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 ACSL6 0 genome.wustl.edu 37 5 131295289 131295289 + Missense_Mutation SNP T T A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 5 131295289 131295289 T A SNP ACSL6 ENST00000296869 human ensembl 69_37n -1 known missense c.1971 p.K657N 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 63 0 0.00 42 19 31.15 - - - ADAMTS14 0 genome.wustl.edu 37 10 72520351 72520351 + Silent SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 10 72520351 72520351 G A SNP ADAMTS14 ENST00000373208 human ensembl 69_37n +1 known silent c.3423 p.T1141 0.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 27 0 0.00 23 15 39.47 - - - ADAMTS19 0 genome.wustl.edu 37 5 128990004 128990004 + Missense_Mutation SNP C C A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 5 128990004 128990004 C A SNP ADAMTS19 ENST00000274487 human ensembl 69_37n +1 known missense c.2164 p.P722T 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 86 0 0.00 38 18 32.14 - - - ASAP1 0 genome.wustl.edu 37 8 131149217 131149217 + Missense_Mutation SNP T T C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 8 131149217 131149217 T C SNP ASAP1 ENST00000357668 human ensembl 69_37n -1 known missense c.1148 p.K383R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,prints_ArfGAP,prints_p67phox,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP - no_errors ASAP1 HGNC ENSG00000153317 95 0 0.00 59 32 35.16 - - - ASXL2 0 genome.wustl.edu 37 2 25973043 25973043 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 2 25973043 25973043 G A SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.1382 p.S461L 0.527 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 115 0 0.00 75 56 42.75 - - - ATP2B4 0 genome.wustl.edu 37 1 203689684 203689684 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 203689684 203689684 C G SNP ATP2B4 ENST00000357681 human ensembl 69_37n +1 known missense c.2414 p.A805G 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 91 0 0.00 99 49 33.11 - - - BMPR2 0 genome.wustl.edu 37 2 203395559 203395559 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 2 203395559 203395559 G A SNP BMPR2 ENST00000374580 human ensembl 69_37n +1 known missense c.1010 p.R337K 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 83 0 0.00 68 23 25.27 - - - BOD1L2 0 genome.wustl.edu 37 18 54815025 54815025 + Missense_Mutation SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 18 54815025 54815025 G T SNP BOD1L2 ENST00000585477 human ensembl 69_37n +1 known missense c.482 p.G161V 0.000 NULL NULL - no_errors BOD1L2 HGNC ENSG00000228075 45 0 0.00 36 5 12.20 - - - BRCA1 0 genome.wustl.edu 37 17 41244479 41244479 + Silent SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 17 41244479 41244479 C T SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known silent c.3069 p.V1023 0.009 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 93 0 0.00 29 31 51.67 - - - C2CD3 0 genome.wustl.edu 37 11 73745615 73745615 + RNA SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 11 73745615 73745615 G T SNP C2CD3 ENST00000540452 human ensembl 69_37n -1 putative rna NULL NULL 1.000 - - - no_errors C2CD3 HGNC ENSG00000168014 44 0 0.00 29 4 12.12 - - - CD97 0 genome.wustl.edu 37 19 14507268 14507268 + Missense_Mutation SNP A A G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 19 14507268 14507268 A G SNP CD97 ENST00000242786 human ensembl 69_37n +1 known missense c.461 p.D154G 0.003 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 154 0 0.00 108 46 29.68 - - - CDH1 0 genome.wustl.edu 37 16 68847304 68847304 + Nonsense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 16 68847304 68847304 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.1226 p.W409* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 74 0 0.00 21 35 62.50 - - - CDKN2A 0 genome.wustl.edu 37 9 21971122 21971123 + Frame_Shift_Del DEL GT GT - TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 9 21971122 21971123 GT - DEL CDKN2A ENST00000361570 human ensembl 69_37n -1 known frame_shift_del c.402_401 p.H134fs 1.000:0.999 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 22 0 0.00 1 4 80.00 - - - CHSY3 0 genome.wustl.edu 37 5 129520290 129520290 + Silent SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 5 129520290 129520290 G A SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known silent c.1455 p.Q485 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 52 0 0.00 20 15 42.86 - - - CMTM5 0 genome.wustl.edu 37 14 23847889 23847889 + Silent SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 14 23847889 23847889 C T SNP CMTM5 ENST00000339180 human ensembl 69_37n +1 known silent c.291 p.H97 0.000 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 65 0 0.00 41 27 39.71 - - - COL14A1 0 genome.wustl.edu 37 8 121290773 121290773 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 8 121290773 121290773 C T SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known missense c.3437 p.S1146L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,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 COL14A1 HGNC ENSG00000187955 50 0 0.00 22 8 26.67 - - - CTNNA3 0 genome.wustl.edu 37 10 67829089 67829089 + Missense_Mutation SNP C C A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 10 67829089 67829089 C A SNP CTNNA3 ENST00000373744 human ensembl 69_37n -1 known missense c.2136 p.M712I 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 68 0 0.00 66 8 10.81 - - - DGKK 0 genome.wustl.edu 37 X 50135384 50135384 + RNA SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d X 50135384 50135384 C T SNP DGKK ENST00000376025 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 86 0 0.00 35 7 16.67 - - - DOCK7 0 genome.wustl.edu 37 1 63114126 63114126 + Missense_Mutation SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 63114126 63114126 G T SNP DOCK7 ENST00000251157 human ensembl 69_37n -1 known missense c.479 p.S160Y 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 85 0 0.00 48 34 41.46 - - - DUSP13 0 genome.wustl.edu 37 10 76868889 76868889 + Silent SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 10 76868889 76868889 C T SNP DUSP13 ENST00000372700 human ensembl 69_37n -1 known silent c.27 p.L9 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 56 0 0.00 28 17 37.78 - - - DYNC2H1 0 genome.wustl.edu 37 11 103025249 103025249 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 11 103025249 103025249 C G SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known missense c.3372 p.I1124M 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 48 0 0.00 18 10 35.71 - - - ENPEP 0 genome.wustl.edu 37 4 111470954 111470954 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 4 111470954 111470954 G A SNP ENPEP ENST00000265162 human ensembl 69_37n +1 known missense c.2413 p.E805K 0.060 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 74 0 0.00 54 30 35.71 - - - ERBB4 0 genome.wustl.edu 37 2 212578349 212578349 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 2 212578349 212578349 G A SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known missense c.908 p.S303F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 41 0 0.00 33 7 17.50 - - - FCGR2C 0 genome.wustl.edu 37 1 161565622 161565622 + RNA SNP A A G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 161565622 161565622 A G SNP FCGR2C ENST00000473530 human ensembl 69_37n +1 known rna NULL NULL 0.036 - - - no_errors FCGR2C HGNC ENSG00000244682 9 0 0.00 9 6 40.00 - - - FOXP1 0 genome.wustl.edu 37 3 71101699 71101699 + Nonsense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 3 71101699 71101699 G A SNP FOXP1 ENST00000318789 human ensembl 69_37n -1 known nonsense c.499 p.Q167* 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 130 0 0.00 80 41 33.88 - - - GABRA6 0 genome.wustl.edu 37 5 161116116 161116116 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 5 161116116 161116116 G A SNP GABRA6 ENST00000274545 human ensembl 69_37n +1 known missense c.387 p.M129I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 55 0 0.00 54 8 12.90 - - - GAS7 0 genome.wustl.edu 37 17 9843517 9843517 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 17 9843517 9843517 C G SNP GAS7 ENST00000432992 human ensembl 69_37n -1 known missense c.732 p.R244S 1.000 pfam_FCH,smart_FCH,pfscan_FCH pfam_FCH,pfam_WW_Rsp5_WWP,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_FCH,pfscan_FCH,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP - no_errors GAS7 HGNC ENSG00000007237 93 0 0.00 35 7 16.67 - - - GMIP 0 genome.wustl.edu 37 19 19740898 19740898 + Silent SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 19 19740898 19740898 C T SNP GMIP ENST00000203556 human ensembl 69_37n -1 known silent c.2787 p.P929 0.003 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 59 0 0.00 37 23 38.33 - - - GON4L 0 genome.wustl.edu 37 1 155785776 155785777 + RNA INS - - A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 155785776 155785777 - A INS GON4L ENST00000471341 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.000 - - - no_errors GON4L HGNC ENSG00000116580 12 0 0.00 15 2 11.76 - - - GRK5 0 genome.wustl.edu 37 10 121201555 121201555 + Nonsense_Mutation SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 10 121201555 121201555 G T SNP GRK5 ENST00000392870 human ensembl 69_37n +1 known nonsense c.1012 p.E338* 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_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK5 HGNC ENSG00000198873 155 0 0.00 35 58 62.37 - - - GTPBP8 0 genome.wustl.edu 37 3 112714087 112714087 + Missense_Mutation SNP G G C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 3 112714087 112714087 G C SNP GTPBP8 ENST00000383678 human ensembl 69_37n +1 known missense c.541 p.E181Q 1.000 pfam_GTP_binding_domain,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC pfam_GTP_binding_domain,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC - no_errors GTPBP8 HGNC ENSG00000163607 49 0 0.00 21 26 55.32 - - - HEATR7B2 0 genome.wustl.edu 37 5 40998210 40998210 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 5 40998210 40998210 C T SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.4702 p.E1568K 0.940 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 52 0 0.00 43 19 30.65 - - - HERC2P3 0 genome.wustl.edu 37 15 20588458 20588458 + RNA SNP G G C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 15 20588458 20588458 G C SNP HERC2P3 ENST00000428453 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors HERC2P3 HGNC ENSG00000180229 17 0 0.00 16 5 23.81 - - - HOXB5 0 genome.wustl.edu 37 17 46670817 46670817 + Silent SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 17 46670817 46670817 G A SNP HOXB5 ENST00000239151 human ensembl 69_37n -1 known silent c.228 p.F76 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 43 0 0.00 45 14 23.73 - - - HRNR 0 genome.wustl.edu 37 1 152191390 152191390 + Silent SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 152191390 152191390 G A SNP HRNR ENST00000368801 human ensembl 69_37n -1 known silent c.2715 p.S905 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 118 0 0.00 68 31 31.31 - - - IGHV3-30 0 genome.wustl.edu 37 14 106791024 106791024 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 14 106791024 106791024 G A SNP IGHV3-30 ENST00000390613 human ensembl 69_37n -1 known missense c.332 p.A111V 0.974 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-30 HGNC ENSG00000211953 311 0 0.00 235 36 13.28 - - - IL25 0 genome.wustl.edu 37 14 23842413 23842413 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 14 23842413 23842413 G A SNP IL25 ENST00000329715 human ensembl 69_37n +1 known missense c.86 p.G29E 0.978 pfam_Interleukin-17 pfam_Interleukin-17 - no_errors IL25 HGNC ENSG00000166090 96 0 0.00 67 26 27.96 - - - JPH2 0 genome.wustl.edu 37 20 42788490 42788490 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 20 42788490 42788490 G A SNP JPH2 ENST00000372980 human ensembl 69_37n -1 known missense c.937 p.R313C 1.000 smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 77 0 0.00 50 23 31.51 - - - KCTD3 0 genome.wustl.edu 37 1 215792314 215792314 + Missense_Mutation SNP G G C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 215792314 215792314 G C SNP KCTD3 ENST00000259154 human ensembl 69_37n +1 known missense c.1649 p.R550T 0.993 smart_WD40_repeat pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 90 0 0.00 121 17 12.32 - - - KEL 0 genome.wustl.edu 37 7 142640100 142640100 + Silent SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 7 142640100 142640100 G A SNP KEL ENST00000355265 human ensembl 69_37n -1 known silent c.1803 p.N601 0.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 89 0 0.00 37 29 43.94 - - - KIF15 0 genome.wustl.edu 37 3 44826336 44826336 + Splice_Site SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 3 44826336 44826336 G T SNP KIF15 ENST00000326047 human ensembl 69_37n +1 known splice_site c.362-1 e6-1 1.000 - - - no_errors KIF15 HGNC ENSG00000163808 56 0 0.00 42 26 38.24 - - - LAMB1 0 genome.wustl.edu 37 7 107569873 107569873 + Nonsense_Mutation SNP C C A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 7 107569873 107569873 C A SNP LAMB1 ENST00000222399 human ensembl 69_37n -1 known nonsense c.4729 p.E1577* 1.000 superfamily_Prefoldin 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 137 0 0.00 61 74 54.81 - - - LINC00283 0 genome.wustl.edu 37 13 103396941 103396941 + RNA SNP G G C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 13 103396941 103396941 G C SNP LINC00283 ENST00000430111 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LINC00283 HGNC ENSG00000231633 75 0 0.00 38 23 37.70 - - - LPA 0 genome.wustl.edu 37 6 161071404 161071404 + Nonsense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 6 161071404 161071404 G A SNP LPA ENST00000316300 human ensembl 69_37n -1 known nonsense c.175 p.Q59* 0.063 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 236 0 0.00 146 81 35.68 - - - LPPR4 0 genome.wustl.edu 37 1 99772371 99772371 + Silent SNP A A T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 99772371 99772371 A T SNP LPPR4 ENST00000370185 human ensembl 69_37n +1 known silent c.2097 p.G699 0.101 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors RP4-788L13.1 Clone_based_vega_gene ENSG00000117600 51 0 0.00 32 16 33.33 - - - LRP2 0 genome.wustl.edu 37 2 170027154 170027154 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 2 170027154 170027154 C G SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.11287 p.E3763Q 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt 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 57 0 0.00 42 20 32.26 - - - LY6H 0 genome.wustl.edu 37 8 144239709 144239709 + Silent SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 8 144239709 144239709 G A SNP LY6H ENST00000342752 human ensembl 69_37n -1 known silent c.444 p.L148 0.978 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6H HGNC ENSG00000176956 46 0 0.00 26 21 44.68 - - - MAN2C1 0 genome.wustl.edu 37 15 75653437 75653437 + Silent SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 15 75653437 75653437 C T SNP MAN2C1 ENST00000267978 human ensembl 69_37n -1 known silent c.1410 p.Q470 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 76 0 0.00 49 32 39.51 - - - MAP2 0 genome.wustl.edu 37 2 210570428 210570428 + Missense_Mutation SNP C C A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 2 210570428 210570428 C A SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.4709 p.S1570Y 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 70 0 0.00 34 24 41.38 - - - MARS 0 genome.wustl.edu 37 12 57882184 57882184 + RNA SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 12 57882184 57882184 C T SNP MARS ENST00000548146 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MARS HGNC ENSG00000166986 47 0 0.00 52 10 16.13 - - - MC1R 0 genome.wustl.edu 37 16 89980978 89980981 + RNA DEL GTGG GTGG - TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 GTGG GTGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 16 89980978 89980981 GTGG - DEL MC1R ENST00000539976 human ensembl 69_37n +1 known rna NULL NULL 0.786:0.744:0.728:0.694 - - - no_errors MC1R HGNC ENSG00000258839 40 0 0.00 10 2 16.67 - - - MC1R 0 genome.wustl.edu 37 16 89981125 89981126 + RNA INS - - TG TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 16 89981125 89981126 - TG INS MC1R ENST00000539976 human ensembl 69_37n +1 known rna NULL NULL 0.616:0.614 - - - no_errors MC1R HGNC ENSG00000258839 93 0 0.00 35 5 12.50 - - - MCFD2 0 genome.wustl.edu 37 2 47135039 47135039 + Silent SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 2 47135039 47135039 C T SNP MCFD2 ENST00000319466 human ensembl 69_37n -1 known silent c.219 p.Q73 1.000 NULL pfscan_EF_HAND_2 - no_errors MCFD2 HGNC ENSG00000180398 68 0 0.00 41 19 31.67 - - - MS4A3 0 genome.wustl.edu 37 11 59828754 59828754 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 11 59828754 59828754 C T SNP MS4A3 ENST00000278865 human ensembl 69_37n +1 known missense c.121 p.P41S 0.001 NULL pfam_CD20-like - no_errors MS4A3 HGNC ENSG00000149516 62 0 0.00 18 18 50.00 - - - MYADML 0 genome.wustl.edu 37 2 33953083 33953083 + RNA SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 2 33953083 33953083 G T SNP MYADML ENST00000474610 human ensembl 69_37n -1 known rna NULL NULL 0.129 - - - no_errors MYADML HGNC ENSG00000239649 