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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source AATK 9625 genome.wustl.edu 37 17 79094811 79094811 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 79094811 79094811 G A SNP AATK ENST00000326724 human ensembl 70_37 -1 known silent c.2925 p.P975 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ADAM22 53616 genome.wustl.edu 37 7 87762260 87762260 + Silent SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 87762260 87762260 G C SNP ADAM22 ENST00000265727 human ensembl 70_37 +1 known silent c.1071 p.V357 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ANKRD42 338699 genome.wustl.edu 37 11 82921454 82921454 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 82921454 82921454 G T SNP ANKRD42 ENST00000393392 human ensembl 70_37 +1 known missense c.359 p.S120I 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ARHGAP28 79822 genome.wustl.edu 37 18 6912104 6912104 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 18 6912104 6912104 G A SNP ARHGAP28 ENST00000314319 human ensembl 70_37 +1 known missense c.1664 p.R555H 0.739 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ATR 545 genome.wustl.edu 37 3 142215295 142215295 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 142215295 142215295 G A SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.5806 p.H1936Y 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ATXN7L2 127002 genome.wustl.edu 37 1 110034536 110034536 + RNA SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 110034536 110034536 C T SNP ATXN7L2 ENST00000497545 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN7L2 HGNC BACH1 571 genome.wustl.edu 37 21 30701994 30701994 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 21 30701994 30701994 G A SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.1756 p.E586K 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC BAHCC1 57597 genome.wustl.edu 37 17 79410443 79410443 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 79410443 79410443 G A SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.2068 p.D690N 0.378 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC BBS12 166379 genome.wustl.edu 37 4 123664237 123664237 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 123664237 123664237 C T SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.1190 p.A397V 0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC BFSP1 631 genome.wustl.edu 37 20 17475568 17475568 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 20 17475568 17475568 G A SNP BFSP1 ENST00000377873 human ensembl 70_37 -1 known silent c.1149 p.N383 0.000 NULL pfam_F,superfamily_Prefoldin - no_errors BFSP1 HGNC BST1 683 genome.wustl.edu 37 4 15717380 15717380 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 15717380 15717380 G A SNP BST1 ENST00000265016 human ensembl 70_37 +1 known missense c.662 p.R221Q 1.000 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC C2orf43 60526 genome.wustl.edu 37 2 20901381 20901381 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 20901381 20901381 C T SNP C2orf43 ENST00000237822 human ensembl 70_37 -1 known missense c.735 p.M245I 0.986 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC C9orf153 389766 genome.wustl.edu 37 9 88842882 88842882 + Missense_Mutation SNP T T G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 9 88842882 88842882 T G SNP C9orf153 ENST00000376001 human ensembl 70_37 -1 known missense c.130 p.K44Q 0.001 NULL NULL - no_errors C9orf153 HGNC CAMK2B 816 genome.wustl.edu 37 7 44268619 44268619 + RNA SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 44268619 44268619 G C SNP CAMK2B ENST00000489429 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CAMK2B HGNC CCDC114 93233 genome.wustl.edu 37 19 48807308 48807308 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 48807308 48807308 C T SNP CCDC114 ENST00000315396 human ensembl 70_37 -1 known missense c.644 p.R215Q 1.000 NULL NULL - no_errors CCDC114 HGNC CDC45 8318 genome.wustl.edu 37 22 19470334 19470334 + Missense_Mutation SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 22 19470334 19470334 T C SNP CDC45 ENST00000437685 human ensembl 70_37 +1 known missense c.326 p.V109A 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC CDH12 1010 genome.wustl.edu 37 5 21752319 21752319 + Nonsense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 21752319 21752319 G A SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known nonsense c.1912 p.R638* 0.943 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC CEP152 22995 genome.wustl.edu 37 15 49031343 49031343 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 15 49031343 49031343 C T SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known silent c.4236 p.K1412 0.153 NULL NULL - no_errors CEP152 HGNC CHKA 1119 genome.wustl.edu 37 11 67838320 67838320 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 67838320 67838320 C T SNP CHKA ENST00000265689 human ensembl 70_37 -1 known missense c.635 p.R212Q 1.