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 AGBL3 0 genome.wustl.edu 37 7 134672706 134672706 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 134672706 134672706 G A SNP AGBL3 ENST00000436302 human ensembl 69_37n +1 known missense c.22 p.E8K 0.999 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 524 0 0.00 306 52 14.53 - - - AP2A1 0 genome.wustl.edu 37 19 50302177 50302177 + Silent SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 50302177 50302177 C T SNP AP2A1 ENST00000359032 human ensembl 69_37n +1 known silent c.933 p.F311 0.984 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 145 0 0.00 151 27 15.17 - - - AQP5 0 genome.wustl.edu 37 12 50355892 50355892 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 12 50355892 50355892 C G SNP AQP5 ENST00000293599 human ensembl 69_37n +1 known missense c.92 p.S31W 0.949 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_Aquaporin pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_Aquaporin - no_errors AQP5 HGNC ENSG00000161798 56 0 0.00 64 19 22.89 - - - ATP7A 0 genome.wustl.edu 37 X 77289220 77289220 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 X 77289220 77289220 G A SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.3412 p.E1138K 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 468 0 0.00 264 107 28.69 - - - BOD1L1 0 genome.wustl.edu 37 4 13579099 13579099 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 13579099 13579099 C G SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known missense c.8812 p.E2938Q 0.383 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 541 0 0.00 376 66 14.93 - - - C16orf96 0 genome.wustl.edu 37 16 4638311 4638311 + Silent SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 16 4638311 4638311 C G SNP C16orf96 ENST00000444310 human ensembl 69_37n +1 known silent c.2571 p.L857 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 295 0 0.00 269 69 20.35 - - - C19orf76 0 genome.wustl.edu 37 19 50193365 50193365 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 50193365 50193365 G A SNP C19orf76 ENST00000420022 human ensembl 69_37n +1 known missense c.77 p.R26Q 0.000 NULL NULL - no_errors C19orf76 HGNC ENSG00000224420 17 0 0.00 19 12 38.71 - - - C2orf83 0 genome.wustl.edu 37 2 228476365 228476365 + Silent SNP A A G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 2 228476365 228476365 A G SNP C2orf83 ENST00000264387 human ensembl 69_37n -1 known silent c.198 p.S66 0.382 NULL pfam_Folate_carrier - no_errors C2orf83 HGNC ENSG00000042304 207 0 0.00 156 35 18.32 - - - CA6 0 genome.wustl.edu 37 1 9022689 9022689 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 9022689 9022689 C T SNP CA6 ENST00000377443 human ensembl 69_37n +1 known missense c.545 p.S182F 0.085 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 CA6 HGNC ENSG00000131686 389 1 0.26 282 68 19.43 - - - CCDC154 0 genome.wustl.edu 37 16 1488633 1488633 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 16 1488633 1488633 C T SNP CCDC154 ENST00000389176 human ensembl 69_37n -1 known missense c.1039 p.E347K 0.564 NULL NULL - no_errors CCDC154 HGNC ENSG00000197599 48 0 0.00 84 15 15.15 - - - CCDC158 0 genome.wustl.edu 37 4 77304840 77304840 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 77304840 77304840 G C SNP CCDC158 ENST00000388914 human ensembl 69_37n -1 known missense c.778 p.L260V 0.955 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 1026 0 0.00 816 118 12.63 - - - CCNT1 0 genome.wustl.edu 37 12 49086993 49086993 + Silent SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 12 49086993 49086993 G C SNP CCNT1 ENST00000261900 human ensembl 69_37n -1 known silent c.2004 p.L668 0.999 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 315 0 0.00 307 55 15.15 - - - CD55 0 genome.wustl.edu 37 1 207498997 207498997 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 207498997 207498997 G A SNP CD55 ENST00000314754 human ensembl 69_37n +1 known missense c.509 p.R170Q 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC ENSG00000196352 570 0 0.00 426 74 14.80 - - - CDHR4 0 genome.wustl.edu 37 3 49831147 49831147 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 3 49831147 49831147 G A SNP CDHR4 ENST00000412678 human ensembl 69_37n -1 known missense c.1492 p.H498Y 0.032 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 277 0 0.00 161 63 28.00 - - - CDK19 0 genome.wustl.edu 37 6 110944522 110944522 + Missense_Mutation SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 6 110944522 110944522 C A SNP CDK19 ENST00000368911 human ensembl 69_37n -1 known missense c.904 p.V302F 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK19 HGNC ENSG00000155111 366 0 0.00 240 57 19.13 - - - CHRNB1 0 