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 AGAP6 414189 genome.wustl.edu 37 10 51769259 51769259 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 10 51769259 51769259 G A SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known silent c.1374 p.L458 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247016504 247016504 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 247016504 247016504 C T SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known silent c.4479 p.L1493 0.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139892455 139892455 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 139892455 139892455 C G SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.4147 p.Q1383E 1.000 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ANKIB1 54467 genome.wustl.edu 37 7 91936869 91936869 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 91936869 91936869 G C SNP ANKIB1 ENST00000265742 human ensembl 70_37 +1 known missense c.385 p.D129H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ARHGAP6 395 genome.wustl.edu 37 X 11204449 11204449 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 11204449 11204449 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ATG3 64422 genome.wustl.edu 37 3 112260686 112260686 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 112260686 112260686 C T SNP ATG3 ENST00000283290 human ensembl 70_37 -1 known missense c.439 p.E147K 1.000 pfam_Autophagy-rel_prot_3_N pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C - no_errors ATG3 HGNC ATP2B4 493 genome.wustl.edu 37 1 203696628 203696628 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 203696628 203696628 G C SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known missense c.3238 p.D1080H 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC AXIN2 8313 genome.wustl.edu 37 17 63533495 63533495 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 63533495 63533495 C T SNP AXIN2 ENST00000307078 human ensembl 70_37 -1 known silent c.1659 p.S553 0.001 NULL pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC BICD2 23299 genome.wustl.edu 37 9 95480097 95480097 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 95480097 95480097 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.2240 p.R747H 0.998 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC BMPR1B 658 genome.wustl.edu 37 4 96073848 96073848 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 96073848 96073848 C G SNP BMPR1B ENST00000440890 human ensembl 70_37 +1 known missense c.1397 p.S466C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors BMPR1B HGNC BMX 660 genome.wustl.edu 37 X 15552383 15552383 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 15552383 15552383 G C SNP BMX ENST00000342014 human ensembl 70_37 +1 known missense c.1068 p.E356D 0.999 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC BSDC1 55108 genome.wustl.edu 37 1 32842233 32842233 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 32842233 32842233 C T SNP BSDC1 ENST00000341071 human ensembl 70_37 -1 known silent c.837 p.E279 0.194 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC C12orf52 84934 genome.wustl.edu 37 12 113629176 113629176 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 113629176 113629176 G A SNP C12orf52 ENST00000436053 human ensembl 70_37 +1 known missense c.364 p.A122T 0.000 NULL NULL - no_errors C12orf52 HGNC C16orf54 283897 genome.wustl.edu 37 16 29755964 29755964 + Silent SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 29755964 29755964 C G SNP C16orf54 ENST00000329410 human ensembl 70_37 -1 known silent c.309 p.L103 0.178 NULL NULL - no_errors C16orf54 HGNC C17orf105 284067 genome.wustl.edu 37 17 41857845 41857845 + Silent SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 41857845 41857845 G T SNP C17orf105 ENST00000449302 human ensembl 70_37 +1 known silent c.15 p.L5 1.000 NULL NULL - no_errors C17orf105 HGNC C1orf106 55765 genome.wustl.edu 37 1 200880636 200880636 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 200880636 200880636 C T SNP C1orf106 ENST00000367342 human ensembl 70_37 +1 known missense c.1270 p.R424C 1.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC C1orf228 339541 genome.wustl.edu 37 1 45163829 45163829 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 45163829 45163829 G A SNP C1orf228 ENST00000458657 human ensembl 70_37 +1 known missense c.370 p.E124K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf228 HGNC C2orf73 129852 genome.wustl.edu 37 2 54587431 54587431 + Nonsense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 54587431 54587431 C G SNP C2orf73 ENST00000398634 human ensembl 70_37 +1 known nonsense c.596 p.S199* 0.031 NULL NULL - no_errors C2orf73 HGNC C9orf147 100133204 genome.wustl.edu 37 9 115248878 115248878 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 115248878 115248878 C T SNP C9orf147 ENST00000463223 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors C9orf147 HGNC CACNB4 785 genome.wustl.edu 37 2 152830219 152830219 + Missense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 152830219 152830219 G T SNP CACNB4 ENST00000360283 human ensembl 70_37 -1 known missense c.9 p.D3E 1.000 prints_VDCC_L_b3su pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB4 HGNC CCDC159 126075 genome.wustl.edu 37 19 11465310 11465310 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 11465310 11465310 C T SNP CCDC159 ENST00000458408 human ensembl 70_37 +1 known missense c.827 p.S276F 0.016 NULL NULL - no_errors CCDC159 HGNC CCDC175 729665 genome.wustl.edu 37 14 60035021 60035021 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 60035021 60035021 C T SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.433 p.E145K 0.830 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC CCNL2 81669 genome.wustl.edu 37 1 1333624 1333624 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 1333624 1333624 C G SNP CCNL2 ENST00000425598 human ensembl 70_37 -1 known missense c.493 p.E165Q 0.152 NULL NULL - no_errors CCNL2 HGNC CCSAP 126731 genome.wustl.edu 37 1 229462517 229462517 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 229462517 229462517 G A SNP CCSAP ENST00000284617 human ensembl 70_37 -1 known missense c.604 p.H202Y 1.000 NULL NULL - no_errors CCSAP HGNC CD1E 913 genome.wustl.edu 37 1 158325178 158325178 + Silent SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 158325178 158325178 G C SNP CD1E ENST00000368167 human ensembl 70_37 +1 known silent c.444 p.L148 1.