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 A1BG-AS1 503538 genome.wustl.edu 37 19 58864179 58864179 + RNA SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 58864179 58864179 G C SNP A1BG-AS1 ENST00000595302 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors A1BG-AS1 HGNC ABCC10 89845 genome.wustl.edu 37 6 43416925 43416925 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 43416925 43416925 C T SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known missense c.4186 p.L1396F 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ACTC1 70 genome.wustl.edu 37 15 35086946 35086946 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 35086946 35086946 C T SNP ACTC1 ENST00000290378 human ensembl 70_37 -1 known missense c.64 p.G22S 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTC1 HGNC ANKRD36 375248 genome.wustl.edu 37 2 97847353 97847353 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 97847353 97847353 C G SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.1754 p.P585R 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC APOF 319 genome.wustl.edu 37 12 56755762 56755762 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 56755762 56755762 G A SNP APOF ENST00000398189 human ensembl 70_37 -1 known silent c.228 p.F76 0.706 NULL NULL - no_errors APOF HGNC ARHGEF2 9181 genome.wustl.edu 37 1 155932919 155932919 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 155932919 155932919 G A SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known silent c.783 p.L261 0.997 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ARID1A 8289 genome.wustl.edu 37 1 27057981 27057982 + Frame_Shift_Ins INS - - CAACC TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 27057981 27057982 - CAACC INS ARID1A ENST00000324856 human ensembl 70_37 +1 known frame_shift_ins c.1689_1690 p.Q565fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARNT2 9915 genome.wustl.edu 37 15 80847445 80847445 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 80847445 80847445 G A SNP ARNT2 ENST00000303329 human ensembl 70_37 +1 known missense c.1129 p.E377K 1.000 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ATAD3A 55210 genome.wustl.edu 37 1 1454334 1454334 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 1454334 1454334 G A SNP ATAD3A ENST00000378755 human ensembl 70_37 +1 known missense c.622 p.E208K 1.000 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3A HGNC ATP10B 23120 genome.wustl.edu 37 5 160071212 160071212 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 160071212 160071212 C G SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.801 p.E267D 0.999 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ATP2B4 493 genome.wustl.edu 37 1 203668790 203668790 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 203668790 203668790 C T SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known silent c.594 p.L198 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ATP6V1G1 9550 genome.wustl.edu 37 9 117350073 117350073 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 117350073 117350073 C T SNP ATP6V1G1 ENST00000473413 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP6V1G1 HGNC ATP7B 540 genome.wustl.edu 37 13 52515301 52515301 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 52515301 52515301 C T SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known missense c.3472 p.G1158S 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ATXN2L 11273 genome.wustl.edu 37 16 28843580 28843580 + Nonsense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 28843580 28843580 C A SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known nonsense c.1376 p.S459* 0.990 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC AWAT1 158833 genome.wustl.edu 37 X 69458097 69458097 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 69458097 69458097 C G SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known missense c.496 p.L166V 1.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC BAK1 578 genome.wustl.edu 37 6 33543651 33543651 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 33543651 33543651 C T SNP BAK1 ENST00000360661 human ensembl 70_37 -1 known missense c.125 p.R42H 1.000 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAK1 HGNC BARD1 580 genome.wustl.edu 37 2 215645934 215645934 + Missense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 215645934 215645934 C A SNP BARD1 ENST00000260947 human ensembl 70_37 -1 known missense c.664 p.A222S 0.000 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC BCL2L1 598 genome.wustl.edu 37 20 30309776 30309776 + Silent SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 30309776 30309776 G C SNP BCL2L1 ENST00000307677 human ensembl 70_37 -1 known silent c.246 p.P82 1.000 prints_Apop_reg_BclX,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Blc2_fam,tigrfam_Bcl2/BclX - no_errors BCL2L1 HGNC BCO2 83875 genome.wustl.edu 37 11 112064657 112064657 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 112064657 112064657 C T SNP BCO2 ENST00000357685 human ensembl 70_37 +1 known silent c.573 p.L191 0.982 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13583866 13583866 + Nonsense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 13583866 13583866 G A SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known nonsense c.8587 p.Q2863* 0.995 NULL NULL - no_errors BOD1L1 HGNC BRCA1 672 genome.wustl.edu 37 17 41219655 41219655 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 41219655 41219655 C T SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.5107 p.E1703K 1.000 pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC BSG 682 genome.wustl.edu 37 19 577916 577916 + Silent SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 577916 577916 C G SNP BSG ENST00000333511 human ensembl 70_37 +1 known silent c.210 p.L70 0.987 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC BSG 682 genome.wustl.edu 37 19 579513 579513 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 579513 579513 C T SNP BSG ENST00000333511 human ensembl 70_37 +1 known silent c.429 p.F143 0.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC BSG 682 genome.wustl.edu 37 19 579536 579536 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 579536 579536 C G SNP BSG ENST00000333511 human ensembl 70_37 +1 known missense c.452 p.S151C 0.001 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC BSN 8927 genome.wustl.edu 37 3 49694404 49694404 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 49694404 49694404 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.7415 p.R2472Q 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC C21orf2 755 genome.wustl.edu 37 21 45758160 45758160 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 45758160 45758160 C T SNP C21orf2 ENST00000496321 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C21orf2 HGNC CACNA1E 777 genome.wustl.edu 37 1 181701977 181701977 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 181701977 181701977 C T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.2755 p.R919W 0.976 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CACNA2D1 781 genome.wustl.edu 37 7 81746416 81746416 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 81746416 81746416 C T SNP CACNA2D1 ENST00000356253 human ensembl 70_37 -1 known missense c.470 p.R157Q 1.000 pfam_VWA_N pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC CACNG5 27091 genome.wustl.edu 37 17 64876774 64876774 