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 ACLY 0 genome.wustl.edu 37 17 40027984 40027984 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 17 40027984 40027984 C A SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.2895 p.K965N 0.998 pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 tier1 - - 95 0 0.00 54 13 19.40 ACOT4 0 genome.wustl.edu 37 14 74058892 74058892 + Missense_Mutation SNP C C G TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 14 74058892 74058892 C G SNP ACOT4 ENST00000326303 human ensembl 74_37 +1 known missense c.229 p.P77A 1.000 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT4 HGNC ENSG00000177465 tier1 - - 39 0 0.00 9 5 35.71 ADAM30 0 genome.wustl.edu 37 1 120437095 120437095 + Frame_Shift_Del DEL T T - TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 120437095 120437095 T - DEL ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_del c.1865 p.N622fs 0.000 smart_ADAM_Cys-rich 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 ADAM30 HGNC ENSG00000134249 tier1 51 0 0.00 22 3 12.00 ALKBH8 0 genome.wustl.edu 37 11 107375398 107375398 + Missense_Mutation SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 11 107375398 107375398 G A SNP ALKBH8 ENST00000417449 human ensembl 74_37 -1 known missense c.1990 p.L664F 0.998 NULL pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 46 0 0.00 43 3 6.52 ALMS1P 0 genome.wustl.edu 37 2 73912287 73912287 + RNA SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 2 73912287 73912287 G T SNP ALMS1P ENST00000450720 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ALMS1P HGNC ENSG00000163016 28 0 0.00 13 4 23.53 APOB 0 genome.wustl.edu 37 2 21231540 21231540 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 2 21231540 21231540 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.8200 p.P2734T 0.994 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 37 0 0.00 14 2 12.50 ARHGEF15 0 genome.wustl.edu 37 17 8222388 8222388 + Silent SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 17 8222388 8222388 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known silent c.2097 p.P699 0.418 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 tier1 - - 18 0 0.00 17 7 29.17 ARSF 0 genome.wustl.edu 37 X 3030501 3030501 + Missense_Mutation SNP G G C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f X 3030501 3030501 G C SNP ARSF ENST00000359361 human ensembl 74_37 +1 known missense c.1677 p.R559S 0.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 tier1 - - 57 0 0.00 26 9 25.71 ASMT 0 genome.wustl.edu 37 X 1748766 1748766 + Missense_Mutation SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f X 1748766 1748766 G A SNP ASMT ENST00000381241 human ensembl 74_37 +1 known missense c.496 p.V166I 0.999 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 tier1 - - 203 0 0.00 131 23 14.94 BARHL1 0 genome.wustl.edu 37 9 135458334 135458334 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 9 135458334 135458334 G T SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known silent c.150 p.S50 0.932 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 tier1 - - 64 0 0.00 31 6 15.79 C7orf13 0 genome.wustl.edu 37 7 156432831 156432831 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 7 156432831 156432831 C A SNP C7orf13 ENST00000333319 human ensembl 74_37 -1 known missense c.518 p.G173V 0.002 NULL NULL - no_errors C7orf13 HGNC ENSG00000244291 38 0 0.00 26 3 10.34 CACNA1G 0 genome.wustl.edu 37 17 48696187 48696187 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 17 48696187 48696187 C A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.5599 p.L1867I 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 77 0 0.00 38 5 11.63 CAPSL 0 genome.wustl.edu 37 5 35921208 35921208 + Silent SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 5 35921208 35921208 C T SNP CAPSL ENST00000397366 human ensembl 74_37 -1 known silent c.15 p.A5 0.097 NULL pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors CAPSL HGNC ENSG00000152611 tier1 - - 82 0 0.00 36 10 21.74 CDC45 0 genome.wustl.edu 37 22 19496146 19496146 + Silent SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 22 19496146 19496146 G A SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known silent c.1245 p.L415 0.999 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 tier1 - - 68 0 0.00 52 4 7.14 CERK 0 genome.wustl.edu 37 22 47103869 47103869 + Nonsense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 22 47103869 47103869 C A SNP CERK ENST00000216264 human ensembl 74_37 -1 known nonsense c.586 p.G196* 1.000 pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 86 0 0.00 40 3 6.98 CKAP5 0 genome.wustl.edu 37 11 46776437 46776437 + Splice_Site SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 11 46776437 46776437 C A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known splice_site c.4869+1 e35+1 1.000 - - - no_errors CKAP5 HGNC ENSG00000175216 tier1 - - 91 0 0.00 73 12 14.12 CLUH 0 genome.wustl.edu 37 17 2607801 2607801 + Missense_Mutation SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 17 2607801 2607801 G A SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.44 p.A15V 0.915 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 71 0 0.00 33 2 5.71 COPS7B 0 genome.wustl.edu 37 2 232659056 232659056 + Missense_Mutation SNP A A T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 2 232659056 232659056 A T SNP COPS7B ENST00000350033 human ensembl 74_37 +1 known missense c.322 p.M108L 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS7B HGNC ENSG00000144524 tier1 - - 79 0 0.00 37 10 21.28 CORO7-PAM16 0 genome.wustl.edu 37 16 4414633 4414633 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 16 4414633 4414633 C T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.1102 p.D368N 0.003 pfam_DUF1900 pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 44 0 0.00 21 5 19.23 CPB2 0 genome.wustl.edu 37 13 46652979 46652979 + Missense_Mutation SNP G G C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 13 46652979 46652979 G C SNP CPB2 ENST00000181383 human ensembl 74_37 -1 known missense c.442 p.H148D 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 tier1 - - 36 0 0.00 28 8 22.22 CRYZL1 0 genome.wustl.edu 37 21 35003857 35003857 + Missense_Mutation SNP T T C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 21 35003857 35003857 T C SNP CRYZL1 ENST00000381554 human ensembl 74_37 -1 known missense c.1 p.M1V 1.000 superfamily_GroES-like pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC ENSG00000205758 tier1 - - 46 0 0.00 24 12 33.33 CSPG4 0 genome.wustl.edu 37 15 75970175 75970175 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 15 75970175 75970175 C A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.5003 p.W1668L 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 66 0 0.00 30 6 16.67 DHRS2 0 genome.wustl.edu 37 14 24111042 24111043 + RNA INS - - A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 14 24111042 24111043 - A INS DHRS2 ENST00000553896 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors DHRS2 HGNC ENSG00000100867 tier1 32 0 0.00 11 2 15.38 DHX15 0 genome.wustl.edu 37 4 24531252 24531252 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 4 24531252 24531252 G T SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known silent c.2242 p.R748 1.000 pfam_DUF1605 pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 tier1 - - 68 0 0.00 66 4 5.71 DLL3 0 genome.wustl.edu 37 19 39994766 39994766 + Silent SNP A A G TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 19 39994766 39994766 A G SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known silent c.708 p.E236 0.934 pfam_EGF_extracell,smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 tier1 - - 53 0 0.00 27 5 15.62 DNAH10 0 genome.wustl.edu 37 12 124352662 124352662 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 12 124352662 124352662 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.7161 p.L2387 0.984 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 68 0 0.00 35 3 7.89 DNAJA2 0 genome.wustl.edu 37 16 46992949 46992949 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 16 46992949 46992949 G T SNP DNAJA2 ENST00000317089 human ensembl 74_37 -1 known missense c.1013 p.P338H 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 37 0 0.00 11 2 15.38 DOK4 0 genome.wustl.edu 37 16 57507333 57507333 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 16 57507333 57507333 G T SNP DOK4 ENST00000340099 human ensembl 74_37 -1 known missense c.937 p.P313T 0.009 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK4 HGNC ENSG00000125170 91 0 0.00 40 4 9.09 DPF3 0 genome.wustl.edu 37 14 73181155 73181155 + Frame_Shift_Del DEL G G - TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 14 73181155 73181155 G - DEL DPF3 ENST00000366353 human ensembl 74_37 -1 known frame_shift_del c.745 p.H249fs 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 tier1 51 0 0.00 15 2 11.76 ENSG00000221096 0 genome.wustl.edu 37 15 59443246 59443246 + RNA SNP A A G TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 15 59443246 59443246 A G SNP ENSG00000221096 ENST00000408169 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC092757.1 Clone_based_ensembl_gene ENSG00000221096 tier1 - - 19 0 0.00 7 6 46.15 ENSG00000236957 0 genome.wustl.edu 37 1 157899339 157899339 + RNA SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 157899339 157899339 G A SNP ENSG00000236957 