genome.wustl.edu 37 17 7359155 7359155 + Nonsense_Mutation SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 17 7359155 7359155 C A SNP CHRNB1 ENST00000570557 human ensembl 69_37n +1 novel nonsense c.923 p.S308* 0.987 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CHRNB1 HGNC ENSG00000170175 115 0 0.00 86 28 24.56 - - - CHRNB4 0 genome.wustl.edu 37 15 78921439 78921439 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 15 78921439 78921439 G A SNP CHRNB4 ENST00000261751 human ensembl 69_37n -1 known missense c.1208 p.S403F 0.003 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 215 0 0.00 253 85 25.07 - - - COL12A1 0 genome.wustl.edu 37 6 75814970 75814970 + Silent SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 6 75814970 75814970 G A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known silent c.8217 p.C2739 0.997 NULL 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 226 0 0.00 151 30 16.57 - - - COL12A1 0 genome.wustl.edu 37 6 75892984 75892984 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 6 75892984 75892984 C G SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.1673 p.R558T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 404 0 0.00 251 49 16.33 - - - CSMD1 0 genome.wustl.edu 37 8 3057296 3057296 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 8 3057296 3057296 G A SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel missense c.3575 p.S1192F 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 129 0 0.00 77 29 27.36 - - - DGKA 0 genome.wustl.edu 37 12 56335341 56335341 + Missense_Mutation SNP A A G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 12 56335341 56335341 A G SNP DGKA ENST00000331886 human ensembl 69_37n +1 known missense c.1223 p.N408S 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 463 1 0.22 322 144 30.84 - - - EIF4G3 0 genome.wustl.edu 37 1 21175934 21175934 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 21175934 21175934 C T SNP EIF4G3 ENST00000374937 human ensembl 69_37n -1 known missense c.3712 p.E1238K 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 365 0 0.00 237 71 23.05 - - - EML5 0 genome.wustl.edu 37 14 89091348 89091348 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 14 89091348 89091348 C T SNP EML5 ENST00000554922 human ensembl 69_37n -1 known missense c.4864 p.D1622N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 158 0 0.00 136 35 20.47 - - - EPOR 0 genome.wustl.edu 37 19 11488778 11488778 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 11488778 11488778 G A SNP EPOR ENST00000222139 human ensembl 69_37n -1 known missense c.1409 p.S470L 0.971 pirsf_Erythropoietin_rcpt pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 125 0 0.00 59 60 50.42 - - - EYS 0 genome.wustl.edu 37 6 65531584 65531584 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 6 65531584 65531584 G A SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.3197 p.S1066L 0.030 smart_EGF-like_Ca-bd,smart_EGF-like 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 253 0 0.00 103 49 32.24 - - - FAM186A 0 genome.wustl.edu 37 12 50747708 50747708 + Silent SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 12 50747708 50747708 C T SNP FAM186A ENST00000327337 human ensembl 69_37n -1 known silent c.2907 p.Q969 0.867 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 944 0 0.00 630 280 30.77 - - - FAM35B 0 genome.wustl.edu 37 10 46927958 46927958 + RNA SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 10 46927958 46927958 C G SNP FAM35B ENST00000497389 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors FAM35B HGNC ENSG00000165874 141 0 0.00 64 29 31.18 - - - FAM45A 0 genome.wustl.edu 37 10 120863682 120863682 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 10 120863682 120863682 C G SNP FAM45A ENST00000361432 human ensembl 69_37n +1 known missense c.28 p.Q10E 1.000 NULL pfam_Secretory_pathway_prot_Avl9 - no_errors FAM45A HGNC ENSG00000119979 12 0 0.00 22 7 24.14 - - - FANK1 0 genome.wustl.edu 37 10 127668745 127668745 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 10 127668745 127668745 C T SNP FANK1 ENST00000368693 human ensembl 69_37n +1 known missense c.29 p.S10L 0.753 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 314 0 0.00 202 48 19.20 - - - FBL 0 genome.wustl.edu 37 19 40328380 40328380 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 40328380 40328380 C T SNP FBL ENST00000221801 human ensembl 69_37n -1 known missense c.653 p.R218Q 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 273 0 0.00 219 100 31.35 - - - FREM1 0 genome.wustl.edu 37 9 14851512 14851512 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 9 14851512 14851512 C G SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.925 p.D309H 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 257 0 0.00 161 37 18.69 - - - GABRQ 0 genome.wustl.edu 37 X 151808900 151808900 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 X 151808900 151808900 G A SNP GABRQ ENST00000370306 human ensembl 69_37n +1 known missense c.211 p.D71N 0.999 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 475 0 0.00 507 115 18.49 - - - GALNTL6 0 genome.wustl.edu 37 4 173961139 173961141 + In_Frame_Del DEL AGA AGA - TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 173961139 173961141 AGA - DEL GALNTL6 ENST00000506823 human ensembl 69_37n +1 known in_frame_del c.1694_1696 p.K567in_frame_del 1.000:1.000:1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 428 0 0.00 398 49 10.89 - - - GOLGA8G 0 genome.wustl.edu 37 15 28769180 28769180 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 15 28769180 28769180 C T SNP GOLGA8G ENST00000416855 human ensembl 69_37n -1 known missense c.1316 p.G439E 1.000 NULL NULL - no_errors GOLGA8G HGNC ENSG00000183629 153 0 0.00 97 32 24.62 - - - GPATCH4 0 genome.wustl.edu 37 1 156567909 156567909 + Missense_Mutation SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 156567909 156567909 C A SNP GPATCH4 ENST00000438976 human ensembl 69_37n -1 known missense c.266 p.G89V 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 415 0 0.00 284 125 30.49 - - - GPSM2 0 genome.wustl.edu 37 1 109445764 109445764 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 109445764 109445764 G A SNP GPSM2 ENST00000264126 human ensembl 69_37n +1 known missense c.970 p.A324T 1.000 pfam_TPR-4,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 513 0 0.00 237 142 37.47 - - - GRIN3A 0 genome.wustl.edu 37 9 104499593 104499593 + Silent SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 9 104499593 104499593 G A SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known silent c.669 p.I223 0.999 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 70 0 0.00 93 14 13.08 - - - HIST1H2AD 0 genome.wustl.edu 37 6 26199108 26199108 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 6 26199108 26199108 C G SNP HIST1H2AD ENST00000341023 human ensembl 69_37n -1 known missense c.364 p.E122Q 1.000 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 HIST1H2AD HGNC ENSG00000196866 417 0 0.00 304 54 15.08 - - - HIST1H2BC 0 genome.wustl.edu 37 6 26123904 26123904 + Nonsense_Mutation SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 6 26123904 26123904 C A SNP HIST1H2BC ENST00000314332 human ensembl 69_37n -1 known nonsense c.229 p.E77* 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 139 0 0.00 110 26 19.12 - - - HIST1H4I 0 genome.wustl.edu 37 6 27107360 27107360 + Silent SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 6 27107360 27107360 C G SNP HIST1H4I ENST00000354348 human ensembl 69_37n +1 known silent c.273 p.L91 0.999 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,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 HIST1H4I HGNC ENSG00000198339 71 0 0.00 61 16 20.78 - - - HMGN5 0 genome.wustl.edu 37 X 80371738 80371738 + Nonsense_Mutation SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 X 80371738 80371738 C A SNP HMGN5 ENST00000358130 human ensembl 69_37n -1 known nonsense c.232 p.E78* 0.484 pfam_HMGN_fam,smart_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC ENSG00000198157 823 1 0.12 644 98 13.12 - - - IGKV1D-12 0 genome.wustl.edu 37 2 90199146 90199146 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 2 90199146 90199146 G A SNP IGKV1D-12 ENST00000390276 human ensembl 69_37n +1 known missense c.307 p.E103K 1.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-12 HGNC ENSG00000240834 410 0 0.00 309 72 18.90 - - - IL37 0 genome.wustl.edu 37 2 113676141 113676141 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 2 113676141 113676141 G C SNP IL37 ENST00000263326 human ensembl 69_37n +1 known missense c.412 p.E138Q 0.610 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA - no_errors IL37 HGNC ENSG00000125571 144 0 0.00 95 22 18.80 - - - ITGA2 0 genome.wustl.edu 37 5 52366060 52366060 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 5 52366060 52366060 G C SNP ITGA2 ENST00000296585 human ensembl 69_37n +1 known missense c.2205 p.Q735H 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGA2 HGNC ENSG00000164171 164 0 0.00 92 54 36.99 - - - KIAA1109 0 genome.wustl.edu 37 4 123230553 123230553 + Missense_Mutation SNP G G T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 123230553 123230553 G T SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.10186 p.D3396Y 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 629 0 0.00 391 87 18.20 - - - KIAA2022 0 genome.wustl.edu 37 X 73962903 73962903 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 X 73962903 73962903 C G SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.1489 p.D497H 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 534 0 0.00 449 79 14.96 - - - KRTAP4-8 0 genome.wustl.edu 37 17 39254032 39254032 + Missense_Mutation SNP G G T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 17 39254032 39254032 G T SNP KRTAP4-8 ENST00000333822 human ensembl 69_37n -1 known missense c.305 p.P102H 0.655 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 23 0 0.00 18 12 40.00 - - - LIMK1 0 genome.wustl.edu 37 7 73511431 73511431 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 73511431 73511431 C T SNP LIMK1 ENST00000336180 human ensembl 69_37n +1 known missense c.313 p.H105Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 92 0 0.00 95 21 18.10 - - - LPPR2 0 genome.wustl.edu 37 19 11473233 11473233 + Silent SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 11473233 11473233 C G SNP LPPR2 ENST00000591608 human ensembl 69_37n +1 known silent c.633 p.V211 0.940 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR2 Clone_based_vega_gene ENSG00000105520 65 0 0.00 18 17 48.57 - - - LRRC43 0 genome.wustl.edu 37 12 122685099 122685099 + Silent SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 12 122685099 122685099 G A SNP LRRC43 ENST00000339777 human ensembl 69_37n +1 known silent c.1512 p.V504 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 188 0 0.00 180 49 21.40 - - - LTBP4 0 genome.wustl.edu 37 19 41117097 41117097 + Missense_Mutation SNP G G T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 41117097 41117097 G T SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known missense c.2051 p.R684L 0.963 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 85 0 0.00 118 26 18.06 - - - MANBA 0 genome.wustl.edu 37 4 103590198 103590198 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 103590198 103590198 C G SNP MANBA ENST00000226578 human ensembl 69_37n -1 known missense c.1239 p.Q413H 1.000 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 322 0 0.00 252 54 17.59 - - - MAP4 0 genome.wustl.edu 37 3 47951254 47951254 + Nonsense_Mutation SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 3 47951254 47951254 C A SNP MAP4 ENST00000264724 human ensembl 69_37n -1 known nonsense c.478 p.E160* 0.074 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 219 0 0.00 58 76 56.72 - - - MAST1 0 genome.wustl.edu 37 19 12976890 12976890 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 12976890 12976890 C T SNP MAST1 ENST00000251472 human ensembl 69_37n +1 known missense c.2003 p.S668L 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 183 0 0.00 100 37 26.81 - - - MNDA 0 genome.wustl.edu 37 1 158812198 158812198 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 158812198 158812198 G C SNP MNDA ENST00000368141 human ensembl 69_37n +1 known missense c.255 p.E85D 0.001 pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 206 0 0.00 136 27 16.56 - - - MUC17 0 genome.wustl.edu 37 7 100681335 100681335 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 100681335 100681335 C T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.6638 p.S2213L 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 236 0 0.00 170 38 18.27 - - - MUC17 0 genome.wustl.edu 37 7 100683508 100683508 + Silent SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 100683508 100683508 C T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.8811 p.T2937 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 114 0 0.00 88 21 19.27 - - - MYLK 0 genome.wustl.edu 37 3 123419644 123419644 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 3 123419644 123419644 C G SNP MYLK ENST00000360304 human ensembl 69_37n -1 known missense c.2671 p.E891Q 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 101 0 0.00 104 30 22.22 - - - NFATC4 0 genome.wustl.edu 37 14 24836334 24836334 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 14 24836334 24836334 C G SNP NFATC4 ENST00000413692 human ensembl 69_37n +1 known missense c.74 p.S25C 0.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 391 0 0.00 470 87 15.59 - - - NLRP2 0 genome.wustl.edu 37 19 55493529 55493529 + Splice_Site SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 55493529 55493529 G C SNP NLRP2 ENST00000448584 human ensembl 69_37n +1 known splice_site c.464-1 e5-1 0.000 - - - no_errors NLRP2 HGNC ENSG00000022556 131 0 0.00 101 17 14.41 - - - NSUN3 0 genome.wustl.edu 37 3 93783283 93783283 + Silent SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 3 93783283 93783283 G C SNP NSUN3 ENST00000314622 human ensembl 69_37n +1 known silent c.15 p.L5 1.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC ENSG00000178694 370 0 0.00 252 37 12.76 - - - NUP205 0 genome.wustl.edu 37 7 135272700 135272700 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 135272700 135272700 C G SNP NUP205 ENST00000285968 human ensembl 69_37n +1 known missense c.1433 p.S478C 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 334 0 0.00 271 52 16.05 - - - OR2AG1 0 genome.wustl.edu 37 11 6807135 6807135 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 11 6807135 6807135 C G SNP OR2AG1 ENST00000307401 human ensembl 69_37n +1 known missense c.867 p.I289M 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_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 OR2AG1 HGNC ENSG00000170803 509 0 0.00 249 88 26.11 - - - OR2T34 0 genome.wustl.edu 37 1 248737415 248737415 + Missense_Mutation SNP G G T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 248737415 248737415 G T SNP OR2T34 ENST00000328782 human ensembl 69_37n -1 known missense c.644 p.P215H 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 419 0 0.00 473 92 16.28 - - - OTUD7B 0 genome.wustl.edu 37 1 149937782 149937782 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 149937782 149937782 C T SNP OTUD7B ENST00000369135 human ensembl 69_37n -1 known missense c.524 p.S175N 0.986 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 125 0 0.00 137 23 14.37 - - - P2RY4 0 genome.wustl.edu 37 X 69478551 69478551 + Silent SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 X 69478551 69478551 G C SNP P2RY4 ENST00000374519 human ensembl 69_37n -1 known silent c.924 p.L308 1.000 prints_P2Y4_purnocptor,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2U_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors P2RY4 HGNC ENSG00000186912 107 0 0.00 100 47 31.97 - - - PAPPA2 0 genome.wustl.edu 37 1 176564678 176564678 + Missense_Mutation SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 176564678 176564678 C A SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.1938 p.D646E 1.000 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 148 0 0.00 162 37 18.41 - - - PCDH18 0 genome.wustl.edu 37 4 138451370 138451370 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 138451370 138451370 C T SNP PCDH18 ENST00000344876 human ensembl 69_37n -1 known missense c.1873 p.E625K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 222 0 0.00 179 36 16.74 - - - PCDHGA3 0 genome.wustl.edu 37 5 140724883 140724883 + Missense_Mutation SNP G G T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 5 140724883 140724883 G T SNP PCDHGA3 ENST00000253812 human ensembl 69_37n +1 known missense c.1283 p.G428V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 152 0 0.00 131 28 17.50 - - - PGBD5 0 genome.wustl.edu 37 1 230503782 230503782 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 230503782 230503782 G C SNP PGBD5 ENST00000321327 human ensembl 69_37n -1 known missense c.233 p.S78C 0.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 498 0 0.00 533 82 13.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178941973 178941973 + Silent SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 3 178941973 178941973 C T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known silent c.2292 p.L764 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 439 0 0.00 309 55 15.11 - - - PIP 0 genome.wustl.edu 37 7 142836690 142836690 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 142836690 142836690 C G SNP PIP ENST00000291009 human ensembl 69_37n +1 known missense c.396 p.I132M 0.001 pirsf_SV_autoAg pfam_SV_autoAg,pirsf_SV_autoAg - no_errors PIP HGNC ENSG00000159763 277 0 0.00 227 59 20.63 - - - PLA1A 0 genome.wustl.edu 37 3 119327722 119327722 + Silent SNP A A T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 3 119327722 119327722 A T SNP PLA1A ENST00000273371 human ensembl 69_37n +1 known silent c.381 p.G127 0.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 550 0 0.00 329 80 19.56 - - - PLA2G6 0 genome.wustl.edu 37 22 38541572 38541572 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 22 38541572 38541572 G C SNP PLA2G6 ENST00000332509 human ensembl 69_37n -1 known missense c.298 p.Q100E 0.273 NULL pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 108 0 0.00 267 40 13.03 - - - PLEKHA8 0 genome.wustl.edu 37 7 30088947 30088947 + Silent SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 30088947 30088947 C G SNP PLEKHA8 ENST00000449726 human ensembl 69_37n +1 known silent c.546 p.L182 0.003 NULL pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 406 0 0.00 387 103 21.02 - - - POU6F2 0 genome.wustl.edu 37 7 39125579 39125579 + Silent SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 39125579 39125579 G A SNP POU6F2 ENST00000403058 human