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 64876774 64876774 G A SNP CACNG5 ENST00000169565 human ensembl 70_37 +1 known silent c.384 p.T128 0.765 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC CACNG6 59285 genome.wustl.edu 37 19 54515263 54515263 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 54515263 54515263 G A SNP CACNG6 ENST00000252729 human ensembl 70_37 +1 known silent c.603 p.Q201 0.112 NULL prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC CCDC150 284992 genome.wustl.edu 37 2 197578347 197578347 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 197578347 197578347 G C SNP CCDC150 ENST00000409270 human ensembl 70_37 +1 known missense c.267 p.E89D 0.993 NULL NULL - no_errors CCDC150 HGNC CCDC160 347475 genome.wustl.edu 37 X 133378999 133378999 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 133378999 133378999 G A SNP CCDC160 ENST00000370809 human ensembl 70_37 +1 known missense c.169 p.E57K 0.955 NULL NULL - no_errors CCDC160 HGNC CDH23 64072 genome.wustl.edu 37 10 73556744 73556744 + RNA SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 73556744 73556744 C G SNP CDH23 ENST00000475158 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors CDH23 HGNC CDH23 64072 genome.wustl.edu 37 10 73558160 73558160 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 73558160 73558160 C G SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.6888 p.F2296L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CEP72 55722 genome.wustl.edu 37 5 635548 635548 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 635548 635548 G A SNP CEP72 ENST00000444221 human ensembl 70_37 +1 known missense c.574 p.G192R 0.057 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC CFH 3075 genome.wustl.edu 37 1 196694299 196694299 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 196694299 196694299 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.1745 p.R582H 0.005 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC CHD6 84181 genome.wustl.edu 37 20 40045902 40045902 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 40045902 40045902 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.6215 p.R2072Q 0.889 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC COL21A1 81578 genome.wustl.edu 37 6 56035614 56035614 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 56035614 56035614 G C SNP COL21A1 ENST00000244728 human ensembl 70_37 -1 known missense c.859 p.Q287E 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC CSTF2T 23283 genome.wustl.edu 37 10 53458331 53458331 + Nonsense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 53458331 53458331 G A SNP CSTF2T ENST00000331173 human ensembl 70_37 -1 known nonsense c.979 p.R327* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC CTNNA3 29119 genome.wustl.edu 37 10 68979606 68979606 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 68979606 68979606 C T SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.602 p.R201K 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ACKR3 57007 genome.wustl.edu 37 2 237489318 237489318 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 237489318 237489318 C T SNP CXCR7 ENST00000272928 human ensembl 70_37 +1 known silent c.210 p.I70 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt - no_errors CXCR7 HGNC CYP3A43 64816 genome.wustl.edu 37 7 99453276 99453276 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 99453276 99453276 G C SNP CYP3A43 ENST00000222382 human ensembl 70_37 +1 known missense c.733 p.V245L 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC DENND5B 160518 genome.wustl.edu 37 12 31579359 31579359 + Splice_Site SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 31579359 31579359 C T SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known splice_site c.2212-1 e10-1 1.000 - - - no_errors DENND5B HGNC DMD 1756 genome.wustl.edu 37 X 31462737 31462737 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 31462737 31462737 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.8945 p.R2982Q 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 DNAH1 25981 genome.wustl.edu 37 3 52423564 52423564 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 52423564 52423564 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.9583 p.G3195R 0.691 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAJA3 9093 genome.wustl.edu 37 16 4506663 4506663 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 4506663 4506663 C T SNP DNAJA3 ENST00000574393 human ensembl 70_37 +1 putative rna NULL NULL 0.005 - - - no_errors DNAJA3 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37617534 37617534 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 37617534 37617534 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.3256 p.E1086K 0.998 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DSP 1832 genome.wustl.edu 37 6 7555992 7555996 + Frame_Shift_Del DEL TCCAG TCCAG - TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 TCCAG TCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 7555992 7555996 TCCAG - DEL DSP ENST00000379802 human ensembl 70_37 +1 known frame_shift_del c.212_216 p.I71fs 1.000:1.000:1.000:1.000:1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DSP 1832 genome.wustl.edu 37 6 7583547 7583547 + Missense_Mutation SNP A A G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 7583547 7583547 A G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.6052 p.I2018V 0.997 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102493819 102493819 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 102493819 102493819 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.8986 p.E2996K 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC AGO2 27161 genome.wustl.edu 37 8 141542680 141542680 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 8 141542680 141542680 C T SNP EIF2C2 ENST00000220592 human ensembl 70_37 -1 known nonsense c.2306 p.W769* 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ELF5 2001 genome.wustl.edu 37 11 34533107 34533107 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 34533107 34533107 G A SNP ELF5 ENST00000312319 human ensembl 70_37 -1 known silent c.10 p.L4 0.003 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF5 HGNC ENSG00000227400 0 genome.wustl.edu 37 2 154278136 154278136 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 154278136 154278136 G A SNP ENSG00000227400 ENST00000454312 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors AC012501.2 Clone_based_vega_gene ENSG00000268864 0 genome.wustl.edu 37 19 54104546 54104546 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 54104546 54104546 C T SNP ENSG00000268864 ENST00000600193 human ensembl 70_37 -1 putative missense c.286 p.A96T 0.118 NULL NULL - no_errors CTB-167G5.5 Clone_based_vega_gene EPB41L4A 64097 genome.wustl.edu 37 5 111576451 111576451 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 111576451 111576451 G A SNP EPB41L4A ENST00000261486 human ensembl 70_37 -1 known silent c.852 p.L284 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4A HGNC EPHA3 2042 genome.wustl.edu 37 3 89259301 89259301 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 89259301 89259301 G A SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known missense c.445 p.D149N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ERBB2 2064 genome.wustl.edu 37 17 37866671 37866671 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 37866671 37866671 G C SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.838 p.E280Q 0.999 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ERBB3 2065 genome.wustl.edu 37 12 56481622 56481622 + Missense_Mutation SNP T T A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 56481622 56481622 T A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.657 p.F219L 0.997 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ERCC4 2072 genome.wustl.edu 37 16 14015888 14015888 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 14015888 14015888 G A SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known missense c.208 p.E70K 1.000 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ESPL1 9700 genome.wustl.edu 37 12 53670904 53670904 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 53670904 53670904 C G SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known missense c.1978 p.L660V 1.000 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC EXPH5 23086 genome.wustl.edu 37 11 108380989 108380989 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 108380989 108380989 G C SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known missense c.5245 p.Q1749E 0.003 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC EYS 346007 genome.wustl.edu 37 6 66200538 66200538 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 66200538 66200538 T C SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.811 p.S271G 0.012 smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC FAM154B 283726 genome.wustl.edu 37 15 82575267 82575267 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 82575267 82575267 C T SNP FAM154B ENST00000339465 human ensembl 70_37 +1 known missense c.1061 p.S354F 0.900 NULL NULL - no_errors FAM154B HGNC FAM179A 165186 genome.wustl.edu 37 2 29234362 29234362 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 29234362 29234362 C G SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.872 p.S291C 0.996 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC FAM180B 399888 genome.wustl.edu 37 11 47609937 47609937 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 47609937 47609937 G A SNP FAM180B ENST00000356737 human ensembl 70_37 +1 known missense c.626 p.R209Q 1.000 NULL NULL - no_errors FAM180B HGNC FAM208A 23272 genome.wustl.edu 37 3 56659024 56659024 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 56659024 56659024 T C SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known missense c.3967 p.K1323E 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC NUTM2F 54754 genome.wustl.edu 37 9 97081084 97081084 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 97081084 97081084 G A SNP FAM22F ENST00000253262 human ensembl 70_37 -1 known missense c.1934 p.S645F 0.001 NULL NULL - no_errors FAM22F HGNC FAM5C 339479 genome.wustl.edu 37 1 190423875 190423875 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 190423875 190423875 G A SNP FAM5C ENST00000367462 human ensembl 70_37 -1 known missense c.146 p.S49F 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC FAM90A1 55138 genome.wustl.edu 37 12 8377332 8377332 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 8377332 8377332 G A SNP FAM90A1 ENST00000307435 human ensembl 70_37 -1 known missense c.97 p.P33S 0.012 NULL NULL - no_errors FAM90A1 HGNC FBXO18 84893 genome.wustl.edu 37 10 5963484 5963484 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 5963484 5963484 C T SNP FBXO18 ENST00000379999 human ensembl 70_37 +1 known silent c.2427 p.A809 0.011 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC FCRL1 115350 genome.wustl.edu 37 1 157776889 157776889 + RNA SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 157776889 157776889 C A SNP FCRL1 ENST00000480310 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FCRL1 HGNC FGFR2 2263 genome.wustl.edu 37 10 123238709 123238710 + RNA INS - - A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 123238709 123238710 - A INS FGFR2 ENST00000478859 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors FGFR2 HGNC FRG1 2483 genome.wustl.edu 37 4 190882978 190882980 + In_Frame_Del DEL AAG AAG - TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 190882978 190882980 AAG - DEL FRG1 ENST00000226798 human ensembl 70_37 +1 known in_frame_del c.631_633 p.K212in_frame_del 1.000:1.000:1.000 pfam_FRG1 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC FSCN1 6624 genome.wustl.edu 37 7 5643567 5643567 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 5643567 5643567 C T SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known silent c.1185 p.I395 0.220 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC GALNT7 51809 genome.wustl.edu 37 4 174169343 174169343 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 174169343 174169343 C T SNP GALNT7 ENST00000265000 human ensembl 70_37 +1 known silent c.339 p.L113 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC GJC2 57165 genome.wustl.edu 37 1 228345525 228345525 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 228345525 228345525 C T SNP GJC2 ENST00000366714 human ensembl 70_37 +1 known silent c.66 p.F22 0.998 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC GLB1L3 112937 genome.wustl.edu 37 11 134151280 134151280 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 134151280 134151280 G A SNP GLB1L3 ENST00000431683 human ensembl 70_37 +1 known silent c.372 p.P124 0.004 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC GLB1L3 112937 genome.wustl.edu 37 11 134153651 134153651 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 134153651 134153651 G A SNP GLB1L3 ENST00000431683 human ensembl 70_37 +1 known missense c.548 p.R183Q 0.000 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC GNAS 2778 genome.wustl.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 57484421 57484421 G A SNP GNAS ENST00000354359 human ensembl 70_37 +1 known missense c.605 p.R202H 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC GPR111 222611 genome.wustl.edu 37 6 47649467 47649467 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 47649467 47649467 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known missense c.1172 p.R391K 0.005 pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC GPR112 139378 genome.wustl.edu 37 X 135480160 135480160 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 135480160 135480160 C G SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.8305 p.H2769D 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC GPR124 25960 genome.wustl.edu 37 8 37697140 37697140 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 8 37697140 37697140 G A SNP GPR124 ENST00000412232 human ensembl 70_37 +1 known silent c.2511 p.A837 0.459 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC GPR153 387509 genome.wustl.edu 37 1 6313808 6313808 + Silent SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 6313808 6313808 G T SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known silent c.756 p.I252 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC GPR153 387509 genome.wustl.edu 37 1 6314904 6314904 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 6314904 6314904 G A SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known missense c.62 p.S21F 1.000 prints_GPCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC GPR64 10149 genome.wustl.edu 37 X 19046342 19046342 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 19046342 19046342 C T SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC GPS1 2873 genome.wustl.edu 37 17 80014956 80014956 + Nonsense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 80014956 80014956 G T SNP GPS1 ENST00000355130 human ensembl 70_37 +1 known nonsense c.1537 p.E513* 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC GRIN2C 2905 genome.wustl.edu 37 17 72842272 72842272 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 72842272 72842272 G A SNP GRIN2C ENST00000293190 human ensembl 70_37 -1 known silent c.2283 p.I761 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC GSTCD 79807 genome.wustl.edu 37 4 106640343 106640343 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 106640343 106640343 G A SNP GSTCD ENST00000360505 human ensembl 70_37 +1 known missense c.553 p.E185K 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC GTF3C1 2975 genome.wustl.edu 37 16 27561137 27561137 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 27561137 27561137 C G SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.75 p.W25C 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC GUCY1B3 2983 genome.wustl.edu 37 4 156723668 156723668 + Silent SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 156723668 156723668 C G SNP GUCY1B3 ENST00000264424 human ensembl 70_37 +1 known silent c.1350 p.L450 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC HAUS2 55142 genome.wustl.edu 37 15 42853584 42853584 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 42853584 42853584 G A SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.373 p.E125K 1.000 NULL NULL - no_errors HAUS2 HGNC HMCN1 83872 genome.wustl.edu 37 1 185976331 185976331 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 185976331 185976331 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.4547 p.R1516Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HPN 3249 genome.wustl.edu 37 19 35557160 35557160 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 35557160 35557160 C T SNP HPN ENST00000262626 human ensembl 70_37 +1 known missense c.1223 p.S408F 1.000 NULL pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPN HGNC HSPA4L 22824 genome.wustl.edu 37 4 128726255 128726255 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 128726255 128726255 T C SNP HSPA4L ENST00000439123 human ensembl 70_37 +1 known missense c.1106 p.I369T 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC IAPP 3375 genome.wustl.edu 37 12 21531188 21531188 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 21531188 21531188 G A SNP IAPP ENST00000240652 human ensembl 70_37 +1 known missense c.98 p.R33Q 0.966 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep - no_errors IAPP HGNC IDS 3423 genome.wustl.edu 37 X 148584733 148584733 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 148584733 148584733 C T SNP IDS ENST00000428056 human ensembl 70_37 -1 known missense c.527 p.R176Q 0.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC IFIH1 64135 genome.wustl.edu 37 2 163128822 163128822 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 163128822 163128822 C G SNP IFIH1 ENST00000263642 human ensembl 70_37 -1 known missense c.2530 p.E844Q 1.000 pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ITPR1 3708 genome.wustl.edu 37 3 4712601 4712601 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 4712601 4712601 G C SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.2150 p.S717T 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC KDM2A 22992 genome.wustl.edu 37 11 66995615 66995615 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 66995615 66995615 G C SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.1065 p.Q355H 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KDM2A 22992 genome.wustl.edu 37 11 66999107 66999107 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 66999107 66999107 G C SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.1155 p.L385F 0.999 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KIF23 9493 genome.wustl.edu 37 15 69714019 69714019 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 69714019 69714019 C T SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.244 p.H82Y 0.381 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC KIR2DL1 3802 genome.wustl.edu 37 19 55294399 55294399 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 55294399 55294399 G A SNP KIR2DL1 ENST00000336077 human ensembl 70_37 +1 known silent c.741 p.L247 0.050 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC KLF15 28999 genome.wustl.edu 37 3 126071330 126071330 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 126071330 126071330 C T SNP KLF15 ENST00000296233 human ensembl 70_37 -1 known missense c.436 p.E146K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC KLHL10 317719 genome.wustl.edu 37 17 39994305 39994305 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 39994305 39994305 G A SNP KLHL10 ENST00000293303 human ensembl 70_37 +1 known missense c.121 p.V41M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC KLHL29 114818 genome.wustl.edu 37 2 23785231 23785231 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 23785231 23785231 G A SNP KLHL29 ENST00000486442 human ensembl 70_37 +1 known silent c.165 p.P55 0.072 NULL pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC KLHL6 89857 genome.wustl.edu 37 3 183209823 183209823 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 183209823 183209823 C T SNP KLHL6 ENST00000341319 human ensembl 70_37 -1 known silent c.1758 p.L586 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC KRTAP4-12 83755 genome.wustl.edu 37 17 39279950 39279950 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 39279950 39279950 C T SNP KRTAP4-12 ENST00000394014 human ensembl 70_37 -1 known missense c.425 p.R142H 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC LCP2 3937 genome.wustl.edu 37 5 169724598 169724598 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 169724598 169724598 C T SNP LCP2 ENST00000046794 human ensembl 70_37 -1 known silent c.18 p.V6 0.096 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC LIPG 9388 genome.wustl.edu 37 18 47101933 47101933 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 18 47101933 47101933 G A SNP LIPG ENST00000261292 human ensembl 70_37 +1 known missense c.766 p.D256N 0.956 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC LOC339524 339524 genome.wustl.edu 37 1 87598335 87598336 + RNA INS - - C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 87598335 87598336 - C INS LOC339524 ENST00000467438 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP5-1052I5.1 Clone_based_vega_gene LOC729461 729461 genome.wustl.edu 37 22 20640381 20640381 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 22 20640381 20640381 G A SNP LOC729461 ENST00000577456 human ensembl 70_37 -1 known rna NULL NULL 0.808 - - - no_errors AC011718.2 Clone_based_vega_gene LRP1B 53353 genome.wustl.edu 37 2 141643716 141643716 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 141643716 141643716 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.3955 p.E1319K 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC MAGED2 10916 genome.wustl.edu 37 X 54841756 54841756 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 54841756 54841756 G A SNP MAGED2 ENST00000218439 human ensembl 70_37 +1 known missense c.1462 p.E488K 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC MCOLN3 55283 genome.wustl.edu 37 1 85510918 85510918 + Silent SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 85510918 85510918 G C