ENST00000422062 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-451O13.1 Clone_based_vega_gene ENSG00000236957 66 0 0.00 34 3 8.11 ENSG00000249846 0 genome.wustl.edu 37 3 129838380 129838383 + RNA DEL AGAA AGAA - TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 AGAA AGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 3 129838380 129838383 AGAA - DEL ENSG00000249846 ENST00000504808 human ensembl 74_37 +1 known rna NULL NULL 0.016:0.012:0.011:0.011 - - - no_errors RP11-77P16.4 Clone_based_vega_gene ENSG00000249846 tier1 15 0 0.00 3 4 57.14 ERN2 0 genome.wustl.edu 37 16 23707240 23707240 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 16 23707240 23707240 C T SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.1729 p.G577R 0.999 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_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 tier1 - - 87 0 0.00 46 16 25.81 FAM124B 0 genome.wustl.edu 37 2 225265849 225265849 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 2 225265849 225265849 C A SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known missense c.637 p.G213C 1.000 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 tier1 - - 45 0 0.00 29 6 17.14 FHOD3 0 genome.wustl.edu 37 18 34092450 34092450 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 18 34092450 34092450 G T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.455 p.C152F 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 - - 87 0 0.00 43 4 8.51 FMN2 0 genome.wustl.edu 37 1 240255442 240255442 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 240255442 240255442 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.33 p.S11R 0.999 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 53 0 0.00 15 6 28.57 GGT5 0 genome.wustl.edu 37 22 24622685 24622685 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 22 24622685 24622685 C T SNP GGT5 ENST00000398292 human ensembl 74_37 -1 known missense c.952 p.V318M 0.766 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 tier1 - - 79 0 0.00 28 19 40.43 GOLGA8H 0 genome.wustl.edu 37 15 30906600 30906600 + Missense_Mutation SNP G G C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 15 30906600 30906600 G C SNP GOLGA8H ENST00000566740 human ensembl 74_37 +1 novel missense c.1735 p.V579L 0.912 NULL NULL - no_errors GOLGA8H HGNC ENSG00000261794 tier1 - - 54 0 0.00 17 9 34.62 GVINP1 0 genome.wustl.edu 37 11 6740462 6740462 + RNA SNP G G C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 11 6740462 6740462 G C SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors GVINP1 HGNC ENSG00000254838 81 0 0.00 43 3 6.52 HMCN1 0 genome.wustl.edu 37 1 185950197 185950197 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 185950197 185950197 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2654 p.T885N 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 33 0 0.00 29 10 25.64 HSPA1L 0 genome.wustl.edu 37 6 31778675 31778675 + Missense_Mutation SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 6 31778675 31778675 G A SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known missense c.1075 p.R359C 0.998 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 tier1 - - 104 0 0.00 47 13 21.67 IQSEC3 0 genome.wustl.edu 37 12 247762 247762 + Frame_Shift_Del DEL G G - TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 12 247762 247762 G - DEL IQSEC3 ENST00000326261 human ensembl 74_37 +1 known frame_shift_del c.1233 p.K411fs 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 tier1 37 0 0.00 9 2 18.18 KRBA1 0 genome.wustl.edu 37 7 149420836 149420836 + Missense_Mutation SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 7 149420836 149420836 G A SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.784 p.A262T 0.013 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 tier1 - - 230 0 0.00 136 45 24.86 KRT16P2 0 genome.wustl.edu 37 17 16735593 16735593 + RNA SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 17 16735593 16735593 G T SNP KRT16P2 ENST00000579062 human ensembl 74_37 -1 known rna NULL NULL 0.432 - - - no_errors KRT16P2 HGNC ENSG00000227300 tier1 - - 152 0 0.00 82 21 20.39 LEMD3 0 genome.wustl.edu 37 12 65634751 65634751 + Missense_Mutation SNP T T C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 12 65634751 65634751 T C SNP LEMD3 ENST00000308330 human ensembl 74_37 +1 known missense c.2189 p.V730A 1.000 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 72 0 0.00 228 19 7.69 LMF1 0 genome.wustl.edu 37 16 920852 920852 + Nonsense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 16 920852 920852 G T SNP LMF1 ENST00000262301 human ensembl 74_37 -1 known nonsense c.1109 p.S370* 0.015 pfam_LMF pfam_LMF - no_errors LMF1 HGNC ENSG00000103227 62 0 0.00 38 2 5.00 LOC100653515 0 genome.wustl.edu 37 17 76887813 76887813 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 17 76887813 76887813 G T SNP LOC100653515 ENST00000322630 human ensembl 74_37 -1 putative missense c.773 p.A258D 0.000 NULL NULL - no_errors DDC8 Uniprot_gn ENSG00000178404 tier1 - - 44 0 0.00 30 4 11.76 LRIT1 0 genome.wustl.edu 37 10 85992508 85992508 + Silent SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 10 85992508 85992508 C T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known silent c.1047 p.P349 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 tier1 - - 32 0 0.00 12 3 20.00 MDGA1 0 genome.wustl.edu 37 6 37623625 37623625 + Nonsense_Mutation SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 6 37623625 37623625 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known nonsense c.430 p.R144* 0.953 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 41 0 0.00 29 5 14.71 MGST3 0 genome.wustl.edu 37 1 165619133 165619133 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 165619133 165619133 G T SNP MGST3 ENST00000367886 human ensembl 74_37 +1 known missense c.91 p.A31S 1.000 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST3 HGNC ENSG00000143198 tier1 - - 61 0 0.00 26 4 13.33 MPI 0 genome.wustl.edu 37 15 75190056 75190056 + Silent SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 15 75190056 75190056 C T SNP MPI ENST00000352410 human ensembl 74_37 +1 known silent c.1257 p.A419 1.000 superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 - no_errors MPI HGNC ENSG00000178802 tier1 - - 83 0 0.00 36 6 14.29 MS4A15 0 genome.wustl.edu 37 11 60543107 60543107 + Silent SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 11 60543107 60543107 C T SNP MS4A15 ENST00000405633 human ensembl 74_37 +1 known silent c.642 p.S214 0.996 NULL pfam_CD20-like - no_errors MS4A15 HGNC ENSG00000166961 tier1 - - 64 0 0.00 27 14 34.15 MSH4 0 genome.wustl.edu 37 1 76280729 76280729 + Silent SNP A A G TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 76280729 76280729 A G SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known silent c.723 p.Q241 1.000 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 tier1 - - 62 0 0.00 26 6 18.75 NBPF1 0 genome.wustl.edu 37 1 16921146 16921146 + RNA SNP T T C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 16921146 16921146 T C SNP NBPF1 ENST00000420513 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NBPF1 HGNC ENSG00000219481 tier1 rs1759165 - 11 0 0.00 3 4 57.14 NBPF22P 0 genome.wustl.edu 37 5 85589080 85589080 + RNA SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 5 85589080 85589080 C A SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors NBPF22P HGNC ENSG00000205449 98 0 0.00 62 4 6.06 NELL1 0 genome.wustl.edu 37 11 20968944 20968944 + Silent SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 11 20968944 20968944 C T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.1134 p.H378 0.953 smart_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 43 0 0.00 16 3 15.79 NRG3 0 genome.wustl.edu 37 10 84745037 84745037 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 10 84745037 84745037 G T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1839 p.M613I 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 51 0 0.00 34 5 12.82 PCNXL4 0 genome.wustl.edu 37 14 60591065 60591065 + Missense_Mutation SNP A A T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 14 60591065 60591065 A T SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.2176 p.T726S 1.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 tier1 - - 71 0 0.00 27 22 44.90 PDE11A 0 genome.wustl.edu 37 2 178762828 178762828 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 2 178762828 178762828 C T SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.1259 p.C420Y 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 tier1 - - 85 0 0.00 49 21 30.00 PDGFA 0 genome.wustl.edu 37 7 550549 550549 + Missense_Mutation SNP A A G TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 7 550549 550549 A G SNP PDGFA ENST00000354513 human ensembl 74_37 -1 known missense c.350 p.F117S 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFA HGNC ENSG00000197461 tier1 - - 68 0 0.00 83 18 17.82 PLCH1 0 genome.wustl.edu 37 3 155212209 155212209 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 3 155212209 155212209 G T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.1956 p.L652 0.984 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 58 0 0.00 37 2 5.13 PRDM9 0 genome.wustl.edu 37 5 23527050 23527050 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 5 23527050 23527050 G T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1853 p.S618I 0.042 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 - - 72 0 0.00 39 5 11.36 PRPS2 0 genome.wustl.edu 37 X 12837707 12837707 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f X 12837707 12837707 G T SNP PRPS2 ENST00000398491 human ensembl 74_37 +1 known silent c.621 p.R207 1.000 pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 tier1 - - 76 0 0.00 54 4 6.90 PTPRZ1 0 genome.wustl.edu 37 7 121652125 121652125 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 7 121652125 121652125 G T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.3025 p.D1009Y 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 36 0 0.00 25 5 16.67 PYHIN1 0 genome.wustl.edu 37 1 158912089 158912089 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 158912089 158912089 C A SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.902 p.P301Q 0.004 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 32 0 0.00 20 3 13.04 RFX6 0 genome.wustl.edu 37 6 117243304 117243304 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 6 117243304 117243304 G T SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.1427 p.R476I 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 46 0 0.00 30 2 6.25 RFX7 0 genome.wustl.edu 37 15 56390553 56390553 + Missense_Mutation SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 15 56390553 56390553 G A SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.833 p.P278L 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 40 0 0.00 6 13 68.42 RTEL1 0 genome.wustl.edu 37 20 62321468 62321468 + Silent SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 20 62321468 62321468 C T SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known silent c.2170 p.L724 1.000 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 37 0 0.00 17 2 10.53 SIGMAR1 0 genome.wustl.edu 37 9 34637400 34637400 + Frame_Shift_Del DEL C C - TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 9 34637400 34637400 C - DEL SIGMAR1 ENST00000277010 human ensembl 74_37 -1 known frame_shift_del c.169 p.A57fs 1.000 pfam_ERG2_sigma1_rcpt-like pfam_ERG2_sigma1_rcpt-like - no_errors SIGMAR1 HGNC ENSG00000147955 tier1 19 0 0.00 3 2 40.00 SIRT2 0 genome.wustl.edu 37 19 39390226 39390226 + RNA SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 19 39390226 39390226 C T SNP SIRT2 ENST00000481381 human ensembl 74_37 -1 known rna NULL NULL 0.891 - - - no_errors SIRT2 HGNC ENSG00000068903 tier1 - - 91 0 0.00 48 5 9.43 SLC22A2 0 genome.wustl.edu 37 6 160679544 160679544 + Silent SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 6 160679544 160679544 G A SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known silent c.246 p.G82 0.055 pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 tier1 - - 139 0 0.00 38 18 32.14 SMEK1 0 genome.wustl.edu 37 14 91932626 91932626 + RNA SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 14 91932626 91932626 C T SNP SMEK1 ENST00000555718 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SMEK1 HGNC ENSG00000100796 tier1 - - 154 0 0.00 56 31 35.63 SOAT1 0 genome.wustl.edu 37 1 179308616 179308616 + Missense_Mutation SNP T T C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 179308616 179308616 T C SNP SOAT1 ENST00000367619 human ensembl 74_37 +1 known missense c.433 p.F145L 1.000 NULL pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 tier1 - - 61 0 0.00 21 4 16.00 SPATA6 0 genome.wustl.edu 37 1 48850999 48850999 + Nonsense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 1 48850999 48850999 G T SNP SPATA6 ENST00000371847 human ensembl 74_37 -1 known nonsense c.891 p.C297* 0.701 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 tier1 - - 75 0 0.00 50 4 7.27 SRPK2 0 genome.wustl.edu 37 7 104787088 104787088 + Missense_Mutation SNP A A C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 7 104787088 104787088 A C SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.639 p.D213E 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,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK2 HGNC ENSG00000135250 tier1 - - 45 0 0.00 37 11 22.92 SSTR1 0 genome.wustl.edu 37 14 38678867 38678867 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 14 38678867 38678867 G T SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known silent c.273 p.T91 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 72 0 0.00 32 2 5.88 SYT10 0 genome.wustl.edu 37 12 33529826 33529826 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 12 33529826 33529826 C T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.1511 p.R504Q 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 tier1 - - 35 0 0.00 13 5 27.78 SYTL4 0 genome.wustl.edu 37 X 99930886 99930887 + RNA INS - - AC TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f X 99930886 99930887 - AC INS SYTL4 ENST00000491602 human ensembl 74_37 -1 known rna NULL NULL 0.041:0.081 - - - no_errors SYTL4 HGNC ENSG00000102362 tier1 18 0 0.00 2 5 71.43 TADA2B 0 genome.wustl.edu 37 4 7056555 7056555 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 4 7056555 7056555 C T SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.1037 p.P346L 0.793 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 tier1 - - 27 0 0.00 7 4 36.36 TG 0 genome.wustl.edu 37 8 133899255 133899255 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 8 133899255 133899255 G T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1638 p.K546N 0.010 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 48 0 0.00 27 2 6.90 TMEM246 0 genome.wustl.edu 37 9 104238319 104238319 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 9 104238319 104238319 G T SNP TMEM246 ENST00000374847 human ensembl 74_37 -1 known silent c.1056 p.S352 0.962 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 75 0 0.00 55 3 5.17 TP53I11 0 genome.wustl.edu 37 11 44956472 44956472 + Missense_Mutation SNP T T C TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 11 44956472 44956472 T C SNP TP53I11 ENST00000308212 human ensembl 74_37 -1 known missense c.533 p.Y178C 1.000 NULL NULL - no_errors TP53I11 HGNC ENSG00000175274 tier1 - - 61 0 0.00 20 4 16.67 TRPC3 0 genome.wustl.edu 37 4 122854046 122854046 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 4 122854046 122854046 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.367 p.G123S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 77 0 0.00 39 10 20.41 TTC39C 0 genome.wustl.edu 37 18 21708871 21708871 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 18 21708871 21708871 C T SNP TTC39C ENST00000317571 human ensembl 74_37 +1 known missense c.1442 p.S481L 0.999 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 tier1 - - 110 0 0.00 70 26 27.08 TTN 0 genome.wustl.edu 37 2 179600781 179600781 + Missense_Mutation SNP G G A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 2 179600781 179600781 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10660 p.L3554F 0.989 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-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 - - 46 0 0.00 32 4 11.11 TYR 0 genome.wustl.edu 37 11 88911367 88911367 + Silent SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 11 88911367 88911367 C T SNP TYR ENST00000263321 human ensembl 74_37 +1 known silent c.246 p.S82 0.004 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 tier1 rs139926589 - 28 0 0.00 18 5 21.74 USP51 0 genome.wustl.edu 37 X 55515360 55515360 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f X 55515360 55515360 G T SNP USP51 ENST00000500968 human ensembl 74_37 -1 known silent c.13 p.R5 0.909 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 45 0 0.00 14 3 17.65 VAV1 0 genome.wustl.edu 37 19 6826687 6826687 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 19 6826687 6826687 G T SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.892 p.A298S 0.991 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 tier1 - - 59 0 0.00 32 4 11.11 VWDE 0 genome.wustl.edu 37 7 12414816 12414816 + Silent SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 7 12414816 12414816 G T SNP VWDE ENST00000452576 human ensembl 74_37 -1 known silent c.1062 p.S354 0.990 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 42 0 0.00 28 12 30.00 YWHAH 0 genome.wustl.edu 37 22 32353392 32353392 + RNA DEL T T - TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 22 32353392 32353392 T - DEL YWHAH ENST00000471374 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors YWHAH HGNC ENSG00000128245 tier1 41 0 0.00 25 5 16.67 ZNF157 0 genome.wustl.edu 37 X 47269756 47269756 + Missense_Mutation SNP C C A TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f X 47269756 47269756 C A SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known missense c.154 p.H52N 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 tier1 - - 198 0 0.00 245 22 8.24 ZNF544 0 genome.wustl.edu 37 19 58772365 58772365 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f 19 58772365 58772365 G T SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known missense c.393 p.Q131H 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 ZNF544 HGNC ENSG00000198131 tier1 - - 47 0 0.00 55 4 6.78 ZNF81 0 genome.wustl.edu 37 X 47775628 47775628 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5c13439-c890-4471-a0c8-f2045cad7ca1 8fe2df9d-573d-4432-b47e-a608df7c0f4f X 47775628 47775628 G T SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.1583 p.C528F 1.000 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 ZNF81 HGNC ENSG00000197779 tier1 - - 71 0 0.00 60 22 26.83