25 0 0.00 13 14 51.85 - - - NHSL1 0 genome.wustl.edu 37 6 138754790 138754790 + Missense_Mutation SNP T T C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 6 138754790 138754790 T C SNP NHSL1 ENST00000427025 human ensembl 69_37n -1 known missense c.704 p.D235G 0.018 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 26 0 0.00 13 13 50.00 - - - OR9Q1 0 genome.wustl.edu 37 11 57947195 57947195 + Silent SNP T T G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 11 57947195 57947195 T G SNP OR9Q1 ENST00000335397 human ensembl 69_37n +1 known silent c.279 p.S93 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR9Q1 HGNC ENSG00000186509 94 0 0.00 34 14 28.57 - - - PDPR 0 genome.wustl.edu 37 16 70165273 70165273 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 16 70165273 70165273 C G SNP PDPR ENST00000288050 human ensembl 69_37n +1 known missense c.798 p.F266L 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 163 0 0.00 60 42 41.18 - - - PHLDB2 0 genome.wustl.edu 37 3 111685514 111685514 + Missense_Mutation SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 3 111685514 111685514 G T SNP PHLDB2 ENST00000393925 human ensembl 69_37n +1 known missense c.3132 p.Q1044H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 40 0 0.00 40 21 34.43 - - - PIK3CA 0 genome.wustl.edu 37 3 178936083 178936083 + Missense_Mutation SNP A A G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 3 178936083 178936083 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1625 p.E542G 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 74 0 0.00 43 22 33.85 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 34 0 0.00 26 12 31.58 - - - PKD1 0 genome.wustl.edu 37 16 2143825 2143825 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 16 2143825 2143825 C G SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known missense c.10808 p.W3603S 0.999 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 36 0 0.00 32 10 23.81 - - - PKHD1 0 genome.wustl.edu 37 6 51612854 51612854 + Missense_Mutation SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 6 51612854 51612854 G T SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.9560 p.S3187Y 0.006 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 38 0 0.00 23 13 36.11 - - - PKM 0 genome.wustl.edu 37 15 72492088 72492088 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 15 72492088 72492088 C T SNP PKM ENST00000319622 human ensembl 69_37n -1 known missense c.1499 p.R500Q 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 23 0 0.00 33 12 26.67 - - - PPEF2 0 genome.wustl.edu 37 4 76797716 76797716 + Silent SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 4 76797716 76797716 G A SNP PPEF2 ENST00000286719 human ensembl 69_37n -1 known silent c.1044 p.L348 0.687 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_HAND_2 - no_errors PPEF2 HGNC ENSG00000156194 88 0 0.00 41 28 40.58 - - - PPP6R2 0 genome.wustl.edu 37 22 50857837 50857837 + Missense_Mutation SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 22 50857837 50857837 G T SNP PPP6R2 ENST00000216061 human ensembl 69_37n +1 known missense c.791 p.C264F 1.000 pfam_SAPS pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 44 0 0.00 35 4 10.26 - - - PTK2 0 genome.wustl.edu 37 8 141762030 141762030 + Silent SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 8 141762030 141762030 C T SNP PTK2 ENST00000524202 human ensembl 69_37n -1 known silent c.912 p.L304 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_FERM_central,superfamily_Kinase-like_dom,pfscan_FERM_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PTK2 HGNC ENSG00000169398 77 0 0.00 68 10 12.82 - - - RASA4 0 genome.wustl.edu 37 7 102236503 102236503 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 7 102236503 102236503 G A SNP RASA4 ENST00000262940 human ensembl 69_37n -1 known missense c.811 p.P271S 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA4 HGNC ENSG00000105808 11 0 0.00 9 4 30.77 - - - RIMS2 0 genome.wustl.edu 37 8 104987653 104987653 + Missense_Mutation SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 8 104987653 104987653 G T SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known missense c.2846 p.C949F 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 RIMS2 HGNC ENSG00000176406 49 0 0.00 35 4 10.26 - - - RNF111 0 genome.wustl.edu 37 15 59373484 