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC CD8A 925 genome.wustl.edu 37 2 87016475 87016475 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 87016475 87016475 G A SNP CD8A ENST00000538832 human ensembl 70_37 -1 known missense c.719 p.S240L 0.812 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8A HGNC CDC42EP1 11135 genome.wustl.edu 37 22 37964430 37964430 + Nonsense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 22 37964430 37964430 C G SNP CDC42EP1 ENST00000249014 human ensembl 70_37 +1 known nonsense c.779 p.S260* 0.213 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC CDK5RAP3 80279 genome.wustl.edu 37 17 46048633 46048633 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 46048633 46048633 C G SNP CDK5RAP3 ENST00000583363 human ensembl 70_37 +1 known missense c.121 p.P41A 0.042 NULL NULL - no_errors CDK5RAP3 HGNC CDKN2AIP 55602 genome.wustl.edu 37 4 184367300 184367300 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 184367300 184367300 G C SNP CDKN2AIP ENST00000504169 human ensembl 70_37 +1 known missense c.463 p.E155Q 0.999 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC CERS4 79603 genome.wustl.edu 37 19 8321838 8321838 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 8321838 8321838 C G SNP CERS4 ENST00000251363 human ensembl 70_37 +1 known missense c.618 p.F206L 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS4 HGNC CES1P1 51716 genome.wustl.edu 37 16 55807361 55807361 + RNA SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 55807361 55807361 G C SNP CES1P1 ENST00000571348 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors CES1P1 HGNC CHI3L1 1116 genome.wustl.edu 37 1 203148611 203148611 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 203148611 203148611 G A SNP CHI3L1 ENST00000255409 human ensembl 70_37 -1 known missense c.1114 p.L372F 0.986 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC CLCF1 23529 genome.wustl.edu 37 11 67134998 67134998 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 67134998 67134998 G C SNP CLCF1 ENST00000312438 human ensembl 70_37 -1 known missense c.116 p.S39C 1.000 superfamily_4_helix_cytokine-like_core pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CLCF1 HGNC CMYA5 202333 genome.wustl.edu 37 5 79031279 79031279 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 79031279 79031279 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.6691 p.E2231K 0.019 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CPED1 79974 genome.wustl.edu 37 7 120691043 120691043 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 120691043 120691043 C T SNP CPED1 ENST00000495036 human ensembl 70_37 +1 known rna NULL NULL 0.984 - - - no_errors CPED1 HGNC CSMD3 114788 genome.wustl.edu 37 8 114111003 114111003 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 114111003 114111003 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.899 p.S300F 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CTDP1 9150 genome.wustl.edu 37 18 77457866 77457866 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 77457866 77457866 G A SNP CTDP1 ENST00000299543 human ensembl 70_37 +1 known missense c.499 p.E167K 0.963 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC CUX2 23316 genome.wustl.edu 37 12 111747986 111747986 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 111747986 111747986 G C SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known missense c.1400 p.S467T 0.279 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC CUX2 23316 genome.wustl.edu 37 12 111747997 111747997 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 111747997 111747997 G A SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known missense c.1411 p.D471N 0.643 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC DCAF4L2 138009 genome.wustl.edu 37 8 88885044 88885044 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 88885044 88885044 G A SNP DCAF4L2 ENST00000319675 human ensembl 70_37 -1 known missense c.1156 p.R386W 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC DCHS1 8642 genome.wustl.edu 37 11 6662746 6662748 + In_Frame_Del DEL CAG CAG - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 6662746 6662748 CAG - DEL DCHS1 ENST00000299441 human ensembl 70_37 -1 known in_frame_del c.99_97 p.L33in_frame_del 1.000:1.000:1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DDX42 11325 genome.wustl.edu 37 17 61895487 61895487 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 61895487 61895487 G A SNP DDX42 ENST00000389924 human ensembl 70_37 +1 known missense c.2546 p.S849N 0.996 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC DEFB134 613211 genome.wustl.edu 37 8 11851600 11851600 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 11851600 11851600 C G SNP DEFB134 ENST00000526438 human ensembl 70_37 -1 known missense c.90 p.K30N 0.001 NULL NULL - no_errors DEFB134 HGNC DEFB134 613211 genome.wustl.edu 37 8 11851611 11851611 + Splice_Site SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 11851611 11851611 C T SNP DEFB134 ENST00000382205 human ensembl 70_37 -1 novel splice_site c.59-1 e2-1 0.017 - - - no_errors DEFB134 HGNC DENND3 22898 genome.wustl.edu 37 8 142176354 142176354 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 142176354 142176354 C T SNP DENND3 ENST00000262585 human ensembl 70_37 +1 known missense c.1379 p.S460L 0.001 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC DMD 1756 genome.wustl.edu 37 X 31747811 31747811 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 31747811 31747811 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.7597 p.A2533T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAH11 8701 genome.wustl.edu 37 7 21639599 21639599 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 21639599 21639599 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.2862 p.E954 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DOCK11 139818 genome.wustl.edu 37 X 117676770 117676770 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 117676770 117676770 G A SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.185 p.R62Q 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DSCAM 1826 genome.wustl.edu 37 21 42080577 42080577 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 21 42080577 42080577 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.164 p.T55I 1.000 smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC DUSP10 11221 genome.wustl.edu 37 1 221875157 221875157 + RNA DEL A A - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 221875157 221875157 A - DEL DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DUSP10 HGNC DYNC1I2 1781 genome.wustl.edu 37 2 172569303 172569303 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 172569303 172569303 C T SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.362 p.S121L 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC DYNC1I2 1781 genome.wustl.edu 37 2 172569311 172569311 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 172569311 172569311 C T SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known nonsense c.370 p.Q124* 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC EBF3 253738 genome.wustl.edu 37 10 131761042 131761042 + RNA SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 10 131761042 131761042 C A SNP EBF3 ENST00000471715 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EBF3 HGNC EIF2B4 8890 genome.wustl.edu 37 2 27590059 27590059 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 27590059 27590059 C G SNP EIF2B4 ENST00000347454 human ensembl 70_37 -1 known missense c.895 p.E299Q 0.888 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC EIF2S3 1968 genome.wustl.edu 37 X 24094872 24094872 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 24094872 24094872 G A SNP EIF2S3 ENST00000253039 human ensembl 70_37 +1 known silent c.1389 p.V463 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ELOVL4 6785 genome.wustl.edu 37 6 80626468 80626468 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 80626468 80626468 G A SNP ELOVL4 ENST00000369816 human ensembl 70_37 -1 known missense c.802 p.R268W 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENPEP 2028 genome.wustl.edu 37 4 111398096 111398096 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 111398096 111398096 G A SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known missense c.526 p.E176K 0.485 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000206909 0 genome.wustl.edu 37 5 170793156 170793156 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 170793156 170793156 C T SNP ENSG00000206909 ENST00000384182 human ensembl 70_37 +1 novel rna NULL NULL 0.998 - - - no_errors SNORA70 RFAM ENSG00000225946 