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 ABCC4 0 genome.wustl.edu 37 13 95696000 95696000 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 13 95696000 95696000 G A SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.3671 p.A1224V 0.996 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 48 0 0.00 71 4 5.26 ACSS3 0 genome.wustl.edu 37 12 81624851 81624851 + Silent SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 81624851 81624851 T C SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known silent c.1530 p.P510 0.994 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 50 0 0.00 81 41 33.61 ACTA1 0 genome.wustl.edu 37 1 229567918 229567918 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 229567918 229567918 C T SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known missense c.631 p.V211M 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 tier1 - - 40 0 0.00 53 6 10.17 ADAM19 0 genome.wustl.edu 37 5 156908845 156908845 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 156908845 156908845 C A SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.2663 p.G888V 0.001 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 tier1 - - 56 0 0.00 50 9 15.25 ADAMTS18 0 genome.wustl.edu 37 16 77353798 77353798 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 16 77353798 77353798 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2480 p.R827H 0.786 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 rs149031657 - 55 0 0.00 32 11 25.58 ADCY8 0 genome.wustl.edu 37 8 132052045 132052045 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 8 132052045 132052045 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.535 p.R179C 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 39 0 0.00 42 12 21.82 ALAD 0 genome.wustl.edu 37 9 116151931 116151931 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 116151931 116151931 C A SNP ALAD ENST00000409155 human ensembl 74_37 -1 known missense c.662 p.R221L 1.000 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 21 0 0.00 24 3 11.11 ALDH1A2 0 genome.wustl.edu 37 15 58430744 58430744 + RNA SNP A A C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 58430744 58430744 A C SNP ALDH1A2 ENST00000558504 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ALDH1A2 HGNC ENSG00000128918 tier1 - - 21 0 0.00 32 8 20.00 ALG1 0 genome.wustl.edu 37 16 5125388 5125388 + Splice_Site SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 16 5125388 5125388 G A SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known splice_site c.391-1 e4-1 1.000 - - - no_errors ALG1 HGNC ENSG00000033011 tier1 - - 34 0 0.00 33 23 41.07 AMMECR1 0 genome.wustl.edu 37 X 109561058 109561060 + In_Frame_Del DEL CCG CCG - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 109561058 109561060 CCG 0 DEL AMMECR1 ENST00000262844 human ensembl 74_37 -1 known in_frame_del c.242_240 p.G82in_frame_del 1.000:1.000:0.999 NULL pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 15 0 0.00 69 6 8.00 ANKRD36C 0 genome.wustl.edu 37 2 96604645 96604645 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 96604645 96604645 G A SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known missense c.1565 p.T522M 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 tier1 - - 123 0 0.00 185 11 5.61 ANKUB1 0 genome.wustl.edu 37 3 149485656 149485656 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 3 149485656 149485656 G A SNP ANKUB1 ENST00000446160 human ensembl 74_37 -1 known silent c.793 p.L265 0.980 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup - no_errors ANKUB1 HGNC ENSG00000206199 43 0 0.00 53 3 5.36 ANO4 0 genome.wustl.edu 37 12 101505402 101505402 + Silent SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 101505402 101505402 C G SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known silent c.2364 p.V788 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 36 0 0.00 55 10 15.38 APAF1 0 genome.wustl.edu 37 12 99128582 99128582 + RNA SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 99128582 99128582 A G SNP APAF1 ENST00000547666 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors APAF1 HGNC ENSG00000120868 tier1 - - 23 0 0.00 16 24 60.00 ARAP3 0 genome.wustl.edu 37 5 141033939 141033939 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 141033939 141033939 C T SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.4213 p.E1405K 1.000 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 tier1 - - 45 0 0.00 56 14 20.00 ARHGEF39 0 genome.wustl.edu 37 9 35662967 35662967 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 35662967 35662967 G T SNP ARHGEF39 ENST00000378387 human ensembl 74_37 -1 known missense c.649 p.R217S 0.974 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 36 0 0.00 37 2 5.00 ARL5C 0 genome.wustl.edu 37 17 37318973 37318973 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 37318973 37318973 G A SNP ARL5C ENST00000269586 human ensembl 74_37 -1 known silent c.246 p.S82 0.999 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5C HGNC ENSG00000141748 tier1 - - 58 0 0.00 37 24 39.34 ASCC2 0 genome.wustl.edu 37 22 30189408 30189408 + Nonsense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 30189408 30189408 G T SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known nonsense c.1860 p.Y620* 0.986 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 28 0 0.00 28 2 6.67 ATP8B5P 0 genome.wustl.edu 37 9 35451103 35451104 + RNA INS - - A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 35451103 35451104 - A INS ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.651:0.639 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 22 0 0.00 26 4 13.33 ATXN1 0 genome.wustl.edu 37 6 16327921 16327921 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 16327921 16327921 C A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.621 p.Q207H 0.022 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 43 0 0.00 45 3 6.25 AVPR1A 0 genome.wustl.edu 37 12 63541286 63541286 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 63541286 63541286 C A SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.1110 p.K370N 0.116 prints_Vprs_V1A_rcpt pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 tier1 - - 52 0 0.00 54 20 27.03 BAI2 0 genome.wustl.edu 37 1 32222184 32222184 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 32222184 32222184 C T SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.254 p.R85H 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 56 0 0.00 39 11 22.00 BCL9L 0 genome.wustl.edu 37 11 118770824 118770824 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 118770824 118770824 G T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3208 p.P1070T 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 57 0 0.00 32 4 11.11 BMP6 0 genome.wustl.edu 37 6 7845488 7845488 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 7845488 7845488 G T SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.780 p.K260N 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 45 0 0.00 62 4 6.06 C5orf42 0 genome.wustl.edu 37 5 37198846 37198846 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 37198846 37198846 C A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.3630 p.W1210C 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 54 0 0.00 70 4 5.41 C6orf118 0 genome.wustl.edu 37 6 165693522 165693522 + RNA SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 165693522 165693522 G T SNP C6orf118 ENST00000491176 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 30 0 0.00 56 4 6.67 C6orf222 0 genome.wustl.edu 37 6 36290146 36290146 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 36290146 36290146 G T SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known silent c.1545 p.S515 0.713 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 62 0 0.00 66 4 5.71 CACNA1B 0 genome.wustl.edu 37 9 140777281 140777281 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 140777281 140777281 G T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.476 p.G159V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 118 0 0.00 88 5 5.38 CARD10 0 genome.wustl.edu 37 22 37891912 37891912 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 37891912 37891912 C A SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.2158 p.D720Y 0.972 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 34 0 0.00 37 2 5.13 CASZ1 0 genome.wustl.edu 37 1 10707929 10707929 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 10707929 10707929 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.3426 p.S1142 0.560 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 53 0 0.00 67 4 5.63 CCDC103 0 genome.wustl.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 42980014 42980015 AG - DEL CCDC103 ENST00000410006 human ensembl 74_37 +1 known frame_shift_del c.558_559 p.S190fs 0.000:0.999 NULL NULL - no_errors CCDC103 HGNC ENSG00000167131 tier1 36 0 0.00 20 4 16.67 CCDC151 0 genome.wustl.edu 37 19 11537295 11537295 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 11537295 11537295 C G SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.811 p.E271Q 0.849 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 tier1 - - 39 0 0.00 32 8 20.00 CCDC180 0 genome.wustl.edu 37 9 100133895 100133895 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 100133895 100133895 G T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.4639 p.G1547C 0.002 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 45 0 0.00 30 2 6.25 CCDC65 0 genome.wustl.edu 37 12 49298842 49298842 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 49298842 49298842 G C SNP CCDC65 ENST00000266984 human ensembl 74_37 +1 known missense c.246 p.E82D 1.000 NULL NULL - no_errors CCDC65 HGNC ENSG00000139537 tier1 - - 25 0 0.00 37 18 32.73 CDH18 0 genome.wustl.edu 37 5 19721493 19721493 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 19721493 19721493 G T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known silent c.606 p.L202 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 66 0 0.00 68 4 5.56 CDHR3 0 genome.wustl.edu 37 7 105603730 105603730 + RNA SNP T T A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 105603730 105603730 T A SNP CDHR3 ENST00000461766 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDHR3 HGNC ENSG00000128536 tier1 - - 42 0 0.00 24 11 31.43 CEP250 0 genome.wustl.edu 37 20 34084539 34084539 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 34084539 34084539 G T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.3301 p.A1101S 0.931 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 48 0 0.00 71 4 5.33 CHMP1A 0 genome.wustl.edu 37 16 89720321 89720321 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 16 89720321 89720321 G T SNP CHMP1A ENST00000397901 human ensembl 74_37 -1 known missense c.18 p.F6L 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP1A HGNC ENSG00000131165 tier1 - - 51 0 0.00 57 6 9.52 CHPF 0 genome.wustl.edu 37 2 220404553 220404553 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 220404553 220404553 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.1880 p.R627H 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 18 0 0.00 16 4 20.00 CLCNKA 0 genome.wustl.edu 37 1 16360282 16360282 + RNA SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 16360282 16360282 G T SNP CLCNKA ENST00000464764 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CLCNKA HGNC ENSG00000186510 tier1 - - 30 0 0.00 39 4 9.30 CNST 0 genome.wustl.edu 37 1 246811175 246811175 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 246811175 246811175 G C SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.1672 p.D558H 0.761 NULL NULL - no_errors CNST HGNC ENSG00000162852 tier1 - - 17 0 0.00 21 6 22.22 CNTLN 0 genome.wustl.edu 37 9 17236494 17236494 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 17236494 17236494 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.757 p.R253C 0.541 superfamily_Prefoldin superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 31 0 0.00 13 2 13.33 CNTNAP2 0 genome.wustl.edu 37 7 148114542 148114542 + RNA SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 148114542 148114542 T C SNP CNTNAP2 ENST00000463592 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 19 0 0.00 41 18 30.51 COL6A3 0 genome.wustl.edu 37 2 238232763 238232763 + RNA SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 238232763 238232763 C A SNP COL6A3 ENST00000473258 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 65 0 0.00 89 8 8.25 CPSF6 0 genome.wustl.edu 37 12 69656329 69656329 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 69656329 69656329 G T SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known missense c.1757 p.R586L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 41 0 0.00 25 3 10.71 CR2 0 genome.wustl.edu 37 1 207639910 207639910 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 207639910 207639910 G A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.98 p.R33Q 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 tier1 - - 47 0 0.00 89 18 16.82 CREBBP 0 genome.wustl.edu 37 16 3820668 3820668 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 16 3820668 3820668 G T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.2783 p.P928Q 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 35 0 0.00 53 4 7.02 CRYBG3 0 genome.wustl.edu 37 3 97599990 97599990 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 3 97599990 97599990 G T SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.1235 p.R412L 0.593 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 28 0 0.00 47 4 7.84 CUX2 0 genome.wustl.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 111758235 111758237 TCC - DEL CUX2 ENST00000261726 human ensembl 74_37 +1 known in_frame_del c.2422_2424 p.S811in_frame_del 1.000:1.000:1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 18 0 0.00 20 4 16.67 CXCR4 0 genome.wustl.edu 37 2 136873012 136873012 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 136873012 136873012 G C SNP CXCR4 ENST00000409817 human ensembl 74_37 -1 known missense c.498 p.I166M 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N_dom,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 tier1 - - 27 0 0.00 21 15 41.67 CYFIP2 0 genome.wustl.edu 37 5 156727761 156727761 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 156727761 156727761 G T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.426 p.R142 0.122 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 21 0 0.00 29 3 9.38 DAXX 0 genome.wustl.edu 37 6 33286968 33286968 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 33286968 33286968 C G SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.1969 p.E657Q 0.000 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 tier1 - - 27 0 0.00 39 4 9.30 DCAF13 0 genome.wustl.edu 37 8 104439377 104439377 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 8 104439377 104439377 G A SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.977 p.C326Y 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 - - 49 0 0.00 81 23 22.12 DHX8 0 genome.wustl.edu 37 17 41582146 41582146 + Nonsense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 41582146 41582146 C T SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known nonsense c.1681 p.Q561* 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 tier1 - - 46 0 0.00 30 25 44.64 DIP2A 0 genome.wustl.edu 37 21 47954536 47954536 + Silent SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 21 47954536 47954536 A G SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.1581 p.T527 0.029 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 54 0 0.00 37 4 9.76 DMXL1 0 genome.wustl.edu 37 5 118484613 118484613 + Nonsense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 118484613 118484613 G T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known nonsense c.3091 p.E1031* 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 17 0 0.00 35 2 5.41 DNAH5 0 genome.wustl.edu 37 5 13810233 13810233 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 13810233 13810233 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7544 p.T2515M 0.000 NULL 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 DNAH5 HGNC ENSG00000039139 tier1 - - 40 0 0.00 41 15 26.79 DST 0 genome.wustl.edu 37 6 56480403 56480403 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 56480403 56480403 G T SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.7862 p.A2621D 0.997 smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 tier1 - - 49 0 0.00 79 5 5.95 DST 0 genome.wustl.edu 37 6 56417998 56417998 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 56417998 56417998 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.15499 p.P5167S 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 44 0 0.00 70 4 5.41 EIF2AK1 0 genome.wustl.edu 37 7 6066493 6066493 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 6066493 6066493 G T SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known missense c.1630 p.Q544K 0.472 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK1 HGNC ENSG00000086232 tier1 - - 35 0 0.00 54 4 6.90 EIF4ENIF1 0 genome.wustl.edu 37 22 31836038 31836038 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 31836038 31836038 G A SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.2786 p.P929L 0.997 NULL pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 tier1 - - 35 0 0.00 30 22 42.31 ENSG00000167765 0 genome.wustl.edu 37 19 52097516 52097516 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 52097516 52097516 G A SNP ENSG00000167765 ENST00000301439 human ensembl 74_37 -1 known missense c.59 p.A20V 0.002 NULL NULL - no_errors AC018755.1 Clone_based_ensembl_gene ENSG00000167765 66 0 0.00 74 4 5.13 ENSG00000221060 0 genome.wustl.edu 37 14 70270921 70270922 + RNA INS - - T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 70270921 70270922 - T INS ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 tier1 20 0 0.00 34 5 12.82 ENSG00000223579 0 genome.wustl.edu 37 22 20639449 20639450 + RNA INS - - TA TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 20639449 20639450 0 TA INS ENSG00000223579 ENST00000577456 human ensembl 74_37 -1 known rna NULL NULL 0.984:0.986 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 13 0 0.00 9 4 30.77 ENSG00000225241 0 genome.wustl.edu 37 1 144615246 144615247 + RNA INS - - AG TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 144615246 144615247 - AG INS ENSG00000225241 ENST00000421407 human ensembl 74_37 +1 known rna NULL NULL 0.030:0.047 - - - no_errors RP11-640M9.2 Clone_based_vega_gene ENSG00000225241 tier1 19 0 0.00 29 7 19.44 ENSG00000244050 0 genome.wustl.edu 37 12 8359249 8359249 + RNA SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 8359249 8359249 G T SNP ENSG00000244050 ENST00000542600 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors RP11-266K4.1 Clone_based_vega_gene ENSG00000244050 tier1 - - 173 0 0.00 285 22 7.17 ENSG00000255686 0 genome.wustl.edu 37 12 117890935 117890935 + RNA SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 117890935 117890935 C T SNP ENSG00000255686 ENST00000540161 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors RP11-227B21.2 Clone_based_vega_gene ENSG00000255686 tier1 - - 25 0 0.00 27 4 12.90 ENSG00000257931 0 genome.wustl.edu 37 14 19969402 19969402 + RNA DEL T T - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 19969402 19969402 T - DEL ENSG00000257931 ENST00000547399 human ensembl 74_37 -1 known rna NULL NULL 0.163 - - - no_errors CTD-2311B13.7 Clone_based_vega_gene ENSG00000257931 tier1 27 0 0.00 45 15 25.00 ENSG00000258443 0 genome.wustl.edu 37 14 73987345 73987345 + RNA SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 73987345 73987345 A G SNP ENSG00000258443 ENST00000553394 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-414A15.11 Clone_based_vega_gene ENSG00000258443 tier1 - - 21 0 0.00 11 9 45.00 ENSG00000259648 0 genome.wustl.edu 37 14 68083198 68083198 + RNA DEL A A - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 68083198 68083198 A - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 tier1 12 0 0.00 27 4 12.90 ENTHD1 0 genome.wustl.edu 37 22 40140021 40140021 + Missense_Mutation SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 40140021 40140021 T C SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1487 p.N496S 0.000 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 21 0 0.00 62 14 18.42 ENTPD5 0 genome.wustl.edu 37 14 74440671 74440671 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 74440671 74440671 C T SNP ENTPD5 ENST00000334696 human ensembl 74_37 -1 known silent c.795 p.G265 0.998 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 33 0 0.00 66 4 5.71 EP300 0 genome.wustl.edu 37 22 41558785 41558785 + Splice_Site DEL T T - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 41558785 41558785 T - DEL EP300 ENST00000263253 human ensembl 74_37 +1 known splice_site_del c.3728+2 e21+2 1.000 - - - no_errors EP300 HGNC ENSG00000100393 tier1 44 0 0.00 30 12 28.57 EP300 0 genome.wustl.edu 37 22 41558785 41558785 + Splice_Site SNP T T A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 41558785 41558785 T A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known splice_site c.3728+2 e21+2 1.000 - - - no_errors EP300 HGNC ENSG00000100393 44 0 0.00 17 13 30.95 EP400 0 genome.wustl.edu 37 12 132547096 132547096 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 132547096 132547096 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8292 p.Q2764 0.957 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 rs74479394 - 50 0 0.00 41 5 10.87 EPB41L2 0 genome.wustl.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 131191073 131191075 CTG - DEL EPB41L2 ENST00000337057 human ensembl 74_37 -1 known in_frame_del c.2237_2235 p.S746in_frame_del 1.000:1.000:1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 tier1 12 0 0.00 8 3 27.27 FAM46D 0 genome.wustl.edu 37 X 79698376 79698376 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 79698376 79698376 C A SNP FAM46D ENST00000308293 human ensembl 74_37 +1 known missense c.338 p.P113Q 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 tier1 - - 9 0 0.00 7 38 84.44 FAM91A1 0 genome.wustl.edu 37 8 124790938 124790938 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 8 124790938 124790938 A G SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.475 p.I159V 0.008 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 tier1 - - 68 0 0.00 138 25 15.24 FAT3 0 genome.wustl.edu 37 11 92532036 92532036 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 92532036 92532036 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5857 p.L1953M 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 25 0 0.00 10 14 58.33 FBN2 0 genome.wustl.edu 37 5 127866299 127866299 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 127866299 127866299 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.425 p.G142E 1.000 pirsf_FBN pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 45 0 0.00 39 10 20.41 FKBPL 0 genome.wustl.edu 37 6 32097535 32097535 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 32097535 32097535 G T SNP FKBPL ENST00000375156 human ensembl 74_37 -1 known missense c.23 p.T8K 0.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 tier1 - - 37 0 0.00 65 4 5.80 FLOT2 0 genome.wustl.edu 37 17 27210170 27210170 + Frame_Shift_Del DEL T T - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 27210170 27210170 T - DEL FLOT2 ENST00000394908 human ensembl 74_37 -1 known frame_shift_del c.302 p.N101fs 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 tier1 42 0 0.00 37 2 5.13 FOCAD 0 genome.wustl.edu 37 9 20951011 20951011 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 20951011 20951011 G T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.3965 p.G1322V 1.000 pfam_DUF3028,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 tier1 - - 76 0 0.00 68 4 5.56 FOXF2 0 genome.wustl.edu 37 6 1390978 1390980 + In_Frame_Del DEL CAC CAC - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 1390978 1390980 CAC - DEL FOXF2 ENST00000259806 human ensembl 74_37 +1 known in_frame_del c.796_798 p.H269in_frame_del 0.969:0.975:0.979 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF2 HGNC ENSG00000137273 tier1 16 0 0.00 19 4 17.39 FSIP2 0 genome.wustl.edu 37 2 186655921 186655921 + Missense_Mutation SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 186655921 186655921 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.4325 p.L1442S 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 11 0 0.00 30 24 44.44 GCM1 0 genome.wustl.edu 37 6 52993048 52993048 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 52993048 52993048 G T SNP GCM1 ENST00000259803 human ensembl 74_37 -1 known missense c.1267 p.H423N 0.787 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 25 0 0.00 31 3 8.82 GGT3P 0 genome.wustl.edu 37 22 18769843 18769843 + RNA SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 18769843 18769843 T C SNP GGT3P ENST00000412448 human ensembl 74_37 -1 known rna NULL NULL 0.856 - - - no_errors GGT3P HGNC ENSG00000197421 46 0 0.00 68 4 5.56 GNA12 0 genome.wustl.edu 37 7 2770886 2770886 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 2770886 2770886 C T SNP GNA12 ENST00000275364 human ensembl 74_37 -1 known missense c.1075 p.V359I 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA12 HGNC ENSG00000146535 tier1 - - 35 0 0.00 67 4 5.63 GNAS 0 genome.wustl.edu 37 20 57467171 57467171 + RNA SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 57467171 57467171 G C SNP GNAS ENST00000476935 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors GNAS HGNC ENSG00000087460 tier1 - - 33 0 0.00 19 15 44.12 GNB5 0 genome.wustl.edu 37 15 52425597 52425597 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 52425597 52425597 C T SNP GNB5 ENST00000261837 human ensembl 74_37 -1 known missense c.841 p.E281K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC ENSG00000069966 tier1 - - 59 0 0.00 29 30 50.85 GPR135 0 genome.wustl.edu 37 14 59930820 59930820 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 59930820 59930820 C T SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known silent c.1125 p.L375 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 tier1 - - 69 0 0.00 78 5 6.02 GPRASP2 0 genome.wustl.edu 37 X 101970762 101970762 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 101970762 101970762 G T SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.965 p.R322I 0.832 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 tier1 - - 36 0 0.00 67 4 5.63 GRIN3A 0 genome.wustl.edu 37 9 104499884 104499884 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 104499884 104499884 G A SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known silent c.378 p.D126 0.601 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 24 0 0.00 15 6 28.57 HFM1 0 genome.wustl.edu 37 1 91727919 91727919 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 91727919 91727919 G A SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known silent c.4117 p.L1373 0.639 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 90 0 0.00 103 47 31.33 HIC1 0 genome.wustl.edu 37 17 1961209 1961209 + Nonsense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 1961209 1961209 G T SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known nonsense c.1282 p.E428* 0.994 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 53 0 0.00 64 4 5.88 HIST1H1C 0 genome.wustl.edu 37 6 26056024 26056024 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 26056024 26056024 C T SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known silent c.633 p.K211 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 tier1 - - 52 0 0.00 23 17 42.50 HIST1H2AB 0 genome.wustl.edu 37 6 26033433 26033433 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 26033433 26033433 C T SNP HIST1H2AB ENST00000259791 human ensembl 74_37 -1 known missense c.364 p.E122K 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC ENSG00000137259 tier1 - - 68 0 0.00 84 5 5.62 HIVEP2 0 genome.wustl.edu 37 6 143081380 143081380 + Silent SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 143081380 143081380 T C SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.6045 p.R2015 0.878 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 23 0 0.00 21 22 51.16 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 51 0 0.00 54 3 5.26 ICAM5 0 genome.wustl.edu 37 19 10403825 10403825 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 10403825 10403825 G A SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known silent c.1368 p.L456 0.932 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 56 0 0.00 66 4 5.71 IGF1R 0 genome.wustl.edu 37 15 99250893 99250893 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 99250893 99250893 A G SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.197 p.K66R 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L 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 IGF1R HGNC ENSG00000140443 tier1 - - 53 0 0.00 37 4 9.76 INO80 0 genome.wustl.edu 37 15 41362726 41362726 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 41362726 41362726 G A SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.1625 p.A542V 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 tier1 - - 64 0 0.00 66 4 5.71 INPP5J 0 genome.wustl.edu 37 22 31521386 31521386 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 31521386 31521386 G A SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known missense c.661 p.A221T 0.038 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 tier1 - - 68 0 0.00 59 4 6.35 ISLR 0 genome.wustl.edu 37 15 74467244 74467244 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 74467244 74467244 G T SNP ISLR ENST00000249842 human ensembl 74_37 +1 known silent c.45 p.L15 0.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 34 0 0.00 37 2 5.13 KATNBL1P6 0 genome.wustl.edu 37 6 147123946 147123946 + RNA SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 147123946 147123946 T C SNP KATNBL1P6 ENST00000562413 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KATNBL1P6 HGNC ENSG00000228283 tier1 - - 82 0 0.00 92 71 43.56 KCNE1L 0 genome.wustl.edu 37 X 108868055 108868055 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 108868055 108868055 G T SNP KCNE1L ENST00000372101 human ensembl 74_37 -1 known silent c.195 p.L65 1.000 NULL NULL - no_errors KCNE1L HGNC ENSG00000176076 17 0 0.00 37 4 9.76 KDM2A 0 genome.wustl.edu 37 11 67023792 67023792 + RNA SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 67023792 67023792 C G SNP KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 - - 24 0 0.00 40 19 32.20 KDM5C 0 genome.wustl.edu 37 X 53223826 53223826 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 53223826 53223826 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.3533 p.S1178L 0.005 superfamily_Znf_FYVE_PHD pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 tier1 - - 44 0 0.00 19 21 52.50 KIAA0825 0 genome.wustl.edu 37 5 93798218 93798218 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 93798218 93798218 G A SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known missense c.2120 p.T707I 0.895 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 20 0 0.00 53 4 7.02 KLHL4 0 genome.wustl.edu 37 X 86873036 86873036 + Nonsense_Mutation SNP A A T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 86873036 86873036 A T SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known nonsense c.829 p.K277* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 tier1 - - 23 0 0.00 47 19 28.36 KLK11 0 genome.wustl.edu 37 19 51527571 51527571 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 51527571 51527571 G T SNP KLK11 ENST00000391804 human ensembl 74_37 -1 known missense c.268 p.L90I 0.569 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK11 HGNC ENSG00000167757 40 0 0.00 69 4 5.48 KMT2D 0 genome.wustl.edu 37 12 49431850 49431850 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 49431850 49431850 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.9289 p.E3097K 0.997 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 101 0 0.00 127 7 5.19 KRT77 0 genome.wustl.edu 37 12 53086350 53086350 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 53086350 53086350 G T SNP KRT77 ENST00000341809 human ensembl 74_37 -1 known missense c.1282 p.L428M 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT77 HGNC ENSG00000189182 tier1 - - 36 0 0.00 22 15 40.54 KSR1 0 genome.wustl.edu 37 17 25931751 25931751 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 25931751 25931751 G T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known silent c.1677 p.A559 0.005 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 tier1 - - 56 0 0.00 74 5 6.33 LINC00238 0 genome.wustl.edu 37 14 66959557 66959557 + RNA SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 66959557 66959557 C G SNP LINC00238 ENST00000411796 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00238 HGNC ENSG00000196553 tier1 - - 39 0 0.00 43 19 30.65 LINC00272 0 genome.wustl.edu 37 1 182377037 182377037 + RNA SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 182377037 182377037 G T SNP LINC00272 ENST00000367563 human ensembl 74_37 +1 known rna NULL NULL 0.523 - - - no_errors LINC00272 HGNC ENSG00000203729 33 0 0.00 63 4 5.97 LOC100506469 0 genome.wustl.edu 37 19 36033799 36033799 + RNA SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 36033799 36033799 G A SNP LOC100506469 ENST00000588286 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 tier1 - - 36 0 0.00 37 4 9.76 LOC100507377 0 genome.wustl.edu 37 12 74686447 74686447 + RNA DEL G G - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 74686447 74686447 G - DEL LOC100507377 ENST00000548427 human ensembl 74_37 -1 known rna NULL NULL 0.190 - - - no_errors RP11-81H3.2 Clone_based_vega_gene ENSG00000251138 tier1 20 0 0.00 12 5 29.41 LOC101929676 0 genome.wustl.edu 37 4 119552234 119552234 + RNA SNP A A C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 4 119552234 119552234 A C SNP LOC101929676 ENST00000567913 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 37 0 0.00 39 4 9.30 LOC645752 0 genome.wustl.edu 37 15 78208199 78208199 + RNA SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 78208199 78208199 C T SNP LOC645752 ENST00000563349 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 - - 125 0 0.00 111 9 7.50 LPGAT1 0 genome.wustl.edu 37 1 211956837 211956837 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 211956837 211956837 G C SNP LPGAT1 ENST00000366997 human ensembl 74_37 -1 known missense c.461 p.S154C 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPGAT1 HGNC ENSG00000123684 tier1 - - 22 0 0.00 36 11 23.40 LPIN3 0 genome.wustl.edu 37 20 39986953 39986953 + Nonsense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 39986953 39986953 G T SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known nonsense c.2269 p.G757* 0.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 27 0 0.00 45 4 8.16 LPPR1 0 genome.wustl.edu 37 9 104071531 104071531 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 104071531 104071531 G T SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known missense c.424 p.V142L 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 37 0 0.00 51 4 7.27 LRRC37A3 0 genome.wustl.edu 37 17 62855652 62855652 + Missense_Mutation SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 62855652 62855652 T C SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.4612 p.K1538E 0.006 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 152 0 0.00 196 14 6.67 LRRC4B 0 genome.wustl.edu 37 19 51021262 51021262 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 51021262 51021262 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1708 p.D570N 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 tier1 - - 10 0 0.00 6 4 40.00 LRRIQ1 0 genome.wustl.edu 37 12 85638645 85638646 + Frame_Shift_Ins INS - - A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 85638645 85638646 - A INS LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_ins c.5095_5096 p.N1702fs 1.000:1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 30 0 0.00 37 5 11.90 LSM14B 0 genome.wustl.edu 37 20 60704986 60704986 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 60704986 60704986 G A SNP LSM14B ENST00000279068 human ensembl 74_37 +1 known silent c.573 p.Q191 0.983 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 56 0 0.00 73 4 5.13 MALAT1 0 genome.wustl.edu 37 11 65273214 65273214 + RNA SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 65273214 65273214 G C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 31 0 0.00 60 7 10.45 MALAT1 0 genome.wustl.edu 37 11 65270090 65270090 + RNA SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 65270090 65270090 C A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.929 - - - no_errors MALAT1 HGNC ENSG00000251562 20 0 0.00 66 7 9.33 MALAT1 0 genome.wustl.edu 37 11 65270091 65270091 + RNA SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 65270091 65270091 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 8 0 0.00 46 8 8.16 MED13 0 genome.wustl.edu 37 17 60059880 60059880 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 60059880 60059880 G A SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.3484 p.R1162C 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 24 0 0.00 28 2 6.67 MEF2A 0 genome.wustl.edu 37 15 100252738 100252739 + Frame_Shift_Del DEL AG AG - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 100252738 100252739 AG - DEL MEF2A ENST00000338042 human ensembl 74_37 +1 known frame_shift_del c.1283_1284 p.Q428fs 0.928:0.862 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 tier1 51 0 0.00 49 5 9.26 MIA3 0 genome.wustl.edu 37 1 222791507 222791507 + Silent SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 222791507 222791507 C A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known silent c.55 p.R19 0.001 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 - - 10 0 0.00 4 6 60.00 MIR3125 0 genome.wustl.edu 37 2 12877501 12877501 + RNA SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 12877501 12877501 G A SNP MIR3125 ENST00000579927 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR3125 HGNC ENSG00000264370 70 0 0.00 95 8 7.77 MOCS2 0 genome.wustl.edu 37 5 52396306 52396306 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 52396306 52396306 C T SNP MOCS2 ENST00000396954 human ensembl 74_37 -1 known missense c.436 p.A146T 1.000 pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE - no_errors MOCS2 HGNC ENSG00000164172 tier1 - - 36 0 0.00 60 4 6.25 MORF4L1 0 genome.wustl.edu 37 15 79189830 79189830 + RNA SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 79189830 79189830 G T SNP MORF4L1 ENST00000561171 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MORF4L1 HGNC ENSG00000185787 tier1 - - 35 0 0.00 56 5 8.20 MTHFR 0 genome.wustl.edu 37 1 11861267 11861267 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 11861267 11861267 C T SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known silent c.549 p.L183 1.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 24 0 0.00 34 2 5.56 MYADML 0 genome.wustl.edu 37 2 33951529 33951530 + RNA INS - - T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 33951529 33951530 - T INS MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.004 - - - no_errors MYADML HGNC ENSG00000239649 tier1 15 0 0.00 20 12 37.50 MYCBP2 0 genome.wustl.edu 37 13 77641876 77641876 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 13 77641876 77641876 C G SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.12295 p.D4099H 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 50 0 0.00 22 52 70.27 MYOD1 0 genome.wustl.edu 37 11 17741729 17741729 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 17741729 17741729 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known missense c.400 p.R134C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 tier1 - - 55 0 0.00 31 4 11.43 NAALAD2 0 genome.wustl.edu 37 11 89882266 89882266 + Silent SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 89882266 89882266 C A SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known silent c.474 p.G158 0.482 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 tier1 - - 117 0 0.00 59 81 57.86 NAP1L4 0 genome.wustl.edu 37 11 2981115 2981115 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 2981115 2981115 C T SNP NAP1L4 ENST00000380542 human ensembl 74_37 -1 known missense c.631 p.E211K 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L4 HGNC ENSG00000205531 tier1 - - 63 0 0.00 29 51 63.75 NBEAL1 0 genome.wustl.edu 37 2 204053201 204053201 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 204053201 204053201 G C SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.6625 p.E2209Q 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 tier1 - - 48 0 0.00 69 20 22.47 NCAPG 0 genome.wustl.edu 37 4 17839321 17839321 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 4 17839321 17839321 C T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.2363 p.S788F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 36 0 0.00 37 2 5.13 NCOA3 0 genome.wustl.edu 37 20 46279857 46279857 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 46279857 46279857 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3783 p.Q1261 0.971 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 46 0 0.00 84 5 5.62 NEFM 0 genome.wustl.edu 37 8 24771823 24771823 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 8 24771823 24771823 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.517 p.L173 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 tier1 - - 62 0 0.00 65 4 5.80 NELFE 0 genome.wustl.edu 37 6 31922591 31922591 + Silent SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 31922591 31922591 A G SNP NELFE ENST00000375429 human ensembl 74_37 -1 known silent c.483 p.G161 0.508 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 22 0 0.00 29 4 12.12 NLRP1 0 genome.wustl.edu 37 17 5418260 5418260 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 5418260 5418260 C G SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.4236 p.Q1412H 0.951 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 tier1 - - 38 0 0.00 27 15 35.71 NME7 0 genome.wustl.edu 37 1 169292492 169292493 + Frame_Shift_Ins INS - - A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 169292492 169292493 - A INS NME7 ENST00000367811 human ensembl 74_37 -1 known frame_shift_ins c.141_140 p.L47fs 0.998:1.000 smart_Uncharacterised_DM10,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 tier1 32 0 0.00 37 6 13.95 NOP58 0 genome.wustl.edu 37 2 203149089 203149089 + Missense_Mutation SNP A A T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 203149089 203149089 A T SNP NOP58 ENST00000264279 human ensembl 74_37 +1 known missense c.319 p.I107F 1.000 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 tier1 - - 46 0 0.00 70 25 26.32 NPR3 0 genome.wustl.edu 37 5 32739001 32739001 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 32739001 32739001 C T SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known silent c.924 p.H308 0.946 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 33 0 0.00 47 3 6.00 NRDE2 0 genome.wustl.edu 37 14 90778760 90778760 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 90778760 90778760 G T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.535 p.L179I 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 36 0 0.00 45 4 8.16 NUP107 0 genome.wustl.edu 37 12 69126365 69126365 + RNA SNP T T A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 69126365 69126365 T A SNP NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 tier1 - - 43 0 0.00 68 6 8.11 NUP153 0 genome.wustl.edu 37 6 17706534 17706534 + Missense_Mutation SNP A A C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 17706534 17706534 A C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.85 p.Y29D 1.000 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 tier1 - - 123 0 0.00 66 58 46.77 NYAP2 0 genome.wustl.edu 37 2 226447460 226447460 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 226447460 226447460 G C SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1327 p.G443R 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 67 0 0.00 41 33 44.59 NYNRIN 0 genome.wustl.edu 37 14 24880348 24880348 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 24880348 24880348 G T SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known silent c.2481 p.R827 0.936 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 tier1 - - 50 0 0.00 30 4 11.76 OPTN 0 genome.wustl.edu 37 10 13164403 13164403 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 10 13164403 13164403 G C SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.798 p.K266N 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 tier1 - - 76 0 0.00 87 6 6.45 OVCA2 0 genome.wustl.edu 37 17 1945944 1945944 + Missense_Mutation SNP A A T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 1945944 1945944 A T SNP OVCA2 ENST00000572195 human ensembl 74_37 +1 known missense c.230 p.E77V 0.152 pfam_Serine_hydrolase_FSH pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase - no_errors OVCA2 HGNC ENSG00000262664 tier1 - - 28 0 0.00 27 14 34.15 PAXBP1 0 genome.wustl.edu 37 21 34134551 34134551 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 21 34134551 34134551 G T SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known missense c.727 p.P243T 0.992 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 23 0 0.00 51 4 7.27 PCDHA9 0 genome.wustl.edu 37 5 140230375 140230375 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 140230375 140230375 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.2295 p.Q765 0.240 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 81 0 0.00 48 42 46.67 PCDHB3 0 genome.wustl.edu 37 5 140481751 140481751 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 140481751 140481751 C G SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1518 p.I506M 0.969 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 PCDHB3 HGNC ENSG00000113205 tier1 - - 257 0 0.00 191 58 23.29 PCDHGC5 0 genome.wustl.edu 37 5 140870755 140870755 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 140870755 140870755 G T SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.1948 p.D650Y 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 PCDHGC5 HGNC ENSG00000240764 tier1 - - 41 0 0.00 22 5 18.52 PCLO 0 genome.wustl.edu 37 7 82583637 82583637 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 82583637 82583637 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6632 p.T2211I 0.987 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 18 0 0.00 33 2 5.71 PDZD2 0 genome.wustl.edu 37 5 32037378 32037378 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 32037378 32037378 G T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.1449 p.E483D 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 40 0 0.00 38 2 5.00 PDZD7 0 genome.wustl.edu 37 10 102778670 102778670 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 10 102778670 102778670 C T SNP PDZD7 ENST00000370215 human ensembl 74_37 -1 known silent c.1233 p.A411 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 tier1 - - 44 0 0.00 28 8 22.22 PDZK1 0 genome.wustl.edu 37 1 145752451 145752451 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 145752451 145752451 G C SNP PDZK1 ENST00000344770 human ensembl 74_37 +1 known missense c.484 p.D162H 0.021 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC ENSG00000174827 tier1 - - 122 0 0.00 130 62 32.29 PLEC 0 genome.wustl.edu 37 8 144996545 144996545 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 8 144996545 144996545 C G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7855 p.E2619Q 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 45 0 0.00 35 14 28.57 PLEC 0 genome.wustl.edu 37 8 144996723 144996723 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 8 144996723 144996723 C G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7785 p.E2595D 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 65 0 0.00 69 28 28.87 POMZP3 0 genome.wustl.edu 37 7 76254993 76254993 + Nonsense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 76254993 76254993 G A SNP POMZP3 ENST00000310842 human ensembl 74_37 -1 known nonsense c.73 p.Q25* 0.116 NULL pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 tier1 - - 95 0 0.00 107 46 29.49 PPARGC1A 0 genome.wustl.edu 37 4 23816165 23816165 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 4 23816165 23816165 G T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.941 p.P314Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 40 0 0.00 37 2 5.13 PRDM9 0 genome.wustl.edu 37 5 23527626 23527626 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 23527626 23527626 G T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.2429 p.G810V 0.904 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 tier1 - - 87 0 0.00 52 28 34.57 PRKAA1 0 genome.wustl.edu 37 5 40775593 40775593 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 5 40775593 40775593 G A SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known silent c.282 p.I94 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,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 24 0 0.00 41 3 6.82 PROM2 0 genome.wustl.edu 37 2 95943752 95943752 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 95943752 95943752 G T SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.1050 p.E350D 1.000 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 57 0 0.00 85 5 5.56 PTH2 0 genome.wustl.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 49926533 49926533 G C SNP PTH2 ENST00000270631 human ensembl 74_37 -1 known missense c.64 p.L22V 0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 tier1 rs200733272 - 88 0 0.00 91 5 5.15 PTPN9 0 genome.wustl.edu 37 15 75809693 75809693 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 75809693 75809693 C T SNP PTPN9 ENST00000306726 human ensembl 74_37 -1 known silent c.435 p.Q145 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 tier1 - - 42 0 0.00 34 30 46.88 PTPRK 0 genome.wustl.edu 37 6 128383359 128383359 + RNA DEL T T - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 128383359 128383359 T - DEL PTPRK ENST00000434424 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors PTPRK HGNC ENSG00000152894 tier1 18 0 0.00 14 2 12.50 RAPGEF5 0 genome.wustl.edu 37 7 22233043 22233043 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 22233043 22233043 C T SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known silent c.687 p.K229 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 tier1 - - 31 0 0.00 24 12 32.43 REPS2 0 genome.wustl.edu 37 X 17165604 17165605 + Frame_Shift_Ins INS - - C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 17165604 17165605 - C INS REPS2 ENST00000357277 human ensembl 74_37 +1 known frame_shift_ins c.1983_1984 p.*661fs 1.000:0.910 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 tier1 23 0 0.00 19 29 60.42 RFX3 0 genome.wustl.edu 37 9 3293163 3293163 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 3293163 3293163 G T SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known missense c.645 p.H215Q 1.000 pfam_DNA-bd_RFX pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 tier1 - - 87 0 0.00 74 4 5.13 RFX7 0 genome.wustl.edu 37 15 56386365 56386365 + Silent SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 56386365 56386365 A G SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known silent c.3561 p.N1187 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 22 0 0.00 12 18 60.00 RMND1 0 genome.wustl.edu 37 6 151766902 151766902 + Missense_Mutation SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 151766902 151766902 T C SNP RMND1 ENST00000367303 human ensembl 74_37 -1 known missense c.45 p.I15M 0.106 NULL pfam_DUF155 - no_errors RMND1 HGNC ENSG00000155906 tier1 - - 21 0 0.00 37 7 15.91 RNF111 0 genome.wustl.edu 37 15 59373162 59373162 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 59373162 59373162 A G SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.1976 p.H659R 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 45 0 0.00 30 19 38.00 RPF1 0 genome.wustl.edu 37 1 84961936 84961936 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 84961936 84961936 C T SNP RPF1 ENST00000370654 human ensembl 74_37 +1 known silent c.891 p.F297 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF1 HGNC ENSG00000117133 tier1 - - 14 0 0.00 15 26 63.41 RPL23AP53 0 genome.wustl.edu 37 8 163319 163319 + RNA SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 8 163319 163319 C G SNP RPL23AP53 ENST00000606975 human ensembl 74_37 -1 known rna NULL NULL 0.793 - - - no_errors RPL23AP53 HGNC ENSG00000223508 tier1 - - 50 0 0.00 56 12 17.65 RUSC2 0 genome.wustl.edu 37 9 35561273 35561273 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 35561273 35561273 G C SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.4445 p.G1482A 0.413 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 tier1 - - 57 0 0.00 17 31 64.58 SEC16B 0 genome.wustl.edu 37 1 177913774 177913774 + Silent SNP A A C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 177913774 177913774 A C SNP SEC16B ENST00000308284 human ensembl 74_37 -1 known silent c.1803 p.T601 0.042 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 tier1 - - 44 0 0.00 80 17 17.53 SEC31A 0 genome.wustl.edu 37 4 83799895 83799895 + Silent SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 4 83799895 83799895 C G SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known silent c.390 p.V130 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 tier1 - - 19 0 0.00 20 27 57.45 SGK2 0 genome.wustl.edu 37 20 42195101 42195101 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 42195101 42195101 C T SNP SGK2 ENST00000341458 human ensembl 74_37 +1 known missense c.146 p.P49L 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK2 HGNC ENSG00000101049 tier1 - - 57 0 0.00 92 12 11.54 SIX4 0 genome.wustl.edu 37 14 61180669 61180669 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 61180669 61180669 C A SNP SIX4 ENST00000216513 human ensembl 74_37 -1 known missense c.1802 p.G601V 0.336 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX4 HGNC ENSG00000100625 tier1 - - 44 0 0.00 37 21 36.21 SKIDA1 0 genome.wustl.edu 37 10 21805483 21805484 + In_Frame_Ins INS - - TCT TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 10 21805483 21805484 - TCT INS SKIDA1 ENST00000449193 human ensembl 74_37 -1 known in_frame_ins c.1269_1268 p.427in_frame_insE 0.410:0.996 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 tier1 46 0 0.00 49 5 9.26 SLC2A6 0 genome.wustl.edu 37 9 136337224 136337224 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 136337224 136337224 G A SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known silent c.1443 p.C481 0.998 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 76 0 0.00 53 4 7.02 SLITRK4 0 genome.wustl.edu 37 X 142718078 142718078 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 142718078 142718078 C G SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.847 p.G283R 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 tier1 - - 35 0 0.00 55 33 37.08 SLITRK5 0 genome.wustl.edu 37 13 88327729 88327729 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 13 88327729 88327729 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.86 p.A29V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 35 0 0.00 34 4 10.53 SMC1B 0 genome.wustl.edu 37 22 45802661 45802661 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 45802661 45802661 G T SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known silent c.384 p.V128 0.969 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 45 0 0.00 91 5 5.21 SP2 0 genome.wustl.edu 37 17 46005104 46005104 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 46005104 46005104 G A SNP SP2 ENST00000376741 human ensembl 74_37 +1 known missense c.1756 p.E586K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 tier1 - - 32 0 0.00 30 9 23.08 SPATA7 0 genome.wustl.edu 37 14 88859798 88859798 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 88859798 88859798 G A SNP SPATA7 ENST00000393545 human ensembl 74_37 +1 known missense c.156 p.M52I 1.000 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 tier1 - - 58 0 0.00 43 9 17.31 SPG11 0 genome.wustl.edu 37 15 44881455 44881455 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 44881455 44881455 G C SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.4901 p.S1634C 0.996 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 - - 36 0 0.00 38 18 32.14 SPOCD1 0 genome.wustl.edu 37 1 32266183 32266183 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 32266183 32266183 G T SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known silent c.1461 p.A487 0.220 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 76 0 0.00 91 5 5.21 SPTA1 0 genome.wustl.edu 37 1 158606438 158606438 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 1 158606438 158606438 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5303 p.A1768V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 36 0 0.00 68 4 5.56 SRRM5 0 genome.wustl.edu 37 19 44116308 44116308 + Missense_Mutation SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 44116308 44116308 T C SNP SRRM5 ENST00000526798 human ensembl 74_37 +1 known missense c.80 p.M27T 0.063 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 tier1 - - 83 0 0.00 49 30 37.97 SSPO 0 genome.wustl.edu 37 7 149486300 149486300 + RNA SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 149486300 149486300 G T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.826 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 40 0 0.00 34 19 35.85 STAB1 0 genome.wustl.edu 37 3 52551624 52551624 + Missense_Mutation SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 3 52551624 52551624 T C SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.4622 p.L1541P 0.996 pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 74 0 0.00 61 4 6.15 STARD9 0 genome.wustl.edu 37 15 42977858 42977858 + Missense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 15 42977858 42977858 C A SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.4082 p.P1361H 0.006 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 65 0 0.00 58 4 6.45 STIP1 0 genome.wustl.edu 37 11 63953435 63953435 + Missense_Mutation SNP A A T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 63953435 63953435 A T SNP STIP1 ENST00000358794 human ensembl 74_37 +1 putative missense c.139 p.S47C 0.001 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 tier1 - - 53 0 0.00 41 28 40.58 STK11IP 0 genome.wustl.edu 37 2 220480764 220480764 + Splice_Site SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 220480764 220480764 A G SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel splice_site c.3118-2 e24-2 0.997 - - - no_errors STK11IP HGNC ENSG00000144589 tier1 - - 26 0 0.00 9 11 55.00 SUCLG1 0 genome.wustl.edu 37 2 84650856 84650857 + RNA INS - - T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 84650856 84650857 - T INS SUCLG1 ENST00000491123 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors SUCLG1 HGNC ENSG00000163541 tier1 28 0 0.00 26 3 10.34 SUMF2 0 genome.wustl.edu 37 7 56145799 56145799 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 7 56145799 56145799 A G SNP SUMF2 ENST00000342190 human ensembl 74_37 +1 known missense c.653 p.K218R 0.001 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 tier1 - - 44 0 0.00 35 21 37.50 SUN2 0 genome.wustl.edu 37 22 39138309 39138310 + Frame_Shift_Ins INS - - A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 39138309 39138310 - A INS SUN2 ENST00000216064 human ensembl 74_37 -1 known frame_shift_ins c.1065_1064 p.Q356fs 0.974:0.944 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 tier1 25 0 0.00 8 19 70.37 TAF1B 0 genome.wustl.edu 37 2 10073979 10073979 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 10073979 10073979 C G SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known missense c.1633 p.L545V 0.986 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 tier1 - - 37 0 0.00 58 10 14.71 TDRD1 0 genome.wustl.edu 37 10 115981169 115981169 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 10 115981169 115981169 A G SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.2824 p.I942V 0.287 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 - - 28 0 0.00 43 18 29.51 TECPR2 0 genome.wustl.edu 37 14 102963419 102963419 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 102963419 102963419 A G SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.3893 p.E1298G 1.000 pfam_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 tier1 - - 80 0 0.00 49 45 47.87 TENM4 0 genome.wustl.edu 37 11 78381002 78381002 + Missense_Mutation SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 11 78381002 78381002 T C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6388 p.I2130V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 37 0 0.00 13 12 48.00 TFDP1 0 genome.wustl.edu 37 13 114294708 114294708 + RNA SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 13 114294708 114294708 G C SNP TFDP1 ENST00000494812 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors TFDP1 HGNC ENSG00000198176 tier1 - - 11 0 0.00 4 6 60.00 TGDS 0 genome.wustl.edu 37 13 95248249 95248249 + RNA SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 13 95248249 95248249 G T SNP TGDS ENST00000498294 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors TGDS HGNC ENSG00000088451 tier1 - - 109 0 0.00 62 4 5.97 TGM3 0 genome.wustl.edu 37 20 2312957 2312957 + Splice_Site SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 2312957 2312957 G T SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known splice_site c.1642+1 e10+1 1.000 - - - no_errors TGM3 HGNC ENSG00000125780 17 0 0.00 32 3 8.57 THBS2 0 genome.wustl.edu 37 6 169637866 169637866 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 169637866 169637866 G C SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.1154 p.S385C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 tier1 - - 85 0 0.00 69 13 15.85 TMBIM4 0 genome.wustl.edu 37 12 66539653 66539653 + Silent SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 66539653 66539653 T C SNP TMBIM4 ENST00000358230 human ensembl 74_37 -1 known silent c.432 p.Q144 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 tier1 - - 53 0 0.00 83 28 24.78 TMEM97 0 genome.wustl.edu 37 17 26652649 26652649 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 26652649 26652649 A G SNP TMEM97 ENST00000226230 human ensembl 74_37 +1 known missense c.247 p.I83V 0.004 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 tier1 - - 61 0 0.00 75 9 10.71 TP53 0 genome.wustl.edu 37 17 7578239 7578239 + Nonsense_Mutation SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 7578239 7578239 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.610 p.E204* 0.045 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 tier1 - - 65 0 0.00 20 41 67.21 TPTE2 0 genome.wustl.edu 37 13 20025336 20025336 + Silent SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 13 20025336 20025336 A G SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known silent c.771 p.H257 0.040 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 58 0 0.00 47 4 7.84 TTC16 0 genome.wustl.edu 37 9 130493299 130493299 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 130493299 130493299 C G SNP TTC16 ENST00000373289 human ensembl 74_37 +1 known missense c.2237 p.S746C 0.019 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 95 0 0.00 55 3 5.17 TTC40 0 genome.wustl.edu 37 10 134751079 134751079 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 10 134751079 134751079 A G SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.637 p.Y213H 0.202 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 34 0 0.00 36 8 18.18 TTN 0 genome.wustl.edu 37 2 179648828 179648828 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 179648828 179648828 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2744 p.R915H 0.001 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 38 0 0.00 45 11 19.64 TTYH2 0 genome.wustl.edu 37 17 72227120 72227120 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 72227120 72227120 C G SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.396 p.F132L 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 43 0 0.00 38 3 7.32 TUBBP5 0 genome.wustl.edu 37 9 141069223 141069223 + RNA SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 141069223 141069223 T C SNP TUBBP5 ENST00000503395 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors TUBBP5 HGNC ENSG00000159247 tier1 - - 42 0 0.00 24 5 17.24 UBAP2 0 genome.wustl.edu 37 9 33941666 33941666 + Nonsense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 9 33941666 33941666 G C SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known nonsense c.1910 p.S637* 0.028 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 tier1 - - 23 0 0.00 23 21 47.73 UBE2K 0 genome.wustl.edu 37 4 39776500 39776500 + Missense_Mutation SNP C C G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 4 39776500 39776500 C G SNP UBE2K ENST00000261427 human ensembl 74_37 +1 known missense c.346 p.L116V 0.828 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_UBA/Ts_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBQ-conjugat_E2 - no_errors UBE2K HGNC ENSG00000078140 tier1 - - 16 0 0.00 3 13 81.25 UBTD1 0 genome.wustl.edu 37 10 99330073 99330073 + Missense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 10 99330073 99330073 G T SNP UBTD1 ENST00000370664 human ensembl 74_37 +1 known missense c.477 p.K159N 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBTD1 HGNC ENSG00000165886 64 0 0.00 53 3 5.36 UNG 0 genome.wustl.edu 37 12 109547654 109547654 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 109547654 109547654 G A SNP UNG ENST00000242576 human ensembl 74_37 +1 known silent c.822 p.Q274 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC ENSG00000076248 tier1 - - 80 0 0.00 85 42 33.07 USP7 0 genome.wustl.edu 37 16 8997253 8997253 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 16 8997253 8997253 C T SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.1711 p.A571T 0.981 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 26 0 0.00 35 2 5.41 VWF 0 genome.wustl.edu 37 12 6161849 6161849 + Silent SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 12 6161849 6161849 G T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.2046 p.A682 0.984 pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom 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 61 0 0.00 59 5 7.81 WASH6P 0 genome.wustl.edu 37 X 155252248 155252248 + RNA SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 X 155252248 155252248 C T SNP WASH6P ENST00000340131 human ensembl 74_37 +1 known rna NULL NULL 0.567 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 30 0 0.00 25 6 19.35 WSCD1 0 genome.wustl.edu 37 17 5991412 5991412 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 17 5991412 5991412 C T SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known missense c.530 p.A177V 0.832 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 tier1 - - 58 0 0.00 69 4 5.48 XDH 0 genome.wustl.edu 37 2 31571772 31571772 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 31571772 31571772 A G SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3044 p.L1015P 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 29 0 0.00 57 4 6.56 XPC 0 genome.wustl.edu 37 3 14219966 14219968 + In_Frame_Del DEL CCT CCT - TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 3 14219966 14219968 CCT - DEL XPC ENST00000285021 human ensembl 74_37 -1 known in_frame_del c.103_101 p.E34in_frame_del 0.927:0.902:0.864 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 tier1 24 0 0.00 24 4 14.29 YEATS2-AS1 0 genome.wustl.edu 37 3 183525736 183525737 + RNA INS - - T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 3 183525736 183525737 - T INS YEATS2-AS1 ENST00000425008 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.003 - - - no_errors YEATS2-AS1 HGNC ENSG00000233885 tier1 27 0 0.00 30 9 23.08 YLPM1 0 genome.wustl.edu 37 14 75276398 75276398 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 75276398 75276398 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.4837 p.V1613I 0.997 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 43 0 0.00 61 4 6.15 ZC3H7B 0 genome.wustl.edu 37 22 41739432 41739432 + Silent SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 22 41739432 41739432 C A SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.1311 p.G437 0.525 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 70 0 0.00 70 4 5.33 ZFYVE26 0 genome.wustl.edu 37 14 68236404 68236404 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 14 68236404 68236404 C T SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.5528 p.C1843Y 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 tier1 - - 48 0 0.00 25 24 48.98 ZNF208 0 genome.wustl.edu 37 19 22154522 22154522 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 22154522 22154522 C T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.3314 p.R1105K 0.000 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 ZNF208 HGNC ENSG00000160321 43 0 0.00 71 4 5.33 ZNF223 0 genome.wustl.edu 37 19 44571272 44571272 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 44571272 44571272 G C SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.1621 p.E541Q 0.011 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 tier1 - - 19 0 0.00 29 17 36.96 ZNF252P 0 genome.wustl.edu 37 8 146203408 146203408 + RNA SNP C C A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 8 146203408 146203408 C A SNP ZNF252P ENST00000426361 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors ZNF252P HGNC ENSG00000196922 tier1 - - 62 0 0.00 129 44 25.43 ZNF341 0 genome.wustl.edu 37 20 32376685 32376685 + Missense_Mutation SNP A A G TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 32376685 32376685 A G SNP ZNF341 ENST00000483118 human ensembl 74_37 +1 known missense c.1772 p.N591S 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 tier1 - - 32 0 0.00 44 23 34.33 ZNF385B 0 genome.wustl.edu 37 2 180306890 180306890 + RNA SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 2 180306890 180306890 G A SNP ZNF385B ENST00000466398 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ZNF385B HGNC ENSG00000144331 tier1 - - 31 0 0.00 52 37 41.11 ZNF446 0 genome.wustl.edu 37 19 58991834 58991834 + Missense_Mutation SNP T T A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 58991834 58991834 T A SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.1094 p.L365Q 0.001 NULL pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 58 0 0.00 76 4 5.00 ZNF518A 0 genome.wustl.edu 37 10 97920573 97920573 + RNA SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 10 97920573 97920573 G A SNP ZNF518A ENST00000534948 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 - - 21 0 0.00 27 12 30.00 ZNF568 0 genome.wustl.edu 37 19 37416130 37416130 + Silent SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 37416130 37416130 C T SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known silent c.105 p.S35 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 ZNF568 HGNC ENSG00000198453 tier1 - - 57 0 0.00 66 40 37.38 ZNF729 0 genome.wustl.edu 37 19 22499217 22499217 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 22499217 22499217 G C SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.2998 p.D1000H 0.008 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 ZNF729 HGNC ENSG00000196350 tier1 - - 21 0 0.00 38 26 40.62 ZNF730 0 genome.wustl.edu 37 19 23328256 23328256 + Missense_Mutation SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 23328256 23328256 T C SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.410 p.L137S 0.024 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 ZNF730 HGNC ENSG00000183850 tier1 - - 43 0 0.00 57 23 28.40 ZNF831 0 genome.wustl.edu 37 20 57766387 57766387 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 20 57766387 57766387 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.313 p.V105M 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 8 0 0.00 14 10 41.67 ZNF99 0 genome.wustl.edu 37 19 22941667 22941667 + Silent SNP T T C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 19 22941667 22941667 T C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.771 p.K257 0.014 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 ZNF99 HGNC ENSG00000213973 tier1 rs199672066 - 42 0 0.00 94 8 7.84 ZSCAN23 0 genome.wustl.edu 37 6 28402571 28402571 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5368be89-2d00-4206-a8d3-b96639295db4 e1e94442-c85e-4d32-9f22-9a1c2bf12624 6 28402571 28402571 C T SNP ZSCAN23 ENST00000289788 human ensembl 74_37 -1 known missense c.841 p.E281K 0.655 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 tier1 - - 50 0 0.00 36 32 47.06