59373484 + Splice_Site SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 15 59373484 59373484 G A SNP RNF111 ENST00000434298 human ensembl 69_37n +1 known splice_site c.2297+1 e7+1 1.000 - - - no_errors RNF111 HGNC ENSG00000157450 65 0 0.00 12 26 68.42 - - - ROPN1 0 genome.wustl.edu 37 3 123694370 123694370 + Silent SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 3 123694370 123694370 G A SNP ROPN1 ENST00000184183 human ensembl 69_37n -1 known silent c.252 p.I84 0.985 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1 HGNC ENSG00000065371 35 0 0.00 19 12 38.71 - - - RPL18A 0 genome.wustl.edu 37 19 17972988 17972988 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 19 17972988 17972988 G A SNP RPL18A ENST00000222247 human ensembl 69_37n +1 known missense c.284 p.R95Q 1.000 pfam_Ribosomal_L18a/LX pfam_Ribosomal_L18a/LX - no_errors RPL18A HGNC ENSG00000105640 89 0 0.00 72 35 32.71 - - - SBF1 0 genome.wustl.edu 37 22 50903481 50903481 + Silent SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 22 50903481 50903481 G T SNP SBF1 ENST00000380817 human ensembl 69_37n -1 known silent c.1281 p.G427 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 58 0 0.00 34 4 10.53 - - - SFSWAP 0 genome.wustl.edu 37 12 132284271 132284271 + RNA SNP T T A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 12 132284271 132284271 T A SNP SFSWAP ENST00000539506 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SFSWAP HGNC ENSG00000061936 35 0 0.00 34 12 26.09 - - - SI 0 genome.wustl.edu 37 3 164776994 164776994 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 3 164776994 164776994 C T SNP SI ENST00000264382 human ensembl 69_37n -1 known missense c.1240 p.D414N 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 46 0 0.00 39 18 31.58 - - - SLC15A5 0 genome.wustl.edu 37 12 16430532 16430532 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 12 16430532 16430532 C T SNP SLC15A5 ENST00000344941 human ensembl 69_37n -1 novel missense c.88 p.D30N 0.000 NULL pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 52 0 0.00 47 10 17.54 - - - SLC1A7 0 genome.wustl.edu 37 1 53608037 53608037 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 53608037 53608037 C T SNP SLC1A7 ENST00000371494 human ensembl 69_37n -1 known missense c.85 p.V29M 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 47 0 0.00 24 15 38.46 - - - SPEN 0 genome.wustl.edu 37 1 16260594 16260595 + Frame_Shift_Ins INS - - T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 16260594 16260595 - T INS SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_ins c.7859_7860 p.V2621fs 1.000:0.989 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 72 0 0.00 17 32 65.31 - - - SPRYD3 0 genome.wustl.edu 37 12 53468492 53468492 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 12 53468492 53468492 C T SNP SPRYD3 ENST00000301463 human ensembl 69_37n -1 known missense c.448 p.E150K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD3 HGNC ENSG00000167778 57 0 0.00 16 21 56.76 - - - SPTA1 0 genome.wustl.edu 37 1 158615326 158615326 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 158615326 158615326 C G SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.3955 p.E1319Q 0.251 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 41 0 0.00 35 4 10.26 - - - SUGP1 0 genome.wustl.edu 37 19 19420925 19420925 + Missense_Mutation SNP C C A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 19 19420925 19420925 C A SNP SUGP1 ENST00000247001 human ensembl 69_37n -1 known missense c.291 p.Q97H 1.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 37 0 0.00 32 4 11.11 - - - TPTE 0 genome.wustl.edu 37 21 10916377 10916377 + Silent SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 21 10916377 10916377 C T SNP TPTE ENST00000361285 human ensembl 69_37n -1 known silent c.1269 p.S423 0.795 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 208 0 0.00 111 36 24.49 - - - TRAV12-1 0 genome.wustl.edu 37 14 22309792 22309792 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 14 22309792 22309792 G A SNP TRAV12-1 ENST00000390433 human ensembl 69_37n +1 known missense c.173 p.R58K 0.862 pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRAV12-1 HGNC ENSG00000211785 119 0 0.00 60 38 38.78 - - - TRPM3 0 genome.wustl.edu 37 9 73736264 73736264 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 9 73736264 73736264 C G SNP TRPM3 ENST00000377110 human ensembl 69_37n -1 known missense c.7 p.E3Q 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 27 0 0.00 15 12 44.44 - - - TTC3 0 genome.wustl.edu 37 21 38538480 38538480 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 21 38538480 38538480 C T SNP TTC3 ENST00000354749 human ensembl 69_37n +1 known missense c.3964 p.P1322S 0.837 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 91 0 0.00 66 39 37.14 - - - TTC34 0 genome.wustl.edu 37 1 2573070 2573070 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 1 2573070 2573070 C T SNP TTC34 ENST00000401095 human ensembl 69_37n -1 known missense c.1438 p.E480K 0.028 smart_TPR_repeat,pfscan_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC34 HGNC ENSG00000215912 20 0 0.00 1 6 85.71 - - - TTC40 0 genome.wustl.edu 37 10 134664664 134664664 + Missense_Mutation SNP G G A TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 10 134664664 134664664 G A SNP TTC40 ENST00000263170 human ensembl 69_37n -1 known missense c.203 p.A68V 0.007 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 57 0 0.00 8 26 76.47 - - - UBAP1L 0 genome.wustl.edu 37 15 65394977 65394977 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 15 65394977 65394977 C T SNP UBAP1L ENST00000502113 human ensembl 69_37n -1 known missense c.166 p.A56T 0.541 NULL superfamily_UBA-like - no_errors UBAP1L HGNC ENSG00000246922 47 0 0.00 21 11 34.38 - - - UROS 0 genome.wustl.edu 37 10 127495986 127495986 + Silent SNP A A G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 10 127495986 127495986 A G SNP UROS ENST00000368786 human ensembl 69_37n -1 known silent c.390 p.C130 0.999 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 60 0 0.00 28 4 12.50 - - - VPS25 0 genome.wustl.edu 37 17 40931001 40931001 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 17 40931001 40931001 C G SNP VPS25 ENST00000253794 human ensembl 69_37n +1 known missense c.445 p.L149V 1.000 NULL pfam_ESCRT-II_cplx_vps25-sub - no_errors VPS25 HGNC ENSG00000131475 64 0 0.00 17 29 63.04 - - - VPS26B 0 genome.wustl.edu 37 11 134115464 134115464 + Missense_Mutation SNP G G C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 11 134115464 134115464 G C SNP VPS26B ENST00000281187 human ensembl 69_37n +1 known missense c.991 p.D331H 0.996 NULL pfam_VPS26,superfamily_Ig_E-set - no_errors VPS26B HGNC ENSG00000151502 70 0 0.00 29 9 23.68 - - - WBP11 0 genome.wustl.edu 37 12 14946764 14946764 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 12 14946764 14946764 C T SNP WBP11 ENST00000261167 human ensembl 69_37n -1 known missense c.814 p.D272N 1.000 NULL pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 140 0 0.00 113 18 13.74 - - - XIST 0 genome.wustl.edu 37 X 73070710 73070710 + RNA SNP G G T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d X 73070710 73070710 G T SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 46 0 0.00 21 6 22.22 - - - XKRX 0 genome.wustl.edu 37 X 100169375 100169375 + Missense_Mutation SNP C C G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d X 100169375 100169375 C G SNP XKRX ENST00000328526 human ensembl 69_37n -1 known missense c.1341 p.E447D 0.039 NULL pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 71 0 0.00 46 6 11.54 - - - ZCCHC10 0 genome.wustl.edu 37 5 132358535 132358535 + Silent SNP A A G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 5 132358535 132358535 A G SNP ZCCHC10 ENST00000513541 human ensembl 69_37n -1 putative silent c.105 p.I35 0.089 NULL superfamily_Znf_CCHC - no_errors ZCCHC10 HGNC ENSG00000155329 44 0 0.00 22 20 47.62 - - - ZNF814 0 genome.wustl.edu 37 19 58385913 58385913 + Missense_Mutation SNP A A G TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 19 58385913 58385913 A G SNP ZNF814 ENST00000435989 human ensembl 69_37n -1 known missense c.845 p.V282A 0.000 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 ZNF814 HGNC ENSG00000204514 69 0 0.00 52 10 16.13 - - - ZP1 0 genome.wustl.edu 37 11 60642617 60642617 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7043c94f-65c4-4e87-b124-b6fe5b26a5c6 2aa15aea-b63c-4460-9211-586b8a360c8d 11 60642617 60642617 C T SNP ZP1 ENST00000278853 human ensembl 69_37n +1 known missense c.1670 p.S557L 0.001 NULL pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP1 HGNC ENSG00000149506 18 0 0.00 6 4 40.00 - - -