SNP MCOLN3 ENST00000302814 human ensembl 70_37 -1 known silent c.126 p.L42 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC MCOLN3 55283 genome.wustl.edu 37 1 85510984 85510984 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 85510984 85510984 G A SNP MCOLN3 ENST00000302814 human ensembl 70_37 -1 known silent c.60 p.C20 0.267 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151884356 151884356 + Nonsense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 151884356 151884356 C A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.4999 p.E1667* 1.000 superfamily_HMG_superfamily,smart_HMG_superfamily 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 56726478 56726478 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 56726478 56726478 C G SNP MNS1 ENST00000260453 human ensembl 70_37 -1 known missense c.1127 p.R376T 0.873 NULL NULL - no_errors MNS1 HGNC MRPL4 51073 genome.wustl.edu 37 19 10363049 10363049 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 10363049 10363049 C G SNP MRPL4 ENST00000588502 human ensembl 70_37 +1 putative missense c.31 p.L11V 0.012 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC MUC20 200958 genome.wustl.edu 37 3 195453054 195453054 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195453054 195453054 G A SNP MUC20 ENST00000447234 human ensembl 70_37 +1 known missense c.1580 p.R527K 0.000 NULL NULL - no_errors MUC20 HGNC MUC4 4585 genome.wustl.edu 37 3 195506492 195506492 + Missense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195506492 195506492 C A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11959 p.V3987F 0.003 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 195506647 195506647 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195506647 195506647 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11804 p.T3935I 0.343 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 195511058 195511058 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195511058 195511058 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7393 p.L2465V 0.055 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 195513628 195513628 + Nonsense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195513628 195513628 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.4823 p.S1608* 0.004 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 195517250 195517250 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195517250 195517250 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.1201 p.D401N 0.001 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 MYO3B 140469 genome.wustl.edu 37 2 171262054 171262054 + Splice_Site SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 171262054 171262054 G A SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known splice_site c.2459-1 e21-1 1.000 - - - no_errors MYO3B HGNC MYO7A 4647 genome.wustl.edu 37 11 76868334 76868334 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 76868334 76868334 G A SNP MYO7A ENST00000409709 human ensembl 70_37 +1 known missense c.745 p.E249K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom 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 NARS2 79731 genome.wustl.edu 37 11 78177032 78177032 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 78177032 78177032 C G SNP NARS2 ENST00000281038 human ensembl 70_37 -1 known missense c.1054 p.E352Q 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb - no_errors NARS2 HGNC NAT6 24142 genome.wustl.edu 37 3 50334747 50334747 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 50334747 50334747 C T SNP NAT6 ENST00000354862 human ensembl 70_37 -1 known missense c.214 p.E72K 0.946 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT6 HGNC NCAM1 4684 genome.wustl.edu 37 11 113105875 113105875 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 113105875 113105875 C T SNP NCAM1 ENST00000316851 human ensembl 70_37 +1 known missense c.1784 p.T595M 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM1 HGNC NHLRC3 387921 genome.wustl.edu 37 13 39613751 39613751 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 39613751 39613751 C T SNP NHLRC3 ENST00000379600 human ensembl 70_37 +1 known silent c.288 p.F96 0.991 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC NLRP8 126205 genome.wustl.edu 37 19 56490823 56490823 + Missense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 56490823 56490823 C A SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known missense c.2940 p.N980K 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC NRXN3 9369 genome.wustl.edu 37 14 78709692 78709692 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 78709692 78709692 C T SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known nonsense c.256 p.Q86* 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC OLFML1 283298 genome.wustl.edu 37 11 7531307 7531307 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 7531307 7531307 G A SNP OLFML1 ENST00000329293 human ensembl 70_37 +1 known missense c.1097 p.R366K 0.976 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML1 HGNC OSBPL2 9885 genome.wustl.edu 37 20 60854321 60854321 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 60854321 60854321 C T SNP OSBPL2 ENST00000313733 human ensembl 70_37 +1 known silent c.600 p.I200 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC OTOG 340990 genome.wustl.edu 37 11 17633864 17633864 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 17633864 17633864 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known silent c.6315 p.L2105 0.960 smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC PCDHB5 26167 genome.wustl.edu 37 5 140516882 140516882 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 140516882 140516882 G A SNP PCDHB5 ENST00000231134 human ensembl 70_37 +1 known silent c.1866 p.E622 1.000 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 PCDHB5 HGNC PCDHGA5 56110 genome.wustl.edu 37 5 140744136 140744136 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 140744136 140744136 G A SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known missense c.239 p.R80Q 0.102 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC PDHA1 5160 genome.wustl.edu 37 X 19371082 19371082 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 19371082 19371082 G A SNP PDHA1 ENST00000479146 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PDHA1 HGNC PHF20 51230 genome.wustl.edu 37 20 34505430 34505430 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 34505430 34505430 C G SNP PHF20 ENST00000374012 human ensembl 70_37 +1 known missense c.1850 p.S617C 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 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 PLA2G6 8398 genome.wustl.edu 37 22 38559436 38559436 + RNA SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 22 38559436 38559436 G C SNP PLA2G6 ENST00000445591 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PLA2G6 HGNC PLA2G6 8398 genome.wustl.edu 37 22 38559594 38559594 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 22 38559594 38559594 G A SNP PLA2G6 ENST00000445591 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors PLA2G6 HGNC PLD1 5337 genome.wustl.edu 37 3 171377057 171377057 + Missense_Mutation SNP A A T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 171377057 171377057 A T SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known missense c.2375 p.V792D 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153698913 153698913 