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 ABCA4 0 genome.wustl.edu 37 1 94486873 94486873 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 94486873 94486873 C A SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.4941 p.R1647S 0.958 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 281 0 0.00 255 46 15.28 - - - ABCC10 0 genome.wustl.edu 37 6 43409655 43409655 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 43409655 43409655 G C SNP ABCC10 ENST00000372530 human ensembl 69_37n +1 known missense c.2183 p.G728A 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 162 0 0.00 190 27 12.44 - - - ABCF2 0 genome.wustl.edu 37 7 150922031 150922031 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 150922031 150922031 C G SNP ABCF2 ENST00000222388 human ensembl 69_37n -1 known missense c.198 p.K66N 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 252 0 0.00 182 47 20.52 - - - ABHD12 0 genome.wustl.edu 37 20 25281495 25281495 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 20 25281495 25281495 C G SNP ABHD12 ENST00000339157 human ensembl 69_37n -1 known missense c.1183 p.E395Q 0.074 NULL pfam_AB_hydrolase_1,pfam_AB_hydrolase_3 - no_errors ABHD12 HGNC ENSG00000100997 156 0 0.00 148 17 10.30 - - - ACSM1 0 genome.wustl.edu 37 16 20636769 20636769 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 20636769 20636769 G C SNP ACSM1 ENST00000524149 human ensembl 69_37n -1 novel missense c.518 p.A173G 1.000 NULL pfam_AMP-dep_Synth/Lig - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ACSM1 HGNC ENSG00000166743 81 0 0.00 125 16 11.35 - - - ADAD1 0 genome.wustl.edu 37 4 123332460 123332460 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 123332460 123332460 C G SNP ADAD1 ENST00000296513 human ensembl 69_37n +1 known missense c.932 p.S311C 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 283 0 0.00 602 80 11.70 - - - ADAM29 0 genome.wustl.edu 37 4 175896863 175896863 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 175896863 175896863 C T SNP ADAM29 ENST00000359240 human ensembl 69_37n +1 known missense c.187 p.H63Y 0.001 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 104 0 0.00 28 13 31.71 - - - ADAMTS18 0 genome.wustl.edu 37 16 77375627 77375627 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 77375627 77375627 C T SNP ADAMTS18 ENST00000282849 human ensembl 69_37n -1 known missense c.1684 p.E562K 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 261 0 0.00 236 101 29.97 - - - ADD2 0 genome.wustl.edu 37 2 70917942 70917942 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 70917942 70917942 C G SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known missense c.825 p.Q275H 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 136 0 0.00 120 32 21.05 - - - ADPRM 0 genome.wustl.edu 37 17 10608733 10608733 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 10608733 10608733 G C SNP ADPRM ENST00000379774 human ensembl 69_37n +1 known missense c.490 p.D164H 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors ADPRM HGNC ENSG00000170222 327 0 0.00 181 137 42.95 - - - AFF3 0 genome.wustl.edu 37 2 100210557 100210557 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 100210557 100210557 C T SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known silent c.1641 p.E547 0.001 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 152 0 0.00 115 49 29.88 - - - AGTR2 0 genome.wustl.edu 37 X 115304469 115304469 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 115304469 115304469 C T SNP AGTR2 ENST00000371906 human ensembl 69_37n +1 known silent c.936 p.C312 0.782 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor,prints_Chemokine_rcpt - no_errors AGTR2 HGNC ENSG00000180772 494 1 0.20 162 270 62.36 - - - AHCTF1 0 genome.wustl.edu 37 1 247067320 247067320 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 247067320 247067320 C G SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known missense c.924 p.L308F 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 246 0 0.00 210 177 45.74 - - - AKAP11 0 genome.wustl.edu 37 13 42882612 42882612 + Nonsense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 13 42882612 42882612 C T SNP AKAP11 ENST00000025301 human ensembl 69_37n +1 known nonsense c.5140 p.Q1714* 0.997 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 115 0 0.00 102 18 15.00 - - - AKT2 0 genome.wustl.edu 37 19 40741906 40741906 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 40741906 40741906 C T SNP AKT2 ENST00000392038 human ensembl 69_37n -1 known missense c.1066 p.E356K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT2 HGNC ENSG00000105221 132 0 0.00 107 62 36.47 - - - ANAPC7 0 genome.wustl.edu 37 12 110815414 110815414 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 110815414 110815414 C T SNP ANAPC7 ENST00000455511 human ensembl 69_37n -1 known missense c.1243 p.E415K 1.000 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 317 0 0.00 262 42 13.73 - - - ANGPT1 0 genome.wustl.edu 37 8 108359272 108359272 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 108359272 108359272 C G SNP ANGPT1 ENST00000517746 human ensembl 69_37n -1 known missense c.351 p.Q117H 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT1 HGNC ENSG00000154188 439 0 0.00 528 82 13.42 - - - AP4B1 0 genome.wustl.edu 37 1 114445417 114445417 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 114445417 114445417 C G SNP AP4B1 ENST00000256658 human ensembl 69_37n -1 known missense c.181 p.D61H 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,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu - no_errors AP4B1 HGNC ENSG00000134262 206 0 0.00 208 33 13.69 - - - APOB 0 genome.wustl.edu 37 2 21232398 21232398 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 21232398 21232398 G C SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.7342 p.Q2448E 0.074 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 273 0 0.00 236 50 17.42 - - - ARL16 0 genome.wustl.edu 37 17 79650736 79650736 + Silent SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 79650736 79650736 C G SNP ARL16 ENST00000397498 human ensembl 69_37n -1 known silent c.120 p.V40 0.990 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ENSG00000214087 29 0 0.00 7 20 74.07 - - - ASPM 0 genome.wustl.edu 37 1 197073413 197073413 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 197073413 197073413 G C SNP ASPM ENST00000367409 human ensembl 69_37n -1 known silent c.4968 p.L1656 0.036 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 153 0 0.00 143 19 11.66 - - - ATAD2 0 genome.wustl.edu 37 8 124346529 124346529 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 124346529 124346529 C G SNP ATAD2 ENST00000287394 human ensembl 69_37n -1 known missense c.3245 p.R1082T 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 219 0 0.00 147 210 58.66 - - - ATP10B 0 genome.wustl.edu 37 5 160025900 160025900 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 160025900 160025900 C T SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.3441 p.M1147I 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,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 ATP10B HGNC ENSG00000118322 186 0 0.00 142 37 20.56 - - - ATP1A1 0 genome.wustl.edu 37 1 116941293 116941293 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 116941293 116941293 G T SNP ATP1A1 ENST00000295598 human ensembl 69_37n +1 known missense c.2175 p.L725F 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A1 HGNC ENSG00000163399 542 2 0.37 617 83 11.84 - - - ATP8A2 0 genome.wustl.edu 37 13 26535727 26535727 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 13 26535727 26535727 G C SNP ATP8A2 ENST00000381655 human ensembl 69_37n +1 known silent c.3198 p.L1066 1.000 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 ATP8A2 HGNC ENSG00000132932 539 0 0.00 437 95 17.86 - - - BCO2 0 genome.wustl.edu 37 11 112086971 112086971 + Nonsense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 112086971 112086971 C G SNP BCO2 ENST00000357685 human ensembl 69_37n +1 known nonsense c.1544 p.S515* 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 488 0 0.00 357 134 27.24 - - - BEND5 0 genome.wustl.edu 37 1 49193689 49193689 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 49193689 49193689 C G SNP BEND5 ENST00000371833 human ensembl 69_37n -1 known missense c.1135 p.E379Q 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 453 1 0.22 310 88 22.11 - - - BLNK 0 genome.wustl.edu 37 10 97983711 97983711 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 97983711 97983711 G A SNP BLNK ENST00000224337 human ensembl 69_37n -1 known silent c.396 p.F132 0.999 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 273 0 0.00 185 25 11.85 - - - BSX 0 genome.wustl.edu 37 11 122850093 122850093 + Missense_Mutation SNP T T A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 122850093 122850093 T A SNP BSX ENST00000343035 human ensembl 69_37n -1 known missense c.335 p.K112I 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors BSX HGNC ENSG00000188909 48 0 0.00 43 21 32.81 - - - C1orf95 0 genome.wustl.edu 37 1 226736785 226736785 + Silent SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 226736785 226736785 C G SNP C1orf95 ENST00000366788 human ensembl 69_37n +1 known silent c.180 p.L60 1.000 NULL NULL - no_errors C1orf95 HGNC ENSG00000203685 20 0 0.00 28 15 34.09 - - - C20orf173 0 genome.wustl.edu 37 20 34116530 34116530 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 20 34116530 34116530 C T SNP C20orf173 ENST00000444723 human ensembl 69_37n -1 known missense c.488 p.R163K 0.990 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 74 0 0.00 68 37 35.24 - - - C4orf17 0 genome.wustl.edu 37 4 100460508 100460508 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 100460508 100460508 G C SNP C4orf17 ENST00000326581 human ensembl 69_37n +1 known missense c.817 p.E273Q 0.178 NULL NULL - no_errors C4orf17 HGNC ENSG00000138813 233 0 0.00 151 42 21.76 - - - C5orf51 0 genome.wustl.edu 37 5 41909903 41909903 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 41909903 41909903 C T SNP C5orf51 ENST00000381647 human ensembl 69_37n +1 known missense c.263 p.P88L 1.000 NULL NULL - no_errors C5orf51 HGNC ENSG00000205765 122 0 0.00 90 17 15.89 - - - CA11 0 genome.wustl.edu 37 19 49143054 49143054 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 49143054 49143054 G C SNP CA11 ENST00000084798 human ensembl 69_37n -1 known silent c.558 p.L186 0.987 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA11 HGNC ENSG00000063180 114 0 0.00 148 73 33.03 - - - CACNA1D 0 genome.wustl.edu 37 3 53707806 53707806 + Missense_Mutation SNP T T A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 53707806 53707806 T A SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.1183 p.F395I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 529 0 0.00 393 95 19.47 - - - CAPS 0 genome.wustl.edu 37 19 5914426 5914426 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 5914426 5914426 C T SNP CAPS ENST00000222125 human ensembl 69_37n +1 known silent c.9 p.A3 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CAPS HGNC ENSG00000105519 41 0 0.00 29 15 34.09 - - - CAV1 0 genome.wustl.edu 37 7 116199333 116199333 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 116199333 116199333 G C SNP CAV1 ENST00000341049 human ensembl 69_37n +1 known missense c.529 p.E177Q 1.000 NULL pfam_Caveolin - no_errors CAV1 HGNC ENSG00000105974 161 0 0.00 112 24 17.65 - - - CCDC138 0 genome.wustl.edu 37 2 109404510 109404510 + Missense_Mutation SNP A A G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 109404510 109404510 A G SNP CCDC138 ENST00000295124 human ensembl 69_37n +1 known missense c.116 p.Q39R 0.430 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 65 0 0.00 47 15 24.19 - - - CCDC64B 0 genome.wustl.edu 37 16 3081079 3081079 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 3081079 3081079 C T SNP CCDC64B ENST00000389347 human ensembl 69_37n -1 known missense c.355 p.V119M 0.990 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC ENSG00000162069 13 0 0.00 12 11 47.83 - - - CCDC80 0 genome.wustl.edu 37 3 112357123 112357123 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 112357123 112357123 C G SNP CCDC80 ENST00000206423 human ensembl 69_37n -1 known missense c.1630 p.E544Q 0.978 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 372 0 0.00 187 132 41.38 - - - CD163L1 0 genome.wustl.edu 37 12 7550886 7550886 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 7550886 7550886 C G SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.1703 p.R568T 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 318 0 0.00 471 59 11.13 - - - CD2AP 0 genome.wustl.edu 37 6 47541929 47541929 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 47541929 47541929 C G SNP CD2AP ENST00000359314 human ensembl 69_37n +1 known missense c.671 p.S224C 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 226 0 0.00 211 35 14.23 - - - CENPE 0 genome.wustl.edu 37 4 104061230 104061230 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 104061230 104061230 C G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.5920 p.E1974Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 199 0 0.00 145 18 11.04 - - - CEP89 0 genome.wustl.edu 37 19 33417111 33417111 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 33417111 33417111 G C SNP CEP89 ENST00000305768 human ensembl 69_37n -1 known silent c.1149 p.L383 0.004 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 249 0 0.00 241 45 15.73 - - - CHCHD3 0 genome.wustl.edu 37 7 132470412 132470412 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 132470412 132470412 C G SNP CHCHD3 ENST00000262570 human ensembl 69_37n -1 known missense c.670 p.E224Q 0.991 NULL pfam_DUF737 - no_errors CHCHD3 HGNC ENSG00000106554 461 0 0.00 181 204 52.85 - - - CHD4 0 genome.wustl.edu 37 12 6680157 6680157 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 6680157 6680157 C T SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.5683 p.D1895N 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 325 0 0.00 397 94 19.14 - - - CHD8 0 genome.wustl.edu 37 14 21867782 21867782 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 14 21867782 21867782 G C SNP CHD8 ENST00000399982 human ensembl 69_37n -1 known missense c.4900 p.L1634V 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 198 0 0.00 205 80 28.07 - - - CHTF18 0 genome.wustl.edu 37 16 839677 839677 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 839677 839677 C T SNP CHTF18 ENST00000426047 human ensembl 69_37n +1 novel missense c.179 p.S60F 0.996 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CHTF18 HGNC ENSG00000127586 59 0 0.00 68 21 23.60 - - - CIRH1A 0 genome.wustl.edu 37 16 69191112 69191112 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 69191112 69191112 C G SNP CIRH1A ENST00000314423 human ensembl 69_37n +1 known missense c.1413 p.F471L 0.999 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 191 0 0.00 164 39 19.12 - - - CISD3 0 genome.wustl.edu 37 17 36887606 36887606 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 36887606 36887606 G C SNP CISD3 ENST00000439660 human ensembl 69_37n +1 known missense c.118 p.V40L 0.787 NULL pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam - no_errors CISD3 HGNC ENSG00000230055 188 0 0.00 72 110 60.44 - - - CLIC5 0 genome.wustl.edu 37 6 46047913 46047914 + Frame_Shift_Ins INS - - GG TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 46047913 46047914 - GG INS CLIC5 ENST00000185206 human ensembl 69_37n -1 known frame_shift_ins c.67_66 p.D22fs 0.909:0.932 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 240 0 0.00 157 79 33.47 - - - CLIC5 0 genome.wustl.edu 37 6 46047914 46047915 + Frame_Shift_Ins INS - - CG TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 46047914 46047915 - CG INS CLIC5 ENST00000185206 human ensembl 69_37n -1 known frame_shift_ins c.66_65 p.D23fs 0.932:0.946 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 239 0 0.00 145 78 34.98 - - - COL12A1 0 genome.wustl.edu 37 6 75893674 75893674 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 75893674 75893674 G A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.1184 p.S395L 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 229 0 0.00 281 48 14.59 - - - COL4A6 0 genome.wustl.edu 37 X 107436904 107436904 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 107436904 107436904 C T SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known silent c.1029 p.L343 0.958 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 187 0 0.00 187 22 10.53 - - - COQ6 0 genome.wustl.edu 37 14 74428017 74428017 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 14 74428017 74428017 C A SNP COQ6 ENST00000334571 human ensembl 69_37n +1 known missense c.1033 p.L345M 0.346 tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC ENSG00000119723 221 1 0.45 145 39 21.20 - - - CPQ 0 genome.wustl.edu 37 8 98155248 98155248 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 98155248 98155248 G A SNP CPQ ENST00000220763 human ensembl 69_37n +1 known missense c.1256 p.G419E 1.000 pfam_Peptidase_M28 pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 247 0 0.00 281 66 19.02 - - - CREBRF 0 genome.wustl.edu 37 5 172550082 172550082 + Splice_Site SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 172550082 172550082 G A SNP CREBRF ENST00000540014 human ensembl 69_37n +1 known splice_site c.1688-1 e8-1 1.000 - - - no_errors CREBRF HGNC ENSG00000164463 166 0 0.00 105 32 23.36 - - - CRHR2 0 genome.wustl.edu 37 7 30706918 30706918 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 30706918 30706918 G C SNP CRHR2 ENST00000348438 human ensembl 69_37n -1 known missense c.322 p.R108G 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_diuretic_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR2 HGNC ENSG00000106113 277 0 0.00 199 117 37.03 - - - CTNND1 0 genome.wustl.edu 37 11 57563948 57563948 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 57563948 57563948 C G SNP CTNND1 ENST00000399050 human ensembl 69_37n +1 known missense c.440 p.T147S 0.999 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 85 0 0.00 78 18 18.75 - - - CYP11B2 0 genome.wustl.edu 37 8 143993476 143993476 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 143993476 143993476 G C SNP CYP11B2 ENST00000323110 human ensembl 69_37n -1 known missense c.1432 p.Q478E 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 381 0 0.00 318 309 49.20 - - - DCAF8L2 0 genome.wustl.edu 37 X 27765804 27765804 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 27765804 27765804 G A SNP DCAF8L2 ENST00000451261 human ensembl 69_37n +1 known silent c.792 p.L264 0.053 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 208 0 0.00 196 23 10.45 - - - DMD 0 genome.wustl.edu 37 X 32429984 32429984 + Missense_Mutation SNP T T C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 32429984 32429984 T C SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.4118 p.Q1373R 1.000 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 299 0 0.00 251 74 22.70 - - - DNAH1 0 genome.wustl.edu 37 3 52430733 52430733 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 52430733 52430733 G C SNP DNAH1 ENST00000420323 human ensembl 69_37n +1 known missense c.11530 p.E3844Q 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 153 0 0.00 114 14 10.94 - - - DNAH9 0 genome.wustl.edu 37 17 11543625 11543625 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 11543625 11543625 G A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.1825 p.G609S 0.989 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 98 0 0.00 33 39 54.17 - - - DNAJC28 0 genome.wustl.edu 37 21 34861131 34861131 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 21 34861131 34861131 C G SNP DNAJC28 ENST00000314399 human ensembl 69_37n -1 known missense c.570 p.Q190H 0.993 NULL pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC28 HGNC ENSG00000177692 408 0 0.00 389 121 23.68 - - - DRG1 0 genome.wustl.edu 37 22 31819322 31819322 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 22 31819322 31819322 G C SNP DRG1 ENST00000331457 human ensembl 69_37n +1 known missense c.639 p.K213N 1.000 tigrfam_Small_GTP-bd_dom pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG1 HGNC ENSG00000185721 198 0 0.00 70 94 57.32 - - - DSCAM 0 genome.wustl.edu 37 21 42064818 42064818 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 21 42064818 42064818 G C SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.426 p.V142 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 182 0 0.00 235 35 12.96 - - - ECHDC3 0 genome.wustl.edu 37 10 11791544 11791544 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 11791544 11791544 G C SNP ECHDC3 ENST00000379215 human ensembl 69_37n +1 known missense c.343 p.E115Q 0.244 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECHDC3 HGNC ENSG00000134463 316 0 0.00 385 47 10.85 - - - EFEMP1 0 genome.wustl.edu 37 2 56094242 56094242 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 56094242 56094242 C G SNP EFEMP1 ENST00000355426 human ensembl 69_37n -1 known missense c.1448 p.R483T 1.000 NULL pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 272 0 0.00 205 100 32.68 - - - EIF2C3 0 genome.wustl.edu 37 1 36479639 36479639 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 36479639 36479639 G C SNP EIF2C3 ENST00000373191 human ensembl 69_37n +1 known missense c.1396 p.E466Q 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C3 HGNC ENSG00000126070 287 0 0.00 115 116 50.22 - - - ELAC2 0 genome.wustl.edu 37 17 12897061 12897061 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 12897061 12897061 G A SNP ELAC2 ENST00000584650 human ensembl 69_37n -1 novel missense c.1595 p.S532F 1.000 NULL pfam_Beta-lactamas-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ELAC2 HGNC ENSG00000006744 205 0 0.00 99 103 50.99 - - - ELL 0 genome.wustl.edu 37 19 18562372 18562372 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 18562372 18562372 G C SNP ELL ENST00000262809 human ensembl 69_37n -1 known missense c.956 p.S319W 0.674 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 22 0 0.00 20 5 20.00 - - - EPHB4 0 genome.wustl.edu 37 7 100405049 100405049 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 100405049 100405049 C G SNP EPHB4 ENST00000358173 human ensembl 69_37n -1 known missense c.2272 p.D758H 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 233 0 0.00 112 84 42.00 - - - ERC2 0 genome.wustl.edu 37 3 56026144 56026144 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 56026144 56026144 G A SNP ERC2 ENST00000492584 human ensembl 69_37n -1 known missense c.1148 p.S383F 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERC2 HGNC ENSG00000187672 345 1 0.29 262 42 13.77 - - - ERMAP 0 genome.wustl.edu 37 1 43305956 43305956 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 43305956 43305956 G A SNP ERMAP ENST00000372514 human ensembl 69_37n +1 known missense c.701 p.R234Q 0.835 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-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 ERMAP HGNC ENSG00000164010 472 0 0.00 329 60 15.38 - - - ETS1 0 genome.wustl.edu 37 11 128350168 128350168 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 128350168 128350168 G A SNP ETS1 ENST00000392668 human ensembl 69_37n -1 known silent c.1041 p.T347 1.000 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC ENSG00000134954 203 0 0.00 148 70 32.11 - - - EXOC3 0 genome.wustl.edu 37 5 453877 453877 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 453877 453877 G C SNP EXOC3 ENST00000315013 human ensembl 69_37n +1 known missense c.757 p.E253Q 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 212 0 0.00 182 25 12.02 - - - EXOC4 0 genome.wustl.edu 37 7 133160142 133160142 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 133160142 133160142 C G SNP EXOC4 ENST00000253861 human ensembl 69_37n +1 known missense c.1243 p.Q415E 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 184 0 0.00 172 31 15.27 - - - EXPH5 0 genome.wustl.edu 37 11 108384923 108384923 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 108384923 108384923 C G SNP EXPH5 ENST00000265843 human ensembl 69_37n -1 known missense c.1311 p.M437I 0.381 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 242 0 0.00 90 143 61.11 - - - EYS 0 genome.wustl.edu 37 6 64940650 64940650 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 64940650 64940650 C A SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.6259 p.D2087Y 0.004 NULL pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 123 0 0.00 130 20 13.33 - - - F7 0 genome.wustl.edu 37 13 113772894 113772894 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 13 113772894 113772894 G A SNP F7 ENST00000375581 human ensembl 69_37n +1 known missense c.973 p.E325K 0.019 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors F7 HGNC ENSG00000057593 27 0 0.00 17 12 41.38 - - - FAM129C 0 genome.wustl.edu 37 19 17660294 17660294 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 17660294 17660294 C G SNP FAM129C ENST00000335393 human ensembl 69_37n +1 known missense c.1801 p.L601V 0.001 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 192 0 0.00 107 77 41.85 - - - FAM26F 0 genome.wustl.edu 37 6 116784770 116784770 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 116784770 116784770 G C SNP FAM26F ENST00000368605 human ensembl 69_37n +1 known missense c.850 p.E284Q 0.002 NULL NULL - no_errors FAM26F HGNC ENSG00000188820 181 0 0.00 120 119 49.79 - - - FAM47C 0 genome.wustl.edu 37 X 37028630 37028630 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 37028630 37028630 C T SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.2147 p.A716V 0.003 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 168 0 0.00 111 35 23.97 - - - FAM65A 0 genome.wustl.edu 37 16 67577132 67577132 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 67577132 67577132 G C SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known missense c.2503 p.E835Q 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 39 0 0.00 23 7 23.33 - - - FAM65A 0 genome.wustl.edu 37 16 67578233 67578233 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 67578233 67578233 G A SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known missense c.2692 p.D898N 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 30 0 0.00 21 6 22.22 - - - FARP1 0 genome.wustl.edu 37 13 98865603 98865603 + Nonsense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 13 98865603 98865603 C G SNP FARP1 ENST00000376586 human ensembl 69_37n +1 known nonsense c.107 p.S36* 1.000 smart_Band_41_domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC ENSG00000152767 167 0 0.00 127 25 16.45 - - - FBXO28 0 genome.wustl.edu 37 1 224301869 224301869 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 224301869 224301869 G A SNP FBXO28 ENST00000366862 human ensembl 69_37n +1 known missense c.38 p.G13E 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO28 HGNC ENSG00000143756 22 0 0.00 22 8 26.67 - - - FGFR4 0 genome.wustl.edu 37 5 176523632 176523632 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 176523632 176523632 G A SNP FGFR4 ENST00000292408 human ensembl 69_37n +1 known silent c.2043 p.E681 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom 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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FGFR4 HGNC ENSG00000160867 98 0 0.00 49 23 31.94 - - - FIGN 0 genome.wustl.edu 37 2 164467534 164467534 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 164467534 164467534 G A SNP FIGN ENST00000333129 human ensembl 69_37n -1 known missense c.808 p.P270S 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 86 0 0.00 60 27 31.03 - - - FREM3 0 genome.wustl.edu 37 4 144617778 144617778 + Nonsense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 144617778 144617778 G A SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative nonsense c.4051 p.Q1351* 0.950 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 377 0 0.00 236 49 17.19 - - - FXR2 0 genome.wustl.edu 37 17 7495896 7495896 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 7495896 7495896 C T SNP FXR2 ENST00000250113 human ensembl 69_37n -1 known missense c.1751 p.R584H 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 133 0 0.00 51 67 56.78 - - - GALK2 0 genome.wustl.edu 37 15 49509389 49509389 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 49509389 49509389 G A SNP GALK2 ENST00000560031 human ensembl 69_37n +1 known missense c.145 p.E49K 1.000 pfam_GalKase_gal-bd,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase - no_errors GALK2 HGNC ENSG00000156958 260 0 0.00 215 64 22.94 - - - GARNL3 0 genome.wustl.edu 37 9 130097556 130097556 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 9 130097556 130097556 G C SNP GARNL3 ENST00000373387 human ensembl 69_37n +1 known missense c.817 p.E273Q 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP - no_errors GARNL3 HGNC ENSG00000136895 352 0 0.00 285 121 29.73 - - - GBP7 0 genome.wustl.edu 37 1 89607275 89607275 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 89607275 89607275 G C SNP GBP7 ENST00000294671 human ensembl 69_37n -1 known missense c.1422 p.I474M 0.998 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC ENSG00000213512 363 0 0.00 319 50 13.55 - - - GCN1L1 0 genome.wustl.edu 37 12 120575105 120575105 + Nonsense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 120575105 120575105 G A SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known nonsense c.6682 p.Q2228* 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 254 0 0.00 162 64 28.32 - - - GLUD2 0 genome.wustl.edu 37 X 120182613 120182613 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 120182613 120182613 C T SNP GLUD2 ENST00000328078 human ensembl 69_37n +1 known silent c.1075 p.L359 0.988 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 578 0 0.00 631 78 11.00 - - - GPLD1 0 genome.wustl.edu 37 6 24472849 24472849 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 24472849 24472849 C G SNP GPLD1 ENST00000230036 human ensembl 69_37n -1 known missense c.506 p.S169T 1.000 prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 222 0 0.00 189 64 25.30 - - - GPR83 0 genome.wustl.edu 37 11 94134208 94134208 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 94134208 94134208 G A SNP GPR83 ENST00000243673 human ensembl 69_37n -1 known missense c.206 p.T69M 0.826 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 192 1 0.52 207 29 12.18 - - - GPRASP1 0 genome.wustl.edu 37 X 101910384 101910384 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 101910384 101910384 G C SNP GPRASP1 ENST00000361600 human ensembl 69_37n +1 known missense c.1543 p.E515Q 0.982 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 219 0 0.00 178 54 23.28 - - - GRIA3 0 genome.wustl.edu 37 X 122561910 122561910 + Nonsense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 122561910 122561910 G T SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known nonsense c.1996 p.E666* 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 356 0 0.00 199 126 38.77 - - - GRIP1 0 genome.wustl.edu 37 12 66742819 66742819 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 66742819 66742819 C T SNP GRIP1 ENST00000359742 human ensembl 69_37n -1 known missense c.3367 p.E1123K 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 509 1 0.20 380 143 27.34 - - - GTDC1 0 genome.wustl.edu 37 2 144714895 144714895 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 144714895 144714895 C G SNP GTDC1 ENST00000344850 human ensembl 69_37n -1 known missense c.997 p.E333Q 1.000 pfam_Glyco_trans_1 pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 160 0 0.00 117 31 20.95 - - - GYS1 0 genome.wustl.edu 37 19 49494681 49494681 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 49494681 49494681 C T SNP GYS1 ENST00000323798 human ensembl 69_37n -1 known missense c.178 p.D60N 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 91 0 0.00 152 22 12.64 - - - H2AFX 0 genome.wustl.edu 37 11 118965982 118965982 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 118965982 118965982 G A SNP H2AFX ENST00000375167 human ensembl 69_37n -1 known silent c.123 p.A41 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFX HGNC ENSG00000188486 69 0 0.00 15 30 66.67 - - - HAND2 0 genome.wustl.edu 37 4 174449901 174449901 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 174449901 174449901 C G SNP HAND2 ENST00000359562 human ensembl 69_37n -1 known missense c.540 p.K180N 0.995 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors HAND2 HGNC ENSG00000164107 330 0 0.00 141 53 27.18 - - - HAPLN3 0 genome.wustl.edu 37 15 89424920 89424920 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 89424920 89424920 G A SNP HAPLN3 ENST00000359595 human ensembl 69_37n -1 known missense c.161 p.P54L 0.951 pfam_Ig_V-set,pfscan_Ig-like pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,prints_Link,pfscan_Link,pfscan_Ig-like - no_errors HAPLN3 HGNC ENSG00000140511 45 0 0.00 36 16 30.77 - - - HCFC2 0 genome.wustl.edu 37 12 104461863 104461863 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 104461863 104461863 G C SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known missense c.451 p.D151H 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 348 0 0.00 319 44 12.12 - - - HCRTR2 0 genome.wustl.edu 37 6 55142342 55142342 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 55142342 55142342 G A SNP HCRTR2 ENST00000370862 human ensembl 69_37n +1 known silent c.927 p.V309 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 298 0 0.00 264 67 20.18 - - - HERC6 0 genome.wustl.edu 37 4 89345780 89345780 + Missense_Mutation SNP A A G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 89345780 89345780 A G SNP HERC6 ENST00000264346 human ensembl 69_37n +1 known missense c.1861 p.S621G 0.989 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 208 0 0.00 108 53 32.92 - - - HGS 0 genome.wustl.edu 37 17 79661866 79661866 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 79661866 79661866 G A SNP HGS ENST00000329138 human ensembl 69_37n +1 known missense c.958 p.E320K 1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 217 0 0.00 233 57 19.66 - - - HIST1H4E 0 genome.wustl.edu 37 6 26205022 26205022 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 26205022 26205022 C T SNP HIST1H4E ENST00000360441 human ensembl 69_37n +1 known silent c.150 p.L50 0.997 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 259 0 0.00 248 45 15.36 - - - HMGCS1 0 genome.wustl.edu 37 5 43294891 43294891 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 43294891 43294891 G C SNP HMGCS1 ENST00000325110 human ensembl 69_37n -1 known silent c.978 p.L326 1.000 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS1 HGNC ENSG00000112972 473 0 0.00 484 101 17.26 - - - HOMER2 0 genome.wustl.edu 37 15 83518649 83518649 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 83518649 83518649 C T SNP HOMER2 ENST00000304231 human ensembl 69_37n -1 known missense c.883 p.E295K 1.000 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER2 HGNC ENSG00000103942 150 0 0.00 117 30 20.27 - - - HPSE2 0 genome.wustl.edu 37 10 100374727 100374727 + Silent SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 100374727 100374727 C G SNP HPSE2 ENST00000370552 human ensembl 69_37n -1 known silent c.1254 p.V418 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 299 0 0.00 220 39 15.00 - - - HSD17B7P2 0 genome.wustl.edu 37 10 38654451 38654451 + RNA SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 38654451 38654451 C T SNP HSD17B7P2 ENST00000494540 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 236 0 0.00 117 72 38.10 - - - HSP90AA1 0 genome.wustl.edu 37 14 102549629 102549629 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 14 102549629 102549629 C G SNP HSP90AA1 ENST00000334701 human ensembl 69_37n -1 known missense c.1863 p.K621N 1.000 pirsf_Hsp90,pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 295 0 0.00 90 132 59.46 - - - HSPA14 0 genome.wustl.edu 37 10 14891732 14891732 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 14891732 14891732 C G SNP HSPA14 ENST00000378372 human ensembl 69_37n +1 known missense c.389 p.S130C 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 295 0 0.00 245 100 28.99 - - - IL20RA 0 genome.wustl.edu 37 6 137323193 137323193 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 137323193 137323193 G A SNP IL20RA ENST00000316649 human ensembl 69_37n -1 known silent c.1164 p.L388 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 127 0 0.00 93 13 12.26 - - - IL5RA 0 genome.wustl.edu 37 3 3137081 3137081 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 3137081 3137081 G A SNP IL5RA ENST00000256452 human ensembl 69_37n -1 known missense c.757 p.R253C 0.000 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 288 0 0.00 346 47 11.87 - - - IRAK1 0 genome.wustl.edu 37 X 153278076 153278076 + Missense_Mutation SNP T T C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 153278076 153278076 T C SNP IRAK1 ENST00000369980 human ensembl 69_37n -1 known missense c.1984 p.I662V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK1 HGNC ENSG00000184216 93 0 0.00 42 66 61.11 - - - ITGA6 0 genome.wustl.edu 37 2 173349861 173349861 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 173349861 173349861 G A SNP ITGA6 ENST00000264106 human ensembl 69_37n +1 known missense c.1840 p.D614N 1.000 pfam_Integrin_alpha-2,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 145 0 0.00 96 38 28.15 - - - ITPKC 0 genome.wustl.edu 37 19 41224139 41224139 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 41224139 41224139 G C SNP ITPKC ENST00000263370 human ensembl 69_37n +1 known missense c.1099 p.E367Q 1.000 NULL pfam_IPK - no_errors ITPKC HGNC ENSG00000086544 21 0 0.00 16 8 33.33 - - - ITPR3 0 genome.wustl.edu 37 6 33662776 33662776 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 33662776 33662776 G A SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known missense c.7861 p.E2621K 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 97 0 0.00 45 65 59.09 - - - KANK2 0 genome.wustl.edu 37 19 11287449 11287449 + Nonsense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 11287449 11287449 G C SNP KANK2 ENST00000432929 human ensembl 69_37n -1 known nonsense c.1589 p.S530* 0.985 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 315 0 0.00 232 36 13.33 - - - KCNB2 0 genome.wustl.edu 37 8 73480416 73480416 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 73480416 73480416 C T SNP KCNB2 ENST00000523207 human ensembl 69_37n +1 known silent c.447 p.N149 0.175 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 180 0 0.00 115 111 48.90 - - - KCNT2 0 genome.wustl.edu 37 1 196397237 196397237 + Nonsense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 196397237 196397237 G A SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known nonsense c.982 p.Q328* 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 215 0 0.00 233 30 11.36 - - - KIT 0 genome.wustl.edu 37 4 55561716 55561716 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 55561716 55561716 C A SNP KIT ENST00000288135 human ensembl 69_37n +1 known missense c.106 p.P36T 0.051 pirsf_Tyr_kinase_CSF1/PDGF_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,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors KIT HGNC ENSG00000157404 247 0 0.00 194 51 20.82 - - - KLF6 0 genome.wustl.edu 37 10 3824269 3824269 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 3824269 3824269 C G SNP KLF6 ENST00000497571 human ensembl 69_37n -1 known missense c.240 p.K80N 0.880 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 304 0 0.00 148 66 30.84 - - - KNTC1 0 genome.wustl.edu 37 12 123089155 123089155 + Nonsense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 123089155 123089155 G T SNP KNTC1 ENST00000333479 human ensembl 69_37n +1 known nonsense c.5146 p.E1716* 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 276 0 0.00 213 37 14.80 - - - KRTAP26-1 0 genome.wustl.edu 37 21 31692282 31692282 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 21 31692282 31692282 G C SNP KRTAP26-1 ENST00000360542 human ensembl 69_37n -1 known silent c.72 p.L24 0.000 pfam_PMG pfam_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 288 0 0.00 267 46 14.70 - - - LAMB1 0 genome.wustl.edu 37 7 107577624 107577624 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 107577624 107577624 G A SNP LAMB1 ENST00000222399 human ensembl 69_37n -1 known missense c.3860 p.S1287F 0.658 superfamily_t-SNARE pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 623 0 0.00 283 339 54.41 - - - LAMC1 0 genome.wustl.edu 37 1 183097764 183097764 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 183097764 183097764 G A SNP LAMC1 ENST00000258341 human ensembl 69_37n +1 known silent c.3159 p.E1053 0.985 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 293 0 0.00 469 68 12.66 - - - LHX2 0 genome.wustl.edu 37 9 126794835 126794835 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 9 126794835 126794835 C G SNP LHX2 ENST00000373615 human ensembl 69_37n +1 known missense c.1070 p.S357W 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX2 HGNC ENSG00000106689 101 0 0.00 60 27 31.03 - - - LILRB3 0 genome.wustl.edu 37 19 54723032 54723032 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 54723032 54723032 G C SNP LILRB3 ENST00000407860 human ensembl 69_37n -1 known silent c.1443 p.L481 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB3 HGNC ENSG00000204577 289 0 0.00 354 67 15.91 - - - LRP1 0 genome.wustl.edu 37 12 57592378 57592378 + Nonsense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 57592378 57592378 G T SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known nonsense c.9601 p.E3201* 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 84 0 0.00 84 14 14.29 - - - LRP2 0 genome.wustl.edu 37 2 169995097 169995097 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 169995097 169995097 G A SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.13508 p.S4503L 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 143 0 0.00 229 37 13.81 - - - LRRC48 0 genome.wustl.edu 37 17 17910739 17910739 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 17910739 17910739 G C SNP LRRC48 ENST00000399182 human ensembl 69_37n +1 known missense c.1354 p.E452Q 0.002 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 436 0 0.00 187 136 42.11 - - - MCF2L 0 genome.wustl.edu 37 13 113719306 113719306 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 13 113719306 113719306 C T SNP MCF2L ENST00000375604 human ensembl 69_37n +1 known silent c.834 p.F278 0.990 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 105 0 0.00 47 46 48.94 - - - MCTP1 0 genome.wustl.edu 37 5 94353075 94353075 + Silent SNP T T G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 94353075 94353075 T G SNP MCTP1 ENST00000515393 human ensembl 69_37n -1 known silent c.834 p.R278 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 217 0 0.00 151 30 16.48 - - - MEN1 0 genome.wustl.edu 37 11 64577195 64577195 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 64577195 64577195 G C SNP MEN1 ENST00000337652 human ensembl 69_37n -1 known silent c.387 p.L129 0.994 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 167 1 0.60 60 122 67.03 - - - METTL17 0 genome.wustl.edu 37 14 21464955 21464955 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 14 21464955 21464955 G A SNP METTL17 ENST00000339374 human ensembl 69_37n +1 known missense c.1277 p.R426H 1.000 pfam_Ribosomal_Rsm22_bac-type pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 383 0 0.00 339 112 24.83 - - - MICAL2 0 genome.wustl.edu 37 11 12263947 12263947 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 12263947 12263947 C T SNP MICAL2 ENST00000256194 human ensembl 69_37n +1 known missense c.2524 p.R842W 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL2 HGNC ENSG00000133816 71 0 0.00 39 28 41.79 - - - MKL2 0 genome.wustl.edu 37 16 14334208 14334208 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 14334208 14334208 G A SNP MKL2 ENST00000341243 human ensembl 69_37n +1 known missense c.913 p.E305K 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 174 0 0.00 150 74 33.04 - - - MLL2 0 genome.wustl.edu 37 12 49426957 49426957 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 49426957 49426957 C A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.11531 p.G3844V 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 73 0 0.00 70 10 12.50 - - - MLXIPL 0 genome.wustl.edu 37 7 73011917 73011917 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 73011917 73011917 G A SNP MLXIPL ENST00000313375 human ensembl 69_37n -1 known missense c.1198 p.P400S 0.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MLXIPL HGNC ENSG00000009950 18 0 0.00 20 8 28.57 - - - MRPL2 0 genome.wustl.edu 37 6 43025966 43025966 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 43025966 43025966 C T SNP MRPL2 ENST00000388752 human ensembl 69_37n -1 known missense c.102 p.M34I 0.008 NULL pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like - no_errors MRPL2 HGNC ENSG00000112651 429 0 0.00 382 58 13.18 - - - MTPAP 0 genome.wustl.edu 37 10 30602867 30602867 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 30602867 30602867 G C SNP MTPAP ENST00000358107 human ensembl 69_37n -1 known missense c.1810 p.L604V 0.762 pfam_PAP_assoc pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 55 0 0.00 18 9 33.33 - - - MUC12 0 genome.wustl.edu 37 7 100635956 100635956 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 100635956 100635956 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known silent c.2541 p.S847 0.002 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 1022 1 0.10 656 170 20.53 - - - MUC16 0 genome.wustl.edu 37 19 9059268 9059268 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 9059268 9059268 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.28178 p.P9393L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 358 0 0.00 228 40 14.93 - - - MYH2 0 genome.wustl.edu 37 17 10435109 10435109 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 10435109 10435109 C T SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known silent c.2538 p.L846 0.861 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 497 1 0.20 336 74 18.05 - - - MYO1E 0 genome.wustl.edu 37 15 59515261 59515261 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 59515261 59515261 C G SNP MYO1E ENST00000288235 human ensembl 69_37n -1 known missense c.907 p.E303Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 148 0 0.00 163 22 11.89 - - - MYT1L 0 genome.wustl.edu 37 2 1795704 1795704 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 1795704 1795704 G C SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.3496 p.Q1166E 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 421 0 0.00 245 108 30.59 - - - NAPSB 0 genome.wustl.edu 37 19 50840292 50840292 + RNA SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 50840292 50840292 C G SNP NAPSB ENST00000527780 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors NAPSB HGNC ENSG00000131401 107 0 0.00 168 33 16.42 - - - NARFL 0 genome.wustl.edu 37 16 787197 787197 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 787197 787197 C G SNP NARFL ENST00000251588 human ensembl 69_37n -1 known missense c.295 p.D99H 0.000 superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 154 0 0.00 121 55 31.25 - - - NDUFA9 0 genome.wustl.edu 37 12 4796219 4796219 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 4796219 4796219 G A SNP NDUFA9 ENST00000266544 human ensembl 69_37n +1 known missense c.1079 p.R360H 1.000 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 162 1 0.61 197 56 21.96 - - - NEBL 0 genome.wustl.edu 37 10 21186095 21186095 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 21186095 21186095 C T SNP NEBL ENST00000377122 human ensembl 69_37n -1 known missense c.40 p.E14K 0.105 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 509 0 0.00 411 159 27.89 - - - NEDD4L 0 genome.wustl.edu 37 18 55833023 55833023 + Splice_Site SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 18 55833023 55833023 G C SNP NEDD4L ENST00000591989 human ensembl 69_37n +1 known splice_site c.NULL NULL 1.000 - - - no_errors NEDD4L HGNC ENSG00000049759 509 0 0.00 187 176 48.48 - - - NEIL1 0 genome.wustl.edu 37 15 75641571 75641571 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 75641571 75641571 C T SNP NEIL1 ENST00000355059 human ensembl 69_37n +1 known missense c.325 p.R109W 0.401 pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 20 0 0.00 11 17 60.71 - - - NES 0 genome.wustl.edu 37 1 156639318 156639318 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 156639318 156639318 C A SNP NES ENST00000368223 human ensembl 69_37n -1 known missense c.4662 p.M1554I 0.000 NULL pfam_F - no_errors NES HGNC ENSG00000132688 50 0 0.00 83 17 17.00 - - - NES 0 genome.wustl.edu 37 1 156641606 156641606 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 156641606 156641606 C G SNP NES ENST00000368223 human ensembl 69_37n -1 known missense c.2374 p.D792H 0.001 NULL pfam_F - no_errors NES HGNC ENSG00000132688 254 0 0.00 213 30 12.35 - - - NFATC2 0 genome.wustl.edu 37 20 50090599 50090599 + Silent SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 20 50090599 50090599 C G SNP NFATC2 ENST00000396009 human ensembl 69_37n -1 known silent c.1626 p.V542 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD 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 NFATC2 HGNC ENSG00000101096 199 0 0.00 284 35 10.94 - - - NLRC5 0 genome.wustl.edu 37 16 57075485 57075485 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 57075485 57075485 G A SNP NLRC5 ENST00000262510 human ensembl 69_37n +1 known missense c.3028 p.D1010N 0.971 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 133 0 0.00 68 50 42.37 - - - NLRP1 0 genome.wustl.edu 37 17 5418221 5418221 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 5418221 5418221 C G SNP NLRP1 ENST00000572272 human ensembl 69_37n -1 known missense c.4275 p.Q1425H 0.907 pfam_CARD,superfamily_DEATH-like,pfscan_CARD 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 211 0 0.00 121 29 19.33 - - - NMRK2 0 genome.wustl.edu 37 19 3938653 3938653 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 3938653 3938653 G A SNP NMRK2 ENST00000168977 human ensembl 69_37n +1 known silent c.219 p.L73 0.009 NULL NULL - no_errors NMRK2 HGNC ENSG00000077009 42 0 0.00 15 36 70.59 - - - NREP 0 genome.wustl.edu 37 5 111311071 111311071 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 111311071 111311071 C T SNP NREP ENST00000395634 human ensembl 69_37n -1 known missense c.35 p.R12Q 0.000 NULL pfam_Neuronal_3.1 - no_errors NREP HGNC ENSG00000134986 365 0 0.00 285 53 15.63 - - - NRG3 0 genome.wustl.edu 37 10 84738797 84738797 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 84738797 84738797 C G SNP NRG3 ENST00000404547 human ensembl 69_37n +1 known missense c.1504 p.L502V 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 179 0 0.00 338 44 11.52 - - - NUP107 0 genome.wustl.edu 37 12 69103830 69103830 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 69103830 69103830 G A SNP NUP107 ENST00000229179 human ensembl 69_37n +1 known missense c.847 p.E283K 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 316 0 0.00 260 30 10.31 - - - OASL 0 genome.wustl.edu 37 12 121469412 121469412 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 121469412 121469412 G T SNP OASL ENST00000257570 human ensembl 69_37n -1 known missense c.490 p.L164I 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 88 0 0.00 79 17 17.71 - - - OBSL1 0 genome.wustl.edu 37 2 220416900 220416900 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 220416900 220416900 C T SNP OBSL1 ENST00000404537 human ensembl 69_37n -1 known missense c.5347 p.E1783K 0.998 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 32 0 0.00 41 29 41.43 - - - ODZ4 0 genome.wustl.edu 37 11 78380233 78380233 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 78380233 78380233 C A SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.7157 p.G2386V 1.000 tigrfam_Rhs_assc_core pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 228 0 0.00 89 115 56.37 - - - OPLAH 0 genome.wustl.edu 37 8 145112528 145112528 + RNA SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 145112528 145112528 G A SNP OPLAH ENST00000426825 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors OPLAH HGNC ENSG00000178814 38 0 0.00 27 25 47.17 - - - OR10J3 0 genome.wustl.edu 37 1 159283656 159283656 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 159283656 159283656 G C SNP OR10J3 ENST00000332217 human ensembl 69_37n -1 known missense c.794 p.S265C 0.997 pfam_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 255 0 0.00 203 159 43.92 - - - OR2D3 0 genome.wustl.edu 37 11 6942948 6942948 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 6942948 6942948 C A SNP OR2D3 ENST00000317834 human ensembl 69_37n +1 known missense c.716 p.S239Y 0.671 pfam_7TM_GPCR_Rhodpsn,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 OR2D3 HGNC ENSG00000178358 381 0 0.00 262 157 37.38 - - - OR2M4 0 genome.wustl.edu 37 1 248402510 248402510 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 248402510 248402510 C T SNP OR2M4 ENST00000306687 human ensembl 69_37n +1 known silent c.280 p.L94 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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 OR2M4 HGNC ENSG00000171180 625 0 0.00 591 346 36.85 - - - OR4C16 0 genome.wustl.edu 37 11 55340352 55340352 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 55340352 55340352 G T SNP OR4C16 ENST00000314634 human ensembl 69_37n +1 known missense c.749 p.G250V 0.008 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 OR4C16 HGNC ENSG00000181935 332 0 0.00 299 60 16.71 - - - OR4K1 0 genome.wustl.edu 37 14 20404299 20404299 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 14 20404299 20404299 C T SNP OR4K1 ENST00000285600 human ensembl 69_37n +1 known silent c.474 p.S158 0.006 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 393 0 0.00 386 148 27.56 - - - OR52E4 0 genome.wustl.edu 37 11 5905606 5905606 + Nonsense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 5905606 5905606 G A SNP OR52E4 ENST00000316987 human ensembl 69_37n +1 known nonsense c.84 p.W28* 0.999 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52E4 HGNC ENSG00000180974 332 0 0.00 205 138 40.23 - - - OR5M8 0 genome.wustl.edu 37 11 56258639 56258639 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 56258639 56258639 G A SNP OR5M8 ENST00000327216 human ensembl 69_37n -1 known silent c.208 p.L70 0.378 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 OR5M8 HGNC ENSG00000181371 107 0 0.00 42 58 58.00 - - - OR6P1 0 genome.wustl.edu 37 1 158532579 158532579 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 158532579 158532579 C T SNP OR6P1 ENST00000334632 human ensembl 69_37n -1 known silent c.816 p.K272 0.069 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 OR6P1 HGNC ENSG00000186440 292 0 0.00 272 149 35.39 - - - OSBP2 0 genome.wustl.edu 37 22 31301872 31301872 + Nonsense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 22 31301872 31301872 C T SNP OSBP2 ENST00000452656 human ensembl 69_37n +1 novel nonsense c.1132 p.Q378* 1.000 NULL pfam_Oxysterol-bd - no_start_codon OSBP2 HGNC ENSG00000184792 22 0 0.00 20 7 25.93 - - - PADI3 0 genome.wustl.edu 37 1 17599840 17599840 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 17599840 17599840 G C SNP PADI3 ENST00000375460 human ensembl 69_37n +1 known missense c.1053 p.E351D 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 102 0 0.00 60 11 15.28 - - - PAGE2 0 genome.wustl.edu 37 X 55117845 55117845 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 X 55117845 55117845 G A SNP PAGE2 ENST00000374968 human ensembl 69_37n +1 known missense c.274 p.E92K 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE2 HGNC ENSG00000234068 747 0 0.00 522 601 53.42 - - - PAK1 0 genome.wustl.edu 37 11 77036380 77036380 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 77036380 77036380 C G SNP PAK1 ENST00000278568 human ensembl 69_37n -1 known missense c.1593 p.M531I 0.017 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK1 HGNC ENSG00000149269 172 0 0.00 75 117 60.94 - - - PANK4 0 genome.wustl.edu 37 1 2447048 2447048 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 2447048 2447048 G T SNP PANK4 ENST00000378466 human ensembl 69_37n -1 known missense c.1327 p.L443M 0.763 superfamily_DUF89,pirsf_PanK_long pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 99 0 0.00 80 11 12.09 - - - PARK2 0 genome.wustl.edu 37 6 161969928 161969928 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 161969928 161969928 C G SNP PARK2 ENST00000366898 human ensembl 69_37n -1 known missense c.1041 p.Q347H 0.004 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup - no_errors PARK2 HGNC ENSG00000185345 58 0 0.00 26 17 39.53 - - - PARP1 0 genome.wustl.edu 37 1 226568860 226568860 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 226568860 226568860 C T SNP PARP1 ENST00000366794 human ensembl 69_37n -1 known silent c.1209 p.R403 0.989 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_NAD_ADPRT,pfscan_BRCT_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 294 0 0.00 409 63 13.29 - - - PBK 0 genome.wustl.edu 37 8 27668640 27668640 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 27668640 27668640 C T SNP PBK ENST00000301905 human ensembl 69_37n -1 known missense c.607 p.E203K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PBK HGNC ENSG00000168078 229 0 0.00 143 38 20.99 - - - PCBP1 0 genome.wustl.edu 37 2 70314894 70314894 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 70314894 70314894 G C SNP PCBP1 ENST00000303577 human ensembl 69_37n +1 known missense c.19 p.E7Q 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC ENSG00000169564 120 0 0.00 104 20 16.13 - - - PCDH10 0 genome.wustl.edu 37 4 134073569 134073569 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 134073569 134073569 C T SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known silent c.2274 p.L758 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 54 0 0.00 68 11 13.75 - - - PCDHA7 0 genome.wustl.edu 37 5 140215216 140215216 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 140215216 140215216 G C SNP PCDHA7 ENST00000525929 human ensembl 69_37n +1 known missense c.1248 p.E416D 0.798 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 93 0 0.00 86 21 19.63 - - - PCLO 0 genome.wustl.edu 37 7 82784780 82784780 + Nonsense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 82784780 82784780 G A SNP PCLO ENST00000333891 human ensembl 69_37n -1 known nonsense c.1177 p.Q393* 0.846 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 238 0 0.00 159 25 13.59 - - - PDCD11 0 genome.wustl.edu 37 10 105200072 105200072 + Nonsense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 105200072 105200072 G T SNP PDCD11 ENST00000369797 human ensembl 69_37n +1 known nonsense c.4174 p.E1392* 0.588 superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 171 0 0.00 101 23 18.55 - - - PDCL3 0 genome.wustl.edu 37 2 101186079 101186079 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 101186079 101186079 G A SNP PDCL3 ENST00000450127 human ensembl 69_37n +1 putative missense c.107 p.R36K 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Antitoxin_Phd/YefM pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Antitoxin_Phd/YefM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PDCL3 HGNC ENSG00000115539 244 0 0.00 210 78 27.08 - - - PDK1 0 genome.wustl.edu 37 2 173423483 173423483 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 173423483 173423483 G C SNP PDK1 ENST00000282077 human ensembl 69_37n +1 known missense c.244 p.E82Q 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK1 HGNC ENSG00000152256 448 0 0.00 339 147 30.18 - - - PEX3 0 genome.wustl.edu 37 6 143806383 143806383 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 143806383 143806383 C G SNP PEX3 ENST00000367591 human ensembl 69_37n +1 known missense c.1036 p.Q346E 1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 302 0 0.00 192 189 49.35 - - - PHC3 0 genome.wustl.edu 37 3 169847313 169847313 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 169847313 169847313 G C SNP PHC3 ENST00000495893 human ensembl 69_37n -1 known missense c.947 p.S316C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 425 0 0.00 328 218 39.85 - - - PHF20L1 0 genome.wustl.edu 37 8 133836315 133836315 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 133836315 133836315 G C SNP PHF20L1 ENST00000395383 human ensembl 69_37n +1 novel missense c.1658 p.R553T 1.000 NULL pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 233 0 0.00 271 63 18.86 - - - PI4K2A 0 genome.wustl.edu 37 10 99416641 99416641 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 99416641 99416641 G A SNP PI4K2A ENST00000370631 human ensembl 69_37n +1 known missense c.832 p.E278K 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 181 0 0.00 158 38 19.00 - - - PKHD1L1 0 genome.wustl.edu 37 8 110523136 110523136 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 110523136 110523136 G C SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known silent c.11526 p.L3842 0.999 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 268 0 0.00 133 170 55.92 - - - PLA2G4A 0 genome.wustl.edu 37 1 186908212 186908212 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 186908212 186908212 G T SNP PLA2G4A ENST00000367466 human ensembl 69_37n +1 known missense c.768 p.M256I 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 458 0 0.00 470 76 13.87 - - - PLA2G4A 0 genome.wustl.edu 37 1 186925342 186925342 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 186925342 186925342 G C SNP PLA2G4A ENST00000367466 human ensembl 69_37n +1 known missense c.1445 p.R482T 0.999 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 377 0 0.00 402 194 32.55 - - - PLD3 0 genome.wustl.edu 37 19 40880424 40880424 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 40880424 40880424 C G SNP PLD3 ENST00000356508 human ensembl 69_37n +1 known missense c.916 p.P306A 1.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 173 0 0.00 115 42 26.58 - - - PLEKHM1 0 genome.wustl.edu 37 17 43545712 43545712 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 43545712 43545712 C G SNP PLEKHM1 ENST00000430334 human ensembl 69_37n -1 known missense c.1171 p.E391Q 0.001 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 169 0 0.00 160 19 10.61 - - - PLSCR2 0 genome.wustl.edu 37 3 146173028 146173028 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 146173028 146173028 C T SNP PLSCR2 ENST00000336685 human ensembl 69_37n -1 known missense c.319 p.E107K 0.998 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR2 HGNC ENSG00000163746 248 0 0.00 275 56 16.92 - - - PMFBP1 0 genome.wustl.edu 37 16 72188209 72188209 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 72188209 72188209 C G SNP PMFBP1 ENST00000537465 human ensembl 69_37n -1 known missense c.315 p.Q105H 0.984 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 341 0 0.00 244 108 30.51 - - - POR 0 genome.wustl.edu 37 7 75609733 75609735 + In_Frame_Del DEL CCA CCA - TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 75609733 75609735 CCA - DEL POR ENST00000461988 human ensembl 69_37n +1 known in_frame_del c.443_445 p.T149in_frame_del 1.000:0.998:1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth - no_errors POR HGNC ENSG00000127948 55 0 0.00 59 9 13.04 - - - PPM1L 0 genome.wustl.edu 37 3 160786638 160786638 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 160786638 160786638 G A SNP PPM1L ENST00000498165 human ensembl 69_37n +1 known missense c.776 p.G259E 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1L HGNC ENSG00000163590 211 0 0.00 208 77 26.92 - - - PPP4R4 0 genome.wustl.edu 37 14 94744955 94744955 + Splice_Site SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 14 94744955 94744955 G C SNP PPP4R4 ENST00000304338 human ensembl 69_37n +1 known splice_site c.2598-1 e25-1 1.000 - - - no_errors PPP4R4 HGNC ENSG00000119698 197 0 0.00 80 123 60.59 - - - PREPL 0 genome.wustl.edu 37 2 44548923 44548923 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 44548923 44548923 C T SNP PREPL ENST00000420756 human ensembl 69_37n -1 novel silent c.282 p.*94 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PREPL HGNC ENSG00000138078 197 0 0.00 126 26 17.11 - - - PRPF8 0 genome.wustl.edu 37 17 1564924 1564924 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 1564924 1564924 C G SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known missense c.4183 p.E1395Q 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 121 0 0.00 94 23 19.49 - - - PTDSS1 0 genome.wustl.edu 37 8 97274286 97274286 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 97274286 97274286 G C SNP PTDSS1 ENST00000517309 human ensembl 69_37n +1 known silent c.18 p.G6 1.000 NULL pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 100 0 0.00 129 37 22.29 - - - PTK2 0 genome.wustl.edu 37 8 141900716 141900716 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 141900716 141900716 G A SNP PTK2 ENST00000395218 human ensembl 69_37n -1 known missense c.121 p.H41Y 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 143 0 0.00 209 49 18.99 - - - PTPN22 0 genome.wustl.edu 37 1 114380359 114380359 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 114380359 114380359 C G SNP PTPN22 ENST00000359785 human ensembl 69_37n -1 known missense c.1663 p.E555Q 0.008 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 303 0 0.00 340 66 16.26 - - - PTPN6 0 genome.wustl.edu 37 12 7064127 7064127 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 7064127 7064127 C T SNP PTPN6 ENST00000541698 human ensembl 69_37n +1 putative missense c.386 p.S129L 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_stop_codon:bad_bp_length_for_coding_region PTPN6 HGNC ENSG00000111679 75 0 0.00 54 37 40.66 - - - RAB3A 0 genome.wustl.edu 37 19 18309660 18309660 + Splice_Site SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 18309660 18309660 C G SNP RAB3A ENST00000222256 human ensembl 69_37n -1 known splice_site c.348-1 e3-1 1.000 - - - no_errors RAB3A HGNC ENSG00000105649 150 0 0.00 111 31 21.68 - - - RAB3GAP2 0 genome.wustl.edu 37 1 220330691 220330691 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 220330691 220330691 G C SNP RAB3GAP2 ENST00000358951 human ensembl 69_37n -1 known missense c.3476 p.S1159C 0.744 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 153 0 0.00 239 31 11.40 - - - RBM44 0 genome.wustl.edu 37 2 238725683 238725683 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 238725683 238725683 G A SNP RBM44 ENST00000316997 human ensembl 69_37n +1 known missense c.124 p.G42S 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 156 0 0.00 64 21 24.71 - - - RETNLB 0 genome.wustl.edu 37 3 108475375 108475375 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 108475375 108475375 C G SNP RETNLB ENST00000295755 human ensembl 69_37n -1 known missense c.188 p.R63T 0.000 pfam_Resistin,superfamily_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETNLB HGNC ENSG00000163515 165 0 0.00 161 39 19.50 - - - RIMS1 0 genome.wustl.edu 37 6 73110378 73110378 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 73110378 73110378 C G SNP RIMS1 ENST00000521978 human ensembl 69_37n +1 known missense c.5041 p.L1681V 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 168 0 0.00 124 37 22.98 - - - RIPK1 0 genome.wustl.edu 37 6 3111036 3111036 + Splice_Site SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 3111036 3111036 G A SNP RIPK1 ENST00000259808 human ensembl 69_37n +1 known splice_site c.1577-1 e9-1 0.999 - - - no_errors RIPK1 HGNC ENSG00000137275 196 0 0.00 156 23 12.71 - - - RNF182 0 genome.wustl.edu 37 6 13978083 13978083 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 13978083 13978083 C A SNP RNF182 ENST00000488300 human ensembl 69_37n +1 known missense c.733 p.P245T 0.982 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 340 0 0.00 268 45 14.33 - - - RPE65 0 genome.wustl.edu 37 1 68895512 68895512 + Nonsense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 68895512 68895512 C A SNP RPE65 ENST00000262340 human ensembl 69_37n -1 known nonsense c.1549 p.E517* 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 203 0 0.00 78 87 52.73 - - - RPS2 0 genome.wustl.edu 37 16 2014292 2014292 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 2014292 2014292 G T SNP RPS2 ENST00000343262 human ensembl 69_37n -1 known missense c.252 p.F84L 1.000 tigrfam_Ribosomal_S5_euk/arc pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc - no_errors RPS2 HGNC ENSG00000140988 100 0 0.00 76 33 30.28 - - - RPS27 0 genome.wustl.edu 37 1 153963702 153963702 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 153963702 153963702 G C SNP RPS27 ENST00000392558 human ensembl 69_37n +1 known missense c.118 p.E40Q 0.998 NULL NULL - no_errors RPS27 HGNC ENSG00000177954 103 1 0.96 102 43 29.66 - - - SCAF11 0 genome.wustl.edu 37 12 46320776 46320776 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 46320776 46320776 G A SNP SCAF11 ENST00000369367 human ensembl 69_37n -1 known missense c.2708 p.P903L 0.997 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 183 0 0.00 176 37 17.37 - - - SCAND3 0 genome.wustl.edu 37 6 28540923 28540923 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 28540923 28540923 G C SNP SCAND3 ENST00000452236 human ensembl 69_37n -1 known missense c.2743 p.L915V 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 220 0 0.00 174 74 29.84 - - - SCARB2 0 genome.wustl.edu 37 4 77100771 77100771 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 77100771 77100771 G C SNP SCARB2 ENST00000264896 human ensembl 69_37n -1 known missense c.511 p.H171D 0.995 pfam_CD36,prints_LimpII pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC ENSG00000138760 173 0 0.00 310 106 25.42 - - - SCGB1D2 0 genome.wustl.edu 37 11 62009821 62009821 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 62009821 62009821 C T SNP SCGB1D2 ENST00000244926 human ensembl 69_37n +1 known silent c.42 p.L14 0.994 pfam_Uteroglobin-like_superfam pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin - no_errors SCGB1D2 HGNC ENSG00000124935 241 0 0.00 105 195 65.00 - - - SCML4 0 genome.wustl.edu 37 6 108041958 108041958 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 108041958 108041958 G C SNP SCML4 ENST00000369021 human ensembl 69_37n -1 known missense c.835 p.P279A 0.999 NULL pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 96 0 0.00 111 14 11.20 - - - SDCCAG8 0 genome.wustl.edu 37 1 243449584 243449584 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 243449584 243449584 C G SNP SDCCAG8 ENST00000366541 human ensembl 69_37n +1 known missense c.431 p.S144C 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 158 0 0.00 156 52 24.88 - - - SEC14L1 0 genome.wustl.edu 37 17 75196587 75196587 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 75196587 75196587 C G SNP SEC14L1 ENST00000392476 human ensembl 69_37n +1 known missense c.841 p.L281V 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 234 0 0.00 263 34 11.45 - - - SEC24A 0 genome.wustl.edu 37 5 134011803 134011803 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 134011803 134011803 C T SNP SEC24A ENST00000398844 human ensembl 69_37n +1 known silent c.1242 p.F414 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 254 0 0.00 161 30 15.62 - - - SEC24B 0 genome.wustl.edu 37 4 110384524 110384524 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 110384524 110384524 C T SNP SEC24B ENST00000265175 human ensembl 69_37n +1 known silent c.601 p.L201 0.998 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 649 0 0.00 394 189 32.42 - - - SERPINI2 0 genome.wustl.edu 37 3 167184951 167184951 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 167184951 167184951 G C SNP SERPINI2 ENST00000264677 human ensembl 69_37n -1 known missense c.370 p.L124V 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINI2 HGNC ENSG00000114204 320 0 0.00 340 125 26.82 - - - SFTPD 0 genome.wustl.edu 37 10 81706230 81706230 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 10 81706230 81706230 C A SNP SFTPD ENST00000372292 human ensembl 69_37n -1 known missense c.186 p.E62D 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 113 0 0.00 143 27 15.88 - - - SGK1 0 genome.wustl.edu 37 6 134498933 134498933 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 134498933 134498933 C T SNP SGK1 ENST00000528577 human ensembl 69_37n -1 known missense c.28 p.E10K 0.038 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK1 HGNC ENSG00000118515 240 0 0.00 282 41 12.69 - - - SHCBP1L 0 genome.wustl.edu 37 1 182898837 182898837 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 182898837 182898837 C G SNP SHCBP1L ENST00000367547 human ensembl 69_37n -1 known missense c.1127 p.R376T 1.000 smart_Carb-bd_sugar_hydrolysis-dom superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 433 0 0.00 409 186 31.21 - - - SIGLEC5 0 genome.wustl.edu 37 19 52132711 52132711 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 52132711 52132711 G A SNP SIGLEC5 ENST00000222107 human ensembl 69_37n -1 known silent c.600 p.L200 0.082 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC ENSG00000105501 293 0 0.00 477 73 13.25 - - - SIGLEC7 0 genome.wustl.edu 37 19 51649334 51649334 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 51649334 51649334 C T SNP SIGLEC7 ENST00000317643 human ensembl 69_37n +1 known missense c.983 p.S328F 0.604 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 209 0 0.00 213 139 39.49 - - - SIRPG 0 genome.wustl.edu 37 20 1617003 1617003 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 20 1617003 1617003 C G SNP SIRPG ENST00000303415 human ensembl 69_37n -1 known missense c.579 p.Q193H 0.023 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPG HGNC ENSG00000089012 617 0 0.00 533 167 23.86 - - - SLC13A2 0 genome.wustl.edu 37 17 26824217 26824217 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 26824217 26824217 C G SNP SLC13A2 ENST00000444914 human ensembl 69_37n +1 known missense c.1856 p.S619C 0.124 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 131 0 0.00 161 19 10.56 - - - SLC28A1 0 genome.wustl.edu 37 15 85431031 85431031 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 85431031 85431031 C G SNP SLC28A1 ENST00000286749 human ensembl 69_37n +1 known missense c.40 p.L14V 0.020 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 206 0 0.00 264 37 12.29 - - - SLC2A1 0 genome.wustl.edu 37 1 43393372 43393372 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 43393372 43393372 G A SNP SLC2A1 ENST00000426263 human ensembl 69_37n -1 known silent c.1182 p.L394 0.997 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_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 112 0 0.00 96 19 16.24 - - - SLC38A9 0 genome.wustl.edu 37 5 54931483 54931483 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 54931483 54931483 C T SNP SLC38A9 ENST00000318672 human ensembl 69_37n -1 known silent c.1170 p.V390 0.989 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 239 0 0.00 227 78 25.49 - - - SLC44A1 0 genome.wustl.edu 37 9 108127819 108127819 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 9 108127819 108127819 C T SNP SLC44A1 ENST00000374720 human ensembl 69_37n +1 known missense c.1309 p.R437C 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 290 0 0.00 113 171 60.21 - - - SLC4A2 0 genome.wustl.edu 37 7 150765003 150765003 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 150765003 150765003 G A SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.1009 p.E337K 1.000 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 99 0 0.00 83 27 24.55 - - - SLC9C2 0 genome.wustl.edu 37 1 173493933 173493933 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 173493933 173493933 G A SNP SLC9C2 ENST00000367714 human ensembl 69_37n -1 known silent c.2499 p.V833 0.001 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 386 0 0.00 440 178 28.80 - - - SLCO1B1 0 genome.wustl.edu 37 12 21353576 21353576 + Nonsense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 21353576 21353576 C T SNP SLCO1B1 ENST00000256958 human ensembl 69_37n +1 known nonsense c.1105 p.Q369* 0.019 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 355 0 0.00 376 151 28.60 - - - SMARCC1 0 genome.wustl.edu 37 3 47719698 47719698 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 47719698 47719698 C A SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known missense c.1561 p.A521S 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pfscan_SWIRM 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 326 1 0.31 260 37 12.46 - - - SMARCC2 0 genome.wustl.edu 37 12 56561849 56561849 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 56561849 56561849 C T SNP SMARCC2 ENST00000267064 human ensembl 69_37n -1 known missense c.2752 p.E918K 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 243 0 0.00 278 41 12.85 - - - SMG6 0 genome.wustl.edu 37 17 2203954 2203954 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 2203954 2203954 G T SNP SMG6 ENST00000263073 human ensembl 69_37n -1 known missense c.93 p.N31K 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 80 0 0.00 43 5 10.20 - - - SNRNP35 0 genome.wustl.edu 37 12 123950359 123950359 + Nonsense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 123950359 123950359 C G SNP SNRNP35 ENST00000412157 human ensembl 69_37n +1 known nonsense c.287 p.S96* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 123 0 0.00 134 23 14.65 - - - SNRNP35 0 genome.wustl.edu 37 12 123950612 123950612 + Silent SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 123950612 123950612 C G SNP SNRNP35 ENST00000412157 human ensembl 69_37n +1 known silent c.540 p.L180 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 93 0 0.00 93 16 14.68 - - - SNX6 0 genome.wustl.edu 37 14 35077312 35077312 + Nonsense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 14 35077312 35077312 G A SNP SNX6 ENST00000556712 human ensembl 69_37n -1 known nonsense c.211 p.Q71* 1.000 pfam_Phox,superfamily_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,pfscan_Phox - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SNX6 HGNC ENSG00000129515 278 0 0.00 125 66 34.55 - - - SOX7 0 genome.wustl.edu 37 8 10587809 10587809 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 10587809 10587809 G A SNP SOX7 ENST00000304501 human ensembl 69_37n -1 known silent c.135 p.I45 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sox_C_TAD,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX7 HGNC ENSG00000171056 12 0 0.00 9 9 50.00 - - - SPINK5 0 genome.wustl.edu 37 5 147493927 147493927 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 147493927 147493927 G T SNP SPINK5 ENST00000359874 human ensembl 69_37n +1 known missense c.1890 p.E630D 0.016 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 117 1 0.85 78 11 12.36 - - - SPRED1 0 genome.wustl.edu 37 15 38614513 38614513 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 38614513 38614513 G C SNP SPRED1 ENST00000299084 human ensembl 69_37n +1 known missense c.279 p.K93N 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED1 HGNC ENSG00000166068 261 0 0.00 137 132 48.89 - - - STK31 0 genome.wustl.edu 37 7 23809284 23809284 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 7 23809284 23809284 C T SNP STK31 ENST00000355870 human ensembl 69_37n +1 known missense c.1622 p.S541L 0.048 NULL pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC ENSG00000196335 394 0 0.00 366 66 15.28 - - - SYNE1 0 genome.wustl.edu 37 6 152706962 152706962 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 152706962 152706962 C T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.8499 p.R2833 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 221 0 0.00 239 52 17.87 - - - SYT17 0 genome.wustl.edu 37 16 19191817 19191817 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 16 19191817 19191817 C T SNP SYT17 ENST00000355377 human ensembl 69_37n +1 known missense c.287 p.S96L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 80 0 0.00 72 43 37.39 - - - TBC1D3P5 0 genome.wustl.edu 37 17 25748131 25748131 + RNA SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 25748131 25748131 G C SNP TBC1D3P5 ENST00000581469 human ensembl 69_37n +1 known rna NULL NULL 0.033 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 41 0 0.00 53 8 13.11 - - - TBCCD1 0 genome.wustl.edu 37 3 186272078 186272078 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 186272078 186272078 G A SNP TBCCD1 ENST00000338733 human ensembl 69_37n -1 known silent c.1509 p.I503 0.542 NULL pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 80 0 0.00 75 29 27.88 - - - TEC 0 genome.wustl.edu 37 4 48141011 48141011 + Missense_Mutation SNP A A C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 48141011 48141011 A C SNP TEC ENST00000381501 human ensembl 69_37n -1 known missense c.1564 p.S522A 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors TEC HGNC ENSG00000135605 181 0 0.00 153 32 17.30 - - - TECRL 0 genome.wustl.edu 37 4 65145813 65145813 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 4 65145813 65145813 C A SNP TECRL ENST00000381210 human ensembl 69_37n -1 known missense c.1069 p.A357S 1.000 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 180 0 0.00 72 13 14.94 - - - TEP1 0 genome.wustl.edu 37 14 20856087 20856087 + Silent SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 14 20856087 20856087 G C SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known silent c.2661 p.P887 0.580 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 283 0 0.00 137 136 49.45 - - - TIAM2 0 genome.wustl.edu 37 6 155450974 155450974 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 155450974 155450974 C T SNP TIAM2 ENST00000456144 human ensembl 69_37n +1 known missense c.617 p.S206L 0.019 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 16 0 0.00 13 11 44.00 - - - TJP1 0 genome.wustl.edu 37 15 30053811 30053811 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 30053811 30053811 C G SNP TJP1 ENST00000346128 human ensembl 69_37n -1 known missense c.855 p.E285D 1.000 NULL pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 275 0 0.00 123 62 33.33 - - - TMEM120B 0 genome.wustl.edu 37 12 122186349 122186349 + Splice_Site SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 122186349 122186349 G A SNP TMEM120B ENST00000342607 human ensembl 69_37n +1 known splice_site c.305+1 e3+1 1.000 - - - no_errors TMEM120B HGNC ENSG00000188735 57 0 0.00 41 12 22.64 - - - TMEM167A 0 genome.wustl.edu 37 5 82360907 82360907 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 5 82360907 82360907 C G SNP TMEM167A ENST00000502346 human ensembl 69_37n -1 known missense c.33 p.L11F 1.000 pfam_DUF1242 pfam_DUF1242 - no_errors TMEM167A HGNC ENSG00000174695 159 0 0.00 98 26 20.97 - - - TMEM245 0 genome.wustl.edu 37 9 111812870 111812870 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 9 111812870 111812870 G A SNP TMEM245 ENST00000374586 human ensembl 69_37n -1 known missense c.1957 p.L653F 1.000 pfam_UPF0118 pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 226 0 0.00 221 28 11.20 - - - TMEM59L 0 genome.wustl.edu 37 19 18729040 18729040 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 18729040 18729040 C T SNP TMEM59L ENST00000262817 human ensembl 69_37n +1 known missense c.740 p.S247F 0.005 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 83 0 0.00 84 21 20.00 - - - TOPBP1 0 genome.wustl.edu 37 3 133372333 133372333 + Nonsense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 133372333 133372333 G T SNP TOPBP1 ENST00000508524 human ensembl 69_37n -1 putative nonsense c.312 p.Y104* 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_start_codon:pseudogene:no_stop_codon TOPBP1 HGNC ENSG00000163781 336 0 0.00 283 54 15.98 - - - TP53 0 genome.wustl.edu 37 17 7578268 7578268 + Missense_Mutation SNP A A G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 7578268 7578268 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.581 p.L194P 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 273 0 0.00 101 143 58.61 - - - TPD52 0 genome.wustl.edu 37 8 80965638 80965638 + Nonsense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 80965638 80965638 G C SNP TPD52 ENST00000521354 human ensembl 69_37n -1 known nonsense c.47 p.S16* 1.000 NULL NULL - no_errors TPD52 HGNC ENSG00000076554 417 0 0.00 561 111 16.52 - - - TRIM37 0 genome.wustl.edu 37 17 57126636 57126636 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 17 57126636 57126636 G C SNP TRIM37 ENST00000262294 human ensembl 69_37n -1 known missense c.1433 p.S478C 0.496 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 421 0 0.00 851 130 13.25 - - - TTN 0 genome.wustl.edu 37 2 179441677 179441677 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 179441677 179441677 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.61681 p.E20561Q 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,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 209 0 0.00 193 37 16.09 - - - TTN 0 genome.wustl.edu 37 2 179605821 179605821 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 179605821 179605821 C G SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.11626 p.E3876Q 0.008 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 119 0 0.00 66 19 22.35 - - - UBR3 0 genome.wustl.edu 37 2 170917689 170917689 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 170917689 170917689 G C SNP UBR3 ENST00000272793 human ensembl 69_37n +1 known missense c.4886 p.C1629S 0.991 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 164 0 0.00 252 78 23.64 - - - UFL1 0 genome.wustl.edu 37 6 96997292 96997292 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 6 96997292 96997292 C G SNP UFL1 ENST00000369278 human ensembl 69_37n +1 known missense c.1525 p.L509V 0.999 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 176 0 0.00 187 24 11.37 - - - UHRF1 0 genome.wustl.edu 37 19 4941544 4941544 + RNA SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 4941544 4941544 G T SNP UHRF1 ENST00000262952 human ensembl 69_37n +1 known rna NULL NULL 0.971 - - - no_errors UHRF1 HGNC ENSG00000034063 154 0 0.00 77 42 35.29 - - - UMODL1 0 genome.wustl.edu 37 21 43505408 43505408 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 21 43505408 43505408 G A SNP UMODL1 ENST00000408989 human ensembl 69_37n +1 known silent c.489 p.E163 0.001 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMODL1 HGNC ENSG00000177398 121 0 0.00 131 18 12.08 - - - UNC13C 0 genome.wustl.edu 37 15 54919234 54919234 + Nonsense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 54919234 54919234 C T SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known nonsense c.6568 p.Q2190* 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 319 0 0.00 283 57 16.76 - - - UNC80 0 genome.wustl.edu 37 2 210680045 210680045 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 210680045 210680045 C T SNP UNC80 ENST00000439458 human ensembl 69_37n +1 known missense c.1265 p.S422L 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 249 0 0.00 234 52 18.18 - - - VCPIP1 0 genome.wustl.edu 37 8 67578968 67578968 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 67578968 67578968 G C SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known missense c.226 p.R76G 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 74 0 0.00 111 26 18.71 - - - VPS13C 0 genome.wustl.edu 37 15 62170937 62170937 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 62170937 62170937 C G SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.10011 p.L3337F 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 150 0 0.00 112 16 12.50 - - - VPS13C 0 genome.wustl.edu 37 15 62204183 62204183 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 15 62204183 62204183 C T SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.8571 p.M2857I 1.000 pfam_VPSAP pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 225 0 0.00 239 99 29.20 - - - VPS33A 0 genome.wustl.edu 37 12 122723195 122723195 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 12 122723195 122723195 G C SNP VPS33A ENST00000267199 human ensembl 69_37n -1 known missense c.1241 p.S414C 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 213 0 0.00 173 26 13.07 - - - XRCC6 0 genome.wustl.edu 37 22 42032677 42032677 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 22 42032677 42032677 G C SNP XRCC6 ENST00000359308 human ensembl 69_37n +1 known missense c.492 p.K164N 1.000 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,tigrfam_DNA_helicase_ATP-dep_Ku70 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 184 0 0.00 114 24 17.39 - - - YEATS2 0 genome.wustl.edu 37 3 183508603 183508603 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 183508603 183508603 G T SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.2932 p.V978L 0.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 114 0 0.00 120 53 30.29 - - - ZC3H6 0 genome.wustl.edu 37 2 113089587 113089587 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 2 113089587 113089587 C T SNP ZC3H6 ENST00000343936 human ensembl 69_37n +1 known missense c.3092 p.S1031L 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 197 0 0.00 188 22 10.43 - - - ZFPM2 0 genome.wustl.edu 37 8 106814537 106814537 + Nonsense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 8 106814537 106814537 G T SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known nonsense c.2227 p.E743* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 114 0 0.00 107 15 12.30 - - - ZNF143 0 genome.wustl.edu 37 11 9516249 9516249 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 11 9516249 9516249 G C SNP ZNF143 ENST00000396602 human ensembl 69_37n +1 known missense c.702 p.E234D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 315 0 0.00 318 134 29.65 - - - ZNF281 0 genome.wustl.edu 37 1 200377516 200377516 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 200377516 200377516 C G SNP ZNF281 ENST00000294740 human ensembl 69_37n -1 known missense c.1318 p.E440Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 497 0 0.00 618 75 10.82 - - - ZNF334 0 genome.wustl.edu 37 20 45132914 45132914 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 20 45132914 45132914 G C SNP ZNF334 ENST00000347606 human ensembl 69_37n -1 known missense c.180 p.F60L 0.479 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 ZNF334 HGNC ENSG00000198185 344 0 0.00 592 94 13.66 - - - ZNF35 0 genome.wustl.edu 37 3 44692688 44692688 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 3 44692688 44692688 C G SNP ZNF35 ENST00000396056 human ensembl 69_37n +1 known missense c.129 p.I43M 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 234 0 0.00 123 27 18.00 - - - ZNF462 0 genome.wustl.edu 37 9 109688576 109688576 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 9 109688576 109688576 G A SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known missense c.2383 p.E795K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 173 0 0.00 95 38 28.57 - - - ZNF625 0 genome.wustl.edu 37 19 12256762 12256762 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 12256762 12256762 G A SNP ZNF625 ENST00000439556 human ensembl 69_37n -1 known missense c.469 p.H157Y 0.991 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 ZNF625 Clone_based_vega_gene ENSG00000257591 313 1 0.32 198 29 12.72 - - - ZNF681 0 genome.wustl.edu 37 19 23937695 23937695 + Silent SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 19 23937695 23937695 C T SNP ZNF681 ENST00000402377 human ensembl 69_37n -1 known silent c.156 p.L52 0.160 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 ZNF681 HGNC ENSG00000196172 513 0 0.00 387 56 12.61 - - - ZRANB2 0 genome.wustl.edu 37 1 71544146 71544146 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2f9165d-9fe7-492e-9b4c-3cb4200c6e85 96166aa5-1642-4a59-a88e-9b9f9291b453 1 71544146 71544146 C A SNP ZRANB2 ENST00000370920 human ensembl 69_37n -1 known missense c.212 p.C71F 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 194 0 0.00 120 46 27.71 - - -