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 ABCA10 0 genome.wustl.edu 37 17 67183897 67183897 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 67183897 67183897 C T SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known nonsense c.2255 p.W752* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 72 0 0.00 88 27 23.48 - - - ABCB6 0 genome.wustl.edu 37 2 220081432 220081432 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 220081432 220081432 C - DEL ABCB6 ENST00000265316 human ensembl 69_37n -1 known frame_shift_del c.810 p.L271fs 0.510 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB6 HGNC ENSG00000115657 23 0 0.00 13 6 31.58 - - - ABTB1 0 genome.wustl.edu 37 3 127395142 127395142 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 127395142 127395142 C T SNP ABTB1 ENST00000232744 human ensembl 69_37n +1 known silent c.348 p.D116 0.978 pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 76 0 0.00 25 15 37.50 - - - ABTB1 0 genome.wustl.edu 37 3 127396605 127396605 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 127396605 127396605 C - DEL ABTB1 ENST00000232744 human ensembl 69_37n +1 known frame_shift_del c.948 p.P318fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 24 0 0.00 12 2 14.29 - - - ACE 0 genome.wustl.edu 37 17 61557230 61557230 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 61557230 61557230 C T SNP ACE ENST00000290866 human ensembl 69_37n +1 known silent c.612 p.Y204 0.329 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 33 0 0.00 16 4 20.00 - - - ACSM2A 0 genome.wustl.edu 37 16 20487095 20487095 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 20487095 20487095 G A SNP ACSM2A ENST00000219054 human ensembl 69_37n +1 known silent c.1098 p.T366 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 46 0 0.00 64 10 13.33 - - - ADAMTS13 0 genome.wustl.edu 37 9 136307529 136307529 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 9 136307529 136307529 C T SNP ADAMTS13 ENST00000371929 human ensembl 69_37n +1 known missense c.1978 p.R660W 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 49 0 0.00 24 7 22.58 - - - AHCTF1 0 genome.wustl.edu 37 1 247053342 247053342 + Silent SNP T T C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 247053342 247053342 T C SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known silent c.2097 p.S699 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 63 0 0.00 112 16 12.50 - - - AKD1 0 genome.wustl.edu 37 6 109906406 109906406 + Missense_Mutation SNP C C G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 6 109906406 109906406 C G SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known missense c.2034 p.K678N 0.944 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 27 0 0.00 23 5 17.86 - - - ALX4 0 genome.wustl.edu 37 11 44289156 44289156 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 44289156 44289156 C T SNP ALX4 ENST00000329255 human ensembl 69_37n -1 known missense c.794 p.R265Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors ALX4 HGNC ENSG00000052850 58 0 0.00 39 11 22.00 - - - ANK2 0 genome.wustl.edu 37 4 114251533 114251533 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 4 114251533 114251533 G A SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.3032 p.R1011H 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 58 0 0.00 48 12 20.00 - - - ANKLE2 0 genome.wustl.edu 37 12 133324459 133324459 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 133324459 133324459 G A SNP ANKLE2 ENST00000357997 human ensembl 69_37n -1 known missense c.1189 p.R397C 0.012 superfamily_Ankyrin_rpt-contain_dom pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ENSG00000176915 89 0 0.00 51 16 23.88 - - - AP1B1 0 genome.wustl.edu 37 22 29726657 29726657 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 22 29726657 29726657 C T SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known missense c.2566 p.E856K 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP1B1 HGNC ENSG00000100280 43 0 0.00 10 18 64.29 - - - APMAP 0 genome.wustl.edu 37 20 24949624 24949624 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 20 24949624 24949624 C - DEL APMAP ENST00000217456 human ensembl 69_37n -1 known frame_shift_del c.945 p.Y316fs 0.025 pfam_SGL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 30 0 0.00 59 7 10.61 - - - ARHGEF5 0 genome.wustl.edu 37 7 144068342 144068342 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 7 144068342 144068342 G A SNP ARHGEF5 ENST00000056217 human ensembl 69_37n +1 known missense c.3620 p.R1207Q 0.141 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 80 0 0.00 54 9 14.29 - - - ATP1A4 0 genome.wustl.edu 37 1 160143454 160143454 + Silent SNP G G C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 160143454 160143454 G C SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known silent c.1938 p.T646 0.572 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 44 0 0.00 59 14 19.18 - - - ATP8B1 0 genome.wustl.edu 37 18 55355712 55355712 + Silent SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 18 55355712 55355712 A G SNP ATP8B1 ENST00000283684 human ensembl 69_37n -1 known silent c.1248 p.S416 0.994 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B1 HGNC ENSG00000081923 109 0 0.00 106 16 13.11 - - - AVPR1B 0 genome.wustl.edu 37 1 206224826 206224826 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 206224826 206224826 C T SNP AVPR1B ENST00000367126 human ensembl 69_37n +1 known missense c.386 p.T129M 0.999 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 29 0 0.00 20 5 20.00 - - - AXL 0 genome.wustl.edu 37 19 41743932 41743933 + Frame_Shift_Ins INS - - C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 41743932 41743933 - C INS AXL ENST00000301178 human ensembl 69_37n +1 known frame_shift_ins c.867_868 p.H291fs 0.982:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 72 0 0.00 31 4 11.43 - - - B3GALTL 0 genome.wustl.edu 37 13 31803392 31803392 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 13 31803392 31803392 A - DEL B3GALTL ENST00000343307 human ensembl 69_37n +1 known frame_shift_del c.231 p.S80fs 0.240 NULL pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 28 0 0.00 29 7 18.92 - - - BBS5 0 genome.wustl.edu 37 2 170344338 170344338 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 170344338 170344338 G A SNP BBS5 ENST00000554017 human ensembl 69_37n +1 known silent c.231 p.L77 1.000 pfam_BBL5,smart_DM16_repeat pfam_BBL5,pfam_Kelch_1,smart_DM16_repeat,smart_Kelch_1 - no_errors BBS5 HGNC ENSG00000163093 50 0 0.00 25 33 56.90 - - - BDP1 0 genome.wustl.edu 37 5 70858270 70858270 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 70858270 70858270 C T SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known nonsense c.7666 p.R2556* 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 54 0 0.00 83 15 15.31 - - - BIRC5 0 genome.wustl.edu 37 17 76219856 76219857 + RNA DEL TC TC - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 76219856 76219857 TC - DEL BIRC5 ENST00000589892 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.001 - - - no_errors BIRC5 HGNC ENSG00000089685 15 0 0.00 3 2 40.00 - - - BRE 0 genome.wustl.edu 37 2 28464261 28464261 + Splice_Site SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 28464261 28464261 G A SNP BRE ENST00000344773 human ensembl 69_37n +1 known splice_site c.851+1 e8+1 1.000 - - - no_errors BRE HGNC ENSG00000158019 104 0 0.00 72 37 33.94 - - - C10orf68 0 genome.wustl.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 33018277 33018277 A - DEL C10orf68 ENST00000375025 human ensembl 69_37n +1 known frame_shift_del c.718 p.K242fs 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 36 0 0.00 51 18 26.09 - - - C16orf5 0 genome.wustl.edu 37 16 4562821 4562821 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 4562821 4562821 G A SNP C16orf5 ENST00000399599 human ensembl 69_37n -1 known silent c.486 p.F162 0.795 pfam_LITAF,smart_LITAF pfam_LITAF,smart_LITAF - no_errors C16orf5 HGNC ENSG00000089486 37 0 0.00 39 9 18.75 - - - C19orf35 0 genome.wustl.edu 37 19 2280862 2280862 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 2280862 2280862 C T SNP C19orf35 ENST00000342063 human ensembl 69_37n -1 known silent c.69 p.T23 0.003 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 44 0 0.00 5 6 54.55 - - - C1QTNF2 0 genome.wustl.edu 37 5 159776463 159776463 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 159776463 159776463 G A SNP C1QTNF2 ENST00000393975 human ensembl 69_37n -1 known silent c.705 p.G235 0.042 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 55 0 0.00 28 12 28.57 - - - C1orf173 0 genome.wustl.edu 37 1 75036916 75036916 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 75036916 75036916 G A SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known missense c.4478 p.A1493V 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 60 0 0.00 41 6 12.50 - - - C20orf112 0 genome.wustl.edu 37 20 31041163 31041163 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 20 31041163 31041163 G A SNP C20orf112 ENST00000359676 human ensembl 69_37n -1 known missense c.709 p.R237C 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 43 0 0.00 37 8 17.78 - - - CASP9 0 genome.wustl.edu 37 1 15831197 15831197 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 15831197 15831197 C T SNP CASP9 ENST00000424908 human ensembl 69_37n -1 novel missense c.301 p.G101S 0.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CASP9 HGNC ENSG00000132906 42 0 0.00 14 5 26.32 - - - CAV3 0 genome.wustl.edu 37 3 8787229 8787229 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 8787229 8787229 G A SNP CAV3 ENST00000343849 human ensembl 69_37n +1 known silent c.132 p.V44 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV3 HGNC ENSG00000182533 31 0 0.00 9 15 62.50 - - - CCDC66 0 genome.wustl.edu 37 3 56650033 56650033 + Missense_Mutation SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 56650033 56650033 A G SNP CCDC66 ENST00000394672 human ensembl 69_37n +1 known missense c.1795 p.T599A 0.001 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 61 0 0.00 23 33 58.93 - - - CCDC88C 0 genome.wustl.edu 37 14 91780360 91780360 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 14 91780360 91780360 C T SNP CCDC88C ENST00000389857 human ensembl 69_37n -1 known silent c.1800 p.T600 0.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 98 0 0.00 53 17 24.29 - - - CCDC97 0 genome.wustl.edu 37 19 41825700 41825700 + Missense_Mutation SNP G G C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 41825700 41825700 G C SNP CCDC97 ENST00000269967 human ensembl 69_37n +1 known missense c.724 p.E242Q 1.000 pfam_DUF2052_coiled-coil pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 24 0 0.00 20 7 25.93 - - - CD1E 0 genome.wustl.edu 37 1 158326370 158326370 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 158326370 158326370 A - DEL CD1E ENST00000368167 human ensembl 69_37n +1 known frame_shift_del c.987 p.K331fs 0.000 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 70 0 0.00 130 27 17.09 - - - CD9 0 genome.wustl.edu 37 12 6344725 6344725 + Silent SNP C C G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 6344725 6344725 C G SNP CD9 ENST00000009180 human ensembl 69_37n +1 known silent c.531 p.T177 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 83 0 0.00 54 12 17.91 - - - CDH1 0 genome.wustl.edu 37 16 68856129 68856129 + Splice_Site SNP G G T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 68856129 68856129 G T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known splice_site c.1936+1 e12+1 0.996 - - - no_errors CDH1 HGNC ENSG00000039068 34 0 0.00 12 17 58.62 - - - CFH 0 genome.wustl.edu 37 1 196659317 196659317 + Silent SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 196659317 196659317 A G SNP CFH ENST00000367429 human ensembl 69_37n +1 known silent c.1284 p.T428 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 52 0 0.00 75 18 19.15 - - - CHST5 0 genome.wustl.edu 37 16 75563057 75563057 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 75563057 75563057 G A SNP CHST5 ENST00000541075 human ensembl 69_37n -1 known missense c.1244 p.S415L 0.139 NULL pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 10 0 0.00 2 5 71.43 - - - CKLF 0 genome.wustl.edu 37 16 66599895 66599895 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 66599895 66599895 A - DEL CKLF ENST00000264001 human ensembl 69_37n +1 known frame_shift_del c.440 p.E150fs 0.164 NULL NULL - no_errors CKLF HGNC ENSG00000217555 52 0 0.00 30 16 32.65 - - - CPED1 0 genome.wustl.edu 37 7 120911387 120911388 + Frame_Shift_Ins INS - - A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 7 120911387 120911388 - A INS CPED1 ENST00000310396 human ensembl 69_37n +1 known frame_shift_ins c.2771_2772 p.H927fs 1.000:1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 72 0 0.00 110 16 12.70 - - - CPT1B 0 genome.wustl.edu 37 22 51015421 51015421 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 22 51015421 51015421 G A SNP CPT1B ENST00000312108 human ensembl 69_37n -1 known silent c.324 p.S108 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 60 0 0.00 22 8 26.67 - - - CRP 0 genome.wustl.edu 37 1 159683727 159683727 + Missense_Mutation SNP T T C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 159683727 159683727 T C SNP CRP ENST00000255030 human ensembl 69_37n -1 known missense c.263 p.D88G 0.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 64 0 0.00 105 22 17.32 - - - CSPP1 0 genome.wustl.edu 37 8 68089932 68089932 + Missense_Mutation SNP C C A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 68089932 68089932 C A SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.3112 p.P1038T 0.003 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 80 0 0.00 160 29 15.34 - - - DCP2 0 genome.wustl.edu 37 5 112321590 112321590 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 112321590 112321590 C T SNP DCP2 ENST00000389063 human ensembl 69_37n +1 known nonsense c.112 p.Q38* 1.000 pfam_mRNA_decapping_BoxA pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 113 0 0.00 110 26 19.12 - - - DIMT1 0 genome.wustl.edu 37 5 61688029 61688029 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 61688029 61688029 T - DEL DIMT1 ENST00000199320 human ensembl 69_37n -1 known frame_shift_del c.761 p.N254fs 1.000 pfam_rRNA_Ade_methylase_transferase,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 96 0 0.00 88 37 29.60 - - - DLG2 0 genome.wustl.edu 37 11 83195172 83195172 + Nonsense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 83195172 83195172 G A SNP DLG2 ENST00000376104 human ensembl 69_37n -1 known nonsense c.2293 p.R765* 1.000 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC ENSG00000150672 59 0 0.00 65 10 13.33 - - - DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 69_37n -1 known frame_shift_del c.2593 p.S865fs 1.000 NULL pfam_DNA_replication_fac_Dna2 - no_errors DNA2 HGNC ENSG00000138346 35 0 0.00 32 4 11.11 - - - DNAH9 0 genome.wustl.edu 37 17 11783516 11783516 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 11783516 11783516 C T SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known nonsense c.10600 p.R3534* 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 69 0 0.00 24 10 29.41 - - - DNAJC13 0 genome.wustl.edu 37 3 132153451 132153451 + Silent SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 132153451 132153451 A G SNP DNAJC13 ENST00000260818 human ensembl 69_37n +1 known silent c.57 p.S19 0.997 NULL pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 82 0 0.00 67 28 29.47 - - - DNAJC3 0 genome.wustl.edu 37 13 96443192 96443192 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 13 96443192 96443192 G A SNP DNAJC3 ENST00000376795 human ensembl 69_37n +1 known missense c.1423 p.G475S 0.926 NULL pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC3 HGNC ENSG00000102580 43 0 0.00 31 11 26.19 - - - DNAJC7 0 genome.wustl.edu 37 17 40134299 40134299 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 40134299 40134299 C T SNP DNAJC7 ENST00000457167 human ensembl 69_37n -1 known missense c.1205 p.R402Q 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_TPR-1,pfam_TPR_2,pfam_DnaJ_N,superfamily_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC7 HGNC ENSG00000168259 75 0 0.00 64 13 16.88 - - - DPYD 0 genome.wustl.edu 37 1 98058912 98058912 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 98058912 98058912 C T SNP DPYD ENST00000370192 human ensembl 69_37n -1 known silent c.990 p.S330 0.998 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 43 0 0.00 27 11 28.95 - - - DYSF 0 genome.wustl.edu 37 2 71839797 71839797 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 71839797 71839797 C - DEL DYSF ENST00000413539 human ensembl 69_37n +1 known frame_shift_del c.4287 p.I1432fs 0.989 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 33 0 0.00 14 8 36.36 - - - EEF1A1 0 genome.wustl.edu 37 6 74227940 74227940 + Silent SNP A A C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 6 74227940 74227940 A C SNP EEF1A1 ENST00000309268 human ensembl 69_37n -1 known silent c.1077 p.P359 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 43 0 0.00 33 5 13.16 - - - EHD2 0 genome.wustl.edu 37 19 48229479 48229479 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 48229479 48229479 C T SNP EHD2 ENST00000263277 human ensembl 69_37n +1 known nonsense c.913 p.R305* 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 18 0 0.00 13 4 23.53 - - - EIF4G3 0 genome.wustl.edu 37 1 21299568 21299568 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 21299568 21299568 G A SNP EIF4G3 ENST00000374937 human ensembl 69_37n -1 known missense c.371 p.P124L 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 44 0 0.00 22 18 45.00 - - - EML2 0 genome.wustl.edu 37 19 46130077 46130077 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 46130077 46130077 C T SNP EML2 ENST00000586195 human ensembl 69_37n -1 known nonsense c.347 p.W116* 1.000 NULL NULL - no_errors EML2 HGNC ENSG00000125746 27 0 0.00 27 7 20.59 - - - EP400 0 genome.wustl.edu 37 12 132474593 132474593 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 132474593 132474593 C T SNP EP400 ENST00000333577 human ensembl 69_37n +1 known missense c.2602 p.R868W 0.999 pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 22 0 0.00 19 5 20.83 - - - EPPK1 0 genome.wustl.edu 37 8 144941901 144941901 + Nonsense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 144941901 144941901 G A SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known nonsense c.5521 p.Q1841* 0.001 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 139 0 0.00 228 29 11.28 - - - FAM47C 0 genome.wustl.edu 37 X 37026807 37026807 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c X 37026807 37026807 G A SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known silent c.324 p.S108 0.002 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 74 0 0.00 57 7 10.94 - - - FCRL5 0 genome.wustl.edu 37 1 157504569 157504569 + Missense_Mutation SNP G G C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 157504569 157504569 G C SNP FCRL5 ENST00000356953 human ensembl 69_37n -1 known missense c.1516 p.Q506E 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 30 0 0.00 32 7 17.95 - - - FNDC9 0 genome.wustl.edu 37 5 156770205 156770205 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 156770205 156770205 A - DEL FNDC9 ENST00000312349 human ensembl 69_37n -1 known frame_shift_del c.340 p.W114fs 0.979 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 38 0 0.00 22 8 26.67 - - - FUBP3 0 genome.wustl.edu 37 9 133506076 133506076 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 9 133506076 133506076 C - DEL FUBP3 ENST00000319725 human ensembl 69_37n +1 known frame_shift_del c.1179 p.P395fs 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 20 0 0.00 14 6 28.57 - - - GLB1L2 0 genome.wustl.edu 37 11 134244521 134244521 + Missense_Mutation SNP T T C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 134244521 134244521 T C SNP GLB1L2 ENST00000339772 human ensembl 69_37n +1 known missense c.1733 p.I578T 1.000 superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 61 0 0.00 33 8 19.51 - - - GMPS 0 genome.wustl.edu 37 3 155652811 155652811 + Missense_Mutation SNP G G C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 155652811 155652811 G C SNP GMPS ENST00000496455 human ensembl 69_37n +1 known missense c.1783 p.A595P 1.000 pfam_GMP_synth_C pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 110 0 0.00 79 30 27.52 - - - GNA14 0 genome.wustl.edu 37 9 80040546 80040546 + Missense_Mutation SNP T T A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 9 80040546 80040546 T A SNP GNA14 ENST00000341700 human ensembl 69_37n -1 known missense c.809 p.N270I 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA14 HGNC ENSG00000156049 70 0 0.00 71 25 26.04 - - - GRIN2B 0 genome.wustl.edu 37 12 13724845 13724845 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 13724845 13724845 G A SNP GRIN2B ENST00000279593 human ensembl 69_37n -1 known silent c.2064 p.N688 0.992 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 GRIN2B HGNC ENSG00000150086 62 0 0.00 75 24 24.24 - - - GRIP1 0 genome.wustl.edu 37 12 66932939 66932939 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 66932939 66932939 G A SNP GRIP1 ENST00000359742 human ensembl 69_37n -1 known missense c.337 p.R113C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 82 0 0.00 60 23 27.71 - - - GUK1 0 genome.wustl.edu 37 1 228335369 228335369 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 228335369 228335369 G A SNP GUK1 ENST00000366722 human ensembl 69_37n +1 known silent c.438 p.R146 0.959 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin,tigrfam_Guanylate_kinase_sub pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin,tigrfam_Guanylate_kinase_sub - no_errors GUK1 HGNC ENSG00000143774 31 0 0.00 15 5 25.00 - - - HAGH 0 genome.wustl.edu 37 16 1869958 1869958 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 1869958 1869958 G A SNP HAGH ENST00000564445 human ensembl 69_37n -1 known missense c.163 p.R55W 0.857 pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HAGH HGNC ENSG00000063854 54 0 0.00 38 7 15.56 - - - HDAC11 0 genome.wustl.edu 37 3 13546039 13546039 + Silent SNP C C A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 13546039 13546039 C A SNP HDAC11 ENST00000295757 human ensembl 69_37n +1 known silent c.900 p.T300 0.936 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 40 0 0.00 19 8 29.63 - - - HMCN1 0 genome.wustl.edu 37 1 186034377 186034377 + Silent SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 186034377 186034377 A G SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known silent c.7521 p.P2507 0.756 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 42 0 0.00 41 27 39.71 - - - HRC 0 genome.wustl.edu 37 19 49656895 49656895 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 49656895 49656895 C T SNP HRC ENST00000252825 human ensembl 69_37n -1 known missense c.1600 p.E534K 0.990 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 50 0 0.00 22 31 58.49 - - - HSD17B4 0 genome.wustl.edu 37 5 118835030 118835030 + Missense_Mutation SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 118835030 118835030 A G SNP HSD17B4 ENST00000256216 human ensembl 69_37n +1 known missense c.991 p.K331E 0.010 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 76 0 0.00 82 23 21.90 - - - ICAM3 0 genome.wustl.edu 37 19 10445930 10445930 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 10445930 10445930 G A SNP ICAM3 ENST00000160262 human ensembl 69_37n -1 known missense c.749 p.S250L 0.000 NULL pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 58 0 0.00 16 9 36.00 - - - ICAM3 0 genome.wustl.edu 37 19 10449539 10449539 + Nonsense_Mutation SNP A A T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 10449539 10449539 A T SNP ICAM3 ENST00000590569 human ensembl 69_37n -1 putative nonsense c.129 p.C43* 0.001 pfam_ICAM_N pfam_ICAM_N,prints_ICAM_VCAM_N - no_stop_codon:bad_bp_length_for_coding_region ICAM3 HGNC ENSG00000076662 44 0 0.00 19 21 52.50 - - - IGHD 0 genome.wustl.edu 37 14 106307559 106307560 + Frame_Shift_Del DEL CT CT - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 14 106307559 106307560 CT - DEL IGHD ENST00000390556 human ensembl 69_37n -1 known frame_shift_del c.479_478 p.S160fs 0.001:0.003 NULL pfam_Ig_C1-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHD HGNC ENSG00000211898 23 0 0.00 14 10 41.67 - - - IL1RAP 0 genome.wustl.edu 37 3 190373953 190373953 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 190373953 190373953 C T SNP IL1RAP ENST00000443369 human ensembl 69_37n +1 known missense c.1621 p.R541W 0.745 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 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 IL1RAP HGNC ENSG00000196083 29 0 0.00 18 16 47.06 - - - INTS4L2 0 genome.wustl.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 7 65150713 65150714 - A INS INTS4L2 ENST00000430126 human ensembl 69_37n +1 known rna NULL NULL 1.000:0.995 - - - no_errors INTS4L2 HGNC ENSG00000232270 42 0 0.00 16 4 20.00 - - - ITFG2 0 genome.wustl.edu 37 12 2929346 2929346 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 2929346 2929346 G A SNP ITFG2 ENST00000228799 human ensembl 69_37n +1 known silent c.501 p.L167 0.000 superfamily_WD40_repeat_dom pfam_FG-GAP,superfamily_WD40_repeat_dom - no_errors ITFG2 HGNC ENSG00000111203 68 0 0.00 34 22 39.29 - - - JAG1 0 genome.wustl.edu 37 20 10644610 10644610 + Splice_Site SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 20 10644610 10644610 C T SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known splice_site c.439+1 e3+1 1.000 - - - no_errors JAG1 HGNC ENSG00000101384 73 0 0.00 78 16 17.02 - - - JAK1 0 genome.wustl.edu 37 1 65306997 65306997 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 65306997 65306997 T - DEL JAK1 ENST00000342505 human ensembl 69_37n -1 known frame_shift_del c.2580 p.K860fs 0.055 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_Kinase-like_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC ENSG00000162434 53 0 0.00 34 15 30.61 - - - JAK1 0 genome.wustl.edu 37 1 65325833 65325833 + Frame_Shift_Del DEL G G - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 65325833 65325833 G - DEL JAK1 ENST00000342505 human ensembl 69_37n -1 known frame_shift_del c.1289 p.P430fs 0.995 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC ENSG00000162434 59 0 0.00 26 7 21.21 - - - KBTBD4 0 genome.wustl.edu 37 11 47599060 47599060 + Silent SNP C C A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 47599060 47599060 C A SNP KBTBD4 ENST00000430070 human ensembl 69_37n -1 known silent c.540 p.T180 0.864 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 41 0 0.00 27 8 22.86 - - - KCNAB3 0 genome.wustl.edu 37 17 7828433 7828433 + Missense_Mutation SNP G G T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 7828433 7828433 G T SNP KCNAB3 ENST00000303790 human ensembl 69_37n -1 known missense c.607 p.P203T 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB3 HGNC ENSG00000170049 73 0 0.00 36 9 20.00 - - - KCNK1 0 genome.wustl.edu 37 1 233802463 233802463 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 233802463 233802463 G A SNP KCNK1 ENST00000366621 human ensembl 69_37n +1 known missense c.478 p.V160I 0.998 pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK1 pirsf_2pore_dom_K_chnl_TASK/TWIK,pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 87 0 0.00 111 16 12.60 - - - KIAA0528 0 genome.wustl.edu 37 12 22677460 22677460 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 22677460 22677460 G A SNP KIAA0528 ENST00000333957 human ensembl 69_37n -1 known missense c.547 p.R183C 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors KIAA0528 HGNC ENSG00000111731 68 0 0.00 78 11 12.22 - - - KIAA1109 0 genome.wustl.edu 37 4 123168476 123168476 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 4 123168476 123168476 C T SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known nonsense c.5476 p.R1826* 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 66 0 0.00 84 13 13.40 - - - KIF5B 0 genome.wustl.edu 37 10 32311826 32311826 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 32311826 32311826 T - DEL KIF5B ENST00000302418 human ensembl 69_37n -1 known frame_shift_del c.1864 p.M622fs 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 126 0 0.00 109 28 20.29 - - - KIRREL2 0 genome.wustl.edu 37 19 36357343 36357343 + Silent SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 36357343 36357343 A G SNP KIRREL2 ENST00000360202 human ensembl 69_37n +1 known silent c.2076 p.P692 0.432 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC ENSG00000126259 51 0 0.00 37 12 24.49 - - - KLK1 0 genome.wustl.edu 37 19 51323226 51323227 + Frame_Shift_Ins INS - - T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 51323226 51323227 - T INS KLK1 ENST00000301420 human ensembl 69_37n -1 known frame_shift_ins c.562_561 p.A187fs 0.935:0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK1 HGNC ENSG00000167748 63 0 0.00 38 13 25.49 - - - L1CAM 0 genome.wustl.edu 37 X 153133791 153133791 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c X 153133791 153133791 C T SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known missense c.1675 p.G559S 0.121 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 67 0 0.00 43 13 23.21 - - - LCT 0 genome.wustl.edu 37 2 136564955 136564955 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 136564955 136564955 C T SNP LCT ENST00000264162 human ensembl 69_37n -1 known missense c.3916 p.D1306N 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 44 0 0.00 18 11 35.48 - - - LOXHD1 0 genome.wustl.edu 37 18 44139503 44139503 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 18 44139503 44139503 C T SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known missense c.3124 p.V1042I 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 76 0 0.00 39 12 23.08 - - - LPHN3 0 genome.wustl.edu 37 4 62813942 62813942 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 4 62813942 62813942 C T SNP LPHN3 ENST00000507625 human ensembl 69_37n +1 known missense c.2753 p.S918F 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 71 0 0.00 52 25 32.47 - - - LRRC30 0 genome.wustl.edu 37 18 7231524 7231524 + Missense_Mutation SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 18 7231524 7231524 A G SNP LRRC30 ENST00000383467 human ensembl 69_37n +1 known missense c.388 p.T130A 0.856 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 21 0 0.00 20 10 33.33 - - - LSM11 0 genome.wustl.edu 37 5 157182096 157182096 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 157182096 157182096 C T SNP LSM11 ENST00000286307 human ensembl 69_37n +1 known missense c.907 p.R303W 0.997 superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 35 0 0.00 26 14 35.00 - - - MAN2B2 0 genome.wustl.edu 37 4 6578364 6578364 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 4 6578364 6578364 C T SNP MAN2B2 ENST00000505907 human ensembl 69_37n +1 known missense c.194 p.A65V 0.020 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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAN2B2 HGNC ENSG00000013288 28 0 0.00 8 10 55.56 - - - MAP2K4 0 genome.wustl.edu 37 17 12011109 12011109 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 12011109 12011109 T - DEL MAP2K4 ENST00000415385 human ensembl 69_37n +1 known frame_shift_del c.549 p.D184fs 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K4 HGNC ENSG00000065559 98 0 0.00 37 38 48.10 - - - MARCH5 0 genome.wustl.edu 37 10 94109244 94109244 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 94109244 94109244 C T SNP MARCH5 ENST00000358935 human ensembl 69_37n +1 known missense c.508 p.R170C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 66 0 0.00 68 23 25.27 - - - MC4R 0 genome.wustl.edu 37 18 58039219 58039219 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 18 58039219 58039219 C T SNP MC4R ENST00000299766 human ensembl 69_37n -1 known missense c.364 p.D122N 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 24 0 0.00 20 9 31.03 - - - MED25 0 genome.wustl.edu 37 19 50335233 50335233 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 50335233 50335233 C T SNP MED25 ENST00000312865 human ensembl 69_37n +1 known missense c.1271 p.T424M 0.997 pfam_Mediator_Med25 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 56 0 0.00 51 10 16.39 - - - MEF2D 0 genome.wustl.edu 37 1 156437437 156437437 + Nonstop_Mutation SNP T T C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 156437437 156437437 T C SNP MEF2D ENST00000348159 human ensembl 69_37n -1 known nonstop c.1566 p.*522W 0.995 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 43 0 0.00 40 6 13.04 - - - MKL2 0 genome.wustl.edu 37 16 14354864 14354864 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 14354864 14354864 C T SNP MKL2 ENST00000341243 human ensembl 69_37n +1 known missense c.2830 p.R944W 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 55 0 0.00 67 15 18.29 - - - MLL 0 genome.wustl.edu 37 11 118391565 118391565 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 118391565 118391565 A - DEL MLL ENST00000389506 human ensembl 69_37n +1 known frame_shift_del c.11469 p.K3825fs 0.996 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 31 0 0.00 31 8 20.51 - - - MRPS18B 0 genome.wustl.edu 37 6 30587733 30587733 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 6 30587733 30587733 C T SNP MRPS18B ENST00000259873 human ensembl 69_37n +1 known silent c.321 p.I107 1.000 superfamily_Ribosomal_S18 pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 111 0 0.00 60 35 36.84 - - - MRPS18C 0 genome.wustl.edu 37 4 84377269 84377271 + In_Frame_Del DEL GAA GAA - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 4 84377269 84377271 GAA - DEL MRPS18C ENST00000295491 human ensembl 69_37n +1 known in_frame_del c.39_41 p.K15in_frame_del 0.196:0.177:0.055 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18 - no_errors MRPS18C HGNC ENSG00000163319 43 0 0.00 31 12 27.27 - - - MSH2 0 genome.wustl.edu 37 2 47702265 47702265 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 47702265 47702265 C T SNP MSH2 ENST00000233146 human ensembl 69_37n +1 known nonsense c.1861 p.R621* 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 48 0 0.00 18 28 60.87 - - - MT1M 0 genome.wustl.edu 37 16 56667262 56667262 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 56667262 56667262 C T SNP MT1M ENST00000379818 human ensembl 69_37n +1 known silent c.39 p.C13 0.528 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1M HGNC ENSG00000205364 91 0 0.00 49 23 31.51 - - - MTG1 0 genome.wustl.edu 37 10 135233665 135233665 + Missense_Mutation SNP C C A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 135233665 135233665 C A SNP MTG1 ENST00000317502 human ensembl 69_37n +1 known missense c.1001 p.P334H 0.001 NULL pfam_GTP_binding_domain,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 Clone_based_vega_gene ENSG00000148824 16 0 0.00 17 5 22.73 - - - MUC12 0 genome.wustl.edu 37 7 100641744 100641744 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 7 100641744 100641744 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.8329 p.R2777C 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 14 0 0.00 17 6 26.09 - - - MYH3 0 genome.wustl.edu 37 17 10544483 10544483 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 10544483 10544483 C T SNP MYH3 ENST00000226209 human ensembl 69_37n -1 known missense c.2084 p.R695Q 0.988 pfam_Myosin_head_motor_dom,smart_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 MYH3 HGNC ENSG00000109063 51 0 0.00 32 15 31.91 - - - MYO18A 0 genome.wustl.edu 37 17 27420379 27420379 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 27420379 27420379 G A SNP MYO18A ENST00000354329 human ensembl 69_37n -1 known missense c.4888 p.R1630W 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 55 0 0.00 37 9 19.57 - - - NIT2 0 genome.wustl.edu 37 3 100058788 100058788 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 100058788 100058788 C T SNP NIT2 ENST00000480073 human ensembl 69_37n +1 known silent c.256 p.L86 0.826 pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 36 0 0.00 24 12 33.33 - - - NLRP2 0 genome.wustl.edu 37 19 55494672 55494672 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 55494672 55494672 C T SNP NLRP2 ENST00000448584 human ensembl 69_37n +1 known nonsense c.1606 p.Q536* 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 34 0 0.00 31 5 13.89 - - - NOS2 0 genome.wustl.edu 37 17 26107923 26107923 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 26107923 26107923 C T SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.874 p.D292N 0.982 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 23 0 0.00 14 9 39.13 - - - NUMA1 0 genome.wustl.edu 37 11 71729889 71729889 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 71729889 71729889 C T SNP NUMA1 ENST00000393695 human ensembl 69_37n -1 known missense c.722 p.R241H 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 48 0 0.00 33 21 38.89 - - - OBSCN 0 genome.wustl.edu 37 1 228497221 228497221 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 228497221 228497221 G A SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.12973 p.V4325M 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 38 0 0.00 36 6 14.29 - - - OPTN 0 genome.wustl.edu 37 10 13169759 13169759 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 13169759 13169759 C T SNP OPTN ENST00000263036 human ensembl 69_37n +1 known silent c.1257 p.D419 0.046 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 35 0 0.00 45 6 11.76 - - - OR13C4 0 genome.wustl.edu 37 9 107289169 107289169 + Missense_Mutation SNP C C A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 9 107289169 107289169 C A SNP OR13C4 ENST00000277216 human ensembl 69_37n -1 known missense c.322 p.G108W 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR13C4 HGNC ENSG00000148136 49 0 0.00 44 32 42.11 - - - OR2V1 0 genome.wustl.edu 37 5 180551593 180551594 + Frame_Shift_Ins INS - - T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 180551593 180551594 - T INS OR2V1 ENST00000329365 human ensembl 69_37n -1 known frame_shift_ins c.712_711 p.A237fs 1.000:1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2V1 HGNC ENSG00000185372 44 0 0.00 24 7 22.58 - - - OR4F6 0 genome.wustl.edu 37 15 102345983 102345983 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 15 102345983 102345983 C T SNP OR4F6 ENST00000328882 human ensembl 69_37n +1 known missense c.61 p.R21W 0.006 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 119 0 0.00 133 38 22.22 - - - PAPL 0 genome.wustl.edu 37 19 39591673 39591673 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 39591673 39591673 G A SNP PAPL ENST00000331256 human ensembl 69_37n +1 known missense c.892 p.D298N 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors AC011443.1 Clone_based_ensembl_gene ENSG00000183760 26 0 0.00 18 7 28.00 - - - PAPPA 0 genome.wustl.edu 37 9 118950410 118950410 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 9 118950410 118950410 C T SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.1393 p.R465W 0.962 smart_Notch_dom pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 28 0 0.00 18 5 20.83 - - - PCDHA4 0 genome.wustl.edu 37 5 140188906 140188906 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 140188906 140188906 G A SNP PCDHA4 ENST00000530339 human ensembl 69_37n +1 known missense c.2134 p.V712M 0.736 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 32 0 0.00 23 5 17.86 - - - PCDHGA10 0 genome.wustl.edu 37 5 140793061 140793061 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 140793061 140793061 G A SNP PCDHGA10 ENST00000398610 human ensembl 69_37n +1 known missense c.319 p.V107M 0.546 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 48 0 0.00 33 7 17.50 - - - PCDHGA4 0 genome.wustl.edu 37 5 140735488 140735488 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 140735488 140735488 G A SNP PCDHGA4 ENST00000571252 human ensembl 69_37n +1 known missense c.721 p.V241M 0.029 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 17 0 0.00 16 7 30.43 - - - PCDHGA7 0 genome.wustl.edu 37 5 140764797 140764797 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 140764797 140764797 C T SNP PCDHGA7 ENST00000518325 human ensembl 69_37n +1 known silent c.2331 p.D777 0.146 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 53 0 0.00 41 9 18.00 - - - PCLO 0 genome.wustl.edu 37 7 82595175 82595177 + In_Frame_Del DEL TCT TCT - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 7 82595175 82595177 TCT - DEL PCLO ENST00000333891 human ensembl 69_37n -1 known in_frame_del c.3929_3927 p.E1309in_frame_del 0.007:0.008:0.002 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 165 0 0.00 172 20 10.42 - - - PCNT 0 genome.wustl.edu 37 21 47786639 47786639 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 21 47786639 47786639 C T SNP PCNT ENST00000359568 human ensembl 69_37n +1 known missense c.2750 p.A917V 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 19 0 0.00 4 5 55.56 - - - PDZD2 0 genome.wustl.edu 37 5 32090758 32090758 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 32090758 32090758 G A SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.7204 p.E2402K 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 30 0 0.00 22 11 33.33 - - - PHTF1 0 genome.wustl.edu 37 1 114248545 114248546 + Frame_Shift_Ins INS - - A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 114248545 114248546 - A INS PHTF1 ENST00000369604 human ensembl 69_37n -1 known frame_shift_ins c.1638_1637 p.M547fs 0.997:1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 57 0 0.00 62 18 22.50 - - - PIK3CA 0 genome.wustl.edu 37 3 178916823 178916823 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 178916823 178916823 C T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known silent c.210 p.F70 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_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 32 18 36.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 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 57 0 0.00 25 44 63.77 - - - PLCL1 0 genome.wustl.edu 37 2 198950763 198950763 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 198950763 198950763 T - DEL PLCL1 ENST00000428675 human ensembl 69_37n +1 known frame_shift_del c.2522 p.F842fs 0.918 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCL1 HGNC ENSG00000115896 85 0 0.00 62 17 21.52 - - - PLXNA2 0 genome.wustl.edu 37 1 208227774 208227774 + Missense_Mutation SNP T T C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 208227774 208227774 T C SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known missense c.2848 p.T950A 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 36 0 0.00 32 5 13.51 - - - PNLIPRP1 0 genome.wustl.edu 37 10 118351338 118351338 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 118351338 118351338 C T SNP PNLIPRP1 ENST00000358834 human ensembl 69_37n +1 known silent c.105 p.G35 0.564 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 65 0 0.00 22 25 53.19 - - - PPP2CB 0 genome.wustl.edu 37 8 30648767 30648767 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 30648767 30648767 C T SNP PPP2CB ENST00000221138 human ensembl 69_37n -1 known missense c.803 p.R268H 1.000 smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CB HGNC ENSG00000104695 51 0 0.00 81 12 12.90 - - - PPP2R3C 0 genome.wustl.edu 37 14 35568559 35568559 + Missense_Mutation SNP G G T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 14 35568559 35568559 G T SNP PPP2R3C ENST00000261475 human ensembl 69_37n -1 known missense c.605 p.P202H 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 37 0 0.00 33 7 17.50 - - - PRPF4 0 genome.wustl.edu 37 9 116053923 116053923 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 9 116053923 116053923 C T SNP PRPF4 ENST00000374198 human ensembl 69_37n +1 known silent c.1552 p.L518 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 37 0 0.00 47 12 20.34 - - - PRR14 0 genome.wustl.edu 37 16 30664308 30664308 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 30664308 30664308 C T SNP PRR14 ENST00000300835 human ensembl 69_37n +1 known nonsense c.388 p.R130* 0.000 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 27 0 0.00 36 8 18.18 - - - PSPC1 0 genome.wustl.edu 37 13 20315754 20315754 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 13 20315754 20315754 C T SNP PSPC1 ENST00000338910 human ensembl 69_37n -1 known missense c.1003 p.E335K 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 133 0 0.00 46 92 66.67 - - - PXDN 0 genome.wustl.edu 37 2 1653368 1653368 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 1653368 1653368 G A SNP PXDN ENST00000252804 human ensembl 69_37n -1 known silent c.2184 p.R728 0.575 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 39 0 0.00 18 9 33.33 - - - RAB39B 0 genome.wustl.edu 37 X 154493388 154493388 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c X 154493388 154493388 G A SNP RAB39B ENST00000369454 human ensembl 69_37n -1 known silent c.186 p.I62 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39B HGNC ENSG00000155961 47 0 0.00 15 16 51.61 - - - RAD21 0 genome.wustl.edu 37 8 117866515 117866515 + Missense_Mutation SNP G G C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 117866515 117866515 G C SNP RAD21 ENST00000297338 human ensembl 69_37n -1 known missense c.1130 p.A377G 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 64 0 0.00 106 13 10.92 - - - RAD50 0 genome.wustl.edu 37 5 131931452 131931452 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 131931452 131931452 A - DEL RAD50 ENST00000265335 human ensembl 69_37n +1 known frame_shift_del c.2157 p.K722fs 0.997 superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC ENSG00000113522 21 0 0.00 36 6 14.29 - - - RAD54L2 0 genome.wustl.edu 37 3 51673633 51673633 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 51673633 51673633 G A SNP RAD54L2 ENST00000409535 human ensembl 69_37n +1 known missense c.2059 p.V687I 0.987 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 50 0 0.00 31 9 22.50 - - - RAPGEF2 0 genome.wustl.edu 37 4 160253744 160253744 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 4 160253744 160253744 A - DEL RAPGEF2 ENST00000264431 human ensembl 69_37n +1 known frame_shift_del c.1547 p.V518fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 51 0 0.00 55 12 17.91 - - - RARS 0 genome.wustl.edu 37 5 167946113 167946113 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 167946113 167946113 G A SNP RARS ENST00000231572 human ensembl 69_37n +1 known missense c.1901 p.R634H 0.999 pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tRNA-synth_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia - no_errors RARS HGNC ENSG00000113643 39 0 0.00 38 9 19.15 - - - RASGRP4 0 genome.wustl.edu 37 19 38901798 38901798 + Frame_Shift_Del DEL G G - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 38901798 38901798 G - DEL RASGRP4 ENST00000587738 human ensembl 69_37n -1 known frame_shift_del c.1809 p.G604fs 0.000 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 91 0 0.00 57 14 19.72 - - - RGS16 0 genome.wustl.edu 37 1 182572462 182572462 + Missense_Mutation SNP G G C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 182572462 182572462 G C SNP RGS16 ENST00000367558 human ensembl 69_37n -1 known missense c.57 p.F19L 1.000 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS16 HGNC ENSG00000143333 80 0 0.00 127 19 13.01 - - - RNF14 0 genome.wustl.edu 37 5 141359789 141359789 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 141359789 141359789 G A SNP RNF14 ENST00000347642 human ensembl 69_37n +1 known silent c.936 p.P312 0.231 pfam_Znf_C6HC,smart_Znf_C6HC pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 46 0 0.00 24 12 32.43 - - - RPGRIP1 0 genome.wustl.edu 37 14 21789487 21789487 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 14 21789487 21789487 G A SNP RPGRIP1 ENST00000206660 human ensembl 69_37n +1 known missense c.1537 p.A513T 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 68 0 0.00 69 21 23.33 - - - SAFB2 0 genome.wustl.edu 37 19 5587282 5587282 + Frame_Shift_Del DEL G G - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 5587282 5587282 G - DEL SAFB2 ENST00000252542 human ensembl 69_37n -1 known frame_shift_del c.2834 p.P945fs 0.100 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 20 0 0.00 5 2 28.57 - - - SERPING1 0 genome.wustl.edu 37 11 57373624 57373624 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 57373624 57373624 G A SNP SERPING1 ENST00000278407 human ensembl 69_37n +1 known missense c.827 p.R276Q 0.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPING1 HGNC ENSG00000149131 77 0 0.00 39 18 31.58 - - - SFMBT2 0 genome.wustl.edu 37 10 7218087 7218087 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 7218087 7218087 G A SNP SFMBT2 ENST00000361972 human ensembl 69_37n -1 known missense c.1849 p.R617W 0.998 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 68 0 0.00 67 20 22.99 - - - SGK196 0 genome.wustl.edu 37 8 42977594 42977594 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 42977594 42977594 G A SNP SGK196 ENST00000331373 human ensembl 69_37n +1 known silent c.627 p.P209 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK196 Clone_based_vega_gene ENSG00000185900 42 0 0.00 55 10 15.38 - - - SLC35G6 0 genome.wustl.edu 37 17 7385307 7385307 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 7385307 7385307 G A SNP SLC35G6 ENST00000412468 human ensembl 69_37n +1 known missense c.4 p.A2T 1.000 NULL pfam_DMT - no_errors SLC35G6 HGNC ENSG00000259224 62 0 0.00 21 10 32.26 - - - SLC5A7 0 genome.wustl.edu 37 2 108614339 108614341 + In_Frame_Del DEL TCA TCA - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 108614339 108614341 TCA - DEL SLC5A7 ENST00000264047 human ensembl 69_37n +1 known in_frame_del c.494_496 p.I167in_frame_del 1.000:0.999:1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 80 0 0.00 48 15 23.81 - - - SMARCC2 0 genome.wustl.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 56559113 56559113 G - DEL SMARCC2 ENST00000267064 human ensembl 69_37n -1 known frame_shift_del c.3128 p.P1043fs 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 10 0 0.00 4 2 33.33 - - - SNAPC1 0 genome.wustl.edu 37 14 62242911 62242911 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 14 62242911 62242911 T - DEL SNAPC1 ENST00000216294 human ensembl 69_37n +1 known frame_shift_del c.633 p.F213fs 0.961 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 48 0 0.00 56 15 21.13 - - - SPACA1 0 genome.wustl.edu 37 6 88773880 88773880 + Missense_Mutation SNP T T C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 6 88773880 88773880 T C SNP SPACA1 ENST00000237201 human ensembl 69_37n +1 known missense c.674 p.I225T 0.542 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 75 0 0.00 61 21 25.61 - - - SPEN 0 genome.wustl.edu 37 1 16260214 16260214 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 16260214 16260214 C - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.7479 p.P2495fs 0.001 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 32 0 0.00 20 5 20.00 - - - SRSF11 0 genome.wustl.edu 37 1 70701196 70701196 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 70701196 70701196 G A SNP SRSF11 ENST00000370950 human ensembl 69_37n +1 known missense c.553 p.D185N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 151 0 0.00 109 45 29.22 - - - ST6GAL2 0 genome.wustl.edu 37 2 107460277 107460277 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 107460277 107460277 G A SNP ST6GAL2 ENST00000361686 human ensembl 69_37n -1 known missense c.157 p.P53S 1.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 20 0 0.00 6 7 53.85 - - - SULF2 0 genome.wustl.edu 37 20 46318931 46318931 + Frame_Shift_Del DEL G G - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 20 46318931 46318931 G - DEL SULF2 ENST00000359930 human ensembl 69_37n -1 known frame_shift_del c.676 p.H226fs 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 115 0 0.00 65 46 39.66 - - - SVOP 0 genome.wustl.edu 37 12 109311864 109311864 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 109311864 109311864 C T SNP SVOP ENST00000299134 human ensembl 69_37n -1 known missense c.1109 p.R370H 0.996 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SVOP HGNC ENSG00000166111 104 0 0.00 103 13 11.21 - - - SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 69_37n -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 77 0 0.00 104 22 17.46 - - - SYT8 0 genome.wustl.edu 37 11 1857151 1857151 + Frame_Shift_Del DEL G G - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 1857151 1857151 G - DEL SYT8 ENST00000381968 human ensembl 69_37n +1 known frame_shift_del c.336 p.D114fs 0.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting - no_errors SYT8 HGNC ENSG00000149043 26 0 0.00 13 6 31.58 - - - TACC2 0 genome.wustl.edu 37 10 123844356 123844356 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 10 123844356 123844356 C - DEL TACC2 ENST00000334433 human ensembl 69_37n +1 known frame_shift_del c.2341 p.Q783fs 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 30 0 0.00 21 6 22.22 - - - TAF2 0 genome.wustl.edu 37 8 120774729 120774729 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 120774729 120774729 G A SNP TAF2 ENST00000523098 human ensembl 69_37n -1 known missense c.46 p.H16Y 0.398 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TAF2 HGNC ENSG00000064313 59 0 0.00 74 30 28.85 - - - TANC2 0 genome.wustl.edu 37 17 61396410 61396410 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 61396410 61396410 C T SNP TANC2 ENST00000424789 human ensembl 69_37n +1 known missense c.1312 p.R438C 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 32 0 0.00 25 11 30.56 - - - TAS2R3 0 genome.wustl.edu 37 7 141464156 141464156 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 7 141464156 141464156 T - DEL TAS2R3 ENST00000247879 human ensembl 69_37n +1 known frame_shift_del c.198 p.L68fs 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 83 0 0.00 145 25 14.71 - - - TBC1D23 0 genome.wustl.edu 37 3 100039736 100039736 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 100039736 100039736 A - DEL TBC1D23 ENST00000394144 human ensembl 69_37n +1 known frame_shift_del c.1939 p.K649fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 63 0 0.00 42 15 25.42 - - - TCEAL6 0 genome.wustl.edu 37 X 101396134 101396134 + Missense_Mutation SNP T T G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c X 101396134 101396134 T G SNP TCEAL6 ENST00000372773 human ensembl 69_37n -1 known missense c.170 p.E57A 0.101 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 135 0 0.00 83 12 12.63 - - - TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 69_37n +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 49 0 0.00 51 18 26.09 - - - TDRD10 0 genome.wustl.edu 37 1 154516982 154516982 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 154516982 154516982 C T SNP TDRD10 ENST00000368480 human ensembl 69_37n +1 known silent c.786 p.H262 0.018 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 17 0 0.00 21 6 22.22 - - - TFPI 0 genome.wustl.edu 37 2 188332651 188332651 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 188332651 188332651 C T SNP TFPI ENST00000233156 human ensembl 69_37n -1 known missense c.637 p.G213S 0.003 pirsf_Prot_inhib_I2_TFPI,superfamily_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 43 0 0.00 54 16 22.86 - - - TLR7 0 genome.wustl.edu 37 X 12906029 12906029 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c X 12906029 12906029 C T SNP TLR7 ENST00000380659 human ensembl 69_37n +1 known missense c.2402 p.T801M 0.998 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 98 0 0.00 40 16 28.57 - - - TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 69_37n -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 22 0 0.00 35 5 12.50 - - - TMEM132C 0 genome.wustl.edu 37 12 128899747 128899747 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 128899747 128899747 C T SNP TMEM132C ENST00000435159 human ensembl 69_37n +1 known missense c.556 p.R186W 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 23 0 0.00 17 6 25.00 - - - TMEM139 0 genome.wustl.edu 37 7 142983891 142983891 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 7 142983891 142983891 T - DEL TMEM139 ENST00000359333 human ensembl 69_37n +1 known frame_shift_del c.620 p.Y209fs 1.000 NULL NULL - no_errors TMEM139 HGNC ENSG00000178826 79 0 0.00 69 19 21.11 - - - TMEM63A 0 genome.wustl.edu 37 1 226041376 226041376 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 226041376 226041376 C T SNP TMEM63A ENST00000366835 human ensembl 69_37n -1 known missense c.1751 p.R584H 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 45 0 0.00 24 5 17.24 - - - TMEM97 0 genome.wustl.edu 37 17 26653807 26653807 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 26653807 26653807 A - DEL TMEM97 ENST00000226230 human ensembl 69_37n +1 known frame_shift_del c.519 p.K176fs 1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 55 0 0.00 53 17 23.94 - - - TMIGD1 0 genome.wustl.edu 37 17 28645921 28645922 + Frame_Shift_Del DEL CA CA - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 28645921 28645922 CA - DEL TMIGD1 ENST00000328886 human ensembl 69_37n -1 known frame_shift_del c.651_650 p.V217fs 0.000:0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TMIGD1 HGNC ENSG00000182271 91 0 0.00 86 18 17.31 - - - TNS1 0 genome.wustl.edu 37 2 218682600 218682600 + Missense_Mutation SNP G G T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 218682600 218682600 G T SNP TNS1 ENST00000171887 human ensembl 69_37n -1 known missense c.4143 p.S1381R 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 49 0 0.00 13 9 40.91 - - - TOX3 0 genome.wustl.edu 37 16 52484428 52484428 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 52484428 52484428 G A SNP TOX3 ENST00000219746 human ensembl 69_37n -1 known missense c.439 p.R147W 0.998 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX3 HGNC ENSG00000103460 45 0 0.00 29 11 27.50 - - - TPH2 0 genome.wustl.edu 37 12 72335393 72335393 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 72335393 72335393 C T SNP TPH2 ENST00000333850 human ensembl 69_37n +1 known silent c.135 p.D45 0.918 pirsf_Tyrosine_3-monooxygenase-like pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 43 0 0.00 50 12 19.35 - - - TRIM35 0 genome.wustl.edu 37 8 27151640 27151640 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 27151640 27151640 C T SNP TRIM35 ENST00000305364 human ensembl 69_37n -1 known missense c.719 p.R240Q 0.995 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 54 0 0.00 51 15 22.73 - - - TRIM38 0 genome.wustl.edu 37 6 25983774 25983774 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 6 25983774 25983774 G A SNP TRIM38 ENST00000349458 human ensembl 69_37n +1 known silent c.1257 p.E419 0.929 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM38 HGNC ENSG00000112343 82 0 0.00 38 12 24.00 - - - TRIM56 0 genome.wustl.edu 37 7 100732127 100732127 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 7 100732127 100732127 G A SNP TRIM56 ENST00000306085 human ensembl 69_37n +1 known missense c.1534 p.G512R 0.469 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 13 0 0.00 4 12 75.00 - - - TRIM64DP 0 genome.wustl.edu 37 11 89515104 89515104 + RNA SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 89515104 89515104 G A SNP TRIM64DP ENST00000532821 human ensembl 69_37n +1 known rna NULL NULL 0.461 - - - no_errors TRIM64DP HGNC ENSG00000254751 11 0 0.00 17 8 32.00 - - - TRMT13 0 genome.wustl.edu 37 1 100606429 100606429 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 1 100606429 100606429 G A SNP TRMT13 ENST00000370141 human ensembl 69_37n +1 known missense c.523 p.E175K 1.000 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 94 0 0.00 52 13 20.00 - - - TTC23L 0 genome.wustl.edu 37 5 34867123 34867123 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 34867123 34867123 G A SNP TTC23L ENST00000505624 human ensembl 69_37n +1 known silent c.789 p.Q263 0.998 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 41 0 0.00 21 7 25.00 - - - TXNDC11 0 genome.wustl.edu 37 16 11773171 11773172 + Frame_Shift_Del DEL CT CT - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 11773171 11773172 CT - DEL TXNDC11 ENST00000356957 human ensembl 69_37n -1 known frame_shift_del c.2838_2837 p.E946fs 0.012:0.006 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 22 0 0.00 31 5 13.89 - - - UBTD2 0 genome.wustl.edu 37 5 171638974 171638974 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 171638974 171638974 G A SNP UBTD2 ENST00000393792 human ensembl 69_37n -1 known missense c.565 p.P189S 0.996 pfam_Ubiquitin,pfam_SUMO,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,pfscan_Ubiquitin_supergroup - no_errors UBTD2 HGNC ENSG00000168246 40 0 0.00 46 18 28.12 - - - UBTF 0 genome.wustl.edu 37 17 42287046 42287046 + Missense_Mutation SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 17 42287046 42287046 A G SNP UBTF ENST00000302904 human ensembl 69_37n -1 known missense c.1682 p.M561T 1.000 superfamily_HMG_superfamily,superfamily_ARM-type_fold pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors UBTF HGNC ENSG00000108312 75 0 0.00 59 15 20.27 - - - UGT2A1 0 genome.wustl.edu 37 4 70462045 70462045 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 4 70462045 70462045 G A SNP UGT2A1 ENST00000457664 human ensembl 69_37n -1 known silent c.946 p.L316 0.997 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 78 0 0.00 62 53 46.09 - - - VAX2 0 genome.wustl.edu 37 2 71160174 71160174 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 71160174 71160174 C - DEL VAX2 ENST00000234392 human ensembl 69_37n +1 known frame_shift_del c.713 p.P240fs 0.296 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors VAX2 HGNC ENSG00000116035 21 0 0.00 3 3 50.00 - - - VRK3 0 genome.wustl.edu 37 19 50519394 50519394 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 50519394 50519394 C T SNP VRK3 ENST00000316763 human ensembl 69_37n -1 known missense c.26 p.G9D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors VRK3 HGNC ENSG00000105053 56 0 0.00 61 8 11.59 - - - WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 69_37n +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 52 0 0.00 31 5 13.51 - - - WDR66 0 genome.wustl.edu 37 12 122413586 122413586 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 12 122413586 122413586 G A SNP WDR66 ENST00000288912 human ensembl 69_37n +1 known missense c.3001 p.E1001K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 48 0 0.00 24 27 52.94 - - - WDR67 0 genome.wustl.edu 37 8 124105925 124105925 + Missense_Mutation SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 124105925 124105925 A G SNP WDR67 ENST00000287380 human ensembl 69_37n +1 known missense c.614 p.Q205R 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 83 0 0.00 162 22 11.96 - - - WRN 0 genome.wustl.edu 37 8 31001132 31001132 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 31001132 31001132 A - DEL WRN ENST00000298139 human ensembl 69_37n +1 known frame_shift_del c.3376 p.S1128fs 0.872 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 38 0 0.00 100 17 14.29 - - - XIRP1 0 genome.wustl.edu 37 3 39227618 39227618 + Missense_Mutation SNP C C A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 39227618 39227618 C A SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known missense c.3319 p.G1107C 0.157 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 31 0 0.00 10 4 28.57 - - - ZAR1 0 genome.wustl.edu 37 4 48496158 48496158 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 4 48496158 48496158 G A SNP ZAR1 ENST00000327939 human ensembl 69_37n +1 known missense c.1172 p.R391H 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors ZAR1 HGNC ENSG00000182223 59 0 0.00 41 15 26.79 - - - ZBTB16 0 genome.wustl.edu 37 11 113935219 113935219 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 11 113935219 113935219 C T SNP ZBTB16 ENST00000539918 human ensembl 69_37n +1 known missense c.86 p.A29V 1.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZBTB16 HGNC ENSG00000109906 50 0 0.00 19 13 39.39 - - - ZBTB20 0 genome.wustl.edu 37 3 114057923 114057923 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 114057923 114057923 C T SNP ZBTB20 ENST00000474710 human ensembl 69_37n -1 known missense c.2155 p.V719I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 45 0 0.00 28 8 21.62 - - - ZEB2 0 genome.wustl.edu 37 2 145147249 145147251 + In_Frame_Del DEL CTT CTT - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 145147249 145147251 CTT - DEL ZEB2 ENST00000303660 human ensembl 69_37n -1 known in_frame_del c.3414_3412 p.K1138in_frame_del 1.000:1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 80 0 0.00 58 18 23.68 - - - ZFHX3 0 genome.wustl.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 72830903 72830904 CT - DEL ZFHX3 ENST00000268489 human ensembl 69_37n -1 known frame_shift_del c.5678_5677 p.R1893fs 0.999:0.991 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 90 0 0.00 40 44 52.38 - - - ZNF223 0 genome.wustl.edu 37 19 44570961 44570961 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 19 44570961 44570961 G A SNP ZNF223 ENST00000591793 human ensembl 69_37n +1 known missense c.1310 p.R437H 0.000 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors AC084219.2 Clone_based_vega_gene ENSG00000267022 31 0 0.00 44 14 24.14 - - - ZNF469 0 genome.wustl.edu 37 16 88501554 88501556 + In_Frame_Del DEL AGG AGG - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 16 88501554 88501556 AGG - DEL ZNF469 ENST00000437464 human ensembl 69_37n +1 known in_frame_del c.7592_7594 p.E2532in_frame_del 0.000:0.000:0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 29 0 0.00 15 5 23.81 - - - ZNF512 0 genome.wustl.edu 37 2 27838044 27838044 + Missense_Mutation SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 2 27838044 27838044 A G SNP ZNF512 ENST00000355467 human ensembl 69_37n +1 known missense c.1141 p.T381A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 82 0 0.00 67 27 28.72 - - - ZNF572 0 genome.wustl.edu 37 8 125987892 125987893 + Frame_Shift_Ins INS - - A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 8 125987892 125987893 - A INS ZNF572 ENST00000319286 human ensembl 69_37n +1 known frame_shift_ins c.10_11 p.L7fs 0.001:0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 87 0 0.00 176 23 11.56 - - - ZPLD1 0 genome.wustl.edu 37 3 102187833 102187833 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ea6e540-6e2f-48a5-99e3-27a0107d07b7 0400d779-78d9-4645-add6-2a9f94d55e1c 3 102187833 102187833 G A SNP ZPLD1 ENST00000306176 human ensembl 69_37n +1 known missense c.835 p.V279I 0.953 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors ZPLD1 HGNC ENSG00000170044 37 0 0.00 15 27 64.29 - - -