ensembl 69_37n +1 known silent c.138 p.L46 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 423 0 0.00 316 153 32.62 - - - PPARGC1B 0 genome.wustl.edu 37 5 149206414 149206414 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 5 149206414 149206414 C T SNP PPARGC1B ENST00000309241 human ensembl 69_37n +1 known missense c.431 p.S144L 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 41 0 0.00 66 9 12.00 - - - PPM1E 0 genome.wustl.edu 37 17 57043169 57043169 + Nonsense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 17 57043169 57043169 C G SNP PPM1E ENST00000308249 human ensembl 69_37n +1 known nonsense c.698 p.S233* 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 283 0 0.00 171 62 26.61 - - - PTPRU 0 genome.wustl.edu 37 1 29587268 29587268 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 29587268 29587268 G A SNP PTPRU ENST00000345512 human ensembl 69_37n +1 known missense c.997 p.E333K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRU HGNC ENSG00000060656 60 0 0.00 77 19 19.79 - - - RBM8A 0 genome.wustl.edu 37 1 145508273 145508273 + Missense_Mutation SNP G G T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 145508273 145508273 G T SNP RBM8A ENST00000330165 human ensembl 69_37n +1 known missense c.194 p.G65V 1.000 prints_RNA-bd_8 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8 - no_errors RBM8A HGNC ENSG00000131795 244 0 0.00 178 90 33.58 - - - RICTOR 0 genome.wustl.edu 37 5 38944601 38944601 + Silent SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 5 38944601 38944601 G C SNP RICTOR ENST00000296782 human ensembl 69_37n -1 known silent c.4932 p.V1644 0.386 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 427 0 0.00 272 40 12.78 - - - RIF1 0 genome.wustl.edu 37 2 152322549 152322549 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 2 152322549 152322549 C T SNP RIF1 ENST00000243326 human ensembl 69_37n +1 known missense c.6515 p.S2172F 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 132 0 0.00 74 20 21.28 - - - RIPK1 0 genome.wustl.edu 37 6 3081330 3081330 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 6 3081330 3081330 G A SNP RIPK1 ENST00000259808 human ensembl 69_37n +1 known missense c.439 p.D147N 0.998 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_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 295 0 0.00 193 31 13.84 - - - SARDH 0 genome.wustl.edu 37 9 136595296 136595296 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 9 136595296 136595296 C T SNP SARDH ENST00000371872 human ensembl 69_37n -1 known missense c.704 p.C235Y 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 133 0 0.00 160 32 16.67 - - - SF3B3 0 genome.wustl.edu 37 16 70569223 70569223 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 16 70569223 70569223 C T SNP SF3B3 ENST00000302516 human ensembl 69_37n +1 known missense c.725 p.S242L 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 297 0 0.00 180 28 13.46 - - - SHROOM3 0 genome.wustl.edu 37 4 77476816 77476816 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 77476816 77476816 G A SNP SHROOM3 ENST00000296043 human ensembl 69_37n +1 known missense c.223 p.E75K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 226 0 0.00 156 86 35.39 - - - SHROOM3 0 genome.wustl.edu 37 4 77676338 77676338 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 77676338 77676338 C T SNP SHROOM3 ENST00000296043 human ensembl 69_37n +1 known missense c.4702 p.R1568C 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 78 0 0.00 92 24 20.69 - - - SLC17A6 0 genome.wustl.edu 37 11 22391723 22391723 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 11 22391723 22391723 G A SNP SLC17A6 ENST00000263160 human ensembl 69_37n +1 known missense c.1030 p.E344K 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 178 0 0.00 73 18 19.78 - - - SMAD2 0 genome.wustl.edu 37 18 45372102 45372102 + Missense_Mutation SNP A A C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 18 45372102 45372102 A C SNP SMAD2 ENST00000262160 human ensembl 69_37n -1 known missense c.1067 p.F356C 1.000 pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 351 0 0.00 100 110 52.38 - - - SMAD3 0 genome.wustl.edu 37 15 67457304 67457304 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 15 67457304 67457304 G A SNP SMAD3 ENST00000327367 human ensembl 69_37n +1 known missense c.278 p.R93Q 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 61 0 0.00 30 27 47.37 - - - SNAI3 0 genome.wustl.edu 37 16 88747605 88747605 + Silent SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 16 88747605 88747605 G A SNP SNAI3 ENST00000332281 human ensembl 69_37n -1 known silent c.594 p.L198 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 105 0 0.00 76 43 36.13 - - - SNX7 0 genome.wustl.edu 37 1 99150448 99150448 + Nonsense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 99150448 99150448 C G SNP SNX7 ENST00000306121 human ensembl 69_37n +1 known nonsense c.188 p.S63* 0.996 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX7 HGNC ENSG00000162627 348 0 0.00 181 41 18.47 - - - SPARCL1 0 genome.wustl.edu 37 4 88415072 88415072 + Nonsense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 88415072 88415072 G A SNP SPARCL1 ENST00000282470 human ensembl 69_37n -1 known nonsense c.880 p.Q294* 0.514 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 680 0 0.00 530 123 18.81 - - - SPINT3 0 genome.wustl.edu 37 20 44141314 44141314 + Nonsense_Mutation SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 20 44141314 44141314 C A SNP SPINT3 ENST00000217428 human ensembl 69_37n -1 known nonsense c.247 p.E83* 0.001 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors SPINT3 HGNC ENSG00000101446 245 1 0.41 189 43 18.53 - - - SPRR2F 0 genome.wustl.edu 37 1 153085068 153085068 + Nonsense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 153085068 153085068 G A SNP SPRR2F ENST00000468739 human ensembl 69_37n -1 known nonsense c.142 p.Q48* 0.007 NULL NULL - no_errors SPRR2F HGNC ENSG00000244094 541 0 0.00 498 265 34.69 - - - SZRD1 0 genome.wustl.edu 37 1 16719813 16719813 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 16719813 16719813 G C SNP SZRD1 ENST00000375590 human ensembl 69_37n +1 known missense c.132 p.K44N 1.000 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 95 0 0.00 67 15 18.29 - - - TACR1 0 genome.wustl.edu 37 2 75280858 75280858 + Silent SNP C C A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 2 75280858 75280858 C A SNP TACR1 ENST00000305249 human ensembl 69_37n -1 known silent c.609 p.L203 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 251 0 0.00 156 40 20.41 - - - TAF1B 0 genome.wustl.edu 37 2 10050972 10050972 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 2 10050972 10050972 G A SNP TAF1B ENST00000263663 human ensembl 69_37n +1 known missense c.1063 p.D355N 1.000 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 453 0 0.00 265 55 17.19 - - - TARS 0 genome.wustl.edu 37 5 33459816 33459816 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 5 33459816 33459816 G A SNP TARS ENST00000265112 human ensembl 69_37n +1 known missense c.1100 p.R367K 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS HGNC ENSG00000113407 185 0 0.00 123 42 25.45 - - - TEAD1 0 genome.wustl.edu 37 11 12785961 12785961 + Nonsense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 11 12785961 12785961 C G SNP TEAD1 ENST00000361905 human ensembl 69_37n +1 known nonsense c.137 p.S46* 1.000 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 248 0 0.00 118 22 15.71 - - - THBS3 0 genome.wustl.edu 37 1 155165801 155165801 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 1 155165801 155165801 G C SNP THBS3 ENST00000368378 human ensembl 69_37n -1 known missense c.2789 p.S930C 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 299 0 0.00 277 50 15.29 - - - THSD7B 0 genome.wustl.edu 37 2 137814238 137814238 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 2 137814238 137814238 G C SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known missense c.388 p.E130Q 0.547 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 172 0 0.00 115 39 25.32 - - - TMEM189-UBE2V1 0 genome.wustl.edu 37 20 48699337 48699337 + Nonsense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 20 48699337 48699337 G A SNP TMEM189-UBE2V1 ENST00000341698 human ensembl 69_37n -1 known nonsense c.1081 p.Q361* 1.000 superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors TMEM189-UBE2V1 HGNC ENSG00000124208 488 0 0.00 438 70 13.78 - - - TP53 0 genome.wustl.edu 37 17 7578536 7578536 + Missense_Mutation SNP T T C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 17 7578536 7578536 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.394 p.K132E 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 130 0 0.00 54 54 50.00 - - - TPPP 0 genome.wustl.edu 37 5 666230 666230 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 5 666230 666230 G A SNP TPPP ENST00000360578 human ensembl 69_37n -1 known missense c.320 p.S107F 1.000 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 71 0 0.00 109 19 14.84 - - - TSC22D2 0 genome.wustl.edu 37 3 150127372 150127372 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 3 150127372 150127372 G C SNP TSC22D2 ENST00000361875 human ensembl 69_37n +1 known missense c.235 p.E79Q 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 30 0 0.00 28 13 31.71 - - - TSGA13 0 genome.wustl.edu 37 7 130364154 130364154 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 130364154 130364154 G C SNP TSGA13 ENST00000356588 human ensembl 69_37n -1 known missense c.226 p.Q76E 0.015 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 664 0 0.00 609 115 15.88 - - - TTC18 0 genome.wustl.edu 37 10 75034278 75034278 + Nonsense_Mutation SNP A A C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 10 75034278 75034278 A C SNP TTC18 ENST00000310715 human ensembl 69_37n -1 known nonsense c.2958 p.Y986* 0.999 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 372 0 0.00 248 57 18.69 - - - UBTD2 0 genome.wustl.edu 37 5 171639034 171639034 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 5 171639034 171639034 G A SNP UBTD2 ENST00000393792 human ensembl 69_37n -1 known missense c.505 p.R169C 1.000 pfam_Ubiquitin,pfam_SUMO,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,pfscan_Ubiquitin_supergroup - no_errors UBTD2 HGNC ENSG00000168246 303 0 0.00 243 57 19.00 - - - UGT2B10 0 genome.wustl.edu 37 4 69681927 69681927 + Missense_Mutation SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 4 69681927 69681927 G C SNP UGT2B10 ENST00000265403 human ensembl 69_37n +1 known missense c.190 p.D64H 0.011 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 155 0 0.00 110 23 17.29 - - - UNC13C 0 genome.wustl.edu 37 15 54793090 54793090 + Nonsense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 15 54793090 54793090 C T SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known nonsense c.5215 p.Q1739* 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 367 0 0.00 201 77 27.70 - - - VSIG1 0 genome.wustl.edu 37 X 107301404 107301404 + Silent SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 X 107301404 107301404 C T SNP VSIG1 ENST00000415430 human ensembl 69_37n +1 known silent c.186 p.F62 0.002 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 543 0 0.00 441 92 17.26 - - - WDR96 0 genome.wustl.edu 37 10 105965792 105965792 + Splice_Site SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 10 105965792 105965792 C G SNP WDR96 ENST00000428666 human ensembl 69_37n -1 known splice_site c.896-1 e7-1 0.017 - - - no_errors WDR96 HGNC ENSG00000197748 224 0 0.00 113 54 32.34 - - - ZBTB46 0 genome.wustl.edu 37 20 62421337 62421337 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 20 62421337 62421337 C G SNP ZBTB46 ENST00000245663 human ensembl 69_37n -1 known missense c.774 p.Q258H 0.969 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 109 0 0.00 127 28 17.95 - - - ZNF462 0 genome.wustl.edu 37 9 109689136 109689136 + Silent SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 9 109689136 109689136 G A SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known silent c.2943 p.L981 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 215 0 0.00 181 46 20.26 - - - ZNF469 0 genome.wustl.edu 37 16 88504833 88504833 + Nonsense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 16 88504833 88504833 C G SNP ZNF469 ENST00000437464 human ensembl 69_37n +1 known nonsense c.10871 p.S3624* 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 15 0 0.00 22 7 24.14 - - - ZNF48 0 genome.wustl.edu 37 16 30409375 30409375 + Silent SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 16 30409375 30409375 G A SNP ZNF48 ENST00000320159 human ensembl 69_37n +1 known silent c.804 p.P268 0.289 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 84 0 0.00 76 16 17.39 - - - ZNF480 0 genome.wustl.edu 37 19 52825581 52825581 + Nonsense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 52825581 52825581 C T SNP ZNF480 ENST00000468240 human ensembl 69_37n +1 known nonsense c.1078 p.R360* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 117 0 0.00 69 8 10.39 - - - ZNF609 0 genome.wustl.edu 37 15 64792007 64792007 + Missense_Mutation SNP A A G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 15 64792007 64792007 A G SNP ZNF609 ENST00000326648 human ensembl 69_37n +1 known missense c.389 p.N130S 0.993 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 186 1 0.53 78 69 46.94 - - - ZNF786 0 genome.wustl.edu 37 7 148767652 148767652 + Missense_Mutation SNP C C T TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 7 148767652 148767652 C T SNP ZNF786 ENST00000491431 human ensembl 69_37n -1 known missense c.2212 p.G738R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 317 0 0.00 203 118 36.65 - - - ZSCAN5A 0 genome.wustl.edu 37 19 56735124 56735124 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b266b370-425c-4146-8b72-59248436618e 61e9e215-f15b-4968-9afc-4931ad991c80 19 56735124 56735124 C G SNP ZSCAN5A ENST00000391713 human ensembl 69_37n -1 known missense c.464 p.R155T 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 113 0 0.00 160 20 11.11 - - -