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKA HGNC CHRD 8646 genome.wustl.edu 37 3 184104671 184104671 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 184104671 184104671 G A SNP CHRD ENST00000204604 human ensembl 70_37 +1 known silent c.2235 p.P745 0.000 pfam_VWF_C,smart_VWF_C,pirsf_Chordin,pfscan_VWF_C pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC COBL 23242 genome.wustl.edu 37 7 51240194 51240194 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 51240194 51240194 C T SNP COBL ENST00000395542 human ensembl 70_37 -1 known missense c.817 p.D273N 0.010 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC COL25A1 84570 genome.wustl.edu 37 4 109895530 109895530 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 109895530 109895530 C T SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known missense c.485 p.G162E 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC CROCC 9696 genome.wustl.edu 37 1 17292290 17292290 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 17292290 17292290 C T SNP CROCC ENST00000375541 human ensembl 70_37 +1 known missense c.4478 p.P1493L 0.983 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC CST5 1473 genome.wustl.edu 37 20 23860155 23860155 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 20 23860155 23860155 G A SNP CST5 ENST00000304710 human ensembl 70_37 -1 known silent c.159 p.S53 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST5 HGNC CWF19L1 55280 genome.wustl.edu 37 10 102010025 102010025 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 10 102010025 102010025 C G SNP CWF19L1 ENST00000354105 human ensembl 70_37 -1 known missense c.688 p.G230R 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC CYP4V2 285440 genome.wustl.edu 37 4 187115763 187115763 + Silent SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 187115763 187115763 G T SNP CYP4V2 ENST00000378802 human ensembl 70_37 +1 known silent c.324 p.V108 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4V2 HGNC DENND5B 160518 genome.wustl.edu 37 12 31555446 31555446 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 12 31555446 31555446 C T SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known missense c.3040 p.E1014K 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pfscan_LipOase_LH2 pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC DNAH6 1768 genome.wustl.edu 37 2 84821167 84821167 + Silent SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 84821167 84821167 T C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known silent c.2682 p.D894 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAJC6 9829 genome.wustl.edu 37 1 65831791 65831791 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 65831791 65831791 G A SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.455 p.R152Q 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC EFCAB6 64800 genome.wustl.edu 37 22 44028049 44028049 + Missense_Mutation SNP C C A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 22 44028049 44028049 C A SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.2168 p.S723I 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC EGF 1950 genome.wustl.edu 37 4 110914420 110914420 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 110914420 110914420 C G SNP EGF ENST00000265171 human ensembl 70_37 +1 known missense c.2752 p.L918V 0.297 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000225606 0 genome.wustl.edu 37 7 12610243 12610243 + RNA SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 12610243 12610243 T C SNP ENSG00000225606 ENST00000433040 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005281.2 Clone_based_vega_gene ENSG00000259357 0 genome.wustl.edu 37 1 150938031 150938031 + RNA SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 150938031 150938031 G A SNP ENSG00000259357 ENST00000560481 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-316M1.12 Clone_based_vega_gene EVA1A 84141 genome.wustl.edu 37 2 75720424 75720424 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 75720424 75720424 C G SNP EVA1A ENST00000233712 human ensembl 70_37 -1 known missense c.397 p.E133Q 1.000 NULL NULL - no_errors EVA1A HGNC FAF1 11124 genome.wustl.edu 37 1 51204625 51204625 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 51204625 51204625 G T SNP FAF1 ENST00000371778 human ensembl 70_37 -1 known missense c.461 p.T154K 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC FAM73A 374986 genome.wustl.edu 37 1 78245381 78245381 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 78245381 78245381 C T SNP FAM73A ENST00000370791 human ensembl 70_37 +1 known missense c.41 p.A14V 0.047 NULL pfam_DUF2217 - no_errors FAM73A HGNC FBXW2 26190 genome.wustl.edu 37 9 123540630 123540630 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 9 123540630 123540630 C T SNP FBXW2 ENST00000373926 human ensembl 70_37 -1 known silent c.684 p.A228 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC LINC00982 440556 genome.wustl.edu 37 1 2984087 2984087 + RNA SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 2984087 2984087 C T SNP FLJ42875 ENST00000321336 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-163G9.1 Clone_based_vega_gene FUT11 170384 genome.wustl.edu 37 10 75535250 75535250 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 10 75535250 75535250 C G SNP FUT11 ENST00000394790 human ensembl 70_37 +1 known missense c.1408 p.H470D 0.000 pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT11 HGNC GFRA1 2674 genome.wustl.edu 37 10 117823975 117823975 + Silent SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 10 117823975 117823975 C G SNP GFRA1 ENST00000439649 human ensembl 70_37 -1 known silent c.1332 p.L444 0.996 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC GNA15 2769 genome.wustl.edu 37 19 3157769 3157769 + Missense_Mutation SNP A A G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 3157769 3157769 A G SNP GNA15 ENST00000262958 human ensembl 70_37 +1 known missense c.788 p.E263G 0.913 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q 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 GNA15 HGNC GPLD1 2822 genome.wustl.edu 37 6 24486350 24486350 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 24486350 24486350 C T SNP GPLD1 ENST00000230036 human ensembl 70_37 -1 known missense c.106 p.A36T 1.000 prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC GPX5 2880 genome.wustl.edu 37 6 28497211 28497212 + RNA INS - - A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 28497211 28497212 - A INS GPX5 ENST00000442674 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.025 - - - no_errors GPX5 HGNC GRIN2A 2903 genome.wustl.edu 37 16 9862723 9862723 + Silent SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 9862723 9862723 G C SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.2580 p.L860 0.987 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC HAPLN4 404037 genome.wustl.edu 37 19 19369456 19369456 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 19369456 19369456 G A SNP HAPLN4 ENST00000291481 human ensembl 70_37 -1 known silent c.693 p.G231 0.993 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link - no_errors HAPLN4 HGNC HLA-DRA 3122 genome.wustl.edu 37 6 32411228 32411228 + Missense_Mutation SNP C C A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 32411228 32411228 C A SNP HLA-DRA ENST00000395388 human ensembl 70_37 +1 known missense c.595 p.L199I 0.075 pfam_Ig_C1-set pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRA HGNC HTT 3064 genome.wustl.edu 37 4 3189445 3189445 + Missense_Mutation SNP A A C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 3189445 3189445 A C SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.5057 p.Q1686P 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC IDI2 91734 genome.wustl.edu 37 10 1065758 1065758 + Missense_Mutation SNP A A G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 10 1065758 1065758 A G SNP IDI2 ENST00000277517 human ensembl 70_37 -1 known missense c.383 p.I128T 0.252 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC IFT52 51098 genome.wustl.edu 37 20 42247631 42247631 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 20 42247631 42247631 C G SNP IFT52 ENST00000373030 human ensembl 70_37 +1 known missense c.664 p.Q222E 1.000 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC IGDCC4 57722 genome.wustl.edu 37 15 65676429 65676429 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 15 65676429 65676429 C T SNP IGDCC4 ENST00000352385 human ensembl 70_37 -1 novel missense c.3671 p.G1224E 0.839 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC4 HGNC IRF7 3665 genome.wustl.edu 37 11 613857 613857 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 613857 613857 C T SNP IRF7 ENST00000330243 human ensembl 70_37 -1 known missense c.814 p.A272T 0.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC IRF7 3665 genome.wustl.edu 37 11 613863 613863 + Nonsense_Mutation SNP C C A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 613863 613863 C A SNP IRF7 ENST00000330243 human ensembl 70_37 -1 known nonsense c.808 p.E270* 0.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC KIF1B 23095 genome.wustl.edu 37 1 10421080 10421080 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 10421080 10421080 G A SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.4011 p.M1337I 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF27 55582 genome.wustl.edu 37 9 86506263 86506263 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 9 86506263 86506263 C T SNP KIF27 ENST00000297814 human ensembl 70_37 -1 known missense c.1756 p.D586N 0.977 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC KRT4 3851 genome.wustl.edu 37 12 53202174 53202174 + Silent SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 12 53202174 53202174 T C SNP KRT4 ENST00000293774 human ensembl 70_37 -1 known silent c.1251 p.Q417 0.003 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC KRT6B 3854 genome.wustl.edu 37 12 52843279 52843279 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 12 52843279 52843279 C G SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.1051 p.E351Q 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC KRTAP10-1 386677 genome.wustl.edu 37 21 45959905 45959905 + Silent SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 21 45959905 45959905 C G SNP KRTAP10-1 ENST00000400375 human ensembl 70_37 -1 known silent c.129 p.L43 0.600 NULL NULL - no_errors KRTAP10-1 HGNC LARS2 23395 genome.wustl.edu 37 3 45441741 45441741 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 45441741 45441741 C T SNP LARS2 ENST00000265537 human ensembl 70_37 +1 known missense c.239 p.S80L 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC LOC100288966 100288966 genome.wustl.edu 37 GL000213.1 138882 138882 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d GL000213.1 138882 138882 G A SNP LOC100288966 ENST00000327822 human ensembl 70_37 -1 known missense c.406 p.R136C NULL NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BX072566.1 Clone_based_ensembl_gene LPL 4023 genome.wustl.edu 37 8 19809403 19809403 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 19809403 19809403 G A SNP LPL ENST00000311322 human ensembl 70_37 +1 known missense c.373 p.A125T 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipo_Lipase,tigrfam_Lipo_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase - no_errors LPL HGNC MAPK13 5603 genome.wustl.edu 37 6 36106799 36106799 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 36106799 36106799 G C SNP MAPK13 ENST00000211287 human ensembl 70_37 +1 known missense c.985 p.E329Q 1.000 superfamily_Kinase-like_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,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK13 HGNC MGAM 8972 genome.wustl.edu 37 7 141730555 141730555 + Nonsense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 141730555 141730555 G T SNP MGAM ENST00000549489 human ensembl 70_37 +1 known nonsense c.1468 p.E490* 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MMP2 4313 genome.wustl.edu 37 16 55525827 55525827 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 55525827 55525827 G C SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1295 p.R432P 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC MYH10 4628 genome.wustl.edu 37 17 8449919 8449919 + Silent SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 8449919 8449919 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known silent c.1191 p.L397 0.196 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC NAIP 4671 genome.wustl.edu 37 5 70307110 70307110 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 70307110 70307110 C G SNP NAIP ENST00000194097 human ensembl 70_37 -1 known missense c.660 p.W220C 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC NBEA 26960 genome.wustl.edu 37 13 36026233 36026233 + Silent SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 13 36026233 36026233 G T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known silent c.6309 p.T2103 0.997 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098816 178098816 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 178098816 178098816 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.229 p.D77H 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NKTR 4820 genome.wustl.edu 37 3 42680356 42680356 + Frame_Shift_Del DEL A A - TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 42680356 42680356 A - DEL NKTR ENST00000232978 human ensembl 70_37 +1 known frame_shift_del c.3160 p.N1054fs 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC NYNRIN 57523 genome.wustl.edu 37 14 24886634 24886634 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 14 24886634 24886634 C T SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known silent c.5679 p.F1893 0.360 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OBSL1 23363 genome.wustl.edu 37 2 220432185 220432185 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 220432185 220432185 G T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.1647 p.F549L 0.262 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OR8H3 390152 genome.wustl.edu 37 11 55890080 55890080 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 55890080 55890080 G A SNP OR8H3 ENST00000313472 human ensembl 70_37 +1 known missense c.232 p.V78I 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140263676 140263676 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 140263676 140263676 C T SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.1823 p.S608L 0.964 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140263677 140263677 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 140263677 140263677 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known silent c.1824 p.S608 0.009 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC PDE3A 5139 genome.wustl.edu 37 12 20766487 20766487 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 12 20766487 20766487 G C SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known missense c.1122 p.L374F 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC PHC3 80012 genome.wustl.edu 37 3 169896685 169896685 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 169896685 169896685 G A SNP PHC3 ENST00000495893 human ensembl 70_37 -1 known missense c.56 p.P19L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC PHF17 79960 genome.wustl.edu 37 4 129793030 129793030 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 129793030 129793030 G T SNP PHF17 ENST00000226319 human ensembl 70_37 +1 known missense c.2142 p.R714S 0.974 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC PHKA2 5256 genome.wustl.edu 37 X 18961874 18961874 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d X 18961874 18961874 C T SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.671 p.R224H 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC PIEZO1 9780 genome.wustl.edu 37 16 88783292 88783292 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 88783292 88783292 C G SNP PIEZO1 ENST00000327397 human ensembl 70_37 -1 known missense c.279 p.M93I 1.000 pfam_DUF3595 pfam_DUF3595 - no_errors PIEZO1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155206497 155206497 + Nonsense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 155206497 155206497 G A SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known nonsense c.2455 p.R819* 0.260 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting 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_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLS1 5357 genome.wustl.edu 37 3 142430847 142430847 + Nonstop_Mutation SNP T T G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 142430847 142430847 T G SNP PLS1 ENST00000337777 human ensembl 70_37 +1 known nonstop c.1888 p.*630E 1.000 NULL pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC PLXNB3 5365 genome.wustl.edu 37 X 153042690 153042691 + Frame_Shift_Ins INS - - G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d X 153042690 153042691 - G INS PLXNB3 ENST00000538966 human ensembl 70_37 +1 known frame_shift_ins c.5024_5025 p.V1678fs 0.998:0.849 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,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 PLXNB3 HGNC POLR2A 5430 genome.wustl.edu 37 17 7388154 7388154 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 7388154 7388154 G C SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.71 p.G24A 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC PTPN12 5782 genome.wustl.edu 37 7 77240091 77240091 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 77240091 77240091 G C SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known missense c.772 p.E258Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC PUS7 54517 genome.wustl.edu 37 7 105103125 105103125 + Missense_Mutation SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 105103125 105103125 T C SNP PUS7 ENST00000356362 human ensembl 70_37 -1 known missense c.1700 p.D567G 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC RFX7 64864 genome.wustl.edu 37 15 56435016 56435016 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 15 56435016 56435016 C T SNP RFX7 ENST00000423270 human ensembl 70_37 -1 known missense c.361 p.E121K 1.000 pfam_DNA-bd_RFX pfam_DNA-bd_RFX - no_errors RFX7 HGNC RNF111 54778 genome.wustl.edu 37 15 59387334 59387335 + RNA INS - - T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 15 59387334 59387335 - T INS RNF111 ENST00000560080 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RNF111 HGNC RPUSD3 285367 genome.wustl.edu 37 3 9885374 9885374 + RNA SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 9885374 9885374 G A SNP RPUSD3 ENST00000473522 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPUSD3 HGNC RRN3 54700 genome.wustl.edu 37 16 15188041 15188041 + Nonsense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 15188041 15188041 G T SNP RRN3 ENST00000198767 human ensembl 70_37 -1 known nonsense c.50 p.S17* 0.004 NULL pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC RRP15 51018 genome.wustl.edu 37 1 218475649 218475649 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 218475649 218475649 G A SNP RRP15 ENST00000366932 human ensembl 70_37 +1 known silent c.153 p.S51 0.000 NULL pfam_DUF1665 - no_errors RRP15 HGNC RTN4RL2 349667 genome.wustl.edu 37 11 57235468 57235468 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 57235468 57235468 C T SNP RTN4RL2 ENST00000335099 human ensembl 70_37 +1 known missense c.418 p.R140C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC SRCAP 10847 genome.wustl.edu 37 16 30733487 30733487 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 30733487 30733487 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.3586 p.R1196C 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC TARS2 80222 genome.wustl.edu 37 1 150464809 150464809 + RNA SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 150464809 150464809 C T SNP TARS2 ENST00000460794 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TARS2 HGNC TLCD2 727910 genome.wustl.edu 37 17 1611129 1611130 + Frame_Shift_Ins INS - - C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 1611129 1611130 - C INS TLCD2 ENST00000330676 human ensembl 70_37 -1 novel frame_shift_ins c.730_729 p.T243fs 0.009:0.001 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD2 HGNC TMEM120A 83862 genome.wustl.edu 37 7 75616500 75616500 + RNA DEL T T - TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 75616500 75616500 T - DEL TMEM120A ENST00000338761 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors TMEM120A HGNC TMEM235 283999 genome.wustl.edu 37 17 76227940 76227940 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 76227940 76227940 G A SNP TMEM235 ENST00000421688 human ensembl 70_37 +1 known missense c.386 p.G129E 0.008 NULL NULL - no_errors TMEM235 HGNC TONSL 4796 genome.wustl.edu 37 8 145665491 145665491 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 145665491 145665491 C T SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.1393 p.E465K 0.225 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC TRIM67 440730 genome.wustl.edu 37 1 231334860 231334860 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 231334860 231334860 G A SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known missense c.1208 p.R403H 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC TSPYL4 23270 genome.wustl.edu 37 6 116574253 116574253 + Nonsense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 116574253 116574253 G A SNP TSPYL4 ENST00000420283 human ensembl 70_37 -1 known nonsense c.919 p.R307* 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL4 HGNC TSSK4 283629 genome.wustl.edu 37 14 24676444 24676444 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 14 24676444 24676444 C T SNP TSSK4 ENST00000339917 human ensembl 70_37 +1 known missense c.563 p.P188L 0.003 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 TSSK4 HGNC U2AF1 7307 genome.wustl.edu 37 21 44527584 44527584 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 21 44527584 44527584 G A SNP U2AF1 ENST00000291552 human ensembl 70_37 -1 known silent c.21 p.S7 1.000 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC VPS37A 137492 genome.wustl.edu 37 8 17123453 17123453 + Frame_Shift_Del DEL C C - TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 17123453 17123453 C - DEL VPS37A ENST00000324849 human ensembl 70_37 +1 known frame_shift_del c.163 p.P55fs 1.000 NULL pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC XCR1 2829 genome.wustl.edu 37 3 46063368 46063368 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 46063368 46063368 G T SNP XCR1 ENST00000309285 human ensembl 70_37 -1 known missense c.72 p.N24K 0.000 prints_Chemokine_lymphotactin_XCR1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ZBTB10 65986 genome.wustl.edu 37 8 81412100 81412100 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 81412100 81412100 G T SNP ZBTB10 ENST00000426744 human ensembl 70_37 +1 known missense c.1344 p.M448I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ZFAND3 60685 genome.wustl.edu 37 6 38120554 38120554 + RNA SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 38120554 38120554 G A SNP ZFAND3 ENST00000440482 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZFAND3 HGNC ZFHX4 79776 genome.wustl.edu 37 8 77763576 77763576 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 77763576 77763576 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.4419 p.S1473 0.958 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 ZFHX4 HGNC ZFP62 643836 genome.wustl.edu 37 5 180277836 180277836 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 180277836 180277836 G T SNP ZFP62 ENST00000512132 human ensembl 70_37 -1 known missense c.560 p.S187Y 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC ZNF318 24149 genome.wustl.edu 37 6 43307899 43307899 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 43307899 43307899 C T SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known silent c.3837 p.K1279 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF730 100129543 genome.wustl.edu 37 19 23318765 23318765 + Missense_Mutation SNP A A T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 23318765 23318765 A T SNP ZNF730 ENST00000327867 human ensembl 70_37 +1 known missense c.146 p.K49M 0.017 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ZNF793 390927 genome.wustl.edu 37 19 38024296 38024296 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 38024296 38024296 C T SNP ZNF793 ENST00000445217 human ensembl 70_37 +1 known missense c.229 p.H77Y 0.953 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC