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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AATK-AS1 0 genome.wustl.edu 37 17 79139525 79139525 + RNA SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 79139525 79139525 C T SNP AATK-AS1 ENST00000414089 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AATK-AS1 HGNC ENSG00000225180 32 0 0.00 37 10 21.28 ABCB11 0 genome.wustl.edu 37 2 169801231 169801231 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 169801231 169801231 G T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.2494 p.R832S 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 35 0 0.00 32 2 5.88 ACACB 0 genome.wustl.edu 37 12 109675106 109675106 + Missense_Mutation SNP A A C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 109675106 109675106 A C SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.4583 p.K1528T 0.981 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 54 0 0.00 45 7 13.46 ACTRT1 0 genome.wustl.edu 37 X 127185461 127185461 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c X 127185461 127185461 C G SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.725 p.R242T 0.282 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 20 0 0.00 14 10 41.67 ADAM21P1 0 genome.wustl.edu 37 14 70714300 70714300 + RNA SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 14 70714300 70714300 A G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM21P1 HGNC ENSG00000235812 24 0 0.00 29 6 17.14 ADO 0 genome.wustl.edu 37 10 64565449 64565449 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 10 64565449 64565449 G A SNP ADO ENST00000373783 human ensembl 74_37 +1 known silent c.630 p.P210 0.970 pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors ADO HGNC ENSG00000181915 24 0 0.00 19 4 17.39 AGRN 0 genome.wustl.edu 37 1 982784 982784 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 982784 982784 G T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.3466 p.D1156Y 1.000 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 21 0 0.00 15 8 34.78 AKT1 0 genome.wustl.edu 37 14 105241542 105241542 + Silent SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 14 105241542 105241542 G T SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known silent c.438 p.T146 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 42 0 0.00 52 3 5.45 ALDH1L2 0 genome.wustl.edu 37 12 105433542 105433542 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 105433542 105433542 C T SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.1994 p.R665H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 34 0 0.00 53 3 5.36 ALDH3A1 0 genome.wustl.edu 37 17 19646639 19646639 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 19646639 19646639 G A SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known silent c.300 p.I100 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 31 0 0.00 21 7 25.00 ALDH3A2 0 genome.wustl.edu 37 17 19575092 19575092 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 19575092 19575092 G T SNP ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known missense c.1266 p.Q422H 0.009 superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 57 0 0.00 35 2 5.41 ANKRD13D 0 genome.wustl.edu 37 11 67068552 67068552 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 67068552 67068552 G A SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.1165 p.A389T 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 15 0 0.00 25 2 7.41 ANKRD42 0 genome.wustl.edu 37 11 82921358 82921358 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 82921358 82921358 G T SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known missense c.263 p.G88V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ENSG00000137494 62 0 0.00 35 2 5.41 ANKUB1 0 genome.wustl.edu 37 3 149498106 149498106 + Splice_Site SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 149498106 149498106 A G SNP ANKUB1 ENST00000484019 human ensembl 74_37 -1 known splice_site c.120+2 e2+2 0.987 - - - no_errors ANKUB1 HGNC ENSG00000206199 41 0 0.00 85 11 11.46 ARSE 0 genome.wustl.edu 37 X 2861176 2861176 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c X 2861176 2861176 C T SNP ARSE ENST00000545496 human ensembl 74_37 -1 known silent c.1131 p.S377 0.893 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 30 0 0.00 6 18 75.00 ASNS 0 genome.wustl.edu 37 7 97493669 97493669 + Missense_Mutation SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 97493669 97493669 T C SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.389 p.N130S 1.000 pfam_GATase_dom,tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 30 0 0.00 24 27 52.94 ATP11C 0 genome.wustl.edu 37 X 138864830 138864830 + Missense_Mutation SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c X 138864830 138864830 T C SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.1837 p.R613G 0.416 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 46 0 0.00 10 49 83.05 ATXN1L 0 genome.wustl.edu 37 16 71885540 71885540 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 71885540 71885540 C T SNP ATXN1L ENST00000427980 human ensembl 74_37 +1 known missense c.1897 p.R633C 0.799 NULL pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1L HGNC ENSG00000224470 18 0 0.00 13 11 45.83 B3GALNT1 0 genome.wustl.edu 37 3 160804342 160804342 + Silent SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 160804342 160804342 A G SNP B3GALNT1 ENST00000320474 human ensembl 74_37 -1 known silent c.201 p.L67 0.017 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GALNT1 HGNC ENSG00000169255 62 0 0.00 98 9 8.41 B3GNT2 0 genome.wustl.edu 37 2 62449623 62449623 + Missense_Mutation SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 62449623 62449623 A G SNP B3GNT2 ENST00000301998 human ensembl 74_37 +1 known missense c.268 p.I90V 0.000 NULL pfam_Glyco_trans_31 - no_errors B3GNT2 HGNC ENSG00000170340 10 0 0.00 8 4 33.33 BTBD16 0 genome.wustl.edu 37 10 124096188 124096188 + Nonsense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 10 124096188 124096188 C A SNP BTBD16 ENST00000368994 human ensembl 74_37 +1 known nonsense c.1446 p.C482* 1.000 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 17 0 0.00 17 2 10.53 C17orf66 0 genome.wustl.edu 37 17 34185496 34185496 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 34185496 34185496 G A SNP C17orf66 ENST00000311880 human ensembl 74_37 -1 known missense c.973 p.H325Y 0.025 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C17orf66 HGNC ENSG00000172653 22 0 0.00 22 4 15.38 C19orf35 0 genome.wustl.edu 37 19 2278932 2278932 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 2278932 2278932 C G SNP C19orf35 ENST00000342063 human ensembl 74_37 -1 known missense c.263 p.R88T 0.022 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 54 0 0.00 76 42 35.59 C20orf194 0 genome.wustl.edu 37 20 3240608 3240608 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 20 3240608 3240608 G A SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.2940 p.G980 0.939 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 41 0 0.00 48 11 18.64 C4B 0 genome.wustl.edu 37 6 31996297 31996297 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 31996297 31996297 G A SNP C4B ENST00000435363 human ensembl 74_37 +1 known missense c.3218 p.G1073D 0.060 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4B HGNC ENSG00000224389 56 0 0.00 4 3 42.86 C5orf54 0 genome.wustl.edu 37 5 159821568 159821568 + Silent SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 159821568 159821568 T C SNP C5orf54 ENST00000408953 human ensembl 74_37 -1 known silent c.930 p.L310 0.969 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 34 0 0.00 7 20 74.07 C5orf60 0 genome.wustl.edu 37 5 179071847 179071847 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 179071847 179071847 G T SNP C5orf60 ENST00000448248 human ensembl 74_37 -1 known missense c.175 p.P59T 0.013 NULL NULL - no_errors C5orf60 HGNC ENSG00000204661 60 0 0.00 68 4 5.56 CADM2 0 genome.wustl.edu 37 3 86114860 86114860 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 86114860 86114860 G A SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.1175 p.R392Q 1.000 smart_Neurexin-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 67 0 0.00 6 38 86.36 CAND1 0 genome.wustl.edu 37 12 67698914 67698914 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 67698914 67698914 G T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.1466 p.S489I 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 53 0 0.00 38 3 7.32 CARD11 0 genome.wustl.edu 37 7 2962953 2962953 + Nonsense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 2962953 2962953 G T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known nonsense c.1955 p.S652* 0.997 superfamily_PDZ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 45 0 0.00 46 3 6.12 CASR 0 genome.wustl.edu 37 3 121980842 121980842 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 121980842 121980842 C A SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.960 p.F320L 0.980 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 28 0 0.00 29 3 9.38 CCDC174 0 genome.wustl.edu 37 3 14693378 14693378 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 14693378 14693378 C A SNP CCDC174 ENST00000383794 human ensembl 74_37 +1 known missense c.35 p.A12D 0.980 NULL NULL - no_errors CCDC174 HGNC ENSG00000154781 40 0 0.00 28 4 12.50 CD207 0 genome.wustl.edu 37 2 71062705 71062705 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 71062705 71062705 G T SNP CD207 ENST00000410009 human ensembl 74_37 -1 known missense c.107 p.P36Q 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC ENSG00000116031 44 0 0.00 34 4 10.53 CERCAM 0 genome.wustl.edu 37 9 131196803 131196803 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 9 131196803 131196803 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known silent c.1446 p.A482 0.158 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 30 0 0.00 18 5 21.74 CHD3 0 genome.wustl.edu 37 17 7803295 7803295 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 7803295 7803295 C T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.2626 p.R876C 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 51 0 0.00 35 18 33.96 CHST10 0 genome.wustl.edu 37 2 101014417 101014417 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 101014417 101014417 G T SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known missense c.524 p.P175H 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST10 HGNC ENSG00000115526 26 0 0.00 25 11 30.56 CLEC4F 0 genome.wustl.edu 37 2 71043299 71043299 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 71043299 71043299 G T SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known missense c.1214 p.S405Y 0.009 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 76 0 0.00 60 4 6.25 CLTCL1 0 genome.wustl.edu 37 22 19207487 19207487 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 22 19207487 19207487 G A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known silent c.2826 p.S942 0.996 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 58 0 0.00 39 57 59.38 CLTCL1 0 genome.wustl.edu 37 22 19209533 19209533 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 22 19209533 19209533 C G SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.2502 p.M834I 1.000 superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 43 0 0.00 63 10 13.70 COL24A1 0 genome.wustl.edu 37 1 86289379 86289379 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 86289379 86289379 G C SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.3724 p.Q1242E 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 53 0 0.00 21 7 25.00 COL5A2 0 genome.wustl.edu 37 2 189933524 189933524 + Silent SNP A A T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 189933524 189933524 A T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known silent c.1245 p.S415 0.282 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 53 0 0.00 23 23 50.00 COL6A5 0 genome.wustl.edu 37 3 130134526 130134526 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 130134526 130134526 G A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.4799 p.G1600E 0.985 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 18 0 0.00 34 7 17.07 COL6A6 0 genome.wustl.edu 37 3 130282064 130282064 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 130282064 130282064 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.217 p.D73Y 0.908 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 50 0 0.00 50 23 31.51 COL7A1 0 genome.wustl.edu 37 3 48624968 48624968 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 48624968 48624968 G T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.2877 p.S959R 0.148 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 20 0 0.00 2 16 88.89 CORO2A 0 genome.wustl.edu 37 9 100895438 100895438 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 9 100895438 100895438 C T SNP CORO2A ENST00000343933 human ensembl 74_37 -1 known missense c.530 p.S177N 0.014 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 66 0 0.00 60 27 31.03 CSF2RA 0 genome.wustl.edu 37 X 1419478 1419478 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c X 1419478 1419478 G A SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.905 p.R302H 0.003 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 143 0 0.00 65 4 5.80 CTNNA2 0 genome.wustl.edu 37 2 80816472 80816472 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 80816472 80816472 C A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2153 p.A718D 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 71 0 0.00 54 4 6.90 DNAH11 0 genome.wustl.edu 37 7 21628842 21628842 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 21628842 21628842 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.1990 p.D664N 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 90 0 0.00 115 9 7.26 DNAJB1 0 genome.wustl.edu 37 19 14628955 14628955 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 14628955 14628955 C T SNP DNAJB1 ENST00000254322 human ensembl 74_37 -1 known silent c.207 p.E69 1.000 superfamily_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB1 HGNC ENSG00000132002 54 0 0.00 23 24 51.06 DNER 0 genome.wustl.edu 37 2 230312083 230312083 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 230312083 230312083 G A SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.1435 p.H479Y 0.998 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 31 0 0.00 36 9 20.00 DRD5 0 genome.wustl.edu 37 4 9784785 9784785 + Missense_Mutation SNP T T G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 9784785 9784785 T G SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.1132 p.F378V 0.043 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 40 0 0.00 28 3 9.68 DSCAM 0 genome.wustl.edu 37 21 41496159 41496159 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 21 41496159 41496159 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.3659 p.R1220Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 48 0 0.00 20 25 55.56 DST 0 genome.wustl.edu 37 6 56394339 56394339 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 56394339 56394339 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.17409 p.M5803I 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 22 0 0.00 36 2 5.26 DST 0 genome.wustl.edu 37 6 56420474 56420474 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 56420474 56420474 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.14712 p.L4904F 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 53 0 0.00 70 4 5.41 EFCAB6 0 genome.wustl.edu 37 22 44107417 44107417 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 22 44107417 44107417 C A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.969 p.K323N 0.964 smart_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 41 0 0.00 48 3 5.88 ENSG00000205018 0 genome.wustl.edu 37 16 89017435 89017435 + Silent SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 89017435 89017435 G C SNP ENSG00000205018 ENST00000378347 human ensembl 74_37 +1 putative silent c.909 p.R303 0.977 NULL NULL - no_errors RP11-830F9.6 Clone_based_vega_gene ENSG00000205018 179 0 0.00 99 51 34.00 ENSG00000268194 0 genome.wustl.edu 37 2 121223556 121223556 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 121223556 121223556 G T SNP ENSG00000268194 ENST00000593290 human ensembl 74_37 -1 known missense c.131 p.S44Y 0.010 NULL NULL - no_errors FLJ14816 Uniprot_gn ENSG00000268194 30 0 0.00 26 3 10.34 ERAP1 0 genome.wustl.edu 37 5 96139172 96139172 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 96139172 96139172 C G SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known missense c.458 p.G153A 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 29 0 0.00 30 25 45.45 EVC 0 genome.wustl.edu 37 4 5743442 5743442 + Splice_Site SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 5743442 5743442 G A SNP EVC ENST00000264956 human ensembl 74_37 +1 known splice_site c.703-1 e6-1 1.000 - - - no_errors EVC HGNC ENSG00000072840 32 0 0.00 14 11 44.00 FAM65B 0 genome.wustl.edu 37 6 24865603 24865603 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 24865603 24865603 C T SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.490 p.A164T 0.993 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 44 0 0.00 40 3 6.98 FBXO18 0 genome.wustl.edu 37 10 5955768 5955768 + Missense_Mutation SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 10 5955768 5955768 A G SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.1423 p.T475A 0.036 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 105 0 0.00 35 25 41.67 FLG 0 genome.wustl.edu 37 1 152284593 152284593 + Silent SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 152284593 152284593 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.2769 p.S923 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 187 0 0.00 157 55 25.70 FSIP2 0 genome.wustl.edu 37 2 186669759 186669759 + Silent SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 186669759 186669759 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.15993 p.G5331 0.882 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 51 0 0.00 26 26 50.00 FTSJ2 0 genome.wustl.edu 37 7 2279081 2279081 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 2279081 2279081 C T SNP FTSJ2 ENST00000242257 human ensembl 74_37 -1 known silent c.270 p.A90 0.535 pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 20 0 0.00 18 3 14.29 GAREML 0 genome.wustl.edu 37 2 26407104 26407104 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 26407104 26407104 G A SNP GAREML ENST00000401533 human ensembl 74_37 +1 known silent c.387 p.V129 1.000 NULL superfamily_SAM/pointed - no_errors GAREML HGNC ENSG00000157833 52 0 0.00 30 4 11.76 GART 0 genome.wustl.edu 37 21 34901225 34901225 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 21 34901225 34901225 G C SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.742 p.L248V 0.996 pfam_PRibGlycinamid_synth_ATP-grasp,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 62 0 0.00 28 25 47.17 GBP1P1 0 genome.wustl.edu 37 1 89890100 89890100 + RNA SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 89890100 89890100 A G SNP GBP1P1 ENST00000513638 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GBP1P1 HGNC ENSG00000225492 38 0 0.00 21 11 34.38 GHR 0 genome.wustl.edu 37 5 42719319 42719319 + Silent SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 42719319 42719319 A G SNP GHR ENST00000230882 human ensembl 74_37 +1 known silent c.1710 p.E570 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 44 0 0.00 38 3 7.32 GPR161 0 genome.wustl.edu 37 1 168066418 168066418 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 168066418 168066418 G A SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.487 p.R163W 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 42 0 0.00 43 11 20.37 GRIPAP1 0 genome.wustl.edu 37 X 48847121 48847121 + Silent SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c X 48847121 48847121 G T SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known silent c.666 p.S222 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 19 0 0.00 11 3 21.43 GUCD1 0 genome.wustl.edu 37 22 24944925 24944925 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 22 24944925 24944925 G A SNP GUCD1 ENST00000407471 human ensembl 74_37 -1 known missense c.88 p.H30Y 1.000 pfam_Guanylyl_cyclase pfam_Guanylyl_cyclase - no_errors GUCD1 HGNC ENSG00000138867 26 0 0.00 39 17 30.36 HADHA 0 genome.wustl.edu 37 2 26435399 26435399 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 26435399 26435399 C T SNP HADHA ENST00000457468 human ensembl 74_37 -1 known missense c.754 p.G252R 0.000 NULL pfam_Crotonase_core_superfam - no_errors HADHA HGNC ENSG00000084754 30 0 0.00 23 12 34.29 HCFC2 0 genome.wustl.edu 37 12 104458353 104458353 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 104458353 104458353 C T SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known silent c.15 p.S5 0.999 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 16 0 0.00 14 3 17.65 HDHD2 0 genome.wustl.edu 37 18 44639384 44639384 + Nonsense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 18 44639384 44639384 G A SNP HDHD2 ENST00000300605 human ensembl 74_37 -1 known nonsense c.640 p.Q214* 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors HDHD2 HGNC ENSG00000167220 35 0 0.00 169 24 12.44 HEATR5B 0 genome.wustl.edu 37 2 37268370 37268370 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 37268370 37268370 C G SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.2762 p.R921P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 54 0 0.00 49 4 7.41 HIST1H2AC 0 genome.wustl.edu 37 6 26124702 26124702 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 26124702 26124702 C A SNP HIST1H2AC ENST00000314088 human ensembl 74_37 +1 known missense c.242 p.P81Q 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AC HGNC ENSG00000180573 85 0 0.00 49 23 31.94 HIST1H2BH 0 genome.wustl.edu 37 6 26252158 26252158 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 26252158 26252158 G C SNP HIST1H2BH ENST00000356350 human ensembl 74_37 +1 known missense c.280 p.E94Q 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 65 0 0.00 38 14 26.92 HSF2 0 genome.wustl.edu 37 6 122752627 122752627 + Nonsense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 122752627 122752627 C A SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known nonsense c.1283 p.S428* 1.000 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 35 0 0.00 22 2 8.33 HSPG2 0 genome.wustl.edu 37 1 22178378 22178378 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 22178378 22178378 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.6912 p.A2304 0.001 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 27 0 0.00 15 3 16.67 IL32 0 genome.wustl.edu 37 16 3119294 3119294 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 3119294 3119294 C A SNP IL32 ENST00000396890 human ensembl 74_37 +1 known missense c.643 p.P215T 0.000 NULL NULL - no_errors IL32 HGNC ENSG00000008517 47 0 0.00 38 2 5.00 INSR 0 genome.wustl.edu 37 19 7152788 7152788 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 7152788 7152788 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.2180 p.S727L 0.739 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 20 0 0.00 32 20 38.46 IPO4 0 genome.wustl.edu 37 14 24657980 24657981 + In_Frame_Ins INS - - CGG TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 14 24657980 24657981 0 CGG INS IPO4 ENST00000354464 human ensembl 74_37 -1 known in_frame_ins c.14_13 p.5in_frame_insA 0.998:0.993 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 9 0 0.00 6 8 57.14 IRF3 0 genome.wustl.edu 37 19 50163082 50163082 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 50163082 50163082 G A SNP IRF3 ENST00000601291 human ensembl 74_37 -1 putative missense c.1123 p.H375Y 0.996 NULL pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 48 0 0.00 57 4 6.56 ITGA4 0 genome.wustl.edu 37 2 182374501 182374501 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 182374501 182374501 G T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.1812 p.Q604H 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 46 0 0.00 38 2 5.00 IZUMO2 0 genome.wustl.edu 37 19 50666269 50666269 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 50666269 50666269 C G SNP IZUMO2 ENST00000293405 human ensembl 74_37 -1 known missense c.183 p.E61D 0.998 NULL NULL - no_errors IZUMO2 HGNC ENSG00000161652 49 0 0.00 34 4 10.53 KCNH6 0 genome.wustl.edu 37 17 61619749 61619749 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 61619749 61619749 C T SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.2102 p.A701V 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 47 0 0.00 55 3 5.17 KIAA0408 0 genome.wustl.edu 37 6 127767634 127767634 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 127767634 127767634 C T SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.1830 p.M610I 0.800 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 75 0 0.00 31 4 11.43 KIAA1147 0 genome.wustl.edu 37 7 141366131 141366131 + Missense_Mutation SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 141366131 141366131 A G SNP KIAA1147 ENST00000536163 human ensembl 74_37 -1 known missense c.776 p.I259T 1.000 pfam_DUF2347 pfam_DUF2347 - no_errors KIAA1147 HGNC ENSG00000257093 47 0 0.00 19 11 36.67 KIAA1430 0 genome.wustl.edu 37 4 186111979 186111979 + Silent SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 186111979 186111979 T C SNP KIAA1430 ENST00000296775 human ensembl 74_37 -1 known silent c.372 p.V124 0.001 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 67 0 0.00 27 38 58.46 KLHL8 0 genome.wustl.edu 37 4 88104481 88104481 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 88104481 88104481 C T SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.826 p.V276I 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 41 0 0.00 15 12 44.44 KPNB1 0 genome.wustl.edu 37 17 45730174 45730174 + Missense_Mutation SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 45730174 45730174 A G SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.214 p.I72V 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 31 0 0.00 53 4 7.02 KSR2 0 genome.wustl.edu 37 12 117914382 117914382 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 117914382 117914382 G A SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.2469 p.R823 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 42 0 0.00 31 2 6.06 LINC00922 0 genome.wustl.edu 37 16 65388165 65388165 + RNA SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 65388165 65388165 G A SNP LINC00922 ENST00000564041 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00922 HGNC ENSG00000261742 78 0 0.00 66 20 22.99 LINC00951 0 genome.wustl.edu 37 6 40312262 40312262 + RNA SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 40312262 40312262 C T SNP LINC00951 ENST00000373171 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00951 HGNC ENSG00000204092 20 0 0.00 3 19 86.36 LIPE 0 genome.wustl.edu 37 19 42914736 42914736 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 42914736 42914736 C T SNP LIPE ENST00000244289 human ensembl 74_37 -1 known missense c.1142 p.R381H 1.000 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 29 0 0.00 21 11 34.38 LOC100287290 0 genome.wustl.edu 37 3 158460573 158460573 + RNA SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 158460573 158460573 G T SNP LOC100287290 ENST00000477589 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-379F4.4 Clone_based_vega_gene ENSG00000240207 44 0 0.00 58 25 30.12 LRFN4 0 genome.wustl.edu 37 11 66627517 66627517 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 66627517 66627517 G A SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known missense c.1759 p.D587N 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 70 0 0.00 31 14 31.11 LRP6 0 genome.wustl.edu 37 12 12274319 12274319 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 12274319 12274319 G T SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.4583 p.P1528H 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 32 0 0.00 31 2 6.06 LRRC40 0 genome.wustl.edu 37 1 70671212 70671212 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 70671212 70671212 C T SNP LRRC40 ENST00000370952 human ensembl 74_37 -1 known silent c.12 p.L4 0.002 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 24 0 0.00 10 7 41.18 LTN1 0 genome.wustl.edu 37 21 30342970 30342971 + Frame_Shift_Ins INS - - A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 21 30342970 30342971 0 A INS LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_ins c.1217_1216 p.Y406fs 1.000:0.999 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 55 0 0.00 16 24 60.00 MAMDC4 0 genome.wustl.edu 37 9 139753531 139753531 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 9 139753531 139753531 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.3268 p.R1090W 0.254 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 25 0 0.00 17 10 37.04 MAP6 0 genome.wustl.edu 37 11 75298556 75298556 + Missense_Mutation SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 75298556 75298556 T C SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known missense c.1990 p.M664V 0.000 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 49 0 0.00 16 17 51.52 MEPCE 0 genome.wustl.edu 37 7 100028402 100028402 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 100028402 100028402 C T SNP MEPCE ENST00000310512 human ensembl 74_37 +1 known missense c.761 p.S254L 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 12 0 0.00 40 7 14.89 MFSD6 0 genome.wustl.edu 37 2 191301211 191301211 + Silent SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 191301211 191301211 C G SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known silent c.456 p.V152 0.979 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 20 0 0.00 23 12 34.29 MGAM 0 genome.wustl.edu 37 7 141755858 141755858 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 141755858 141755858 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.3542 p.S1181N 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 58 0 0.00 30 4 11.76 MIR558 0 genome.wustl.edu 37 2 32757250 32757250 + RNA SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 32757250 32757250 A G SNP MIR558 ENST00000384920 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR558 HGNC ENSG00000207653 23 0 0.00 28 12 30.00 MPDZ 0 genome.wustl.edu 37 9 13221476 13221476 + Silent SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 9 13221476 13221476 C A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.771 p.T257 0.219 superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 42 0 0.00 27 2 6.90 MUC17 0 genome.wustl.edu 37 7 100696700 100696700 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 100696700 100696700 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.13346 p.G4449D 0.922 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 30 0 0.00 29 11 27.50 MYO7A 0 genome.wustl.edu 37 11 76883862 76883862 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 76883862 76883862 G C SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.1866 p.M622I 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,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_P-loop_NTPase,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 ENSG00000137474 63 0 0.00 32 4 11.11 NBR2 0 genome.wustl.edu 37 17 41297004 41297004 + RNA SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 41297004 41297004 G T SNP NBR2 ENST00000460115 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors NBR2 HGNC ENSG00000198496 23 0 0.00 27 4 12.90 NEK11 0 genome.wustl.edu 37 3 130947497 130947497 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 130947497 130947497 G A SNP NEK11 ENST00000383366 human ensembl 74_37 +1 known missense c.1525 p.E509K 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 14 0 0.00 15 5 25.00 NFE2L2 0 genome.wustl.edu 37 2 178098960 178098961 + In_Frame_Ins INS - - TAT TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 178098960 178098961 0 TAT INS NFE2L2 ENST00000397062 human ensembl 74_37 -1 known in_frame_ins c.85_84 p.28in_frame_insI 1.000:0.992 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 36 0 0.00 57 18 24.00 NIN 0 genome.wustl.edu 37 14 51259444 51259444 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 14 51259444 51259444 C A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.421 p.G141C 0.006 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 43 0 0.00 38 2 5.00 NKD2 0 genome.wustl.edu 37 5 1038447 1038449 + In_Frame_Del DEL CAC CAC - TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 1038447 1038449 CAC 0 DEL NKD2 ENST00000296849 human ensembl 74_37 +1 known in_frame_del c.1315_1317 p.H442in_frame_del 1.000:1.000:1.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 24 0 0.00 67 5 6.94 NMT2 0 genome.wustl.edu 37 10 15183006 15183006 + Missense_Mutation SNP A A T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 10 15183006 15183006 A T SNP NMT2 ENST00000378150 human ensembl 74_37 -1 known missense c.187 p.F63I 0.834 pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 28 0 0.00 16 6 27.27 NOS3 0 genome.wustl.edu 37 7 150695532 150695532 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 150695532 150695532 C T SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.670 p.L224F 0.997 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 41 0 0.00 8 9 52.94 NR4A2 0 genome.wustl.edu 37 2 157185008 157185008 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 157185008 157185008 G T SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.935 p.A312E 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 44 0 0.00 62 4 6.06 OASL 0 genome.wustl.edu 37 12 121476752 121476752 + Missense_Mutation SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 121476752 121476752 T C SNP OASL ENST00000257570 human ensembl 74_37 -1 known missense c.23 p.Y8C 0.075 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 27 0 0.00 17 6 26.09 ODAM 0 genome.wustl.edu 37 4 71062448 71062448 + Nonsense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 71062448 71062448 G T SNP ODAM ENST00000396094 human ensembl 74_37 +1 known nonsense c.91 p.E31* 1.000 NULL NULL - no_errors ODAM HGNC ENSG00000109205 19 0 0.00 17 4 18.18 OLA1 0 genome.wustl.edu 37 2 175087808 175087808 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 175087808 175087808 G A SNP OLA1 ENST00000284719 human ensembl 74_37 -1 known missense c.326 p.A109V 1.000 pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 26 0 0.00 21 6 22.22 OLA1 0 genome.wustl.edu 37 2 175087809 175087809 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 175087809 175087809 C A SNP OLA1 ENST00000284719 human ensembl 74_37 -1 known missense c.325 p.A109S 1.000 pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 26 0 0.00 21 5 19.23 OLFML2B 0 genome.wustl.edu 37 1 161953792 161953792 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 161953792 161953792 G C SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1926 p.S642R 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 51 0 0.00 39 12 23.53 OPN3 0 genome.wustl.edu 37 1 241755423 241755423 + Splice_Site SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 241755423 241755423 C G SNP OPN3 ENST00000462265 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.144 - - - no_errors OPN3 HGNC ENSG00000054277 27 0 0.00 31 18 36.73 OR10H4 0 genome.wustl.edu 37 19 16059901 16059901 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 16059901 16059901 G C SNP OR10H4 ENST00000322107 human ensembl 74_37 +1 known missense c.84 p.L28F 0.019 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H4 HGNC ENSG00000176231 90 0 0.00 106 22 17.05 OR2M7 0 genome.wustl.edu 37 1 248487277 248487277 + Silent SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 248487277 248487277 A G SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known silent c.594 p.V198 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 138 0 0.00 94 40 29.85 OR4C15 0 genome.wustl.edu 37 11 55322499 55322499 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 55322499 55322499 G A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.717 p.E239 0.274 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 41 0 0.00 41 25 37.88 OR4M2 0 genome.wustl.edu 37 15 22368839 22368839 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 15 22368839 22368839 G A SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative silent c.264 p.E88 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 130 0 0.00 90 10 10.00 OR4S1 0 genome.wustl.edu 37 11 48328372 48328372 + Missense_Mutation SNP A A C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 48328372 48328372 A C SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known missense c.598 p.N200H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 103 0 0.00 82 26 23.85 OR9A4 0 genome.wustl.edu 37 7 141619455 141619455 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 141619455 141619455 G A SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known silent c.780 p.V260 0.770 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 25 0 0.00 20 9 31.03 OTUD4 0 genome.wustl.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 146059006 146059006 G A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.2921 p.T974I 0.392 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 55 0 0.00 52 3 5.36 OXA1L 0 genome.wustl.edu 37 14 23239003 23239003 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 14 23239003 23239003 C T SNP OXA1L ENST00000285848 human ensembl 74_37 +1 known missense c.623 p.T208I 1.000 pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C - no_errors OXA1L HGNC ENSG00000155463 39 0 0.00 53 3 5.36 PAK1 0 genome.wustl.edu 37 11 77054946 77054946 + Nonsense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 77054946 77054946 G A SNP PAK1 ENST00000278568 human ensembl 74_37 -1 known nonsense c.916 p.Q306* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK1 HGNC ENSG00000149269 53 0 0.00 16 17 51.52 PAPPA2 0 genome.wustl.edu 37 1 176734869 176734869 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 176734869 176734869 G C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.4219 p.V1407L 0.966 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 62 0 0.00 49 18 26.87 PCDH11X 0 genome.wustl.edu 37 X 91642780 91642780 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c X 91642780 91642780 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3191 p.S1064N 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 27 0 0.00 12 13 50.00 PCDHB2 0 genome.wustl.edu 37 5 140476237 140476237 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 140476237 140476237 G A SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.1863 p.A621 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 PCDHB2 HGNC ENSG00000112852 101 0 0.00 52 63 54.78 PDE8B 0 genome.wustl.edu 37 5 76633130 76633130 + Missense_Mutation SNP T T A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 76633130 76633130 T A SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.787 p.F263I 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 40 0 0.00 31 3 8.82 PELI3 0 genome.wustl.edu 37 11 66235713 66235713 + Silent SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 66235713 66235713 C A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.114 p.G38 0.994 NULL pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 25 0 0.00 33 2 5.71 PHLPP1 0 genome.wustl.edu 37 18 60639791 60639791 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 18 60639791 60639791 G A SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.3605 p.R1202H 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 49 0 0.00 30 17 36.17 PJA2 0 genome.wustl.edu 37 5 108714946 108714946 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 108714946 108714946 G C SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known missense c.242 p.P81R 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 28 0 0.00 15 7 31.82 PKHD1L1 0 genome.wustl.edu 37 8 110396356 110396356 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 8 110396356 110396356 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.475 p.G159C 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 43 0 0.00 32 2 5.88 PLXNA1 0 genome.wustl.edu 37 3 126708351 126708351 + Silent SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 126708351 126708351 G T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.915 p.A305 0.140 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 31 0 0.00 31 2 6.06 PLXNA1 0 genome.wustl.edu 37 3 126737237 126737237 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 126737237 126737237 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.3761 p.G1254D 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 53 0 0.00 73 18 19.57 PLXNB1 0 genome.wustl.edu 37 3 48465887 48465887 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 48465887 48465887 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.134 p.G45D 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 63 0 0.00 36 4 10.00 PMFBP1 0 genome.wustl.edu 37 16 72159999 72159999 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 72159999 72159999 C T SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known silent c.2136 p.L712 0.295 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 64 0 0.00 59 4 6.35 PODXL2 0 genome.wustl.edu 37 3 127390276 127390276 + Splice_Site SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 127390276 127390276 G C SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known splice_site c.1426-1 e7-1 1.000 - - - no_errors PODXL2 HGNC ENSG00000114631 46 0 0.00 48 25 34.25 POGZ 0 genome.wustl.edu 37 1 151400365 151400365 + Frame_Shift_Del DEL C C - TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 151400365 151400365 C 0 DEL POGZ ENST00000271715 human ensembl 74_37 -1 known frame_shift_del c.1012 p.V338fs 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 40 0 0.00 10 18 64.29 POLR3G 0 genome.wustl.edu 37 5 89781458 89781458 + Missense_Mutation SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 89781458 89781458 A G SNP POLR3G ENST00000399107 human ensembl 74_37 +1 known missense c.74 p.E25G 0.999 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3G HGNC ENSG00000113356 76 0 0.00 48 21 30.43 PPP1R9A 0 genome.wustl.edu 37 7 94750088 94750088 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 94750088 94750088 G T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1593 p.K531N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 53 0 0.00 78 5 5.95 PPP2R1B 0 genome.wustl.edu 37 11 111635631 111635631 + Splice_Site SNP T T A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 111635631 111635631 T A SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known splice_site c.206-2 e3-2 0.997 - - - no_errors PPP2R1B HGNC ENSG00000137713 9 0 0.00 6 5 45.45 PRDM9 0 genome.wustl.edu 37 5 23527075 23527075 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 23527075 23527075 C G SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1878 p.H626Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 75 0 0.00 32 27 45.76 PRSS12 0 genome.wustl.edu 37 4 119220048 119220048 + Silent SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 119220048 119220048 T C SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known silent c.1677 p.K559 0.988 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 55 0 0.00 33 2 5.71 PTCHD3 0 genome.wustl.edu 37 10 27702261 27702261 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 10 27702261 27702261 C G SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.919 p.G307R 0.021 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 33 0 0.00 24 5 17.24 PTGIS 0 genome.wustl.edu 37 20 48127675 48127675 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 20 48127675 48127675 C A SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known missense c.1248 p.E416D 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 28 0 0.00 27 4 12.90 PTH2R 0 genome.wustl.edu 37 2 209345817 209345817 + Missense_Mutation SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 209345817 209345817 A G SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.1004 p.N335S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 84 0 0.00 83 15 15.31 PTPN1 0 genome.wustl.edu 37 20 49195772 49195772 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 20 49195772 49195772 G A SNP PTPN1 ENST00000371621 human ensembl 74_37 +1 known missense c.770 p.R257Q 0.999 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 48 0 0.00 33 34 50.75 PTPRM 0 genome.wustl.edu 37 18 7774252 7774252 + Missense_Mutation SNP A A T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 18 7774252 7774252 A T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.179 p.D60V 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 65 0 0.00 56 22 28.21 RANGAP1 0 genome.wustl.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 22 41650402 41650402 C T SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.1170 p.E390 0.781 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 33 0 0.00 38 2 5.00 RBM6 0 genome.wustl.edu 37 3 50098935 50098935 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 50098935 50098935 C T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known silent c.2394 p.Y798 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 116 0 0.00 58 34 36.96 RNF213 0 genome.wustl.edu 37 17 78319437 78319437 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 78319437 78319437 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.7302 p.S2434 0.191 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 59 0 0.00 34 33 49.25 SBSN 0 genome.wustl.edu 37 19 36018326 36018326 + Silent SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 36018326 36018326 A G SNP SBSN ENST00000452271 human ensembl 74_37 -1 novel silent c.858 p.A286 0.000 NULL NULL - no_errors SBSN HGNC ENSG00000189001 134 0 0.00 111 6 5.08 SEC61A1 0 genome.wustl.edu 37 3 127775657 127775657 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 127775657 127775657 G T SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known missense c.326 p.R109L 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 85 0 0.00 61 57 48.31 SERINC1 0 genome.wustl.edu 37 6 122792867 122792867 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 122792867 122792867 C G SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known missense c.16 p.G6R 1.000 NULL pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 23 0 0.00 8 12 60.00 SLC22A9 0 genome.wustl.edu 37 11 63176300 63176300 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 63176300 63176300 C T SNP SLC22A9 ENST00000279178 human ensembl 74_37 +1 known missense c.1550 p.P517L 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 61 0 0.00 52 19 26.76 SLC26A3 0 genome.wustl.edu 37 7 107414599 107414599 + Splice_Site SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 107414599 107414599 C A SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known splice_site c.1774-1 e16-1 1.000 - - - no_errors SLC26A3 HGNC ENSG00000091138 16 0 0.00 27 2 6.90 SLC27A3 0 genome.wustl.edu 37 1 153749682 153749682 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 153749682 153749682 G A SNP SLC27A3 ENST00000368661 human ensembl 74_37 +1 known missense c.1163 p.G388D 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 31 0 0.00 38 4 9.52 SLC36A3 0 genome.wustl.edu 37 5 150656993 150656993 + Silent SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 150656993 150656993 G T SNP SLC36A3 ENST00000377713 human ensembl 74_37 -1 known silent c.1497 p.I499 0.000 NULL pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 53 0 0.00 41 3 6.82 SLC6A20 0 genome.wustl.edu 37 3 45817259 45817259 + Silent SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 45817259 45817259 A G SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known silent c.576 p.T192 0.001 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 32 0 0.00 24 4 14.29 SLC7A14 0 genome.wustl.edu 37 3 170219048 170219048 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 170219048 170219048 C G SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.391 p.V131L 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 29 0 0.00 62 12 16.22 SMG1 0 genome.wustl.edu 37 16 18849424 18849424 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 18849424 18849424 C T SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.7325 p.G2442D 1.000 superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 21 0 0.00 25 3 10.71 SNHG14 0 genome.wustl.edu 37 15 25473974 25473974 + RNA SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 15 25473974 25473974 C A SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors SNHG14 HGNC ENSG00000224078 25 0 0.00 7 4 36.36 SPAST 0 genome.wustl.edu 37 2 32289128 32289128 + Silent SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 32289128 32289128 G T SNP SPAST ENST00000315285 human ensembl 74_37 +1 known silent c.228 p.V76 0.999 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 50 0 0.00 33 22 40.00 SPATA31A6 0 genome.wustl.edu 37 9 43628646 43628646 + Nonsense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 9 43628646 43628646 G T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known nonsense c.296 p.S99* 0.001 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 123 0 0.00 102 45 30.61 SPDYE3 0 genome.wustl.edu 37 7 99917260 99917260 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 99917260 99917260 G A SNP SPDYE3 ENST00000332397 human ensembl 74_37 +1 known silent c.1419 p.K473 0.004 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 159 0 0.00 217 51 19.03 SPHKAP 0 genome.wustl.edu 37 2 228996765 228996765 + Silent SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 228996765 228996765 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.69 p.E23 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 48 0 0.00 19 13 40.62 SPTA1 0 genome.wustl.edu 37 1 158619670 158619670 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 158619670 158619670 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3545 p.A1182D 1.000 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 38 0 0.00 30 4 11.76 SPTBN4 0 genome.wustl.edu 37 19 41029495 41029495 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 41029495 41029495 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.3806 p.G1269D 0.999 pirsf_Spectrin_bsu,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 SPTBN4 HGNC ENSG00000160460 42 0 0.00 26 5 15.62 SPTLC2 0 genome.wustl.edu 37 14 78023490 78023490 + Splice_Site SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 14 78023490 78023490 C T SNP SPTLC2 ENST00000216484 human ensembl 74_37 -1 known splice_site c.851-1 e7-1 1.000 - - - no_errors SPTLC2 HGNC ENSG00000100596 25 0 0.00 29 8 21.62 ST6GAL2 0 genome.wustl.edu 37 2 107450593 107450593 + Missense_Mutation SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 107450593 107450593 T C SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.953 p.D318G 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 24 0 0.00 23 17 42.50 SYT4 0 genome.wustl.edu 37 18 40853827 40853827 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 18 40853827 40853827 G A SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known silent c.567 p.T189 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 39 0 0.00 63 23 26.74 TAAR5 0 genome.wustl.edu 37 6 132910226 132910226 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 132910226 132910226 C A SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known missense c.600 p.W200C 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 28 0 0.00 10 8 44.44 TAAR8 0 genome.wustl.edu 37 6 132874111 132874111 + Nonsense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 132874111 132874111 G T SNP TAAR8 ENST00000275200 human ensembl 74_37 +1 known nonsense c.280 p.E94* 0.869 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TAAR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR8 HGNC ENSG00000146385 76 0 0.00 27 25 48.08 TBC1D21 0 genome.wustl.edu 37 15 74173813 74173813 + Nonsense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 15 74173813 74173813 C A SNP TBC1D21 ENST00000300504 human ensembl 74_37 +1 known nonsense c.134 p.S45* 0.192 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 48 0 0.00 31 4 11.43 TDP2 0 genome.wustl.edu 37 6 24651204 24651204 + Missense_Mutation SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 24651204 24651204 T C SNP TDP2 ENST00000545995 human ensembl 74_37 -1 known missense c.991 p.M331V 0.025 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 20 0 0.00 10 12 54.55 TDRD3 0 genome.wustl.edu 37 13 61103305 61103305 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 13 61103305 61103305 G T SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.1946 p.W649L 1.000 pfam_Tudor,pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 44 0 0.00 38 2 5.00 TEK 0 genome.wustl.edu 37 9 27158010 27158010 + Silent SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 9 27158010 27158010 G T SNP TEK ENST00000380036 human ensembl 74_37 +1 known silent c.234 p.V78 0.903 pfam_Tyr_kin_Tie2_Ig-like_dom-1_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 62 0 0.00 44 4 8.33 THSD7A 0 genome.wustl.edu 37 7 11630185 11630185 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 11630185 11630185 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.1355 p.T452M 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 56 0 0.00 36 8 18.18 THSD7B 0 genome.wustl.edu 37 2 137872828 137872828 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 137872828 137872828 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1334 p.S445N 0.081 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 39 0 0.00 23 12 34.29 THSD7B 0 genome.wustl.edu 37 2 137872829 137872829 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 2 137872829 137872829 C A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1335 p.S445R 0.005 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 38 0 0.00 23 12 34.29 TIMM22 0 genome.wustl.edu 37 17 900388 900388 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 900388 900388 G A SNP TIMM22 ENST00000327158 human ensembl 74_37 +1 known silent c.6 p.A2 1.000 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM22 HGNC ENSG00000177370 10 0 0.00 22 7 24.14 TMEM132A 0 genome.wustl.edu 37 11 60704101 60704101 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 60704101 60704101 G A SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.2797 p.E933K 0.998 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 13 0 0.00 14 3 17.65 TMEM25 0 genome.wustl.edu 37 11 118404171 118404171 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 11 118404171 118404171 G A SNP TMEM25 ENST00000533102 human ensembl 74_37 +1 known missense c.710 p.G237D 1.000 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors TMEM25 HGNC ENSG00000149582 48 0 0.00 33 4 10.81 TMPRSS9 0 genome.wustl.edu 37 19 2418044 2418044 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 2418044 2418044 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.1960 p.D654N 0.995 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 27 0 0.00 24 8 25.00 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 15 0 0.00 2 23 92.00 TPR 0 genome.wustl.edu 37 1 186304481 186304481 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 186304481 186304481 G T SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.4900 p.P1634T 0.999 superfamily_Prefoldin pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 16 0 0.00 19 2 9.52 TPSB2 0 genome.wustl.edu 37 16 1278443 1278443 + RNA SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 1278443 1278443 G C SNP TPSB2 ENST00000606293 human ensembl 74_37 -1 known rna NULL NULL 0.098 - - - no_errors TPSB2 HGNC ENSG00000197253 10 0 0.00 5 5 50.00 TRAPPC9 0 genome.wustl.edu 37 8 141293992 141293992 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 8 141293992 141293992 G T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.2404 p.P802T 1.000 pfam_TRAPP_II_complex_Trs120 pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 30 0 0.00 18 2 10.00 TRERF1 0 genome.wustl.edu 37 6 42236020 42236020 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 6 42236020 42236020 C G SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.1309 p.A437P 0.002 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 21 0 0.00 11 3 21.43 TTC3 0 genome.wustl.edu 37 21 38467699 38467699 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 21 38467699 38467699 G T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.737 p.R246I 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 24 0 0.00 33 2 5.71 TUBB1 0 genome.wustl.edu 37 20 57599009 57599009 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 20 57599009 57599009 C T SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known missense c.527 p.S176L 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 48 0 0.00 42 4 8.70 UVSSA 0 genome.wustl.edu 37 4 1369233 1369233 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 1369233 1369233 C G SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1370 p.P457R 1.000 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 76 0 0.00 65 31 31.96 VPS37B 0 genome.wustl.edu 37 12 123351980 123351980 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 123351980 123351980 G A SNP VPS37B ENST00000267202 human ensembl 74_37 -1 known missense c.541 p.P181S 0.976 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 52 0 0.00 10 42 80.77 VWF 0 genome.wustl.edu 37 12 6167105 6167105 + Nonsense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 12 6167105 6167105 C A SNP VWF ENST00000261405 human ensembl 74_37 -1 known nonsense c.1639 p.E547* 1.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 71 0 0.00 82 5 5.75 WDFY3 0 genome.wustl.edu 37 4 85594028 85594028 + Missense_Mutation SNP T T G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 4 85594028 85594028 T G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.10574 p.N3525T 0.991 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 49 0 0.00 27 18 40.00 WDR52 0 genome.wustl.edu 37 3 113085073 113085073 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 113085073 113085073 G C SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.2528 p.T843S 0.000 superfamily_WD40_repeat_dom 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 ENSG00000206530 48 0 0.00 56 9 13.64 WDR90 0 genome.wustl.edu 37 16 710154 710154 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 710154 710154 C G SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.3281 p.S1094C 0.001 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 49 0 0.00 37 15 28.85 WFIKKN1 0 genome.wustl.edu 37 16 683045 683045 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 683045 683045 G A SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known missense c.635 p.R212H 0.976 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 16 0 0.00 7 5 41.67 YEATS2 0 genome.wustl.edu 37 3 183476656 183476656 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 183476656 183476656 C T SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.1559 p.P520L 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 17 0 0.00 46 11 19.30 ZBED4 0 genome.wustl.edu 37 22 50277614 50277614 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 22 50277614 50277614 G A SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known missense c.304 p.V102M 1.000 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 9 0 0.00 15 5 25.00 ZFR2 0 genome.wustl.edu 37 19 3808898 3808898 + Missense_Mutation SNP C C G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 3808898 3808898 C G SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.2517 p.E839D 1.000 pfam_DZF,smart_DZF pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 22 0 0.00 17 4 19.05 ZMYND10 0 genome.wustl.edu 37 3 50379081 50379081 + Silent SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 3 50379081 50379081 G T SNP ZMYND10 ENST00000231749 human ensembl 74_37 -1 known silent c.1171 p.R391 0.986 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 36 0 0.00 15 2 11.76 ZNF117 0 genome.wustl.edu 37 7 64439388 64439388 + Missense_Mutation SNP A A C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 7 64439388 64439388 A C SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known missense c.561 p.H187Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 48 0 0.00 25 15 37.50 ZNF17 0 genome.wustl.edu 37 19 57932243 57932243 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 57932243 57932243 G T SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known missense c.1383 p.Q461H 0.905 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 ZNF17 HGNC ENSG00000186272 32 0 0.00 39 4 9.30 ZNF222 0 genome.wustl.edu 37 19 44536478 44536478 + Silent SNP A A G TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 44536478 44536478 A G SNP ZNF222 ENST00000391960 human ensembl 74_37 +1 known silent c.771 p.K257 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 ZNF222 HGNC ENSG00000159885 51 0 0.00 31 20 39.22 ZNF233 0 genome.wustl.edu 37 19 44777239 44777239 + Silent SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 44777239 44777239 G A SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known silent c.426 p.Q142 0.006 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 ZNF233 HGNC ENSG00000159915 27 0 0.00 22 15 40.54 ZNF337 0 genome.wustl.edu 37 20 25666286 25666286 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 20 25666286 25666286 G T SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known missense c.167 p.S56Y 0.019 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF337 HGNC ENSG00000130684 41 0 0.00 29 4 12.12 ZNF454 0 genome.wustl.edu 37 5 178373440 178373440 + Silent SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 5 178373440 178373440 G C SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known silent c.114 p.L38 0.885 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 62 0 0.00 38 22 36.67 ZNF469 0 genome.wustl.edu 37 16 88499063 88499063 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 88499063 88499063 C T SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.5101 p.P1701S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 54 0 0.00 47 4 7.84 ZNF471 0 genome.wustl.edu 37 19 57037094 57037094 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 57037094 57037094 G T SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.1658 p.S553I 0.148 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 41 0 0.00 29 2 6.45 ZNF507 0 genome.wustl.edu 37 19 32843902 32843902 + Nonsense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 32843902 32843902 G T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known nonsense c.166 p.E56* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 42 0 0.00 24 3 11.11 ZNF536 0 genome.wustl.edu 37 19 30936483 30936483 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 30936483 30936483 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2014 p.R672C 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 53 0 0.00 39 3 7.14 ZNF540 0 genome.wustl.edu 37 19 38103939 38103939 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 38103939 38103939 G T SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known missense c.1758 p.K586N 0.226 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 40 0 0.00 20 15 42.86 ZNF549 0 genome.wustl.edu 37 19 58046597 58046597 + Missense_Mutation SNP A A T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 58046597 58046597 A T SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.158 p.H53L 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 83 0 0.00 42 35 45.45 ZNF625 0 genome.wustl.edu 37 19 12257038 12257038 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 12257038 12257038 C A SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known missense c.193 p.G65C 0.001 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF625 HGNC ENSG00000257591 56 0 0.00 45 4 8.16 ZNF700 0 genome.wustl.edu 37 19 12060418 12060418 + Nonsense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 12060418 12060418 G T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known nonsense c.1579 p.E527* 0.962 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 44 0 0.00 59 4 6.35 ZNF821 0 genome.wustl.edu 37 16 71894143 71894143 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 16 71894143 71894143 C T SNP ZNF821 ENST00000425432 human ensembl 74_37 -1 known silent c.1017 p.R339 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF821 HGNC ENSG00000102984 41 0 0.00 41 4 8.89 ZNF841 0 genome.wustl.edu 37 19 52570427 52570427 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 19 52570427 52570427 C A SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known missense c.708 p.R236S 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 ZNF841 HGNC ENSG00000197608 70 0 0.00 64 4 5.88 ZSCAN20 0 genome.wustl.edu 37 1 33945122 33945122 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 1 33945122 33945122 G A SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.233 p.R78H 0.935 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 17 0 0.00 9 9 50.00 ZSWIM8 0 genome.wustl.edu 37 10 75557625 75557625 + Missense_Mutation SNP C C A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c02031c-f362-41f1-be08-d7e543439dbf 9fedbd76-aabc-4101-a17e-c1d543e1988c 10 75557625 75557625 C A SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.3749 p.A1250E 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 26 0 0.00 12 2 14.29