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 ABTB2 0 genome.wustl.edu 37 11 34192619 34192619 + Splice_Site SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 11 34192619 34192619 C T SNP ABTB2 ENST00000435224 human ensembl 69_37n -1 known splice_site c.1398-1 e5-1 1.000 - - - no_errors ABTB2 HGNC ENSG00000166016 42 0 0.00 6 17 73.91 - - - ADAMTS20 0 genome.wustl.edu 37 12 43823449 43823449 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 12 43823449 43823449 C T SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.3460 p.A1154T 0.644 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 71 0 0.00 66 24 26.67 - - - ASTN1 0 genome.wustl.edu 37 1 176863701 176863701 + Silent SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 176863701 176863701 C T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known silent c.2961 p.Q987 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 78 0 0.00 90 23 20.35 - - - AXIN2 0 genome.wustl.edu 37 17 63554225 63554225 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 17 63554225 63554225 C G SNP AXIN2 ENST00000307078 human ensembl 69_37n -1 known missense c.514 p.D172H 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC ENSG00000168646 162 0 0.00 107 52 32.70 - - - BMS1P4 0 genome.wustl.edu 37 10 75481226 75481226 + RNA SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 10 75481226 75481226 C T SNP BMS1P4 ENST00000399449 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 48 0 0.00 30 7 18.92 - - - C1orf198 0 genome.wustl.edu 37 1 230979431 230979431 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 230979431 230979431 C T SNP C1orf198 ENST00000366663 human ensembl 69_37n -1 known missense c.596 p.R199Q 1.000 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 40 0 0.00 50 18 26.47 - - - C1orf226 0 genome.wustl.edu 37 1 162351892 162351892 + Silent SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 162351892 162351892 G A SNP C1orf226 ENST00000426197 human ensembl 69_37n +1 known silent c.330 p.R110 0.999 NULL NULL - no_errors C1orf226 HGNC ENSG00000239887 14 0 0.00 15 18 54.55 - - - CAMK2A 0 genome.wustl.edu 37 5 149637130 149637130 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 5 149637130 149637130 C T SNP CAMK2A ENST00000398376 human ensembl 69_37n -1 known missense c.268 p.D90N 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 74 0 0.00 51 30 37.04 - - - CAMSAP3 0 genome.wustl.edu 37 19 7676908 7676908 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 19 7676908 7676908 C T SNP CAMSAP3 ENST00000446248 human ensembl 69_37n +1 known missense c.1610 p.S537F 0.095 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 38 0 0.00 16 17 51.52 - - - CATSPER2 0 genome.wustl.edu 37 15 43940189 43940189 + Missense_Mutation SNP T T A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 15 43940189 43940189 T A SNP CATSPER2 ENST00000299989 human ensembl 69_37n -1 known missense c.71 p.D24V 0.998 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 83 0 0.00 49 33 40.24 - - - CD19 0 genome.wustl.edu 37 16 28948602 28948605 + Frame_Shift_Del DEL AGAG AGAG - TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 16 28948602 28948605 AGAG - DEL CD19 ENST00000538922 human ensembl 69_37n +1 known frame_shift_del c.1209_1212 p.E404fs 0.993:0.996:0.999:1.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC ENSG00000177455 23 0 0.00 26 22 45.83 - - - CD300LG 0 genome.wustl.edu 37 17 41939193 41939193 + Nonsense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 17 41939193 41939193 C T SNP CD300LG ENST00000317310 human ensembl 69_37n +1 known nonsense c.913 p.Q305* 0.008 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LG HGNC ENSG00000161649 29 0 0.00 30 15 33.33 - - - CNTN6 0 genome.wustl.edu 37 3 1414111 1414111 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 3 1414111 1414111 G A SNP CNTN6 ENST00000350110 human ensembl 69_37n +1 known missense c.1621 p.V541I 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 134 0 0.00 86 48 35.82 - - - CTCF 0 genome.wustl.edu 37 16 67662443 67662443 + Silent SNP A A T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 16 67662443 67662443 A T SNP CTCF ENST00000264010 human ensembl 69_37n +1 known silent c.1689 p.T563 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 141 0 0.00 40 38 48.72 - - - CYP11B1 0 genome.wustl.edu 37 8 143957771 143957771 + Silent SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 8 143957771 143957771 G A SNP CYP11B1 ENST00000292427 human ensembl 69_37n -1 known silent c.840 p.F280 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 102 0 0.00 131 30 18.63 - - - DAB2 0 genome.wustl.edu 37 5 39383284 39383284 + Silent SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 5 39383284 39383284 G A SNP DAB2 ENST00000320816 human ensembl 69_37n -1 known silent c.777 p.G259 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB2 HGNC ENSG00000153071 109 0 0.00 76 39 33.91 - - - DNAH3 0 genome.wustl.edu 37 16 20976523 20976523 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 16 20976523 20976523 C T SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.8683 p.D2895N 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 69 0 0.00 34 56 62.22 - - - EPOR 0 genome.wustl.edu 37 19 11489402 11489402 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 19 11489402 11489402 C G SNP EPOR ENST00000222139 human ensembl 69_37n -1 known missense c.880 p.E294Q 0.957 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 58 0 0.00 32 7 17.95 - - - EYA4 0 genome.wustl.edu 37 6 133783840 133783840 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 6 133783840 133783840 G A SNP EYA4 ENST00000355167 human ensembl 69_37n +1 known missense c.662 p.S221N 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 72 0 0.00 38 19 33.33 - - - F8 0 genome.wustl.edu 37 X 154124399 154124399 + Missense_Mutation SNP C C A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 X 154124399 154124399 C A SNP F8 ENST00000360256 human ensembl 69_37n -1 known missense c.6382 p.G2128W 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 68 0 0.00 47 23 32.86 - - - FAM227B 0 genome.wustl.edu 37 15 49659665 49659665 + Silent SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 15 49659665 49659665 G A SNP FAM227B ENST00000299338 human ensembl 69_37n -1 known silent c.1251 p.L417 0.169 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 91 0 0.00 73 24 24.74 - - - FAM81B 0 genome.wustl.edu 37 5 94749730 94749730 + Missense_Mutation SNP A A G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 5 94749730 94749730 A G SNP FAM81B ENST00000283357 human ensembl 69_37n +1 known missense c.373 p.I125V 0.719 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 94 0 0.00 75 40 34.78 - - - FANCG 0 genome.wustl.edu 37 9 35076497 35076497 + Silent SNP T T C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 9 35076497 35076497 T C SNP FANCG ENST00000378643 human ensembl 69_37n -1 known silent c.1008 p.S336 0.768 NULL superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 84 0 0.00 22 26 54.17 - - - FBXO32 0 genome.wustl.edu 37 8 124526556 124526556 + Silent SNP T T C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 8 124526556 124526556 T C SNP FBXO32 ENST00000517956 human ensembl 69_37n -1 known silent c.390 p.A130 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO32 HGNC ENSG00000156804 67 0 0.00 47 83 63.85 - - - FREM3 0 genome.wustl.edu 37 4 144617794 144617794 + Silent SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 4 144617794 144617794 G A SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative silent c.4035 p.V1345 0.997 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 134 0 0.00 88 37 29.60 - - - GOPC 0 genome.wustl.edu 37 6 117894762 117894762 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 6 117894762 117894762 C T SNP GOPC ENST00000368498 human ensembl 69_37n -1 known missense c.684 p.M228I 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GOPC HGNC ENSG00000047932 203 0 0.00 107 62 36.69 - - - GRIN2A 0 genome.wustl.edu 37 16 9857878 9857878 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 16 9857878 9857878 C T SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.3523 p.E1175K 0.351 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 111 0 0.00 93 29 23.77 - - - HADH 0 genome.wustl.edu 37 4 108954346 108954346 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 4 108954346 108954346 G A SNP HADH ENST00000403312 human ensembl 69_37n +1 known missense c.775 p.E259K 1.000 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC ENSG00000138796 119 0 0.00 71 38 34.86 - - - HCFC1 0 genome.wustl.edu 37 X 153219201 153219201 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 X 153219201 153219201 C T SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.4354 p.D1452N 0.969 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 33 0 0.00 21 12 36.36 - - - IL18R1 0 genome.wustl.edu 37 2 102998106 102998106 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 2 102998106 102998106 C G SNP IL18R1 ENST00000233957 human ensembl 69_37n +1 known missense c.652 p.L218V 0.549 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL18R1 HGNC ENSG00000115604 163 0 0.00 78 35 30.97 - - - IL20 0 genome.wustl.edu 37 1 207039354 207039354 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 207039354 207039354 G A SNP IL20 ENST00000367096 human ensembl 69_37n +1 known missense c.157 p.V53M 0.694 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-24 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-20,prints_Interleukin-24 - no_errors IL20 HGNC ENSG00000162891 57 0 0.00 61 17 21.79 - - - KCNQ3 0 genome.wustl.edu 37 8 133192479 133192479 + Silent SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 8 133192479 133192479 G A SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known silent c.702 p.I234 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 39 0 0.00 66 23 25.84 - - - KCNQ4 0 genome.wustl.edu 37 1 41300696 41300696 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 41300696 41300696 C T SNP KCNQ4 ENST00000443478 human ensembl 69_37n +1 novel missense c.1252 p.R418C 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KCNQ4 HGNC ENSG00000117013 25 0 0.00 22 8 26.67 - - - KIAA1210 0 genome.wustl.edu 37 X 118215410 118215410 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 X 118215410 118215410 C T SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.5012 p.R1671Q 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 177 0 0.00 92 85 48.02 - - - KIAA2018 0 genome.wustl.edu 37 3 113375166 113375166 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 3 113375166 113375166 C T SNP KIAA2018 ENST00000316407 human ensembl 69_37n -1 known missense c.5363 p.R1788H 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors KIAA2018 HGNC ENSG00000176542 55 0 0.00 37 21 36.21 - - - KIF23 0 genome.wustl.edu 37 15 69733225 69733225 + Missense_Mutation SNP G G C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 15 69733225 69733225 G C SNP KIF23 ENST00000260363 human ensembl 69_37n +1 known missense c.2186 p.W729S 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 73 0 0.00 63 23 26.74 - - - LRP4 0 genome.wustl.edu 37 11 46920500 46920500 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 11 46920500 46920500 C G SNP LRP4 ENST00000378623 human ensembl 69_37n -1 known missense c.631 p.D211H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 27 0 0.00 6 6 50.00 - - - LRRIQ1 0 genome.wustl.edu 37 12 85438525 85438525 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 12 85438525 85438525 C T SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.274 p.H92Y 0.587 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 58 0 0.00 57 19 25.00 - - - MAB21L3 0 genome.wustl.edu 37 1 116670894 116670894 + Missense_Mutation SNP G G C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 116670894 116670894 G C SNP MAB21L3 ENST00000369500 human ensembl 69_37n +1 known missense c.789 p.M263I 0.997 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L3 HGNC ENSG00000173212 103 0 0.00 34 40 54.05 - - - MMP14 0 genome.wustl.edu 37 14 23311622 23311622 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 14 23311622 23311622 C G SNP MMP14 ENST00000311852 human ensembl 69_37n +1 known missense c.384 p.I128M 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP14 HGNC ENSG00000157227 39 0 0.00 32 7 17.95 - - - MPI 0 genome.wustl.edu 37 15 75188521 75188521 + Silent SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 15 75188521 75188521 C T SNP MPI ENST00000352410 human ensembl 69_37n +1 known silent c.699 p.I233 0.068 pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 - no_errors MPI HGNC ENSG00000178802 74 0 0.00 40 19 32.20 - - - MRPL3 0 genome.wustl.edu 37 3 131188558 131188558 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 3 131188558 131188558 C T SNP MRPL3 ENST00000511168 human ensembl 69_37n -1 putative missense c.841 p.D281N 0.991 pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MRPL3 HGNC ENSG00000114686 120 0 0.00 78 25 24.27 - - - MRPL53 0 genome.wustl.edu 37 2 74699368 74699368 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 2 74699368 74699368 G A SNP MRPL53 ENST00000258105 human ensembl 69_37n -1 known missense c.217 p.R73C 1.000 superfamily_Thioredoxin-like_fold pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold - no_errors MRPL53 HGNC ENSG00000204822 20 0 0.00 24 11 31.43 - - - MRPS25 0 genome.wustl.edu 37 3 15094076 15094076 + Nonsense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 3 15094076 15094076 G A SNP MRPS25 ENST00000253686 human ensembl 69_37n -1 known nonsense c.394 p.R132* 0.836 NULL pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPS25 HGNC ENSG00000131368 59 0 0.00 44 41 48.24 - - - MVP 0 genome.wustl.edu 37 16 29853120 29853120 + Silent SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 16 29853120 29853120 C T SNP MVP ENST00000357402 human ensembl 69_37n +1 known silent c.1395 p.N465 0.079 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 21 0 0.00 18 11 37.93 - - - MYH13 0 genome.wustl.edu 37 17 10265677 10265677 + Silent SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 17 10265677 10265677 G A SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known silent c.348 p.Y116 0.997 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 246 0 0.00 78 100 56.18 - - - MYH8 0 genome.wustl.edu 37 17 10312639 10312639 + Missense_Mutation SNP C C A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 17 10312639 10312639 C A SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.1854 p.K618N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 63 0 0.00 44 11 20.00 - - - NAMPT 0 genome.wustl.edu 37 7 105893591 105893591 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 7 105893591 105893591 C G SNP NAMPT ENST00000222553 human ensembl 69_37n -1 known missense c.1237 p.V413L 1.000 pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 91 0 0.00 59 25 29.76 - - - NCR1 0 genome.wustl.edu 37 19 55420647 55420647 + Silent SNP A A G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 19 55420647 55420647 A G SNP NCR1 ENST00000291890 human ensembl 69_37n +1 known silent c.399 p.E133 0.033 smart_Ig_sub smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 44 0 0.00 38 19 33.33 - - - NIPBL 0 genome.wustl.edu 37 5 37020923 37020923 + Nonsense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 5 37020923 37020923 C T SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known nonsense c.5272 p.R1758* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 126 0 0.00 104 39 27.27 - - - NKAIN2 0 genome.wustl.edu 37 6 124604227 124604227 + Missense_Mutation SNP T T A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 6 124604227 124604227 T A SNP NKAIN2 ENST00000368417 human ensembl 69_37n +1 known missense c.131 p.I44N 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 193 0 0.00 113 60 34.68 - - - NLGN4X 0 genome.wustl.edu 37 X 5811360 5811360 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 X 5811360 5811360 G A SNP NLGN4X ENST00000381093 human ensembl 69_37n -1 known missense c.2009 p.S670F 0.997 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 189 0 0.00 95 40 29.63 - - - OR2V1 0 genome.wustl.edu 37 5 180551416 180551416 + Frame_Shift_Del DEL C C - TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 5 180551416 180551416 C - DEL OR2V1 ENST00000329365 human ensembl 69_37n -1 known frame_shift_del c.889 p.E297fs 0.989 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2V1 HGNC ENSG00000185372 30 0 0.00 21 7 25.00 - - - P4HA3 0 genome.wustl.edu 37 11 73978162 73978162 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 11 73978162 73978162 C T SNP P4HA3 ENST00000427714 human ensembl 69_37n -1 putative missense c.1759 p.A587T 0.000 NULL pfam_Pro_4_hyd_alph_N,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 17 0 0.00 19 24 55.81 - - - PCDHB3 0 genome.wustl.edu 37 5 140482555 140482555 + Missense_Mutation SNP C C A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 5 140482555 140482555 C A SNP PCDHB3 ENST00000231130 human ensembl 69_37n +1 known missense c.2322 p.F774L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 144 0 0.00 89 43 32.58 - - - PCLO 0 genome.wustl.edu 37 7 82544011 82544011 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 7 82544011 82544011 C G SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.13291 p.D4431H 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 71 0 0.00 51 27 34.62 - - - PDZD2 0 genome.wustl.edu 37 5 31799670 31799670 + Missense_Mutation SNP G G C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 5 31799670 31799670 G C SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.315 p.K105N 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 87 0 0.00 55 23 29.49 - - - PIK3CB 0 genome.wustl.edu 37 3 138374293 138374293 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 3 138374293 138374293 C T SNP PIK3CB ENST00000289153 human ensembl 69_37n -1 known missense c.3151 p.E1051K 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,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 PIK3CB HGNC ENSG00000051382 61 0 0.00 67 29 30.21 - - - POLI 0 genome.wustl.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 CGA CGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 18 51795958 51795960 CGA - DEL POLI ENST00000579534 human ensembl 69_37n +1 known in_frame_del c.42_44 p.D17in_frame_del 0.000:0.000:0.000 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC ENSG00000101751 9 0 0.00 4 2 33.33 - - - POTEM 0 genome.wustl.edu 37 14 20020113 20020113 + Silent SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 14 20020113 20020113 C T SNP POTEM ENST00000547848 human ensembl 69_37n -1 known silent c.108 p.R36 0.101 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 12 0 0.00 11 6 35.29 - - - PPAPDC1B 0 genome.wustl.edu 37 8 38124737 38124737 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 8 38124737 38124737 C G SNP PPAPDC1B ENST00000419686 human ensembl 69_37n -1 known missense c.511 p.E171Q 0.043 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1B HGNC ENSG00000147535 72 0 0.00 203 114 35.74 - - - PRG4 0 genome.wustl.edu 37 1 186280194 186280194 + Silent SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 186280194 186280194 C T SNP PRG4 ENST00000445192 human ensembl 69_37n +1 known silent c.3528 p.F1176 0.005 superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 163 0 0.00 150 61 28.91 - - - PVRL4 0 genome.wustl.edu 37 1 161043062 161043062 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 161043062 161043062 C G SNP PVRL4 ENST00000368012 human ensembl 69_37n -1 known missense c.1261 p.E421Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PVRL4 HGNC ENSG00000143217 31 0 0.00 41 14 25.45 - - - RALGAPA1 0 genome.wustl.edu 37 14 36192403 36192403 + Nonsense_Mutation SNP A A T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 14 36192403 36192403 A T SNP RALGAPA1 ENST00000258840 human ensembl 69_37n -1 known nonsense c.1934 p.L645* 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 65 0 0.00 61 33 35.11 - - - RASAL2 0 genome.wustl.edu 37 1 178408562 178408562 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 178408562 178408562 G A SNP RASAL2 ENST00000367649 human ensembl 69_37n +1 known missense c.680 p.R227H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 77 0 0.00 46 38 45.24 - - - RBM12B 0 genome.wustl.edu 37 8 94747082 94747082 + Silent SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 8 94747082 94747082 G A SNP RBM12B ENST00000399300 human ensembl 69_37n -1 known silent c.1557 p.Y519 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 53 0 0.00 50 47 48.45 - - - RBM6 0 genome.wustl.edu 37 3 50091779 50091779 + Missense_Mutation SNP C C G TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 3 50091779 50091779 C G SNP RBM6 ENST00000266022 human ensembl 69_37n +1 known missense c.1644 p.N548K 0.672 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 107 0 0.00 30 48 61.54 - - - RMND5A 0 genome.wustl.edu 37 2 86993049 86993049 + Missense_Mutation SNP C C A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 2 86993049 86993049 C A SNP RMND5A ENST00000283632 human ensembl 69_37n +1 known missense c.756 p.H252Q 1.000 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5A HGNC ENSG00000153561 136 0 0.00 65 35 35.00 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 20 0 0.00 11 4 26.67 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037883 10037883 + RNA SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 Y 10037883 10037883 G A SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 17 0 0.00 9 4 30.77 - - - SACS 0 genome.wustl.edu 37 13 23915127 23915127 + Missense_Mutation SNP G G C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 13 23915127 23915127 G C SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.2888 p.S963C 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 53 0 0.00 12 24 66.67 - - - SLC4A3 0 genome.wustl.edu 37 2 220501075 220501075 + Missense_Mutation SNP C C A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 2 220501075 220501075 C A SNP SLC4A3 ENST00000273063 human ensembl 69_37n +1 known missense c.2324 p.A775D 0.983 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 51 0 0.00 33 16 32.65 - - - SMC4 0 genome.wustl.edu 37 3 160141276 160141276 + Missense_Mutation SNP G G C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 3 160141276 160141276 G C SNP SMC4 ENST00000344722 human ensembl 69_37n +1 known missense c.2083 p.D695H 1.000 pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 68 0 0.00 57 22 27.85 - - - SNORA72 0 genome.wustl.edu 37 8 99053990 99053990 + RNA SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 8 99053990 99053990 G A SNP SNORA72 ENST00000501016 human ensembl 69_37n +1 known rna NULL NULL 0.119 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 96 0 0.00 139 41 22.78 - - - SRGAP2 0 genome.wustl.edu 37 1 206619542 206619542 + Missense_Mutation SNP G G C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 1 206619542 206619542 G C SNP SRGAP2 ENST00000414007 human ensembl 69_37n +1 known missense c.1576 p.E526Q 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon SRGAP2 HGNC ENSG00000163486 63 0 0.00 68 17 19.77 - - - TBX18 0 genome.wustl.edu 37 6 85466511 85466511 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 6 85466511 85466511 G A SNP TBX18 ENST00000369663 human ensembl 69_37n -1 known missense c.676 p.P226S 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 46 0 0.00 26 25 49.02 - - - TC2N 0 genome.wustl.edu 37 14 92268677 92268677 + Missense_Mutation SNP G G C TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 14 92268677 92268677 G C SNP TC2N ENST00000340892 human ensembl 69_37n -1 known missense c.390 p.F130L 0.992 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors TC2N HGNC ENSG00000165929 68 0 0.00 47 15 24.19 - - - TET1 0 genome.wustl.edu 37 10 70333071 70333071 + Missense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 10 70333071 70333071 G A SNP TET1 ENST00000373644 human ensembl 69_37n +1 known missense c.976 p.V326I 0.985 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 46 0 0.00 29 19 39.58 - - - TGM1 0 genome.wustl.edu 37 14 24729190 24729190 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 14 24729190 24729190 C T SNP TGM1 ENST00000206765 human ensembl 69_37n -1 known missense c.832 p.G278R 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 46 0 0.00 22 13 37.14 - - - THAP9 0 genome.wustl.edu 37 4 83839429 83839429 + Silent SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 4 83839429 83839429 C T SNP THAP9 ENST00000302236 human ensembl 69_37n +1 known silent c.2064 p.H688 0.001 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 42 0 0.00 31 19 38.00 - - - TRIML1 0 genome.wustl.edu 37 4 189061035 189061035 + Missense_Mutation SNP A A T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 4 189061035 189061035 A T SNP TRIML1 ENST00000332517 human ensembl 69_37n +1 known missense c.323 p.D108V 0.005 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 19 0 0.00 20 7 25.93 - - - TRMT10C 0 genome.wustl.edu 37 3 101284455 101284455 + Missense_Mutation SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 3 101284455 101284455 C T SNP TRMT10C ENST00000309922 human ensembl 69_37n +1 known missense c.830 p.S277F 0.978 pfam_tRNA_m1G_MeTrfase pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 39 0 0.00 33 16 32.65 - - - VSIG4 0 genome.wustl.edu 37 X 65247938 65247938 + Nonsense_Mutation SNP G G A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63a9d14f-d91a-47af-8ef6-8124193aa110 d6936adf-adbc-4cb1-b7cb-c7ef255864d1 X 65247938 65247938 G A SNP VSIG4 ENST00000427538 human ensembl 69_37n -1 known nonsense c.490 p.Q164* 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VSIG4 HGNC ENSG00000155659 185 0 0.00 80 63 44.06 - - -