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 153698913 153698913 G T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.5115 p.Q1705H 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PLXNB1 5364 genome.wustl.edu 37 3 48465618 48465618 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 48465618 48465618 C T SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.403 p.E135K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94543449 94543449 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 94543449 94543449 C T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known silent c.702 p.F234 0.997 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC PMS2P4 5382 genome.wustl.edu 37 7 66760730 66760730 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 66760730 66760730 C T SNP PMS2P4 ENST00000414507 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PMS2P4 HGNC POLR1D 51082 genome.wustl.edu 37 13 28196021 28196021 + RNA SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 28196021 28196021 C G SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC POLR1D 51082 genome.wustl.edu 37 13 28196057 28196057 + RNA SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 28196057 28196057 C G SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC POU4F2 5458 genome.wustl.edu 37 4 147561325 147561325 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 147561325 147561325 G A SNP POU4F2 ENST00000281321 human ensembl 70_37 +1 known missense c.595 p.G199R 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC PPP1R14A 94274 genome.wustl.edu 37 19 38742017 38742017 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 38742017 38742017 G T SNP PPP1R14A ENST00000301242 human ensembl 70_37 -1 known missense c.385 p.P129T 1.000 pfam_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14A HGNC PRDM16 63976 genome.wustl.edu 37 1 3102760 3102760 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 3102760 3102760 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known missense c.109 p.E37K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC PRPF6 24148 genome.wustl.edu 37 20 62632587 62632587 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 62632587 62632587 G A SNP PRPF6 ENST00000266079 human ensembl 70_37 +1 known missense c.1181 p.R394Q 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC PRUNE2 158471 genome.wustl.edu 37 9 79320705 79320705 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 79320705 79320705 G C SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known missense c.5408 p.S1803C 0.590 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC PTCD1 26024 genome.wustl.edu 37 7 99032588 99032588 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 99032588 99032588 G C SNP PTCD1 ENST00000555673 human ensembl 70_37 -1 known missense c.425 p.S142C 0.998 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors PTCD1 HGNC PTPRD 5789 genome.wustl.edu 37 9 8319890 8319890 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 8319890 8319890 C G SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.5611 p.D1871H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC RAD52 5893 genome.wustl.edu 37 12 1022548 1022548 + RNA SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 1022548 1022548 G C SNP RAD52 ENST00000535376 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAD52 HGNC RANBP9 10048 genome.wustl.edu 37 6 13644799 13644799 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 13644799 13644799 C G SNP RANBP9 ENST00000011619 human ensembl 70_37 -1 known missense c.1090 p.E364Q 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC RBP3 5949 genome.wustl.edu 37 10 48388541 48388541 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 48388541 48388541 C T SNP RBP3 ENST00000224600 human ensembl 70_37 -1 known silent c.2337 p.V779 0.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC RIF1 55183 genome.wustl.edu 37 2 152321064 152321064 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 152321064 152321064 G C SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.5030 p.R1677T 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC RIMS1 22999 genome.wustl.edu 37 6 72926938 72926938 + Nonsense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 72926938 72926938 C G SNP RIMS1 ENST00000517827 human ensembl 70_37 +1 putative nonsense c.47 p.S16* 0.995 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors RIMS1 HGNC RIPK2 8767 genome.wustl.edu 37 8 90792331 90792331 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 8 90792331 90792331 G A SNP RIPK2 ENST00000220751 human ensembl 70_37 +1 known silent c.882 p.L294 0.998 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK2 HGNC RMI1 80010 genome.wustl.edu 37 9 86617223 86617223 + Missense_Mutation SNP A A G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 86617223 86617223 A G SNP RMI1 ENST00000325875 human ensembl 70_37 +1 known missense c.1322 p.K441R 0.019 NULL pfam_DUF1767 - no_errors RMI1 HGNC ROBO3 64221 genome.wustl.edu 37 11 124739926 124739926 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 124739926 124739926 G A SNP ROBO3 ENST00000397801 human ensembl 70_37 +1 known missense c.728 p.G243E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC RPL13P5 283345 genome.wustl.edu 37 12 6993274 6993274 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 6993274 6993274 C T SNP RPL13P5 ENST00000412023 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RPL13P5 HGNC RPL4 6124 genome.wustl.edu 37 15 66793822 66793822 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 66793822 66793822 C G SNP RPL4 ENST00000307961 human ensembl 70_37 -1 known missense c.567 p.M189I 1.000 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC RPS4X 6191 genome.wustl.edu 37 X 71495421 71495421 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 71495421 71495421 C T SNP RPS4X ENST00000316084 human ensembl 70_37 -1 known missense c.235 p.D79N 1.000 pfam_S4_RNA-bd,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC RUNX2 860 genome.wustl.edu 37 6 45399640 45399640 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 45399640 45399640 C T SNP RUNX2 ENST00000352853 human ensembl 70_37 +1 known missense c.668 p.T223I 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC RYR3 6263 genome.wustl.edu 37 15 34080589 34080589 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 34080589 34080589 G A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.9760 p.E3254K 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SESN2 83667 genome.wustl.edu 37 1 28595719 28595719 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 28595719 28595719 G A SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known missense c.116 p.R39Q 0.893 NULL pfam_PA26 - no_errors SESN2 HGNC SLC22A24 283238 genome.wustl.edu 37 11 62871743 62871743 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 62871743 62871743 C T SNP SLC22A24 ENST00000417740 human ensembl 70_37 -1 putative silent c.858 p.L286 0.913 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC SLC38A11 151258 genome.wustl.edu 37 2 165772440 165772440 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 165772440 165772440 T C SNP SLC38A11 ENST00000409149 human ensembl 70_37 -1 known missense c.493 p.I165V 0.799 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC SLC7A10 56301 genome.wustl.edu 37 19 33706703 33706703 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 33706703 33706703 C T SNP SLC7A10 ENST00000253188 human ensembl 70_37 -1 known missense c.328 p.V110I 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC SLFNL1 200172 genome.wustl.edu 37 1 41481881 41481881 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 41481881 41481881 C T SNP SLFNL1 ENST00000302946 human ensembl 70_37 -1 known missense c.1121 p.G374D 0.979 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC SMARCA5 8467 genome.wustl.edu 37 4 144469252 144469252 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 144469252 144469252 C T SNP SMARCA5 ENST00000283131 human ensembl 70_37 +1 known nonsense c.2944 p.Q982* 1.000 pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC SNRNP35 11066 genome.wustl.edu 37 12 123956991 123956991 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 123956991 123956991 G A SNP SNRNP35 ENST00000527158 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNRNP35 HGNC SOX5 6660 genome.wustl.edu 37 12 24048783 24048783 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 24048783 24048783 G C SNP SOX5 ENST00000451604 human ensembl 70_37 -1 known missense c.214 p.L72V 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC SPIN3 169981 genome.wustl.edu 37 X 57021369 57021369 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 57021369 57021369 C T SNP SPIN3 ENST00000374919 human ensembl 70_37 -1 known silent c.12 p.P4 0.006 NULL pfam_Spin_Ssty - no_errors SPIN3 HGNC SPTBN1 6711 genome.wustl.edu 37 2 54871601 54871601 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 54871601 54871601 G A SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.4147 p.E1383K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC SRRM5 100170229 genome.wustl.edu 37 19 44117613 44117613 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 44117613 44117613 G C SNP SRRM5 ENST00000526798 human ensembl 70_37 +1 known missense c.1385 p.R462T 0.016 NULL NULL - no_errors SRRM5 HGNC SRRM5 100170229 genome.wustl.edu 37 19 44117971 44117971 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 44117971 44117971 G C SNP SRRM5 ENST00000526798 human ensembl 70_37 +1 known missense c.1743 p.E581D 0.000 NULL NULL - no_errors SRRM5 HGNC SRRM5 100170229 genome.wustl.edu 37 19 44118135 44118135 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 44118135 44118135 G A SNP SRRM5 ENST00000526798 human ensembl 70_37 +1 known missense c.1907 p.R636K 0.012 NULL NULL - no_errors SRRM5 HGNC SSRP1 6749 genome.wustl.edu 37 11 57101942 57101942 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 57101942 57101942 C T SNP SSRP1 ENST00000278412 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 NULL pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC STAT5B 6777 genome.wustl.edu 37 17 40353804 40353804 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 40353804 40353804 G A SNP STAT5B ENST00000293328 human ensembl 70_37 -1 known silent c.2316 p.L772 0.875 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC STS 412 genome.wustl.edu 37 X 7177409 7177409 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 7177409 7177409 G C SNP STS ENST00000217961 human ensembl 70_37 +1 known missense c.417 p.M139I 0.032 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC SWAP70 23075 genome.wustl.edu 37 11 9749720 9749720 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 9749720 9749720 C T SNP SWAP70 ENST00000318950 human ensembl 70_37 +1 known missense c.763 p.L255F 0.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC SYNE2 23224 genome.wustl.edu 37 14 64686090 64686090 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 64686090 64686090 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.19822 p.D6608N 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNPO 11346 genome.wustl.edu 37 5 150028756 150028756 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 150028756 150028756 T C SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.1651 p.S551P 0.122 NULL NULL - no_errors SYNPO HGNC TAF9 6880 genome.wustl.edu 37 5 68660976 68660976 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 68660976 68660976 G T SNP TAF9 ENST00000217893 human ensembl 70_37 -1 known missense c.589 p.P197T 1.000 NULL pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold - no_errors TAF9 HGNC TAF9 6880 genome.wustl.edu 37 5 68660982 68660982 + Nonsense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 68660982 68660982 G A SNP TAF9 ENST00000217893 human ensembl 70_37 -1 known nonsense c.583 p.Q195* 1.000 NULL pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold - no_errors TAF9 HGNC TCAM1P 146771 genome.wustl.edu 37 17 61940101 61940101 + RNA SNP A A C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 61940101 61940101 A C SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors TCAM1P HGNC TDRD10 126668 genome.wustl.edu 37 1 154516899 154516899 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 154516899 154516899 G A SNP TDRD10 ENST00000368480 human ensembl 70_37 +1 known missense c.703 p.E235K 0.001 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC TECPR2 9895 genome.wustl.edu 37 14 102901414 102901414 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 102901414 102901414 G A SNP TECPR2 ENST00000359520 human ensembl 70_37 +1 known missense c.2260 p.E754K 1.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC TEKT4P2 100132288 genome.wustl.edu 37 21 9908223 9908223 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 9908223 9908223 G A SNP TEKT4P2 ENST00000416067 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TEKT4P2 HGNC TET1 80312 genome.wustl.edu 37 10 70405425 70405425 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 70405425 70405425 C T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.2939 p.S980L 0.001 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC THSD1 55901 genome.wustl.edu 37 13 52971859 52971859 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 52971859 52971859 C T SNP THSD1 ENST00000258613 human ensembl 70_37 -1 known missense c.529 p.E177K 0.134 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC TIAM1 7074 genome.wustl.edu 37 21 32638893 32638893 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 32638893 32638893 G A SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known silent c.396 p.S132 0.997 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC TMEM223 79064 genome.wustl.edu 37 11 62558226 62558226 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 62558226 62558226 G A SNP TMEM223 ENST00000307366 human ensembl 70_37 -1 known missense c.478 p.R160W 1.000 NULL NULL - no_errors TMEM223 HGNC TMEM59L 25789 genome.wustl.edu 37 19 18724918 18724918 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 18724918 18724918 C T SNP TMEM59L ENST00000262817 human ensembl 70_37 +1 known silent c.321 p.C107 0.596 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC TNRC6A 27327 genome.wustl.edu 37 16 24805874 24805874 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 24805874 24805874 C G SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.3362 p.S1121C 1.000 pfam_Argonaute_hook_dom pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC TP53BP2 7159 genome.wustl.edu 37 1 223987747 223987747 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 223987747 223987747 C T SNP TP53BP2 ENST00000343537 human ensembl 70_37 -1 known missense c.1339 p.D447N 0.790 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC TRIM52 84851 genome.wustl.edu 37 5 180687567 180687567 