0 genome.wustl.edu 37 7 100608123 100608124 + RNA INS - - G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 100608123 100608124 - G INS ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.037 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000228830 0 genome.wustl.edu 37 1 234742800 234742801 + RNA DEL AT AT - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 234742800 234742801 AT - DEL ENSG00000228830 ENST00000436039 human ensembl 70_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors RP4-781K5.2 Clone_based_vega_gene ENSG00000253392 0 genome.wustl.edu 37 19 2915683 2915683 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 2915683 2915683 G A SNP ENSG00000253392 ENST00000520090 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006277.2 Clone_based_vega_gene ENSG00000256349 0 genome.wustl.edu 37 11 66297298 66297298 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 66297298 66297298 C T SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known missense c.1459 p.R487W 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000259385 0 genome.wustl.edu 37 15 48493744 48493744 + RNA SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 48493744 48493744 G C SNP ENSG00000259385 ENST00000559875 human ensembl 70_37 -1 known rna NULL NULL 0.026 - - - no_errors RP11-605F22.1 Clone_based_vega_gene ENSG00000260043 0 genome.wustl.edu 37 16 29680166 29680166 + RNA DEL A A - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 29680166 29680166 A - DEL ENSG00000260043 ENST00000561857 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-368N21.4 Clone_based_vega_gene EZR 7430 genome.wustl.edu 37 6 159190392 159190392 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 159190392 159190392 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1310 p.R437H 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC FAM86C2P 645332 genome.wustl.edu 37 11 67559472 67559472 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 67559472 67559472 G A SNP FAM86C2P ENST00000528089 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86C2P HGNC FANCB 2187 genome.wustl.edu 37 X 14863135 14863135 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 14863135 14863135 G A SNP FANCB ENST00000324138 human ensembl 70_37 -1 known silent c.1770 p.F590 0.001 NULL NULL - no_errors FANCB HGNC FBXO34 55030 genome.wustl.edu 37 14 55817459 55817459 + Frame_Shift_Del DEL G G - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 55817459 55817459 G - DEL FBXO34 ENST00000313833 human ensembl 70_37 +1 known frame_shift_del c.351 p.E118fs 1.000 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC FCRLA 84824 genome.wustl.edu 37 1 161680547 161680547 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 161680547 161680547 C T SNP FCRLA ENST00000470841 human ensembl 70_37 +1 known rna NULL NULL 0.121 - - - no_errors FCRLA HGNC FGA 2243 genome.wustl.edu 37 4 155505486 155505486 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 155505486 155505486 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2391 p.E797D 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC FRMD3 257019 genome.wustl.edu 37 9 85863159 85863159 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 85863159 85863159 C T SNP FRMD3 ENST00000304195 human ensembl 70_37 -1 known missense c.1468 p.E490K 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC FRRS1L 23732 genome.wustl.edu 37 9 111903843 111903843 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 111903843 111903843 G A SNP FRRS1L ENST00000374581 human ensembl 70_37 -1 known silent c.642 p.V214 1.000 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain - no_errors FRRS1L HGNC FZD10 11211 genome.wustl.edu 37 12 130648279 130648279 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 130648279 130648279 C T SNP FZD10 ENST00000539839 human ensembl 70_37 +1 known missense c.694 p.L232F 1.000 NULL NULL - no_errors FZD10 HGNC GABRA6 2559 genome.wustl.edu 37 5 161128681 161128681 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 161128681 161128681 C T SNP GABRA6 ENST00000274545 human ensembl 70_37 +1 known nonsense c.1264 p.R422* 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC GDPD4 220032 genome.wustl.edu 37 11 76928352 76928352 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 76928352 76928352 C T SNP GDPD4 ENST00000376217 human ensembl 70_37 -1 known silent c.1533 p.Q511 0.000 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC GGT7 2686 genome.wustl.edu 37 20 33448099 33448099 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 20 33448099 33448099 C T SNP GGT7 ENST00000336431 human ensembl 70_37 -1 novel missense c.701 p.G234E 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC GLIS2 84662 genome.wustl.edu 37 16 4387454 4387454 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 4387454 4387454 G A SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.1504 p.E502K 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GPC2 221914 genome.wustl.edu 37 7 99767912 99767912 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 99767912 99767912 G A SNP GPC2 ENST00000292377 human ensembl 70_37 -1 known missense c.1681 p.H561Y 0.034 NULL pfam_Glypican - no_errors GPC2 HGNC GPR116 221395 genome.wustl.edu 37 6 46851983 46851983 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 46851983 46851983 G C SNP GPR116 ENST00000265417 human ensembl 70_37 -1 known missense c.354 p.I118M 0.150 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC GSTCD 79807 genome.wustl.edu 37 4 106630022 106630022 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 106630022 106630022 C T SNP GSTCD ENST00000515255 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GSTCD HGNC HMGB1 3146 genome.wustl.edu 37 13 31037714 31037714 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 13 31037714 31037714 G A SNP HMGB1 ENST00000339872 human ensembl 70_37 -1 known missense c.104 p.S35L 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB1 HGNC HOXB1 3211 genome.wustl.edu 37 17 46607954 46607954 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 46607954 46607954 C T SNP HOXB1 ENST00000239174 human ensembl 70_37 -1 known missense c.313 p.E105K 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB1 HGNC IFT52 51098 genome.wustl.edu 37 20 42223455 42223455 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 20 42223455 42223455 G C SNP IFT52 ENST00000373030 human ensembl 70_37 +1 known missense c.117 p.Q39H 1.000 pfam_ABC_transp_unknown pfam_ABC_transp_unknown - no_errors IFT52 HGNC IL18RAP 8807 genome.wustl.edu 37 2 103040318 103040318 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 103040318 103040318 G C SNP IL18RAP ENST00000264260 human ensembl 70_37 +1 known missense c.118 p.E40Q 0.107 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL18RAP HGNC INHBA 3624 genome.wustl.edu 37 7 41730110 41730110 + Missense_Mutation SNP A A G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 41730110 41730110 A G SNP INHBA ENST00000242208 human ensembl 70_37 -1 known missense c.419 p.I140T 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC INTS4L1 285905 genome.wustl.edu 37 7 64646871 64646871 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 64646871 64646871 C T SNP INTS4L1 ENST00000587624 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ITM2A 9452 genome.wustl.edu 37 X 78616654 78616654 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 78616654 78616654 C G SNP ITM2A ENST00000373298 human ensembl 70_37 -1 known missense c.724 p.D242H 0.993 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2A HGNC JUN 3725 genome.wustl.edu 37 1 59248525 59248525 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 59248525 59248525 G A SNP JUN ENST00000371222 human ensembl 70_37 -1 known missense c.218 p.S73L 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC KCNA5 3741 genome.wustl.edu 37 12 5155077 5155077 + Silent SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 5155077 5155077 C G SNP KCNA5 ENST00000252321 human ensembl 70_37 +1 known silent c.1764 p.V588 1.000 prints_K_chnl_volt-dep_Kv1.5 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC KDM6A 7403 genome.wustl.edu 37 X 44938390 44938390 + Splice_Site SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 44938390 44938390 G A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known splice_site c.2960-1 e20-1 1.000 - - - no_errors KDM6A HGNC KHDRBS3 10656 genome.wustl.edu 37 8 136659337 136659337 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 136659337 136659337 C T SNP KHDRBS3 ENST00000522433 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KHDRBS3 HGNC KIAA1199 57214 genome.wustl.edu 37 15 81221397 81221397 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 81221397 81221397 G A SNP KIAA1199 ENST00000220244 human ensembl 70_37 +1 known missense c.2494 p.E832K 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC KIAA1522 57648 genome.wustl.edu 37 1 33234342 33234342 + Silent SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 33234342 33234342 G T SNP KIAA1522 ENST00000401073 human ensembl 70_37 +1 known silent c.552 p.A184 0.345 NULL NULL - no_errors KIAA1522 HGNC KIAA1683 80726 genome.wustl.edu 37 19 18380286 18380286 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 18380286 18380286 C T SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC KIAA1958 158405 genome.wustl.edu 37 9 115421911 115421911 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 115421911 115421911 G A SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known silent c.1797 p.T599 0.408 pfam_DUF3504 pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC KIF21A 55605 genome.wustl.edu 37 12 39716488 39716488 + Missense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 39716488 39716488 G T SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.3653 p.P1218H 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC KIF26A 26153 genome.wustl.edu 37 14 104641823 104641823 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 104641823 104641823 C G SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known missense c.2698 p.R900G 0.062 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC KIF7 374654 genome.wustl.edu 37 15 90152031 90152031 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 90152031 90152031 C T SNP KIF7 ENST00000558928 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KIF7 HGNC KNTC1 9735 genome.wustl.edu 37 12 123019305 123019305 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 123019305 123019305 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.224 p.R75T 1.000 superfamily_WD40_repeat_dom pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KNTC1 9735 genome.wustl.edu 37 12 123089427 123089427 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 123089427 123089427 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.5179 p.E1727K 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC L1CAM 3897 genome.wustl.edu 37 X 153136342 153136342 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 153136342 153136342 G A SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known silent c.603 p.L201 0.003 smart_Ig_sub,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 LAMA2 3908 genome.wustl.edu 37 6 129636636 129636636 + Nonsense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 129636636 129636636 G T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known nonsense c.3571 p.E1191* 0.978 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMA3 3909 genome.wustl.edu 37 18 21390425 21390425 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 21390425 21390425 G C SNP LAMA3 ENST00000313654 human ensembl 70_37 +1 known missense c.1699 p.D567H 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC LARP6 55323 genome.wustl.edu 37 15 71128664 71128664 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 71128664 71128664 C T SNP LARP6 ENST00000299213 human ensembl 70_37 -1 known silent c.381 p.V127 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC LARP6 55323 genome.wustl.edu 37 15 71128729 71128729 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 71128729 71128729 C G SNP LARP6 ENST00000299213 human ensembl 70_37 -1 known missense c.316 p.D106H 0.999 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC LARP6 55323 genome.wustl.edu 37 15 71128822 71128822 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 71128822 71128822 C T SNP LARP6 ENST00000299213 human ensembl 70_37 -1 known missense c.223 p.E75K 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC LILRA3 11026 genome.wustl.edu 37 19 54803724 54803724 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 54803724 54803724 C T SNP LILRA3 ENST00000251390 human ensembl 70_37 -1 known missense c.100 p.E34K 0.288 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC LOC100287896 100287896 genome.wustl.edu 37 11 74208839 74208839 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 74208839 74208839 G A SNP LOC100287896 ENST00000526036 human ensembl 70_37 +1 known rna NULL NULL 0.424 - - - no_errors AP001372.2 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195398061 195398061 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195398061 195398061 C T SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC069513.3 Clone_based_vega_gene LOC728888 728888 genome.wustl.edu 37 16 29393632 29393632 + Nonsense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 29393632 29393632 G C SNP LOC728888 ENST00000524087 human ensembl 70_37 -1 putative nonsense c.2621 p.S874* 0.000 NULL pfam_NPIP - no_errors 61E3.4 Uniprot_genename LRRIQ1 84125 genome.wustl.edu 37 12 85547849 85547849 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 85547849 85547849 C T SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known missense c.4697 p.S1566L 0.991 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC MASP1 5648 genome.wustl.edu 37 3 186940918 186940918 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 186940918 186940918 C T SNP MASP1 ENST00000337774 human ensembl 70_37 -1 known missense c.1806 p.M602I 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC MAST3 23031 genome.wustl.edu 37 19 18248147 18248147 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 18248147 18248147 G A SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.1984 p.E662K 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC MED25 81857 genome.wustl.edu 37 19 50339648 50339648 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 50339648 50339648 C T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known missense c.2131 p.R711W 0.001 pfam_Mediator_Med25_NR-box pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC MGAT4A 11320 genome.wustl.edu 37 2 99260398 99260398 + Silent SNP A A G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 99260398 99260398 A G SNP MGAT4A ENST00000264968 human ensembl 70_37 -1 known silent c.1008 p.P336 0.991 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4A HGNC KMT2C 58508 genome.wustl.edu 37 7 151873963 151873963 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 151873963 151873963 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.8575 p.H2859Y 0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MNS1 55329 genome.wustl.edu 37 15 56735844 56735844 + Nonsense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 56735844 56735844 G A SNP MNS1 ENST00000260453 human ensembl 70_37 -1 known nonsense c.895 p.Q299* 0.843 NULL NULL - no_errors MNS1 HGNC MRPL53 116540 genome.wustl.edu 37 2 74699582 74699582 + Silent SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 74699582 74699582 C A SNP MRPL53 ENST00000258105 human ensembl 70_37 -1 known silent c.108 p.T36 0.855 pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold - no_errors MRPL53 HGNC MUC4 4585 genome.wustl.edu 37 3 195507162 195507162 + Silent SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195507162 195507162 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.11289 p.V3763 0.050 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195509260 195509260 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195509260 195509260 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.9191 p.S3064L 0.500 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512236 195512236 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195512236 195512236 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6215 p.S2072L 0.121 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195513359 195513359 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195513359 195513359 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5092 p.P1698S 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MYBL1 4603 genome.wustl.edu 37 8 67492379 67492379 + Missense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 67492379 67492379 G T SNP MYBL1 ENST00000522677 human ensembl 70_37 -1 known missense c.1090 p.L364I 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC MYBPC2 4606 genome.wustl.edu 37 19 50961965 50961965 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 50961965 50961965 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.2460 p.S820 0.942 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 MYBPC2 HGNC MYO7A 4647 genome.wustl.edu 37 11 76919742 76919742 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 76919742 76919742 G A SNP MYO7A ENST00000409709 human ensembl 70_37 +1 known missense c.5945 p.G1982E 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC NAB2 4665 genome.wustl.edu 37 12 57483008 57483008 + RNA SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 57483008 57483008 G C SNP NAB2 ENST00000554718 human ensembl 70_37 +1 putative rna NULL NULL 0.309 - - - no_errors NAB2 HGNC NARG2 79664 genome.wustl.edu 37 15 60760317 60760317 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 60760317 60760317 C G SNP NARG2 ENST00000261520 human ensembl 70_37 -1 known missense c.351 p.K117N 0.464 NULL pfam_NARG2_C - no_errors NARG2 HGNC NDN 4692 genome.wustl.edu 37 15 23932065 23932065 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 23932065 23932065 C T SNP NDN ENST00000331837 human ensembl 70_37 -1 known silent c.300 p.Q100 1.000 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC NDUFB1 4707 genome.wustl.edu 37 14 92587952 92587952 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 92587952 92587952 C T SNP NDUFB1 ENST00000556555 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors NDUFB1 HGNC NEK1 4750 genome.wustl.edu 37 4 170510647 170510647 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 170510647 170510647 C T SNP NEK1 ENST00000507142 human ensembl 70_37 -1 known missense c.415 p.D139N 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC NF1 4763 genome.wustl.edu 37 17 29557345 29557345 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 29557345 29557345 G A SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.3058 p.E1020K 0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NIPSNAP1 8508 genome.wustl.edu 37 22 29957821 29957821 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 22 29957821 29957821 G C SNP NIPSNAP1 ENST00000216121 human ensembl 70_37 -1 known missense c.398 p.P133R 1.000 superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC NPY2R 4887 genome.wustl.edu 37 4 156136145 156136145 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 156136145 156136145 G A SNP NPY2R ENST00000329476 human ensembl 70_37 +1 known missense c.1054 p.E352K 1.000 prints_NPY2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC NUP160 23279 genome.wustl.edu 37 11 47823452 47823452 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 47823452 47823452 C T SNP NUP160 ENST00000378460 human ensembl 70_37 -1 known missense c.2806 p.E936K 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC NUPR1 26471 genome.wustl.edu 37 16 28549402 28549402 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 28549402 28549402 C G SNP NUPR1 ENST00000324873 human ensembl 70_37 -1 known missense c.187 p.E63Q 1.000 pfam_Nuclear_phosphoprot_p8_DNA-bd pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1 HGNC NUPR1 26471 genome.wustl.edu 37 16 28550171 28550171 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 28550171 28550171 C T SNP NUPR1 ENST00000324873 human ensembl 70_37 -1 known missense c.58 p.E20K 0.929 pfam_Nuclear_phosphoprot_p8_DNA-bd pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1 HGNC NYAP1 222950 genome.wustl.edu 37 7 100088718 100088718 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 100088718 100088718 G A SNP NYAP1 ENST00000423930 human ensembl 70_37 +1 known silent c.2271 p.Q757 1.000 NULL NULL - no_errors NYAP1 HGNC OCA2 4948 genome.wustl.edu 37 15 28116342 28116342 + Silent SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 28116342 28116342 C A SNP OCA2 ENST00000354638 human ensembl 70_37 -1 known silent c.2202 p.L734 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC OLFM4 10562 genome.wustl.edu 37 13 53624523 53624523 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 13 53624523 53624523 G A SNP OLFM4 ENST00000219022 human ensembl 70_37 +1 known missense c.1150 p.D384N 1.000 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC OR4X1 390113 genome.wustl.edu 37 11 48286033 48286033 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 48286033 48286033 C T SNP OR4X1 ENST00000320048 human ensembl 70_37 +1 known silent c.621 p.V207 0.935 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ORC1 4998 genome.wustl.edu 37 1 52854276 52854276 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 52854276 52854276 C T SNP ORC1 ENST00000371566 human ensembl 70_37 -1 known silent c.1221 p.E407 0.662 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC PARP14 54625 genome.wustl.edu 37 3 122432403 122432403 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 122432403 122432403 C T SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.3752 p.S1251L 0.980 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PCDH12 51294 genome.wustl.edu 37 5 141334932 141334932 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 141334932 141334932 G C SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known missense c.2485 p.Q829E 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC PCDHA1 56147 genome.wustl.edu 37 5 140167975 140167975 + Silent SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 140167975 140167975 G C SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.2100 p.L700 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC PCDHB12 56124 genome.wustl.edu 37 5 140589898 140589898 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 140589898 140589898 C T SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known silent c.1419 p.I473 0.243 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140720582 140720582 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 140720582 140720582 G A SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.2044 p.A682T 0.000 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PCYT2 5833 genome.wustl.edu 37 17 79868881 79868881 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 79868881 79868881 C T SNP PCYT2 ENST00000573401 human ensembl 70_37 -1 known missense c.100 p.E34K 0.015 NULL NULL - no_errors PCYT2 HGNC PDHB 5162 genome.wustl.edu 37 3 58415943 58415943 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 58415943 58415943 C G SNP PDHB ENST00000302746 human ensembl 70_37 -1 known missense c.612 p.L204F 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC PIEZO2 63895 genome.wustl.edu 37 18 10705483 10705483 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 10705483 10705483 G A SNP PIEZO2 ENST00000580640 human ensembl 70_37 -1 novel silent c.5586 p.F1862 0.034 NULL pfam_DUF3595 - no_errors PIEZO2 HGNC PIEZO2 63895 genome.wustl.edu 37 18 10857131 10857131 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 10857131 10857131 C T SNP PIEZO2 ENST00000582913 human ensembl 70_37 -1 known missense c.571 p.E191K 1.000 NULL NULL - no_errors PIEZO2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +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 PIKFYVE 200576 genome.wustl.edu 37 2 209218783 209218783 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 209218783 209218783 C G SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known missense c.6006 p.I2002M 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC PKD2L2 27039 genome.wustl.edu 37 5 137235254 137235254 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 137235254 137235254 C G SNP PKD2L2 ENST00000508883 human ensembl 70_37 +1 known missense c.574 p.L192V 0.009 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC PLEC 5339 genome.wustl.edu 37 8 144994213 144994213 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 144994213 144994213 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.10187 p.S3396C 0.999 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 144995001 144995001 + Silent SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 144995001 144995001 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.9399 p.L3133 0.554 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PMS1 5378 genome.wustl.edu 37 2 190682823 190682823 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 190682823 190682823 G A SNP PMS1 ENST00000441310 human ensembl 70_37 +1 known missense c.499 p.D167N 1.000 superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC PNOC 5368 genome.wustl.edu 37 8 28186791 28186791 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 28186791 28186791 C T SNP PNOC ENST00000301908 human ensembl 70_37 +1 known silent c.117 p.F39 0.893 pfam_Opioid_neupept,prints_Nociceptin pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept - no_errors PNOC HGNC PPARGC1B 133522 genome.wustl.edu 37 5 149212372 149212372 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 149212372 149212372 G A SNP PPARGC1B ENST00000309241 human ensembl 70_37 +1 known missense c.736 p.E246K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC PPM1B 5495 genome.wustl.edu 37 2 44428556 44428556 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 44428556 44428556 C T SNP PPM1B ENST00000282412 human ensembl 70_37 +1 known missense c.218 p.T73I 0.954 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1B HGNC PPP1CA 5499 genome.wustl.edu 37 11 67168188 67168188 + Silent SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 67168188 67168188 G T SNP PPP1CA ENST00000312989 human ensembl 70_37 -1 known silent c.423 p.I141 1.000 pfam_Metallo_PEstase_dom,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 PPP1CA HGNC PRDM11 56981 genome.wustl.edu 37 11 45245934 45245934 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 45245934 45245934 G A SNP PRDM11 ENST00000263765 human ensembl 70_37 +1 known silent c.1011 p.L337 1.000 NULL pfscan_SET_dom - no_errors PRDM11 HGNC PRKCDBP 112464 genome.wustl.edu 37 11 6340598 6340598 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 6340598 6340598 G C SNP PRKCDBP ENST00000303927 human ensembl 70_37 -1 known missense c.581 p.S194W 0.486 NULL NULL - no_errors PRKCDBP HGNC PRR23B 389151 genome.wustl.edu 37 3 138738973 138738973 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 138738973 138738973 C T SNP PRR23B ENST00000329447 human ensembl 70_37 -1 known silent c.531 p.G177 0.002 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC PUM2 23369 genome.wustl.edu 37 2 20453700 20453700 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 20453700 20453700 C G SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.2952 p.Q984H 1.000 superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC PVRL1 5818 genome.wustl.edu 37 11 119494210 119494210 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 119494210 119494210 G A SNP PVRL1 ENST00000531468 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors PVRL1 HGNC R3HCC1 203069 genome.wustl.edu 37 8 23153596 23153596 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 23153596 23153596 C T SNP R3HCC1 ENST00000411463 human ensembl 70_37 +1 known missense c.1429 p.P477S 0.002 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HCC1 HGNC RBL2 5934 genome.wustl.edu 37 16 53504396 53504396 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 53504396 53504396 C T SNP RBL2 ENST00000262133 human ensembl 70_37 +1 known nonsense c.2347 p.Q783* 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC RGP1 9827 genome.wustl.edu 37 9 35749263 35749263 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 35749263 35749263 G A SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known missense c.61 p.E21K 0.000 NULL pfam_Rgp1 - no_errors RGP1 HGNC RGP1 9827 genome.wustl.edu 37 9 35749382 35749382 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 35749382 35749382 G A SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known silent c.78 p.P26 0.000 NULL pfam_Rgp1 - no_errors RGP1 HGNC RGS4 5999 genome.wustl.edu 37 1 163042594 163042594 + Splice_Site SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 163042594 163042594 G C SNP RGS4 ENST00000421743 human ensembl 70_37 +1 known splice_site c.441-1 e4-1 1.000 - - - no_errors RGS4 HGNC RICTOR 253260 genome.wustl.edu 37 5 38957799 38957799 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 38957799 38957799 C T SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known silent c.2454 p.L818 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC SAMD4B 55095 genome.wustl.edu 37 19 39871358 39871358 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 39871358 39871358 C T SNP SAMD4B ENST00000314471 human ensembl 70_37 +1 known missense c.1781 p.S594L 0.982 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC SLAMF1 6504 genome.wustl.edu 37 1 160582348 160582348 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 160582348 160582348 G C SNP SLAMF1 ENST00000302035 human ensembl 70_37 -1 known missense c.887 p.S296C 0.000 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC SLC41A1 254428 genome.wustl.edu 37 1 205767910 205767910 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 205767910 205767910 C T SNP SLC41A1 ENST00000367137 human ensembl 70_37 -1 known missense c.731 p.R244H 1.000 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr - no_errors SLC41A1 HGNC SLITRK6 84189 genome.wustl.edu 37 13 86368132 86368132 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 13 86368132 86368132 C G SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.2512 p.E838Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC SNED1 25992 genome.wustl.edu 37 2 242003111 242003111 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 242003111 242003111 G C SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.2479 p.E827Q 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC SOCS3 9021 genome.wustl.edu 37 17 76354722 76354722 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 76354722 76354722 G A SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.455 p.S152F 0.020 NULL pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC SOGA2 23255 genome.wustl.edu 37 18 8831528 8831528 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 8831528 8831528 G A SNP SOGA2 ENST00000581670 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SOGA2 HGNC SOX11 6664 genome.wustl.edu 37 2 5833654 5833654 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 5833654 5833654 G A SNP SOX11 ENST00000322002 human ensembl 70_37 +1 known silent c.801 p.L267 1.000 pirsf_SOX-12/11/4a pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC SP140 11262 genome.wustl.edu 37 2 231134292 231134292 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 231134292 231134292 C T SNP SP140 ENST00000392045 human ensembl 70_37 +1 known missense c.1286 p.S429L 0.002 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC SPATA31E1 286234 genome.wustl.edu 37 9 90500620 90500620 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 90500620 90500620 C G SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known missense c.1218 p.F406L 0.009 NULL NULL - no_errors SPATA31E1 HGNC ST18 9705 genome.wustl.edu 37 8 53126766 53126766 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 53126766 53126766 C G SNP ST18 ENST00000276480 human ensembl 70_37 -1 known missense c.52 p.E18Q 0.904 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ST8SIA1 6489 genome.wustl.edu 37 12 22401946 22401946 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 22401946 22401946 C T SNP ST8SIA1 ENST00000396037 human ensembl 70_37 -1 known missense c.578 p.R193Q 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC STRN 6801 genome.wustl.edu 37 2 37082431 37082431 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 37082431 37082431 G A SNP STRN ENST00000263918 human ensembl 70_37 -1 known silent c.1902 p.F634 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC SYNE1 23345 genome.wustl.edu 37 6 152443192 152443192 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 152443192 152443192 C T SNP SYNE1 ENST00000347037 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYNE1 HGNC SYNJ2BP 55333 genome.wustl.edu 37 14 70839334 70839334 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 70839334 70839334 C T SNP SYNJ2BP ENST00000554216 human ensembl 70_37 -1 putative rna NULL NULL 0.782 - - - no_errors SYNJ2BP HGNC SYNM 23336 genome.wustl.edu 37 15 99671977 99671977 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 99671977 99671977 G C SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.3409 p.E1137Q 0.996 NULL pfam_F - no_errors SYNM HGNC SYNM 23336 genome.wustl.edu 37 15 99672256 99672256 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 99672256 99672256 G A SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.3688 p.E1230K 0.000 NULL pfam_F - no_errors SYNM HGNC SYTL1 84958 genome.wustl.edu 37 1 27677685 27677685 + RNA SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 27677685 27677685 G C SNP SYTL1 ENST00000490170 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SYTL1 HGNC TAF5L 27097 genome.wustl.edu 37 1 229730226 229730226 + Missense_Mutation SNP T T C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 229730226 229730226 T C SNP TAF5L ENST00000258281 human ensembl 70_37 -1 known missense c.1588 p.M530V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5L HGNC TCP10 6953 genome.wustl.edu 37 6 167789501 167789501 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 167789501 167789501 G A SNP TCP10 ENST00000397829 human ensembl 70_37 -1 known missense c.641 p.S214F 0.000 NULL NULL - no_errors TCP10 HGNC THBS1 7057 genome.wustl.edu 37 15 39874405 39874405 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 39874405 39874405 G C SNP THBS1 ENST00000260356 human ensembl 70_37 +1 known missense c.79 p.D27H 1.000 smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC TICRR 90381 genome.wustl.edu 37 15 90150020 90150020 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 90150020 90150020 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known nonsense c.2686 p.Q896* 0.985 NULL NULL - no_errors TICRR HGNC TMEM161B 153396 genome.wustl.edu 37 5 87521625 87521625 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 87521625 87521625 G A SNP TMEM161B ENST00000296595 human ensembl 70_37 -1 known missense c.250 p.H84Y 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC TMEM171 134285 genome.wustl.edu 37 5 72419680 72419680 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 72419680 72419680 C T SNP TMEM171 ENST00000454765 human ensembl 70_37 +1 known silent c.480 p.F160 0.997 NULL NULL - no_errors TMEM171 HGNC TMEM35 59353 genome.wustl.edu 37 X 100334062 100334062 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 100334062 100334062 G C SNP TMEM35 ENST00000372930 human ensembl 70_37 +1 known missense c.71 p.G24A 1.000 NULL NULL - no_errors TMEM35 HGNC TNFRSF6B 8771 genome.wustl.edu 37 20 62328438 62328438 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 20 62328438 62328438 C T SNP TNFRSF6B ENST00000369996 human ensembl 70_37 +1 known silent c.318 p.H106 0.001 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF6B HGNC TNXB 7148 genome.wustl.edu 37 6 32065757 32065757 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 32065757 32065757 G A SNP TNXB ENST00000375247 human ensembl 70_37 -1 known silent c.219 p.F73 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TPRG1 285386 genome.wustl.edu 37 3 189038526 189038526 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 189038526 189038526 G C SNP TPRG1 ENST00000345063 human ensembl 70_37 +1 known missense c.745 p.E249Q 1.000 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC TRANK1 9881 genome.wustl.edu 37 3 36875105 36875105 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 36875105 36875105 G A SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known missense c.5837 p.S1946L 0.852 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC TRAPPC12 51112 genome.wustl.edu 37 2 3391549 3391549 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 3391549 3391549 C T SNP TRAPPC12 ENST00000324266 human ensembl 70_37 +1 known missense c.155 p.S52L 0.999 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC TROVE2 6738 genome.wustl.edu 37 1 193054347 193054347 + RNA DEL A A - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 193054347 193054347 A - DEL TROVE2 ENST00000460715 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC TRRAP 8295 genome.wustl.edu 37 7 98497090 98497090 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 98497090 98497090 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.679 p.E227K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TTC18 118491 genome.wustl.edu 37 10 75095277 75095277 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 10 75095277 75095277 G A SNP TTC18 ENST00000310715 human ensembl 70_37 -1 known silent c.798 p.S266 0.662 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC TTN 7273 genome.wustl.edu 37 2 179445312 179445312 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 179445312 179445312 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.59090 p.A19697V 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179584091 179584091 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 179584091 179584091 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.20294 p.S6765C 0.990 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TYMP 1890 genome.wustl.edu 37 22 50966024 50966024 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 22 50966024 50966024 G A SNP TYMP ENST00000252029 human ensembl 70_37 -1 known silent c.639 p.L213 0.971 pfam_Glycosyl_Trfase_fam3,superfamily_Glycosyl_Trfase_fam3,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC UGT2A1 10941 genome.wustl.edu 37 4 70465090 70465090 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 70465090 70465090 C G SNP UGT2A1 ENST00000457664 human ensembl 70_37 -1 known missense c.765 p.E255D 0.233 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC UNC93B1 81622 genome.wustl.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 67759316 67759316 C T SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known missense c.1492 p.V498M 0.997 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC UQCRQ 27089 genome.wustl.edu 37 5 132203226 132203226 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 132203226 132203226 C T SNP UQCRQ ENST00000378665 human ensembl 70_37 +1 known silent c.201 p.F67 0.991 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 - no_errors UQCRQ HGNC USP43 124739 genome.wustl.edu 37 17 9596527 9596527 + Silent SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 9596527 9596527 C A SNP USP43 ENST00000285199 human ensembl 70_37 +1 known silent c.1437 p.L479 0.811 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC UTP14A 10813 genome.wustl.edu 37 X 129047355 129047355 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 129047355 129047355 G C SNP UTP14A ENST00000371042 human ensembl 70_37 +1 known missense c.17 p.R6T 0.814 NULL pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC VEPH1 79674 genome.wustl.edu 37 3 157206875 157206875 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 157206875 157206875 C T SNP VEPH1 ENST00000483440 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors VEPH1 HGNC VEZT 55591 genome.wustl.edu 37 12 95688056 95688056 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 95688056 95688056 G C SNP VEZT ENST00000436874 human ensembl 70_37 +1 known missense c.1531 p.E511Q 1.000 NULL NULL - no_errors VEZT HGNC VPS13A 23230 genome.wustl.edu 37 9 79931247 79931247 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 79931247 79931247 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.4788 p.M1596I 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC WDR13 64743 genome.wustl.edu 37 X 48460336 48460336 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 48460336 48460336 C T SNP WDR13 ENST00000218056 human ensembl 70_37 +1 known silent c.996 p.L332 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC WDR3 10885 genome.wustl.edu 37 1 118486093 118486093 + Missense_Mutation SNP T T C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 118486093 118486093 T C SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known missense c.1172 p.L391S 0.001 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC WDR7 23335 genome.wustl.edu 37 18 54354104 54354104 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 54354104 54354104 G C SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.616 p.E206Q 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC WIPF3 644150 genome.wustl.edu 37 7 29923612 29923612 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 29923612 29923612 C T SNP WIPF3 ENST00000242140 human ensembl 70_37 +1 known missense c.502 p.R168C 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF3 HGNC WTIP 126374 genome.wustl.edu 37 19 34991087 34991087 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 34991087 34991087 G A SNP WTIP ENST00000270288 human ensembl 70_37 +1 known silent c.1878 p.A626 0.321 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC ZBTB2 57621 genome.wustl.edu 37 6 151687696 151687696 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 151687696 151687696 C T SNP ZBTB2 ENST00000325144 human ensembl 70_37 -1 known missense c.505 p.E169K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ZFYVE19 84936 genome.wustl.edu 37 15 41106171 41106171 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 41106171 41106171 G A SNP ZFYVE19 ENST00000355341 human ensembl 70_37 +1 known missense c.1240 p.E414K 0.982 superfamily_Znf_FYVE_PHD pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ZIC4 84107 genome.wustl.edu 37 3 147106138 147106138 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 147106138 147106138 C T SNP ZIC4 ENST00000472749 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ZNF492 57615 genome.wustl.edu 37 19 22846669 22846669 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 22846669 22846669 G A SNP ZNF492 ENST00000456783 human ensembl 70_37 +1 known silent c.198 p.V66 0.000 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ZNF534 147658 genome.wustl.edu 37 19 52942558 52942558 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 52942558 52942558 C T SNP ZNF534 ENST00000332323 human ensembl 70_37 +1 known silent c.1884 p.F628 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ZNF577 84765 genome.wustl.edu 37 19 52364164 52364164 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 52364164 52364164 G A SNP ZNF577 ENST00000485702 human ensembl 70_37 -1 known rna NULL NULL 0.070 - - - no_errors ZNF577 HGNC ZNF597 146434 genome.wustl.edu 37 16 3487486 3487486 + Missense_Mutation SNP T T A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 3487486 3487486 T A SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.213 p.E71D 0.621 smart_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 - no_errors ZNF597 HGNC ZNF611 81856 genome.wustl.edu 37 19 53209325 53209325 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 53209325 53209325 G A SNP ZNF611 ENST00000319783 human ensembl 70_37 -1 known missense c.983 p.S328L 0.005 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ZNF700 90592 genome.wustl.edu 37 19 12060821 12060821 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 12060821 12060821 C T SNP ZNF700 ENST00000254321 human ensembl 70_37 +1 known missense c.1982 p.S661F 0.034 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ZNF740 283337 genome.wustl.edu 37 12 53579210 53579210 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 53579210 53579210 G C SNP ZNF740 ENST00000416904 human ensembl 70_37 +1 known missense c.199 p.D67H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF740 HGNC ZNF778 197320 genome.wustl.edu 37 16 89294118 89294118 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 89294118 89294118 G A SNP ZNF778 ENST00000433976 human ensembl 70_37 +1 known silent c.1338 p.E446 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ZP2 7783 genome.wustl.edu 37 16 21221009 21221009 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 21221009 21221009 G A SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known silent c.273 p.I91 0.002 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ZSWIM4 65249 genome.wustl.edu 37 19 13930181 13930181 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 13930181 13930181 C T SNP ZSWIM4 ENST00000254323 human ensembl 70_37 +1 known silent c.1584 p.F528 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC