - - KANSL1 0 genome.wustl.edu 37 17 44116048 44116048 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 44116048 44116048 C T SNP KANSL1 ENST00000262419 human ensembl 69_37n -1 known silent c.2397 p.L799 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 117 0 0.00 95 16 14.41 - - - KANSL1 0 genome.wustl.edu 37 17 44116427 44116427 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 44116427 44116427 C T SNP KANSL1 ENST00000262419 human ensembl 69_37n -1 known missense c.2358 p.M786I 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 107 0 0.00 75 11 12.79 - - - KCNH7 0 genome.wustl.edu 37 2 163291988 163291988 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 163291988 163291988 G A SNP KCNH7 ENST00000332142 human ensembl 69_37n -1 known silent c.1674 p.I558 0.979 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 51 0 0.00 35 6 14.63 - - - KCNK3 0 genome.wustl.edu 37 2 26950898 26950898 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 26950898 26950898 C T SNP KCNK3 ENST00000302909 human ensembl 69_37n +1 known missense c.647 p.T216M 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK1 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK1,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 45 0 0.00 37 10 21.28 - - - KCNT1 0 genome.wustl.edu 37 9 138669256 138669256 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 138669256 138669256 G A SNP KCNT1 ENST00000298480 human ensembl 69_37n +1 known missense c.2422 p.E808K 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 44 0 0.00 62 10 13.89 - - - KDM3B 0 genome.wustl.edu 37 5 137761226 137761226 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 137761226 137761226 G A SNP KDM3B ENST00000314358 human ensembl 69_37n +1 known missense c.4366 p.D1456N 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 76 0 0.00 94 12 11.32 - - - KIAA0100 0 genome.wustl.edu 37 17 26966443 26966443 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 26966443 26966443 C G SNP KIAA0100 ENST00000005905 human ensembl 69_37n -1 known silent c.1119 p.L373 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 56 0 0.00 65 21 24.42 - - - KIAA0284 0 genome.wustl.edu 37 14 105355912 105355912 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 105355912 105355912 C T SNP KIAA0284 ENST00000453495 human ensembl 69_37n +1 known missense c.3803 p.S1268F 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors KIAA0284 HGNC ENSG00000099814 93 0 0.00 103 22 17.60 - - - KIAA0319L 0 genome.wustl.edu 37 1 35916036 35916036 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 35916036 35916036 C T SNP KIAA0319L ENST00000325722 human ensembl 69_37n -1 known missense c.2137 p.D713N 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 53 0 0.00 40 13 24.53 - - - KIAA0586 0 genome.wustl.edu 37 14 58934473 58934473 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 58934473 58934473 G A SNP KIAA0586 ENST00000556134 human ensembl 69_37n +1 known missense c.2230 p.D744N 1.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 41 0 0.00 26 5 16.13 - - - KIAA2018 0 genome.wustl.edu 37 3 113376553 113376553 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 113376553 113376553 C G SNP KIAA2018 ENST00000316407 human ensembl 69_37n -1 known missense c.3976 p.D1326H 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors KIAA2018 HGNC ENSG00000176542 57 0 0.00 72 10 12.20 - - - KIF20B 0 genome.wustl.edu 37 10 91518585 91518585 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 91518585 91518585 G A SNP KIF20B ENST00000416354 human ensembl 69_37n +1 known silent c.4716 p.Q1572 0.967 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 31 0 0.00 28 4 12.50 - - - KIRREL2 0 genome.wustl.edu 37 19 36353838 36353838 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 36353838 36353838 C G SNP KIRREL2 ENST00000360202 human ensembl 69_37n +1 known missense c.1625 p.S542C 0.962 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC ENSG00000126259 24 0 0.00 47 11 18.97 - - - KLHL24 0 genome.wustl.edu 37 3 183368615 183368615 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 183368615 183368615 G C SNP KLHL24 ENST00000242810 human ensembl 69_37n +1 known missense c.471 p.K157N 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 25 0 0.00 27 4 12.90 - - - KPRP 0 genome.wustl.edu 37 1 152733174 152733174 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 152733174 152733174 G A SNP KPRP ENST00000368773 human ensembl 69_37n +1 known silent c.1110 p.L370 0.614 NULL NULL - no_errors KPRP HGNC ENSG00000203786 49 0 0.00 60 12 16.67 - - - KRT25 0 genome.wustl.edu 37 17 38911249 38911249 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 38911249 38911249 G C SNP KRT25 ENST00000312150 human ensembl 69_37n -1 known missense c.275 p.S92C 0.960 pfam_F pfam_F,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 119 0 0.00 86 15 14.85 - - - KRT36 0 genome.wustl.edu 37 17 39645670 39645670 + Silent SNP A A G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 39645670 39645670 A G SNP KRT36 ENST00000328119 human ensembl 69_37n -1 known silent c.447 p.D149 0.065 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 73 0 0.00 67 10 12.99 - - - KRTAP21-2 0 genome.wustl.edu 37 21 32119357 32119357 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 21 32119357 32119357 G A SNP KRTAP21-2 ENST00000333892 human ensembl 69_37n -1 known missense c.164 p.S55F 0.004 pfam_KRTAP pfam_KRTAP - no_errors KRTAP21-2 HGNC ENSG00000187026 87 0 0.00 69 21 23.33 - - - L3MBTL2 0 genome.wustl.edu 37 22 41621831 41621831 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 22 41621831 41621831 G C SNP L3MBTL2 ENST00000216237 human ensembl 69_37n +1 known missense c.1390 p.D464H 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 48 0 0.00 56 12 17.65 - - - L3MBTL2 0 genome.wustl.edu 37 22 41621914 41621914 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 22 41621914 41621914 G C SNP L3MBTL2 ENST00000216237 human ensembl 69_37n +1 known missense c.1473 p.Q491H 0.992 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 49 0 0.00 67 21 23.86 - - - LINC00238 0 genome.wustl.edu 37 14 66958842 66958842 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 66958842 66958842 G A SNP LINC00238 ENST00000359454 human ensembl 69_37n +1 known rna NULL NULL 0.706 - - - no_errors LINC00238 HGNC ENSG00000196553 34 0 0.00 42 8 16.00 - - - LMBRD2 0 genome.wustl.edu 37 5 36105264 36105264 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 36105264 36105264 C T SNP LMBRD2 ENST00000296603 human ensembl 69_37n -1 known missense c.1933 p.E645K 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD2 HGNC ENSG00000164187 72 0 0.00 82 13 13.68 - - - LPP 0 genome.wustl.edu 37 3 188326971 188326971 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 188326971 188326971 C G SNP LPP ENST00000312675 human ensembl 69_37n +1 known missense c.452 p.S151C 0.999 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 31 0 0.00 28 5 14.71 - - - LRP1B 0 genome.wustl.edu 37 2 141253250 141253250 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 141253250 141253250 G A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known missense c.8918 p.S2973F 0.998 superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 72 0 0.00 67 12 15.19 - - - LTBP4 0 genome.wustl.edu 37 19 41105378 41105378 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 41105378 41105378 G A SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known missense c.257 p.R86Q 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 47 0 0.00 39 6 13.33 - - - LY9 0 genome.wustl.edu 37 1 160783497 160783497 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 160783497 160783497 C G SNP LY9 ENST00000263285 human ensembl 69_37n +1 known missense c.526 p.L176V 0.303 pfscan_Ig-like smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC ENSG00000122224 40 0 0.00 47 8 14.55 - - - LYPD2 0 genome.wustl.edu 37 8 143833840 143833840 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 143833840 143833840 C T SNP LYPD2 ENST00000359228 human ensembl 69_37n -1 known silent c.30 p.A10 0.021 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD2 HGNC ENSG00000197353 107 0 0.00 77 48 38.40 - - - MAB21L1 0 genome.wustl.edu 37 13 36049917 36049917 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 36049917 36049917 G A SNP MAB21L1 ENST00000379919 human ensembl 69_37n -1 known missense c.359 p.S120F 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 34 0 0.00 39 7 15.22 - - - MACROD2 0 genome.wustl.edu 37 20 14032577 14032577 + RNA SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 14032577 14032577 C G SNP MACROD2 ENST00000462552 human ensembl 69_37n +1 known rna NULL NULL 0.995 - - - no_errors MACROD2 HGNC ENSG00000172264 74 0 0.00 78 20 20.41 - - - MAGEA8 0 genome.wustl.edu 37 X 149014002 149014002 + Nonstop_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 149014002 149014002 G C SNP MAGEA8 ENST00000286482 human ensembl 69_37n +1 known nonstop c.956 p.*319S 0.001 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 130 0 0.00 153 27 15.00 - - - MAGIX 0 genome.wustl.edu 37 X 49022629 49022629 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 49022629 49022629 C T SNP MAGIX ENST00000412696 human ensembl 69_37n +1 known missense c.896 p.S299F 0.978 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 45 0 0.00 40 7 14.89 - - - MAP2 0 genome.wustl.edu 37 2 210557365 210557365 + Silent SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 210557365 210557365 G C SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known silent c.471 p.S157 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 62 0 0.00 62 17 21.52 - - - MAP2K1 0 genome.wustl.edu 37 15 66781598 66781598 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 66781598 66781598 G C SNP MAP2K1 ENST00000307102 human ensembl 69_37n +1 known missense c.1006 p.D336H 1.000 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_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 MAP2K1 HGNC ENSG00000169032 35 0 0.00 33 7 17.50 - - - MAP7D2 0 genome.wustl.edu 37 X 20030534 20030534 + Missense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 20030534 20030534 C A SNP MAP7D2 ENST00000379643 human ensembl 69_37n -1 known missense c.2005 p.D669Y 1.000 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 59 0 0.00 79 10 11.24 - - - MAS1 0 genome.wustl.edu 37 6 160328584 160328584 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 160328584 160328584 C T SNP MAS1 ENST00000252660 human ensembl 69_37n +1 known silent c.597 p.F199 0.912 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mas_TM,prints_7TM_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 20 0 0.00 31 8 20.51 - - - MBD3 0 genome.wustl.edu 37 19 1592612 1592612 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 1592612 1592612 C T SNP MBD3 ENST00000156825 human ensembl 69_37n -1 known missense c.19 p.E7K 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 9 0 0.00 5 4 44.44 - - - MCM3AP 0 genome.wustl.edu 37 21 47697514 47697514 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 21 47697514 47697514 C T SNP MCM3AP ENST00000291688 human ensembl 69_37n -1 known silent c.1785 p.L595 0.339 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 101 0 0.00 76 10 11.63 - - - MDGA2 0 genome.wustl.edu 37 14 47324259 47324259 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 47324259 47324259 G A SNP MDGA2 ENST00000399232 human ensembl 69_37n -1 known missense c.2851 p.H951Y 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 51 0 0.00 48 7 12.73 - - - MED14 0 genome.wustl.edu 37 X 40573051 40573051 + Nonsense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 40573051 40573051 G A SNP MED14 ENST00000324817 human ensembl 69_37n -1 known nonsense c.631 p.Q211* 1.000 pfam_Mediator_Med14 pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 53 0 0.00 63 8 11.27 - - - MED16 0 genome.wustl.edu 37 19 881682 881682 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 881682 881682 G A SNP MED16 ENST00000325464 human ensembl 69_37n -1 known missense c.1018 p.R340W 1.000 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 73 0 0.00 93 18 16.22 - - - MED25 0 genome.wustl.edu 37 19 50321680 50321680 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 50321680 50321680 C G SNP MED25 ENST00000312865 human ensembl 69_37n +1 known missense c.82 p.L28V 1.000 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 52 0 0.00 58 13 18.31 - - - MED25 0 genome.wustl.edu 37 19 50335408 50335408 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 50335408 50335408 G A SNP MED25 ENST00000312865 human ensembl 69_37n +1 known silent c.1368 p.Q456 1.000 pfam_Mediator_Med25 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 27 0 0.00 50 6 10.71 - - - MEGF10 0 genome.wustl.edu 37 5 126778807 126778807 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 126778807 126778807 G C SNP MEGF10 ENST00000274473 human ensembl 69_37n +1 known missense c.2480 p.R827T 0.971 pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 98 0 0.00 86 16 15.69 - - - MEPCE 0 genome.wustl.edu 37 7 100029166 100029166 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 100029166 100029166 G A SNP MEPCE ENST00000310512 human ensembl 69_37n +1 known missense c.1525 p.E509K 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 28 0 0.00 44 5 10.20 - - - METTL22 0 genome.wustl.edu 37 16 8722830 8722830 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 8722830 8722830 G C SNP METTL22 ENST00000381920 human ensembl 69_37n +1 known missense c.377 p.R126T 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 20 0 0.00 29 6 17.14 - - - MFAP1 0 genome.wustl.edu 37 15 44106742 44106742 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 44106742 44106742 C T SNP MFAP1 ENST00000267812 human ensembl 69_37n -1 known missense c.574 p.E192K 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 52 0 0.00 56 14 20.00 - - - MFAP1 0 genome.wustl.edu 37 15 44106757 44106757 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 44106757 44106757 C G SNP MFAP1 ENST00000267812 human ensembl 69_37n -1 known missense c.559 p.E187Q 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 53 0 0.00 48 12 19.67 - - - MIR3180-5 0 genome.wustl.edu 37 16 2186044 2186044 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 2186044 2186044 C T SNP MIR3180-5 ENST00000583743 human ensembl 69_37n -1 known rna NULL NULL 0.537 - - - no_errors MIR3180-5 HGNC ENSG00000264397 8 0 0.00 2 4 66.67 - - - MIR4268 0 genome.wustl.edu 37 2 220771269 220771269 + RNA SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 220771269 220771269 C G SNP MIR4268 ENST00000581624 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR4268 HGNC ENSG00000266518 52 0 0.00 31 12 27.91 - - - MSH4 0 genome.wustl.edu 37 1 76349502 76349502 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 76349502 76349502 G A SNP MSH4 ENST00000263187 human ensembl 69_37n +1 known silent c.2103 p.Q701 0.998 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 53 0 0.00 49 6 10.71 - - - MTPN 0 genome.wustl.edu 37 7 135661842 135661842 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 135661842 135661842 C T SNP MTPN ENST00000393085 human ensembl 69_37n -1 known missense c.7 p.D3N 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors MTPN HGNC ENSG00000105887 63 0 0.00 80 11 12.09 - - - MUC16 0 genome.wustl.edu 37 19 9033260 9033260 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 9033260 9033260 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.36366 p.L12122 0.002 pfam_SEA,smart_SEA,pfscan_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 59 0 0.00 53 10 15.62 - - - MUC17 0 genome.wustl.edu 37 7 100684537 100684537 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 100684537 100684537 C T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.9840 p.S3280 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 114 0 0.00 126 25 16.56 - - - MUC3A 0 genome.wustl.edu 37 7 100551848 100551848 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 100551848 100551848 C T SNP MUC3A ENST00000319509 human ensembl 69_37n +1 known missense c.599 p.S200L 0.000 NULL pfam_SEA,smart_EGF-like,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_start_codon MUC3A HGNC ENSG00000169894 101 0 0.00 127 15 10.56 - - - MXRA5 0 genome.wustl.edu 37 X 3229058 3229058 + Nonsense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 3229058 3229058 G A SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known nonsense c.7186 p.Q2396* 0.005 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 56 0 0.00 61 12 16.44 - - - MYH10 0 genome.wustl.edu 37 17 8395802 8395802 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 8395802 8395802 G C SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.4454 p.S1485C 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 35 0 0.00 37 5 11.90 - - - MYH4 0 genome.wustl.edu 37 17 10355546 10355546 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 10355546 10355546 G A SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known silent c.3450 p.I1150 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 69 0 0.00 73 12 13.95 - - - MYO18A 0 genome.wustl.edu 37 17 27401804 27401804 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 27401804 27401804 G A SNP MYO18A ENST00000354329 human ensembl 69_37n -1 known missense c.6149 p.T2050M 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 79 0 0.00 78 13 14.29 - - - MYSM1 0 genome.wustl.edu 37 1 59127121 59127121 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 59127121 59127121 C T SNP MYSM1 ENST00000472487 human ensembl 69_37n -1 known missense c.2227 p.E743K 1.000 NULL pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 33 0 0.00 43 5 10.42 - - - N4BP3 0 genome.wustl.edu 37 5 177548700 177548700 + Missense_Mutation SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 177548700 177548700 G T SNP N4BP3 ENST00000274605 human ensembl 69_37n +1 known missense c.1333 p.D445Y 0.698 pfam_Fez1 pfam_Fez1 - no_errors N4BP3 HGNC ENSG00000145911 9 0 0.00 21 5 19.23 - - - NAA35 0 genome.wustl.edu 37 9 88632435 88632435 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 88632435 88632435 C T SNP NAA35 ENST00000361671 human ensembl 69_37n +1 known silent c.1728 p.I576 1.000 NULL pfam_NatC_AcTrfase_Mak10 - no_errors NAA35 HGNC ENSG00000135040 76 0 0.00 90 23 20.00 - - - NARS 0 genome.wustl.edu 37 18 55269589 55269589 + Nonsense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 18 55269589 55269589 G A SNP NARS ENST00000256854 human ensembl 69_37n -1 known nonsense c.1513 p.Q505* 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-synth_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-synth_IIb - no_errors NARS HGNC ENSG00000134440 21 0 0.00 16 5 23.81 - - - NBPF4 0 genome.wustl.edu 37 1 108766295 108766295 + RNA SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 108766295 108766295 C G SNP NBPF4 ENST00000487594 human ensembl 69_37n -1 known rna NULL NULL 0.005 - - - no_errors NBPF4 HGNC ENSG00000196427 85 0 0.00 99 12 10.81 - - - NCOA2 0 genome.wustl.edu 37 8 71068636 71068636 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 71068636 71068636 G A SNP NCOA2 ENST00000452400 human ensembl 69_37n -1 known missense c.1964 p.S655L 0.990 pfam_SRC-1,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA2 HGNC ENSG00000140396 64 0 0.00 68 13 16.05 - - - NECAB1 0 genome.wustl.edu 37 8 91804137 91804137 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 91804137 91804137 C T SNP NECAB1 ENST00000417640 human ensembl 69_37n +1 known missense c.23 p.S8L 0.998 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC ENSG00000123119 57 0 0.00 28 7 20.00 - - - NFATC1 0 genome.wustl.edu 37 18 77227491 77227491 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 18 77227491 77227491 G C SNP NFATC1 ENST00000427363 human ensembl 69_37n +1 known missense c.2001 p.R667S 0.991 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD - no_errors NFATC1 HGNC ENSG00000131196 94 0 0.00 74 10 11.90 - - - NIPAL3 0 genome.wustl.edu 37 1 24792493 24792493 + Splice_Site SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 24792493 24792493 G C SNP NIPAL3 ENST00000339255 human ensembl 69_37n +1 known splice_site c.1022-1 e11-1 0.002 - - - no_errors NIPAL3 HGNC ENSG00000001461 34 0 0.00 47 8 14.55 - - - NIPAL4 0 genome.wustl.edu 37 5 156887500 156887500 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 156887500 156887500 C T SNP NIPAL4 ENST00000519946 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors NIPAL4 HGNC ENSG00000172548 45 0 0.00 51 9 15.00 - - - NLRP1 0 genome.wustl.edu 37 17 5487160 5487160 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 5487160 5487160 C T SNP NLRP1 ENST00000572272 human ensembl 69_37n -1 known missense c.118 p.E40K 0.000 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 47 0 0.00 53 8 13.11 - - - NME4 0 genome.wustl.edu 37 16 449629 449629 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 449629 449629 C T SNP NME4 ENST00000444498 human ensembl 69_37n +1 known silent c.330 p.V110 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME4 HGNC ENSG00000103202 40 0 0.00 72 16 18.18 - - - NMT2 0 genome.wustl.edu 37 10 15145310 15145310 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 15145310 15145310 C T SNP NMT2 ENST00000466201 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors NMT2 HGNC ENSG00000152465 21 0 0.00 22 6 21.43 - - - NPBWR1 0 genome.wustl.edu 37 8 53853333 53853333 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 53853333 53853333 C T SNP NPBWR1 ENST00000331251 human ensembl 69_37n +1 known missense c.866 p.S289F 1.000 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_Neuropept_W_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 141 0 0.00 70 16 18.60 - - - NRG1 0 genome.wustl.edu 37 8 32406297 32406297 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 32406297 32406297 G A SNP NRG1 ENST00000338921 human ensembl 69_37n +1 known missense c.53 p.R18Q 0.288 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EGF-like,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 43 0 0.00 20 4 16.67 - - - NT5M 0 genome.wustl.edu 37 17 17250283 17250283 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 17250283 17250283 C T SNP NT5M ENST00000446264 human ensembl 69_37n +1 novel silent c.705 p.S235 0.000 NULL pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 41 0 0.00 51 7 12.07 - - - NUP188 0 genome.wustl.edu 37 9 131768563 131768563 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 131768563 131768563 C T SNP NUP188 ENST00000372577 human ensembl 69_37n +1 known silent c.4989 p.I1663 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 67 0 0.00 103 12 10.43 - - - NWD1 0 genome.wustl.edu 37 19 16902356 16902356 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 16902356 16902356 G C SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known missense c.3136 p.E1046Q 0.240 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 25 0 0.00 35 5 12.50 - - - ODF2L 0 genome.wustl.edu 37 1 86848880 86848880 + Splice_Site SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 86848880 86848880 C T SNP ODF2L ENST00000317336 human ensembl 69_37n -1 known splice_site c.373-1 e4-1 0.124 - - - no_errors ODF2L HGNC ENSG00000122417 31 0 0.00 44 9 16.67 - - - OLFM1 0 genome.wustl.edu 37 9 138011559 138011559 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 138011559 138011559 C G SNP OLFM1 ENST00000371793 human ensembl 69_37n +1 known silent c.993 p.L331 0.999 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 27 0 0.00 47 8 14.55 - - - OR2W5 0 genome.wustl.edu 37 1 247655180 247655180 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 247655180 247655180 C T SNP OR2W5 ENST00000522351 human ensembl 69_37n +1 known rna NULL NULL 0.946 - - - no_errors OR2W5 HGNC ENSG00000203664 62 0 0.00 100 16 13.79 - - - OR51Q1 0 genome.wustl.edu 37 11 5444150 5444150 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 5444150 5444150 C G SNP OR51Q1 ENST00000300778 human ensembl 69_37n +1 known silent c.720 p.L240 0.997 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 61 0 0.00 57 10 14.93 - - - OR52I2 0 genome.wustl.edu 37 11 4608426 4608426 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 4608426 4608426 C T SNP OR52I2 ENST00000312614 human ensembl 69_37n +1 known silent c.384 p.F128 0.348 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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 OR52I2 HGNC ENSG00000226288 139 0 0.00 101 18 15.13 - - - OR5H2 0 genome.wustl.edu 37 3 98002001 98002001 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 98002001 98002001 C T SNP OR5H2 ENST00000355273 human ensembl 69_37n +1 known silent c.270 p.F90 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H2 HGNC ENSG00000197938 58 0 0.00 54 8 12.90 - - - OR5L1 0 genome.wustl.edu 37 11 55579224 55579224 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 55579224 55579224 C T SNP OR5L1 ENST00000333973 human ensembl 69_37n +1 known silent c.282 p.F94 0.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5L1 HGNC ENSG00000186117 175 0 0.00 121 23 15.97 - - - OR6B2 0 genome.wustl.edu 37 2 240969292 240969292 + Silent SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 240969292 240969292 G C SNP OR6B2 ENST00000402971 human ensembl 69_37n -1 known silent c.555 p.L185 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 49 0 0.00 55 12 17.91 - - - OR6X1 0 genome.wustl.edu 37 11 123624915 123624915 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 123624915 123624915 G A SNP OR6X1 ENST00000327930 human ensembl 69_37n -1 known silent c.312 p.F104 0.195 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 82 0 0.00 94 16 14.55 - - - OR7E24 0 genome.wustl.edu 37 19 9361812 9361812 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 9361812 9361812 C T SNP OR7E24 ENST00000456448 human ensembl 69_37n +1 known silent c.93 p.L31 0.622 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 49 0 0.00 58 7 10.77 - - - OTOGL 0 genome.wustl.edu 37 12 80712466 80712466 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 80712466 80712466 C G SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known missense c.3748 p.P1250A 1.000 pfam_AbfB,superfamily_AbfB pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 34 0 0.00 29 4 12.12 - - - PAPPA 0 genome.wustl.edu 37 9 118950121 118950121 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 118950121 118950121 G A SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known silent c.1104 p.P368 0.005 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 51 0 0.00 51 8 13.56 - - - PBX2P1 0 genome.wustl.edu 37 3 142895584 142895584 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 142895584 142895584 C T SNP PBX2P1 ENST00000560287 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors PBX2P1 HGNC ENSG00000244171 133 0 0.00 102 36 26.09 - - - PCCA 0 genome.wustl.edu 37 13 101182391 101182391 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 101182391 101182391 G A SNP PCCA ENST00000376285 human ensembl 69_37n +1 known missense c.2158 p.E720K 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 54 0 0.00 48 6 11.11 - - - PCCB 0 genome.wustl.edu 37 3 136012615 136012615 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 136012615 136012615 C T SNP PCCB ENST00000251654 human ensembl 69_37n +1 known silent c.672 p.F224 0.996 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 56 0 0.00 47 13 21.67 - - - PCDHB1 0 genome.wustl.edu 37 5 140433360 140433360 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 140433360 140433360 C T SNP PCDHB1 ENST00000306549 human ensembl 69_37n +1 known missense c.2305 p.R769C 0.402 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 59 0 0.00 50 16 24.24 - - - PCDHB11 0 genome.wustl.edu 37 5 140581362 140581362 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 140581362 140581362 C T SNP PCDHB11 ENST00000354757 human ensembl 69_37n +1 known missense c.2015 p.P672L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 178 0 0.00 149 32 17.68 - - - PCDHGB4 0 genome.wustl.edu 37 5 140769580 140769580 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 140769580 140769580 C T SNP PCDHGB4 ENST00000519479 human ensembl 69_37n +1 known missense c.2129 p.A710V 0.054 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 68 0 0.00 78 9 10.34 - - - PCDHGB7 0 genome.wustl.edu 37 5 140799815 140799815 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 140799815 140799815 G C SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known missense c.2389 p.E797Q 0.034 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 42 0 0.00 64 11 14.67 - - - PCGF6 0 genome.wustl.edu 37 10 105108721 105108721 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 105108721 105108721 G C SNP PCGF6 ENST00000369847 human ensembl 69_37n -1 known missense c.396 p.I132M 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC ENSG00000156374 37 0 0.00 25 11 30.56 - - - PDLIM5 0 genome.wustl.edu 37 4 95444938 95444938 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 4 95444938 95444938 G C SNP PDLIM5 ENST00000317968 human ensembl 69_37n +1 known missense c.160 p.D54H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 29 0 0.00 39 6 13.33 - - - PEA15 0 genome.wustl.edu 37 1 160183238 160183238 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 160183238 160183238 G A SNP PEA15 ENST00000368076 human ensembl 69_37n +1 known missense c.418 p.E140K 1.000 superfamily_DEATH-like pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors PEA15 HGNC ENSG00000162734 34 0 0.00 32 10 23.81 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 59 0 0.00 55 14 20.29 - - - PIP4K2C 0 genome.wustl.edu 37 12 57987892 57987892 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 57987892 57987892 C T SNP PIP4K2C ENST00000354947 human ensembl 69_37n +1 known missense c.259 p.H87Y 1.000 smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2C HGNC ENSG00000166908 49 0 0.00 60 14 18.92 - - - PLCB2 0 genome.wustl.edu 37 15 40590496 40590496 + Missense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 40590496 40590496 C A SNP PLCB2 ENST00000260402 human ensembl 69_37n -1 known missense c.1083 p.W361C 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 60 0 0.00 67 13 16.25 - - - PLCG2 0 genome.wustl.edu 37 16 81934351 81934351 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 81934351 81934351 C T SNP PLCG2 ENST00000359376 human ensembl 69_37n +1 known missense c.1328 p.S443L 0.998 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCG2 HGNC ENSG00000197943 69 0 0.00 67 9 11.84 - - - PLCH2 0 genome.wustl.edu 37 1 2435866 2435866 + Nonsense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 2435866 2435866 C G SNP PLCH2 ENST00000419816 human ensembl 69_37n +1 known nonsense c.1349 p.S450* 1.000 NULL pfam_C2_Ca-dep,pfam_PLipase_C_Pinositol-sp_Y,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_Pinositol-sp_Y - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLCH2 HGNC ENSG00000149527 120 0 0.00 134 22 14.10 - - - PLCXD2 0 genome.wustl.edu 37 3 111439652 111439652 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 111439652 111439652 G A SNP PLCXD2 ENST00000472215 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors PLCXD2 HGNC ENSG00000240891 60 0 0.00 84 17 16.83 - - - PLK3 0 genome.wustl.edu 37 1 45271370 45271370 + RNA SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 45271370 45271370 G C SNP PLK3 ENST00000465443 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PLK3 HGNC ENSG00000173846 64 0 0.00 80 9 10.11 - - - PLS1 0 genome.wustl.edu 37 3 142402873 142402873 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 142402873 142402873 C G SNP PLS1 ENST00000337777 human ensembl 69_37n +1 known missense c.605 p.S202C 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC ENSG00000120756 34 0 0.00 50 14 21.88 - - - PMS2CL 0 genome.wustl.edu 37 7 6776865 6776865 + RNA SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 6776865 6776865 C G SNP PMS2CL ENST00000486256 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors PMS2CL HGNC ENSG00000187953 119 0 0.00 132 22 14.29 - - - POLE4 0 genome.wustl.edu 37 2 75196697 75196697 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 75196697 75196697 C T SNP POLE4 ENST00000233699 human ensembl 69_37n +1 known rna NULL NULL 0.069 - - - no_errors POLE4 HGNC ENSG00000115350 50 0 0.00 38 5 11.63 - - - POLR1A 0 genome.wustl.edu 37 2 86265851 86265851 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 86265851 86265851 C T SNP POLR1A ENST00000263857 human ensembl 69_37n -1 known missense c.4006 p.E1336K 0.001 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 62 0 0.00 74 9 10.84 - - - POLR2D 0 genome.wustl.edu 37 2 128605577 128605577 + RNA SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 128605577 128605577 C G SNP POLR2D ENST00000487079 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors POLR2D HGNC ENSG00000144231 41 0 0.00 47 12 20.34 - - - POLR3F 0 genome.wustl.edu 37 20 18448047 18448047 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 18448047 18448047 C T SNP POLR3F ENST00000462997 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors POLR3F HGNC ENSG00000132664 52 0 0.00 70 15 17.65 - - - POM121 0 genome.wustl.edu 37 7 72400518 72400518 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 72400518 72400518 G A SNP POM121 ENST00000434423 human ensembl 69_37n +1 known missense c.1144 p.D382N 0.992 NULL NULL - no_errors POM121 HGNC ENSG00000196313 34 0 0.00 33 13 28.26 - - - POPDC3 0 genome.wustl.edu 37 6 105609709 105609709 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 105609709 105609709 C T SNP POPDC3 ENST00000254765 human ensembl 69_37n -1 known missense c.76 p.E26K 1.000 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 39 0 0.00 16 4 20.00 - - - POSTN 0 genome.wustl.edu 37 13 38145546 38145546 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 38145546 38145546 C T SNP POSTN ENST00000379747 human ensembl 69_37n -1 known silent c.2139 p.L713 0.494 pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 90 0 0.00 78 14 15.22 - - - PPARG 0 genome.wustl.edu 37 3 12434121 12434121 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 12434121 12434121 C G SNP PPARG ENST00000287820 human ensembl 69_37n +1 known missense c.489 p.F163L 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 68 0 0.00 68 12 15.00 - - - PPID 0 genome.wustl.edu 37 4 159636499 159636499 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 4 159636499 159636499 G A SNP PPID ENST00000307720 human ensembl 69_37n -1 known silent c.702 p.F234 1.000 smart_TPR_repeat pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 33 0 0.00 35 8 18.60 - - - PPP1R9A 0 genome.wustl.edu 37 7 94879487 94879487 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 94879487 94879487 C G SNP PPP1R9A ENST00000289495 human ensembl 69_37n +1 known silent c.2250 p.L750 0.997 superfamily_Smac_DIABLO-like pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 44 0 0.00 36 5 12.20 - - - PPP2CA 0 genome.wustl.edu 37 5 133541618 133541618 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 133541618 133541618 G A SNP PPP2CA ENST00000481195 human ensembl 69_37n -1 known missense c.307 p.L103F 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CA HGNC ENSG00000113575 32 0 0.00 41 5 10.87 - - - PRCC 0 genome.wustl.edu 37 1 156737729 156737729 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 156737729 156737729 C G SNP PRCC ENST00000271526 human ensembl 69_37n +1 known missense c.166 p.Q56E 1.000 NULL pfam_PRCC_C - no_errors PRCC HGNC ENSG00000143294 30 0 0.00 47 8 14.55 - - - PREX2 0 genome.wustl.edu 37 8 68982077 68982077 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 68982077 68982077 G A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.1451 p.R484K 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 84 0 0.00 55 13 19.12 - - - PRPF39 0 genome.wustl.edu 37 14 45564611 45564611 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 45564611 45564611 G C SNP PRPF39 ENST00000355765 human ensembl 69_37n +1 known missense c.169 p.E57Q 1.000 NULL smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 28 0 0.00 25 6 19.35 - - - PRUNE2 0 genome.wustl.edu 37 9 79438433 79438433 + RNA SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 79438433 79438433 C G SNP PRUNE2 ENST00000492157 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PRUNE2 HGNC ENSG00000106772 37 0 0.00 25 9 26.47 - - - PSMD3 0 genome.wustl.edu 37 17 38146170 38146170 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 38146170 38146170 C T SNP PSMD3 ENST00000264639 human ensembl 69_37n +1 known missense c.865 p.L289F 1.000 smart_PAM pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 36 0 0.00 34 8 19.05 - - - PTAR1 0 genome.wustl.edu 37 9 72333321 72333321 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 72333321 72333321 C T SNP PTAR1 ENST00000415701 human ensembl 69_37n -1 novel missense c.442 p.E148K 0.995 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PTAR1 HGNC ENSG00000188647 81 0 0.00 131 15 10.27 - - - PTPRG 0 genome.wustl.edu 37 3 62118323 62118323 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 62118323 62118323 G C SNP PTPRG ENST00000474889 human ensembl 69_37n +1 known missense c.663 p.L221F 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 103 0 0.00 89 18 16.82 - - - PTPRG 0 genome.wustl.edu 37 3 62189284 62189284 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 62189284 62189284 G C SNP PTPRG ENST00000474889 human ensembl 69_37n +1 known missense c.1815 p.K605N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 30 0 0.00 25 4 13.79 - - - PTPRR 0 genome.wustl.edu 37 12 71054753 71054753 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 71054753 71054753 G A SNP PTPRR ENST00000283228 human ensembl 69_37n -1 known missense c.1733 p.S578F 0.718 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 67 0 0.00 51 10 16.39 - - - RAD51 0 genome.wustl.edu 37 15 41023451 41023451 + RNA SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 41023451 41023451 C G SNP RAD51 ENST00000530766 human ensembl 69_37n +1 known rna NULL NULL 0.016 - - - no_errors RAD51 HGNC ENSG00000051180 20 0 0.00 29 7 19.44 - - - RAD54B 0 genome.wustl.edu 37 8 95416366 95416366 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 95416366 95416366 G A SNP RAD54B ENST00000336148 human ensembl 69_37n -1 known missense c.883 p.H295Y 0.992 smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 54 0 0.00 47 9 16.07 - - - RALGPS1 0 genome.wustl.edu 37 9 129796710 129796710 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 129796710 129796710 G C SNP RALGPS1 ENST00000259351 human ensembl 69_37n +1 known missense c.217 p.E73Q 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 55 0 0.00 85 13 13.27 - - - RANGRF 0 genome.wustl.edu 37 17 8193159 8193159 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 8193159 8193159 G A SNP RANGRF ENST00000226105 human ensembl 69_37n +1 known missense c.466 p.E156K 0.953 superfamily_Mog1/PsbP/DUF1795_a/b/a-sand pfam_Mog1,superfamily_Mog1/PsbP/DUF1795_a/b/a-sand - no_errors RANGRF HGNC ENSG00000108961 27 0 0.00 31 10 24.39 - - - RASGRF1 0 genome.wustl.edu 37 15 79382571 79382571 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 79382571 79382571 C G SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known missense c.270 p.E90D 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 86 0 0.00 99 20 16.81 - - - RBM44 0 genome.wustl.edu 37 2 238742663 238742663 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 238742663 238742663 G C SNP RBM44 ENST00000316997 human ensembl 69_37n +1 known missense c.2913 p.Q971H 0.016 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 46 0 0.00 39 8 17.02 - - - RBM44 0 genome.wustl.edu 37 2 238742667 238742667 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 238742667 238742667 G A SNP RBM44 ENST00000316997 human ensembl 69_37n +1 known missense c.2917 p.E973K 0.007 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 45 0 0.00 39 8 17.02 - - - RERE 0 genome.wustl.edu 37 1 8424175 8424175 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 8424175 8424175 C T SNP RERE ENST00000337907 human ensembl 69_37n -1 known missense c.1681 p.E561K 1.000 NULL pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 79 0 0.00 75 13 14.77 - - - RGAG1 0 genome.wustl.edu 37 X 109695735 109695735 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 109695735 109695735 G C SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.1890 p.E630D 0.002 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 28 0 0.00 43 5 10.42 - - - RGS6 0 genome.wustl.edu 37 14 72961968 72961968 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 72961968 72961968 G A SNP RGS6 ENST00000553525 human ensembl 69_37n +1 known missense c.963 p.M321I 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS6 HGNC ENSG00000182732 112 0 0.00 105 16 13.22 - - - RGS7 0 genome.wustl.edu 37 1 240969544 240969544 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 240969544 240969544 G A SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known silent c.1165 p.L389 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,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 50 0 0.00 50 8 13.79 - - - RNF180 0 genome.wustl.edu 37 5 63626151 63626151 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 63626151 63626151 G C SNP RNF180 ENST00000389100 human ensembl 69_37n +1 known missense c.1497 p.L499F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 38 0 0.00 58 12 16.90 - - - RNPEPL1 0 genome.wustl.edu 37 2 241513987 241513987 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 241513987 241513987 G C SNP RNPEPL1 ENST00000270357 human ensembl 69_37n +1 known missense c.537 p.Q179H 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 36 0 0.00 41 20 32.79 - - - ROCK2 0 genome.wustl.edu 37 2 11348448 11348448 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 11348448 11348448 C G SNP ROCK2 ENST00000315872 human ensembl 69_37n -1 known missense c.2329 p.E777Q 1.000 pirsf_Rho-assoc_coiled-coil_kinase pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC ENSG00000134318 26 0 0.00 35 7 16.67 - - - RPGR 0 genome.wustl.edu 37 X 38146013 38146013 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 38146013 38146013 C G SNP RPGR ENST00000378505 human ensembl 69_37n -1 known missense c.2239 p.E747Q 0.089 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 106 0 0.00 97 11 10.19 - - - RPL3L 0 genome.wustl.edu 37 16 2004125 2004125 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 2004125 2004125 G A SNP RPL3L ENST00000268661 human ensembl 69_37n -1 known missense c.28 p.R10W 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel - no_errors RPL3L HGNC ENSG00000140986 42 0 0.00 78 20 20.41 - - - RPS6KA6 0 genome.wustl.edu 37 X 83389807 83389807 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 83389807 83389807 C T SNP RPS6KA6 ENST00000262752 human ensembl 69_37n -1 known missense c.629 p.G210E 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC ENSG00000072133 111 0 0.00 102 20 16.39 - - - RPSA 0 genome.wustl.edu 37 3 39448480 39448480 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 39448480 39448480 C G SNP RPSA ENST00000444512 human ensembl 69_37n +1 known silent c.162 p.L54 0.001 NULL NULL - no_errors RPSA HGNC ENSG00000168028 67 0 0.00 52 12 18.75 - - - RRP8 0 genome.wustl.edu 37 11 6621412 6621412 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 6621412 6621412 G A SNP RRP8 ENST00000254605 human ensembl 69_37n -1 known silent c.1335 p.G445 1.000 pfam_Methyltransferase-rel pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 56 0 0.00 52 10 16.13 - - - RSRC2 0 genome.wustl.edu 37 12 123001881 123001881 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 123001881 123001881 C T SNP RSRC2 ENST00000526560 human ensembl 69_37n -1 putative missense c.176 p.R59Q 0.970 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region RSRC2 HGNC ENSG00000111011 127 0 0.00 154 22 12.50 - - - SAG 0 genome.wustl.edu 37 2 234255501 234255501 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 234255501 234255501 G A SNP SAG ENST00000409110 human ensembl 69_37n +1 known silent c.1161 p.L387 1.000 superfamily_Ig_E-set,prints_Arrestin pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 91 0 0.00 88 24 21.43 - - - SAPCD2 0 genome.wustl.edu 37 9 139960064 139960064 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 139960064 139960064 C G SNP SAPCD2 ENST00000409687 human ensembl 69_37n -1 known missense c.741 p.E247D 1.000 NULL NULL - no_errors SAPCD2 HGNC ENSG00000186193 37 0 0.00 85 10 10.53 - - - SAPCD2 0 genome.wustl.edu 37 9 139960099 139960099 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 139960099 139960099 C G SNP SAPCD2 ENST00000409687 human ensembl 69_37n -1 known missense c.706 p.E236Q 1.000 NULL NULL - no_errors SAPCD2 HGNC ENSG00000186193 36 0 0.00 74 9 10.84 - - - SASH1 0 genome.wustl.edu 37 6 148664318 148664318 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 148664318 148664318 G A SNP SASH1 ENST00000367467 human ensembl 69_37n +1 known missense c.115 p.E39K 0.895 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 44 0 0.00 33 9 21.43 - - - SASH1 0 genome.wustl.edu 37 6 148865467 148865467 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 148865467 148865467 G A SNP SASH1 ENST00000367467 human ensembl 69_37n +1 known missense c.2861 p.G954E 0.998 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 24 0 0.00 28 6 17.65 - - - SBNO2 0 genome.wustl.edu 37 19 1119982 1119982 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 1119982 1119982 G C SNP SBNO2 ENST00000361757 human ensembl 69_37n -1 known missense c.1190 p.S397C 1.000 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 47 0 0.00 72 10 12.20 - - - SEC22A 0 genome.wustl.edu 37 3 122928120 122928120 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 122928120 122928120 C T SNP SEC22A ENST00000309934 human ensembl 69_37n +1 known missense c.56 p.S19F 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22A HGNC ENSG00000121542 47 0 0.00 36 16 30.77 - - - SEC23B 0 genome.wustl.edu 37 20 18523792 18523792 + Nonsense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 18523792 18523792 G A SNP SEC23B ENST00000262544 human ensembl 69_37n +1 known nonsense c.1641 p.W547* 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 34 0 0.00 53 8 13.11 - - - SENP7 0 genome.wustl.edu 37 3 101212728 101212728 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 101212728 101212728 G C SNP SENP7 ENST00000394095 human ensembl 69_37n -1 known missense c.175 p.L59V 0.995 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 47 0 0.00 31 6 16.22 - - - SEPHS2 0 genome.wustl.edu 37 16 30456500 30456500 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 30456500 30456500 C G SNP SEPHS2 ENST00000542752 human ensembl 69_37n -1 known missense c.378 p.M126I 0.997 pfam_AIR_synth,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C,pfam_AIR_synth,superfamily_AIR_synth_C,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 57 0 0.00 93 19 16.96 - - - SERTAD1 0 genome.wustl.edu 37 19 40928882 40928882 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 40928882 40928882 G A SNP SERTAD1 ENST00000357949 human ensembl 69_37n -1 known missense c.572 p.S191F 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD1 HGNC ENSG00000197019 63 0 0.00 71 13 15.48 - - - SETD2 0 genome.wustl.edu 37 3 47103760 47103760 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 47103760 47103760 C T SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known silent c.6186 p.E2062 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 113 0 0.00 111 14 11.20 - - - SETD7 0 genome.wustl.edu 37 4 140444559 140444559 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 4 140444559 140444559 G A SNP SETD7 ENST00000274031 human ensembl 69_37n -1 known missense c.593 p.S198L 1.000 pirsf_Hist-Lys_N-MeTrfase_SET pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom - no_errors SETD7 HGNC ENSG00000145391 19 0 0.00 17 7 29.17 - - - SH3BGRL 0 genome.wustl.edu 37 X 80532647 80532647 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 80532647 80532647 C T SNP SH3BGRL ENST00000373212 human ensembl 69_37n +1 known silent c.210 p.F70 1.000 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL HGNC ENSG00000131171 45 0 0.00 58 11 15.94 - - - SH3BP5 0 genome.wustl.edu 37 3 15300422 15300422 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 15300422 15300422 G A SNP SH3BP5 ENST00000383791 human ensembl 69_37n -1 known missense c.805 p.R269W 1.000 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5 HGNC ENSG00000131370 53 0 0.00 47 9 16.07 - - - SI 0 genome.wustl.edu 37 3 164700809 164700809 + Missense_Mutation SNP A A T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 164700809 164700809 A T SNP SI ENST00000264382 human ensembl 69_37n -1 known missense c.5228 p.V1743E 0.027 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 47 0 0.00 42 12 22.22 - - - SLC17A6 0 genome.wustl.edu 37 11 22396411 22396411 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 22396411 22396411 G A SNP SLC17A6 ENST00000263160 human ensembl 69_37n +1 known silent c.1152 p.V384 0.996 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 56 0 0.00 44 6 12.00 - - - SLC2A1 0 genome.wustl.edu 37 1 43392841 43392841 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 43392841 43392841 G A SNP SLC2A1 ENST00000426263 human ensembl 69_37n -1 known silent c.1350 p.F450 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 65 0 0.00 57 9 13.64 - - - SLC30A4 0 genome.wustl.edu 37 15 45783004 45783004 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 45783004 45783004 C G SNP SLC30A4 ENST00000261867 human ensembl 69_37n -1 known missense c.614 p.R205T 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 37 0 0.00 41 6 12.77 - - - SLC30A5 0 genome.wustl.edu 37 5 68419223 68419223 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 68419223 68419223 G A SNP SLC30A5 ENST00000396591 human ensembl 69_37n +1 known missense c.1969 p.E657K 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 28 0 0.00 50 8 13.79 - - - SLC35A1 0 genome.wustl.edu 37 6 88221297 88221297 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 88221297 88221297 G A SNP SLC35A1 ENST00000464978 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SLC35A1 HGNC ENSG00000164414 34 0 0.00 46 8 14.81 - - - SLC35B2 0 genome.wustl.edu 37 6 44224149 44224149 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 44224149 44224149 C T SNP SLC35B2 ENST00000393812 human ensembl 69_37n -1 known missense c.290 p.R97Q 0.529 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 55 0 0.00 68 9 11.69 - - - SLC39A12 0 genome.wustl.edu 37 10 18284605 18284605 + Missense_Mutation SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 18284605 18284605 G T SNP SLC39A12 ENST00000377369 human ensembl 69_37n +1 known missense c.1554 p.Q518H 0.987 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 35 0 0.00 28 4 12.50 - - - SLC7A8 0 genome.wustl.edu 37 14 23607216 23607216 + Silent SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 23607216 23607216 G C SNP SLC7A8 ENST00000316902 human ensembl 69_37n -1 known silent c.930 p.L310 0.993 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A8 HGNC ENSG00000092068 25 0 0.00 16 6 27.27 - - - SLITRK1 0 genome.wustl.edu 37 13 84453559 84453559 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 84453559 84453559 G A SNP SLITRK1 ENST00000377084 human ensembl 69_37n -1 known missense c.2084 p.S695L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 40 0 0.00 28 4 12.50 - - - SMARCC1 0 genome.wustl.edu 37 3 47629740 47629740 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 47629740 47629740 G C SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known missense c.3277 p.P1093A 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 68 0 0.00 84 14 14.29 - - - SMG5 0 genome.wustl.edu 37 1 156235970 156235970 + Nonsense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 156235970 156235970 G C SNP SMG5 ENST00000361813 human ensembl 69_37n -1 known nonsense c.1457 p.S486* 0.995 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 56 0 0.00 85 19 18.27 - - - SNAI3 0 genome.wustl.edu 37 16 88747983 88747983 + Silent SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 88747983 88747983 G C SNP SNAI3 ENST00000332281 human ensembl 69_37n -1 known silent c.216 p.L72 0.867 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 43 0 0.00 61 24 28.24 - - - SNAI3 0 genome.wustl.edu 37 16 88748011 88748011 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 88748011 88748011 G C SNP SNAI3 ENST00000332281 human ensembl 69_37n -1 known missense c.188 p.S63W 0.195 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 38 0 0.00 35 21 37.50 - - - SPINK1 0 genome.wustl.edu 37 5 147204248 147204248 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 147204248 147204248 G A SNP SPINK1 ENST00000296695 human ensembl 69_37n -1 known silent c.216 p.L72 0.916 pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal,prints_Prot_inh_Kazal-m - no_errors SPINK1 HGNC ENSG00000164266 12 0 0.00 17 4 19.05 - - - SRSF2 0 genome.wustl.edu 37 17 74733140 74733140 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 74733140 74733140 C G SNP SRSF2 ENST00000359995 human ensembl 69_37n -1 known missense c.103 p.E35Q 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 100 0 0.00 76 16 17.39 - - - SSC5D 0 genome.wustl.edu 37 19 56029595 56029595 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 56029595 56029595 G A SNP SSC5D ENST00000389623 human ensembl 69_37n +1 known missense c.3952 p.D1318N 0.005 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 51 0 0.00 77 10 11.49 - - - STAG1 0 genome.wustl.edu 37 3 136192453 136192453 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 136192453 136192453 C G SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.1053 p.L351F 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 24 0 0.00 22 4 15.38 - - - STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808393 48808393 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 48808393 48808393 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 69_37n +1 known silent c.621 p.F207 0.003 NULL pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 23 0 0.00 35 5 12.50 - - - STUB1 0 genome.wustl.edu 37 16 732207 732207 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 732207 732207 G C SNP STUB1 ENST00000219548 human ensembl 69_37n +1 known missense c.712 p.E238Q 1.000 pfam_Ubox_domain,smart_Ubox_domain pfam_Ubox_domain,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC ENSG00000103266 74 0 0.00 96 23 19.33 - - - SUV39H1 0 genome.wustl.edu 37 X 48565975 48565975 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 X 48565975 48565975 G A SNP SUV39H1 ENST00000482260 human ensembl 69_37n +1 known rna NULL NULL 0.579 - - - no_errors SUV39H1 HGNC ENSG00000101945 84 0 0.00 106 12 10.17 - - - SWI5 0 genome.wustl.edu 37 9 131038977 131038977 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 131038977 131038977 C T SNP SWI5 ENST00000320188 human ensembl 69_37n +1 known silent c.369 p.F123 0.756 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 51 0 0.00 81 18 18.18 - - - SYNE1 0 genome.wustl.edu 37 6 152576056 152576056 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 152576056 152576056 G A SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.19429 p.H6477Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 66 0 0.00 35 8 18.60 - - - SYNE3 0 genome.wustl.edu 37 14 95903285 95903285 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 95903285 95903285 C T SNP SYNE3 ENST00000334258 human ensembl 69_37n -1 known missense c.2410 p.E804K 0.033 superfamily_Retrov_capsid_C pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 53 0 0.00 54 8 12.90 - - - TAF2 0 genome.wustl.edu 37 8 120816164 120816164 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 120816164 120816164 C T SNP TAF2 ENST00000378164 human ensembl 69_37n -1 known missense c.514 p.E172K 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 62 0 0.00 46 6 11.54 - - - TAF4 0 genome.wustl.edu 37 20 60528535 60528535 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 60528535 60528535 C T SNP TAF4 ENST00000474089 human ensembl 69_37n -1 known rna NULL NULL 0.019 - - - no_errors TAF4 HGNC ENSG00000130699 20 0 0.00 40 13 24.53 - - - TAP1 0 genome.wustl.edu 37 6 32813494 32813494 + Silent SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 32813494 32813494 G C SNP TAP1 ENST00000354258 human ensembl 69_37n -1 known silent c.2289 p.L763 0.905 smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,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 53 0 0.00 78 14 15.22 - - - TARBP1 0 genome.wustl.edu 37 1 234556513 234556513 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 234556513 234556513 G C SNP TARBP1 ENST00000040877 human ensembl 69_37n -1 known missense c.3490 p.L1164V 0.707 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 32 0 0.00 32 6 15.79 - - - TBC1D4 0 genome.wustl.edu 37 13 75930355 75930355 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 75930355 75930355 G A SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known silent c.1203 p.I401 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 39 0 0.00 21 3 12.50 - - - TFAP4 0 genome.wustl.edu 37 16 4322736 4322736 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 4322736 4322736 G C SNP TFAP4 ENST00000204517 human ensembl 69_37n -1 known missense c.12 p.F4L 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFAP4 HGNC ENSG00000090447 80 0 0.00 85 12 12.37 - - - TFF3 0 genome.wustl.edu 37 21 43732333 43732333 + Silent SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 21 43732333 43732333 C A SNP TFF3 ENST00000398431 human ensembl 69_37n -1 novel silent c.282 p.A94 0.002 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TFF3 HGNC ENSG00000160180 37 0 0.00 30 8 21.05 - - - TGM3 0 genome.wustl.edu 37 20 2315917 2315917 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 2315917 2315917 G A SNP TGM3 ENST00000381458 human ensembl 69_37n +1 known missense c.1798 p.E600K 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 88 0 0.00 94 14 12.96 - - - THBD 0 genome.wustl.edu 37 20 23028944 23028944 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 20 23028944 23028944 C T SNP THBD ENST00000377103 human ensembl 69_37n -1 known missense c.1198 p.E400K 0.000 pirsf_CD93/CD141,smart_EGF-like_Ca-bd,smart_EGF-like pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 63 0 0.00 72 16 18.18 - - - THSD7B 0 genome.wustl.edu 37 2 138163218 138163218 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 138163218 138163218 G A SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known missense c.2536 p.E846K 1.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 25 0 0.00 40 6 13.04 - - - TLE2 0 genome.wustl.edu 37 19 3011063 3011063 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 3011063 3011063 G A SNP TLE2 ENST00000447365 human ensembl 69_37n -1 known missense c.95 p.S32F 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE2 HGNC ENSG00000065717 109 0 0.00 111 18 13.95 - - - TLR1 0 genome.wustl.edu 37 4 38800365 38800365 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 4 38800365 38800365 C G SNP TLR1 ENST00000308979 human ensembl 69_37n -1 known missense c.88 p.D30H 0.023 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 49 0 0.00 37 5 11.90 - - - TMEM38A 0 genome.wustl.edu 37 19 16791268 16791268 + Silent SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 16791268 16791268 G T SNP TMEM38A ENST00000187762 human ensembl 69_37n +1 known silent c.342 p.V114 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 92 0 0.00 92 18 16.36 - - - TMTC1 0 genome.wustl.edu 37 12 29812815 29812815 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 29812815 29812815 C T SNP TMTC1 ENST00000381224 human ensembl 69_37n -1 known silent c.798 p.T266 0.997 pfam_DUF1736 pfam_DUF1736,pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 54 0 0.00 38 8 17.39 - - - TNXB 0 genome.wustl.edu 37 6 32023869 32023869 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 32023869 32023869 C G SNP TNXB ENST00000375247 human ensembl 69_37n -1 known silent c.8226 p.L2742 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 35 0 0.00 42 7 14.29 - - - TNXB 0 genome.wustl.edu 37 6 32062954 32062954 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 32062954 32062954 C T SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.2257 p.E753K 0.882 smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 42 0 0.00 58 14 19.44 - - - TP53 0 genome.wustl.edu 37 17 7578423 7578423 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 7578423 7578423 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.507 p.M169I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 22 0 0.00 28 9 24.32 - - - TPH1 0 genome.wustl.edu 37 11 18048072 18048072 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 18048072 18048072 C T SNP TPH1 ENST00000417164 human ensembl 69_37n -1 known missense c.571 p.E191K 1.000 NULL pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C - no_errors TPH1 HGNC ENSG00000129167 92 0 0.00 100 15 13.04 - - - TPST1 0 genome.wustl.edu 37 7 65705509 65705509 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 65705509 65705509 C T SNP TPST1 ENST00000304842 human ensembl 69_37n +1 known missense c.97 p.H33Y 1.000 NULL pfam_Sulfotransferase_dom - no_errors TPST1 HGNC ENSG00000169902 48 0 0.00 51 6 10.53 - - - TPTEP1 0 genome.wustl.edu 37 22 17094952 17094952 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 22 17094952 17094952 C T SNP TPTEP1 ENST00000588548 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TPTEP1 HGNC ENSG00000100181 30 0 0.00 22 5 18.52 - - - TRAFD1 0 genome.wustl.edu 37 12 112579878 112579879 + Frame_Shift_Ins INS - - T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 112579878 112579879 - T INS TRAFD1 ENST00000548277 human ensembl 69_37n +1 putative frame_shift_ins c.11_12 p.F8fs 0.016:0.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TRAFD1 HGNC ENSG00000135148 9 0 0.00 3 3 50.00 - - - TRDN 0 genome.wustl.edu 37 6 123580807 123580807 + Missense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 123580807 123580807 C A SNP TRDN ENST00000398178 human ensembl 69_37n -1 known missense c.1832 p.G611V 0.080 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 60 0 0.00 39 15 27.78 - - - TRIM5 0 genome.wustl.edu 37 11 5686709 5686709 + RNA SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 5686709 5686709 G A SNP TRIM5 ENST00000492086 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TRIM5 HGNC ENSG00000132256 40 0 0.00 38 6 13.64 - - - TRIM73 0 genome.wustl.edu 37 7 75028334 75028334 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 75028334 75028334 C T SNP TRIM73 ENST00000323819 human ensembl 69_37n +1 known silent c.117 p.C39 0.996 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM73 HGNC ENSG00000178809 54 0 0.00 50 8 13.79 - - - TRPA1 0 genome.wustl.edu 37 8 72948630 72948630 + Silent SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 72948630 72948630 G T SNP TRPA1 ENST00000262209 human ensembl 69_37n -1 known silent c.2448 p.I816 0.782 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 27 0 0.00 19 10 34.48 - - - TRPC4 0 genome.wustl.edu 37 13 38320505 38320505 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 38320505 38320505 C T SNP TRPC4 ENST00000379681 human ensembl 69_37n -1 known missense c.466 p.E156K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 65 0 0.00 54 7 11.48 - - - TRPV2 0 genome.wustl.edu 37 17 16326933 16326933 + Nonsense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 16326933 16326933 C G SNP TRPV2 ENST00000338560 human ensembl 69_37n +1 known nonsense c.776 p.S259* 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 75 0 0.00 68 13 16.05 - - - TRPV4 0 genome.wustl.edu 37 12 110224578 110224578 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 110224578 110224578 G A SNP TRPV4 ENST00000261740 human ensembl 69_37n -1 known missense c.2273 p.S758F 0.996 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 88 0 0.00 86 20 18.69 - - - TSPAN14 0 genome.wustl.edu 37 10 82275795 82275795 + RNA SNP G G T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 82275795 82275795 G T SNP TSPAN14 ENST00000265450 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TSPAN14 HGNC ENSG00000108219 8 0 0.00 2 14 87.50 - - - TTN 0 genome.wustl.edu 37 2 179442805 179442805 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 179442805 179442805 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.60733 p.E20245Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 37 0 0.00 40 6 13.04 - - - TTN 0 genome.wustl.edu 37 2 179442814 179442814 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 179442814 179442814 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.60724 p.E20242K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 31 0 0.00 38 5 11.63 - - - TTN 0 genome.wustl.edu 37 2 179531966 179531966 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 179531966 179531966 C T SNP TTN ENST00000589042 human ensembl 69_37n -1 putative missense c.35794 p.E11932K 0.053 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,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 47 0 0.00 53 10 15.87 - - - TTN 0 genome.wustl.edu 37 2 179611025 179611025 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 179611025 179611025 C G SNP TTN ENST00000360870 human ensembl 69_37n -1 known missense c.16102 p.E5368Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 17 0 0.00 11 4 26.67 - - - TUBA1B 0 genome.wustl.edu 37 12 49523124 49523124 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 49523124 49523124 G A SNP TUBA1B ENST00000336023 human ensembl 69_37n -1 known silent c.276 p.L92 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 90 0 0.00 97 24 19.83 - - - TUBA1B 0 genome.wustl.edu 37 12 49523127 49523127 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 49523127 49523127 C T SNP TUBA1B ENST00000336023 human ensembl 69_37n -1 known silent c.273 p.Q91 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 89 0 0.00 92 23 20.00 - - - TULP1 0 genome.wustl.edu 37 6 35480457 35480457 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 35480457 35480457 C T SNP TULP1 ENST00000229771 human ensembl 69_37n -1 known missense c.58 p.E20K 1.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 25 0 0.00 22 11 33.33 - - - TUSC3 0 genome.wustl.edu 37 8 15531278 15531278 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 15531278 15531278 C G SNP TUSC3 ENST00000351598 human ensembl 69_37n +1 known missense c.731 p.S244C 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 68 0 0.00 32 6 15.79 - - - UBR4 0 genome.wustl.edu 37 1 19525367 19525367 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 19525367 19525367 C T SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.434 p.R145K 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 44 0 0.00 53 7 11.67 - - - USP15 0 genome.wustl.edu 37 12 62784666 62784666 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 62784666 62784666 G A SNP USP15 ENST00000280377 human ensembl 69_37n +1 known missense c.1867 p.E623K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC ENSG00000135655 34 0 0.00 36 8 18.18 - - - USP2 0 genome.wustl.edu 37 11 119228759 119228759 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 119228759 119228759 C T SNP USP2 ENST00000260187 human ensembl 69_37n -1 known missense c.1354 p.E452K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP2 HGNC ENSG00000036672 73 0 0.00 84 20 19.23 - - - USP24 0 genome.wustl.edu 37 1 55572941 55572941 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 55572941 55572941 G A SNP USP24 ENST00000294383 human ensembl 69_37n -1 known missense c.4733 p.S1578L 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 100 0 0.00 85 11 11.46 - - - USPL1 0 genome.wustl.edu 37 13 31232835 31232835 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 31232835 31232835 C T SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known missense c.2621 p.S874L 0.023 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 28 0 0.00 51 10 16.39 - - - USPL1 0 genome.wustl.edu 37 13 31233336 31233336 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 13 31233336 31233336 C G SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known missense c.3122 p.S1041C 0.006 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 25 0 0.00 21 12 36.36 - - - UTP15 0 genome.wustl.edu 37 5 72875844 72875844 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 72875844 72875844 G A SNP UTP15 ENST00000296792 human ensembl 69_37n +1 known missense c.1482 p.M494I 1.000 NULL pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP15 HGNC ENSG00000164338 57 0 0.00 58 11 15.94 - - - UTP20 0 genome.wustl.edu 37 12 101738384 101738384 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 101738384 101738384 G C SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.4461 p.M1487I 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 26 0 0.00 24 4 14.29 - - - VIPAS39 0 genome.wustl.edu 37 14 77920443 77920443 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 77920443 77920443 C T SNP VIPAS39 ENST00000343765 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 NULL pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 54 0 0.00 42 10 19.23 - - - VIT 0 genome.wustl.edu 37 2 37014283 37014283 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 37014283 37014283 G A SNP VIT ENST00000379242 human ensembl 69_37n +1 known missense c.922 p.D308N 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 47 0 0.00 44 10 18.52 - - - VPS13B 0 genome.wustl.edu 37 8 100155253 100155253 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 100155253 100155253 C T SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.1703 p.T568I 0.002 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 63 0 0.00 43 12 21.82 - - - VPS13C 0 genome.wustl.edu 37 15 62274718 62274718 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 15 62274718 62274718 C G SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.1969 p.E657Q 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 90 0 0.00 94 11 10.48 - - - VPS13D 0 genome.wustl.edu 37 1 12428617 12428617 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 1 12428617 12428617 C T SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.10543 p.P3515S 0.996 pfam_VPSAP pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 90 0 0.00 82 10 10.87 - - - VPS52 0 genome.wustl.edu 37 6 33235986 33235986 + Splice_Site SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 33235986 33235986 C G SNP VPS52 ENST00000445902 human ensembl 69_37n -1 known splice_site c.700-1 e8-1 1.000 - - - no_errors VPS52 HGNC ENSG00000223501 27 0 0.00 44 5 10.20 - - - WDR6 0 genome.wustl.edu 37 3 49050837 49050837 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 49050837 49050837 G A SNP WDR6 ENST00000395474 human ensembl 69_37n +1 known missense c.1960 p.D654N 0.975 superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 30 0 0.00 47 7 12.96 - - - WDR66 0 genome.wustl.edu 37 12 122395061 122395061 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 122395061 122395061 G A SNP WDR66 ENST00000288912 human ensembl 69_37n +1 known silent c.1617 p.L539 0.986 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 49 0 0.00 62 12 16.22 - - - WDR66 0 genome.wustl.edu 37 12 122396244 122396244 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 12 122396244 122396244 G A SNP WDR66 ENST00000288912 human ensembl 69_37n +1 known silent c.1797 p.E599 0.986 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 48 0 0.00 67 9 11.84 - - - XPNPEP1 0 genome.wustl.edu 37 10 111667567 111667567 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 10 111667567 111667567 C T SNP XPNPEP1 ENST00000502935 human ensembl 69_37n -1 known missense c.128 p.R43K 0.189 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 57 0 0.00 28 10 26.32 - - - YLPM1 0 genome.wustl.edu 37 14 75265994 75265994 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 14 75265994 75265994 C T SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.3994 p.P1332S 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 23 0 0.00 36 7 15.91 - - - YPEL5 0 genome.wustl.edu 37 2 30381839 30381839 + RNA SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 2 30381839 30381839 G C SNP YPEL5 ENST00000495673 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors YPEL5 HGNC ENSG00000119801 19 0 0.00 20 4 16.67 - - - ZBTB26 0 genome.wustl.edu 37 9 125680889 125680889 + Nonstop_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 125680889 125680889 C G SNP ZBTB26 ENST00000373654 human ensembl 69_37n -1 known nonstop c.1325 p.*442S 0.997 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB26 HGNC ENSG00000171448 27 0 0.00 32 12 27.27 - - - ZBTB26 0 genome.wustl.edu 37 9 125681055 125681055 + Nonsense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 9 125681055 125681055 C A SNP ZBTB26 ENST00000373654 human ensembl 69_37n -1 known nonsense c.1159 p.E387* 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB26 HGNC ENSG00000171448 28 0 0.00 52 7 11.86 - - - ZFP57 0 genome.wustl.edu 37 6 29644742 29644742 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 6 29644742 29644742 C G SNP ZFP57 ENST00000488757 human ensembl 69_37n -1 known missense c.39 p.K13N 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP57 HGNC ENSG00000204644 65 0 0.00 88 20 18.52 - - - ZNF16 0 genome.wustl.edu 37 8 146156997 146156997 + Silent SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 8 146156997 146156997 C G SNP ZNF16 ENST00000276816 human ensembl 69_37n -1 known silent c.1176 p.L392 0.240 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 41 0 0.00 40 6 13.04 - - - ZNF232 0 genome.wustl.edu 37 17 5012814 5012814 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 17 5012814 5012814 C T SNP ZNF232 ENST00000250076 human ensembl 69_37n -1 known missense c.373 p.E125K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 48 0 0.00 46 11 19.30 - - - ZNF259 0 genome.wustl.edu 37 11 116656232 116656232 + Nonsense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 11 116656232 116656232 G A SNP ZNF259 ENST00000227322 human ensembl 69_37n -1 known nonsense c.703 p.Q235* 0.470 tigrfam_Znf_ZPR1 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 - no_errors ZNF259 HGNC ENSG00000109917 87 0 0.00 97 13 11.82 - - - ZNF300 0 genome.wustl.edu 37 5 150275144 150275144 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 150275144 150275144 C G SNP ZNF300 ENST00000446148 human ensembl 69_37n -1 known missense c.1705 p.E569Q 0.308 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 64 0 0.00 60 32 34.78 - - - ZNF366 0 genome.wustl.edu 37 5 71757044 71757044 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 5 71757044 71757044 C G SNP ZNF366 ENST00000318442 human ensembl 69_37n -1 known missense c.280 p.E94Q 0.139 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 89 0 0.00 107 13 10.83 - - - ZNF479 0 genome.wustl.edu 37 7 57187652 57187652 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 7 57187652 57187652 C T SNP ZNF479 ENST00000331162 human ensembl 69_37n -1 known silent c.1470 p.E490 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 62 0 0.00 52 6 10.34 - - - ZNF543 0 genome.wustl.edu 37 19 57835121 57835121 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 57835121 57835121 G A SNP ZNF543 ENST00000321545 human ensembl 69_37n +1 known silent c.90 p.Q30 0.732 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 89 0 0.00 104 17 14.05 - - - ZNF543 0 genome.wustl.edu 37 19 57840193 57840193 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 57840193 57840193 G A SNP ZNF543 ENST00000321545 human ensembl 69_37n +1 known missense c.1363 p.E455K 0.969 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 45 0 0.00 49 11 18.33 - - - ZNF589 0 genome.wustl.edu 37 3 48299430 48299430 + RNA SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 3 48299430 48299430 C T SNP ZNF589 ENST00000454212 human ensembl 69_37n +1 known rna NULL NULL 0.009 - - - no_errors ZNF589 HGNC ENSG00000164048 81 0 0.00 118 17 12.59 - - - ZNF649 0 genome.wustl.edu 37 19 52394623 52394623 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 52394623 52394623 G C SNP ZNF649 ENST00000354957 human ensembl 69_37n -1 known missense c.766 p.H256D 0.944 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 ZNF649 HGNC ENSG00000198093 58 0 0.00 88 12 12.00 - - - ZNF768 0 genome.wustl.edu 37 16 30537313 30537313 + Nonsense_Mutation SNP C C A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 16 30537313 30537313 C A SNP ZNF768 ENST00000380412 human ensembl 69_37n -1 known nonsense c.148 p.E50* 1.000 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 30 0 0.00 49 8 14.04 - - - ZNF792 0 genome.wustl.edu 37 19 35449130 35449130 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 35449130 35449130 G C SNP ZNF792 ENST00000404801 human ensembl 69_37n -1 known missense c.1629 p.F543L 0.960 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF792 HGNC ENSG00000180884 34 0 0.00 32 5 13.51 - - - ZNF813 0 genome.wustl.edu 37 19 53994951 53994951 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b59ec69e-e93a-4415-9c18-9d139b852919 7ff240ac-2b8f-4e5c-8184-980b3f9322a5 19 53994951 53994951 C T SNP ZNF813 ENST00000396403 human ensembl 69_37n +1 known missense c.1465 p.H489Y 0.656 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF813 HGNC ENSG00000198346 47 0 0.00 53 14 20.90 - - -