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 180687567 180687567 C T SNP TRIM52 ENST00000327767 human ensembl 70_37 -1 known missense c.248 p.R83Q 0.056 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC TRIOBP 11078 genome.wustl.edu 37 22 38119410 38119410 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 22 38119410 38119410 C T SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known nonsense c.847 p.R283* 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRMT44 152992 genome.wustl.edu 37 4 8469914 8469914 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 8469914 8469914 C G SNP TRMT44 ENST00000389737 human ensembl 70_37 +1 known missense c.1768 p.H590D 0.933 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC TSKS 60385 genome.wustl.edu 37 19 50249909 50249909 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 50249909 50249909 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known nonsense c.810 p.W270* 0.261 NULL NULL - no_errors TSKS HGNC TSKS 60385 genome.wustl.edu 37 19 50249926 50249926 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 50249926 50249926 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.793 p.E265K 0.998 NULL NULL - no_errors TSKS HGNC TSKS 60385 genome.wustl.edu 37 19 50249944 50249944 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 50249944 50249944 C G SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.775 p.E259Q 0.382 NULL NULL - no_errors TSKS HGNC TTC3 7267 genome.wustl.edu 37 21 38519790 38519790 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 38519790 38519790 G C SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.1903 p.E635Q 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC TTC6 319089 genome.wustl.edu 37 14 38277976 38277976 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 38277976 38277976 C T SNP TTC6 ENST00000478811 human ensembl 70_37 +1 known silent c.687 p.I229 0.838 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC TTN 7273 genome.wustl.edu 37 2 179432618 179432618 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 179432618 179432618 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.70537 p.E23513K 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 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 TYW1B 441250 genome.wustl.edu 37 7 72277881 72277881 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 72277881 72277881 G A SNP TYW1B ENST00000437915 human ensembl 70_37 -1 known rna NULL NULL 0.847 - - - no_errors TYW1B HGNC USP34 9736 genome.wustl.edu 37 2 61436045 61436045 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 61436045 61436045 G T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.8908 p.L2970I 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC WBSCR17 64409 genome.wustl.edu 37 7 71177116 71177116 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 71177116 71177116 G A SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known silent c.1782 p.K594 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC WBSCR17 64409 genome.wustl.edu 37 7 71178134 71178134 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 71178134 71178134 G A SNP WBSCR17 ENST00000467723 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors WBSCR17 HGNC WDFY4 57705 genome.wustl.edu 37 10 49951299 49951299 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 49951299 49951299 G A SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.2165 p.G722E 0.692 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR52 55779 genome.wustl.edu 37 3 113023888 113023888 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 113023888 113023888 G A SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known missense c.4870 p.H1624Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC WDR90 197335 genome.wustl.edu 37 16 711352 711352 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 711352 711352 C G SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel missense c.3524 p.S1175C 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC XXYLT1 152002 genome.wustl.edu 37 3 194947453 194947453 + Nonsense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 194947453 194947453 G A SNP XXYLT1 ENST00000310380 human ensembl 70_37 -1 known nonsense c.637 p.Q213* 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC YTHDC2 64848 genome.wustl.edu 37 5 112878116 112878116 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 112878116 112878116 G A SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.1411 p.A471T 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ZC3H12C 85463 genome.wustl.edu 37 11 110030027 110030027 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 110030027 110030027 C T SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known silent c.960 p.F320 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ZCCHC7 84186 genome.wustl.edu 37 9 37120659 37120659 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 37120659 37120659 C T SNP ZCCHC7 ENST00000461038 human ensembl 70_37 +1 known rna NULL NULL 0.123 - - - no_errors ZCCHC7 HGNC ZDHHC13 54503 genome.wustl.edu 37 11 19197442 19197442 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 19197442 19197442 G T SNP ZDHHC13 ENST00000446113 human ensembl 70_37 +1 known missense c.1804 p.D602Y 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ZFHX4 79776 genome.wustl.edu 37 8 77618006 77618006 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 8 77618006 77618006 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.1683 p.D561 0.403 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZIK1 284307 genome.wustl.edu 37 19 58101681 58101681 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 58101681 58101681 C T SNP ZIK1 ENST00000597850 human ensembl 70_37 +1 known missense c.502 p.R168C 0.000 NULL 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 ZIK1 HGNC ZBTB21 49854 genome.wustl.edu 37 21 43411540 43411540 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 43411540 43411540 C T SNP ZNF295 ENST00000310826 human ensembl 70_37 -1 known missense c.2665 p.E889K 0.947 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 ZNF295 HGNC ZNF318 24149 genome.wustl.edu 37 6 43305622 43305622 + Silent SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 43305622 43305622 G C SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known silent c.6114 p.V2038 0.002 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF35 7584 genome.wustl.edu 37 3 44700920 44700920 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 44700920 44700920 C T SNP ZNF35 ENST00000396056 human ensembl 70_37 +1 known silent c.1065 p.I355 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ZNF667 63934 genome.wustl.edu 37 19 56953204 56953204 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 56953204 56953204 C T SNP ZNF667 ENST00000342634 human ensembl 70_37 -1 known missense c.1544 p.R515K 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ZNF780A 284323 genome.wustl.edu 37 19 40580980 40580980 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 40580980 40580980 G A SNP ZNF780A ENST00000455521 human ensembl 70_37 -1 known missense c.1372 p.H458Y 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780A HGNC ZSCAN2 54993 genome.wustl.edu 37 15 85165835 85165835 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 85165835 85165835 C T SNP ZSCAN2 ENST00000538076 human ensembl 70_37 +1 putative silent c.604 p.L202 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC