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 A2ML1 0 genome.wustl.edu 37 12 9013757 9013757 + Silent SNP G G C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 9013757 9013757 G C SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known silent c.3366 p.R1122 0.314 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 tier1 - - 60 0 0.00 57 8 12.31 ABCA13 0 genome.wustl.edu 37 7 48431574 48431574 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 48431574 48431574 A G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11711 p.K3904R 0.997 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 77 0 0.00 58 5 7.94 ABCC12 0 genome.wustl.edu 37 16 48119527 48119527 + Nonsense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 48119527 48119527 G A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known nonsense c.3805 p.R1269* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 54 0 0.00 54 14 20.59 ABHD12B 0 genome.wustl.edu 37 14 51345478 51345478 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 14 51345478 51345478 T C SNP ABHD12B ENST00000337334 human ensembl 74_37 +1 known missense c.248 p.L83P 0.997 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors ABHD12B HGNC ENSG00000131969 tier1 - - 59 0 0.00 51 6 10.53 ABHD6 0 genome.wustl.edu 37 3 58270864 58270864 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 58270864 58270864 A C SNP ABHD6 ENST00000295962 human ensembl 74_37 +1 known missense c.734 p.K245T 0.815 pfam_Ndr pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD6 HGNC ENSG00000163686 tier1 - - 102 0 0.00 63 16 20.25 ADAM18 0 genome.wustl.edu 37 8 39496040 39496040 + Missense_Mutation SNP A A T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 39496040 39496040 A T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.884 p.K295I 0.004 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 85 0 0.00 49 10 16.95 ADAM2 0 genome.wustl.edu 37 8 39645738 39645738 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 39645738 39645738 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known silent c.675 p.L225 0.428 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 - - 35 0 0.00 31 6 16.22 AHNAK 0 genome.wustl.edu 37 11 62299594 62299594 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 62299594 62299594 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.2295 p.E765 0.999 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 183 0 0.00 130 49 27.37 ANKRD12 0 genome.wustl.edu 37 18 9279564 9279564 + Silent SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 18 9279564 9279564 T G SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known silent c.5925 p.T1975 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 - - 80 0 0.00 75 5 6.25 ANKS3 0 genome.wustl.edu 37 16 4751504 4751504 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 4751504 4751504 G A SNP ANKS3 ENST00000304283 human ensembl 74_37 -1 known silent c.1050 p.S350 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 tier1 - - 55 0 0.00 45 9 16.67 APOB 0 genome.wustl.edu 37 2 21225692 21225692 + Missense_Mutation SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 21225692 21225692 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.12602 p.R4201I 0.331 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 18 0 0.00 25 2 7.41 ARHGAP31 0 genome.wustl.edu 37 3 119133553 119133553 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 119133553 119133553 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.2777 p.A926V 0.890 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 35 0 0.00 34 4 10.53 ARSK 0 genome.wustl.edu 37 5 94918845 94918845 + Silent SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 94918845 94918845 T G SNP ARSK ENST00000380009 human ensembl 74_37 +1 known silent c.642 p.S214 0.988 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 tier1 - - 64 0 0.00 58 6 9.38 ATP1A2 0 genome.wustl.edu 37 1 160105239 160105239 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 160105239 160105239 G A SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.2131 p.V711M 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 tier1 - - 88 0 0.00 46 39 45.88 ATR 0 genome.wustl.edu 37 3 142272730 142272730 + Silent SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 142272730 142272730 A C SNP ATR ENST00000350721 human ensembl 74_37 -1 known silent c.2469 p.A823 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 47 0 0.00 51 7 12.07 C10orf71 0 genome.wustl.edu 37 10 50531190 50531190 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 10 50531190 50531190 T C SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known silent c.600 p.A200 0.957 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 47 0 0.00 46 3 6.12 C10orf88 0 genome.wustl.edu 37 10 124697275 124697275 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 10 124697275 124697275 T C SNP C10orf88 ENST00000481909 human ensembl 74_37 -1 known missense c.1049 p.K350R 0.000 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 tier1 - - 51 0 0.00 57 8 12.31 C12orf55 0 genome.wustl.edu 37 12 97180615 97180615 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 97180615 97180615 T G SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.8618 p.L2873R 0.995 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 86 0 0.00 41 27 39.71 C16orf89 0 genome.wustl.edu 37 16 5112546 5112546 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 5112546 5112546 C T SNP C16orf89 ENST00000350219 human ensembl 74_37 -1 known missense c.352 p.A118T 0.974 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 34 0 0.00 15 5 25.00 CACNA1A 0 genome.wustl.edu 37 19 13414639 13414639 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 13414639 13414639 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.2046 p.G682 0.951 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 40 0 0.00 39 8 17.02 CAPS2 0 genome.wustl.edu 37 12 75716828 75716828 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 75716828 75716828 G T SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.274 p.P92T 0.201 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 tier1 - - 70 0 0.00 59 4 6.35 CASP5 0 genome.wustl.edu 37 11 104878041 104878041 + Frame_Shift_Del DEL T T - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 104878041 104878041 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.241 p.T81fs 0.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 tier1 33 0 0.00 34 3 8.11 CCDC74B 0 genome.wustl.edu 37 2 130900636 130900636 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 130900636 130900636 T C SNP CCDC74B ENST00000409234 human ensembl 74_37 -1 putative silent c.501 p.G167 0.000 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 tier1 - - 100 0 0.00 74 10 11.90 CCDC88A 0 genome.wustl.edu 37 2 55563842 55563842 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 55563842 55563842 G T SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.1631 p.T544K 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 39 0 0.00 32 2 5.88 CD1C 0 genome.wustl.edu 37 1 158261944 158261944 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 158261944 158261944 G T SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.399 p.Q133H 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 tier1 - - 47 0 0.00 45 4 8.16 CHD1 0 genome.wustl.edu 37 5 98217809 98217809 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 98217809 98217809 C T SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.2737 p.V913I 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 49 0 0.00 51 6 10.53 CHD3 0 genome.wustl.edu 37 17 7798284 7798284 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 7798284 7798284 A G SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.1319 p.E440G 1.000 superfamily_Znf_FYVE_PHD pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 62 0 0.00 69 12 14.81 CHL1 0 genome.wustl.edu 37 3 404935 404935 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 404935 404935 G A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1454 p.R485K 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 62 0 0.00 36 10 21.74 CHST1 0 genome.wustl.edu 37 11 45671102 45671102 + RNA SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 45671102 45671102 A G SNP CHST1 ENST00000533673 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 88 0 0.00 85 7 7.61 CHTF8 0 genome.wustl.edu 37 16 69154483 69154483 + Missense_Mutation SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 69154483 69154483 C A SNP CHTF8 ENST00000398235 human ensembl 74_37 -1 known missense c.211 p.A71S 1.000 pfam_Chromosome_trans_fidel_Ctf8 pfam_Chromosome_trans_fidel_Ctf8 - no_errors CHTF8 HGNC ENSG00000168802 tier1 - - 57 0 0.00 41 5 10.87 CIB2 0 genome.wustl.edu 37 15 78401611 78401611 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 78401611 78401611 T C SNP CIB2 ENST00000557917 human ensembl 74_37 -1 known missense c.200 p.E67G 0.654 NULL NULL - no_errors CIB2 HGNC ENSG00000136425 tier1 - - 86 0 0.00 70 23 24.73 CLEC5A 0 genome.wustl.edu 37 7 141631337 141631337 + RNA SNP C C G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 141631337 141631337 C G SNP CLEC5A ENST00000470595 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors CLEC5A HGNC ENSG00000258227 tier1 - - 16 0 0.00 10 4 28.57 CNOT6 0 genome.wustl.edu 37 5 179994124 179994124 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 179994124 179994124 G A SNP CNOT6 ENST00000261951 human ensembl 74_37 +1 known missense c.754 p.V252I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 56 0 0.00 44 3 6.38 CNTNAP3 0 genome.wustl.edu 37 9 39149870 39149870 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 39149870 39149870 A C SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.1582 p.L528V 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 - - 89 0 0.00 75 13 14.77 COL11A1 0 genome.wustl.edu 37 1 103491143 103491143 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 103491143 103491143 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.960 p.E320D 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 53 0 0.00 29 24 45.28 COL5A1 0 genome.wustl.edu 37 9 137704471 137704471 + Silent SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 137704471 137704471 C A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.3765 p.G1255 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 38 0 0.00 22 12 35.29 CPNE4 0 genome.wustl.edu 37 3 131268914 131268914 + Silent SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 131268914 131268914 T G SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known silent c.1233 p.G411 0.954 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 39 0 0.00 57 11 15.94 CRMP1 0 genome.wustl.edu 37 4 5838626 5838626 + Silent SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 5838626 5838626 A G SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known silent c.1318 p.L440 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 58 0 0.00 48 9 15.79 CRTC3 0 genome.wustl.edu 37 15 91172647 91172647 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 91172647 91172647 T C SNP CRTC3 ENST00000268184 human ensembl 74_37 +1 known silent c.1149 p.S383 0.508 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 24 0 0.00 35 3 7.89 CSMD1 0 genome.wustl.edu 37 8 2832087 2832087 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 2832087 2832087 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8629 p.T2877P 0.997 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 50 0 0.00 35 3 7.89 CTSW 0 genome.wustl.edu 37 11 65650545 65650545 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 65650545 65650545 G T SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.751 p.A251S 0.800 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 tier1 - - 47 0 0.00 45 4 8.16 DCLRE1A 0 genome.wustl.edu 37 10 115609147 115609147 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 10 115609147 115609147 T C SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.1717 p.K573E 0.697 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 tier1 - - 42 0 0.00 40 7 14.89 DLG4 0 genome.wustl.edu 37 17 7099575 7099575 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 7099575 7099575 G A SNP DLG4 ENST00000399510 human ensembl 74_37 -1 known missense c.1394 p.S465F 1.000 pirsf_M-assoc_guanylate_kinase,superfamily_SH3_domain pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG4 HGNC ENSG00000132535 tier1 - - 66 0 0.00 36 27 42.86 DOCK2 0 genome.wustl.edu 37 5 169508960 169508960 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 169508960 169508960 A G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5402 p.K1801R 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 rs143896166 - 29 0 0.00 39 5 11.36 DYNC1H1 0 genome.wustl.edu 37 14 102510643 102510643 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 14 102510643 102510643 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.12717 p.P4239 0.006 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 53 0 0.00 33 15 31.25 DYNC2H1 0 genome.wustl.edu 37 11 103349922 103349922 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 103349922 103349922 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.12886 p.G4296R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 53 0 0.00 45 5 9.80 EGF 0 genome.wustl.edu 37 4 110929354 110929354 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 110929354 110929354 C T SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.3338 p.P1113L 0.000 pirsf_Pro-epidermal_GF pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 156 0 0.00 151 22 12.72 EIF5A2 0 genome.wustl.edu 37 3 170612162 170612162 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 170612162 170612162 T G SNP EIF5A2 ENST00000295822 human ensembl 74_37 -1 known missense c.321 p.E107D 0.999 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A2 HGNC ENSG00000163577 tier1 - - 81 0 0.00 74 13 14.94 ELK4 0 genome.wustl.edu 37 1 205589938 205589938 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 205589938 205589938 T G SNP ELK4 ENST00000357992 human ensembl 74_37 -1 known missense c.236 p.K79T 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK4 HGNC ENSG00000158711 tier1 - - 25 0 0.00 26 4 13.33 ELL2 0 genome.wustl.edu 37 5 95236437 95236437 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 95236437 95236437 G A SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.914 p.S305F 1.000 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 tier1 - - 43 0 0.00 35 5 12.50 ENPP6 0 genome.wustl.edu 37 4 185038014 185038014 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 185038014 185038014 A G SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known missense c.850 p.S284P 0.003 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 tier1 - - 50 0 0.00 39 6 13.33 ENSG00000221137 0 genome.wustl.edu 37 8 87670153 87670153 + RNA SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 87670153 87670153 C T SNP ENSG00000221137 ENST00000408210 human ensembl 74_37 -1 novel rna NULL NULL 0.252 - - - no_errors AC013751.1 Clone_based_ensembl_gene ENSG00000221137 tier1 - - 86 0 0.00 54 24 30.77 ENSG00000229180 0 genome.wustl.edu 37 7 66006391 66006391 + RNA SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 66006391 66006391 C T SNP ENSG00000229180 ENST00000449307 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GS1-124K5.11 Clone_based_vega_gene ENSG00000229180 tier1 - - 79 0 0.00 75 8 9.64 ENSG00000231064 0 genome.wustl.edu 37 1 155172948 155172948 + RNA SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 155172948 155172948 A G SNP ENSG00000231064 ENST00000430312 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-263K19.4 Clone_based_vega_gene ENSG00000231064 tier1 - - 81 0 0.00 60 10 14.29 ENSG00000232415 0 genome.wustl.edu 37 7 73474134 73474134 + RNA SNP C C G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 73474134 73474134 C G SNP ENSG00000232415 ENST00000435932 human ensembl 74_37 -1 known rna NULL NULL 0.085 - - - no_errors CTB-51J22.1 Clone_based_vega_gene ENSG00000232415 tier1 - - 76 0 0.00 49 53 51.96 ENSG00000240535 0 genome.wustl.edu 37 5 54329903 54329903 + RNA SNP G G C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 54329903 54329903 G C SNP ENSG00000240535 ENST00000595218 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2313F11.1 Clone_based_vega_gene ENSG00000240535 tier1 - - 9 0 0.00 10 4 28.57 ENSG00000257743 0 genome.wustl.edu 37 7 141864709 141864709 + Silent SNP C C G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 141864709 141864709 C G SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative silent c.2538 p.L846 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 34 0 0.00 42 20 32.26 ENSG00000258879 0 genome.wustl.edu 37 12 25170150 25170150 + RNA SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 25170150 25170150 T C SNP ENSG00000258879 ENST00000556060 human ensembl 74_37 +1 known rna NULL NULL 0.181 - - - no_errors RP11-713N11.5 Clone_based_vega_gene ENSG00000258879 tier1 - - 47 0 0.00 69 5 6.76 ENSG00000259966 0 genome.wustl.edu 37 16 32618989 32618989 + RNA SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 32618989 32618989 G A SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 32 0 0.00 17 33 66.00 ENSG00000270163 0 genome.wustl.edu 37 14 57267296 57267296 + RNA DEL A A - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 14 57267296 57267296 A - DEL ENSG00000270163 ENST00000602485 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1085N6.6 Clone_based_vega_gene ENSG00000270163 tier1 8 0 0.00 7 3 30.00 EPHA2 0 genome.wustl.edu 37 1 16461561 16461561 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 16461561 16461561 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1552 p.G518S 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 tier1 - - 62 0 0.00 41 28 40.58 ERBB2 0 genome.wustl.edu 37 17 37880988 37880989 + In_Frame_Ins INS - - TGA TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 37880988 37880989 - TGA INS ERBB2 ENST00000269571 human ensembl 74_37 +1 known in_frame_ins c.2317_2318 p.775in_frame_insM 1.000:1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 98 0 0.00 100 203 67.00 ERG 0 genome.wustl.edu 37 21 39755716 39755716 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 21 39755716 39755716 C T SNP ERG ENST00000398919 human ensembl 74_37 -1 known missense c.1070 p.R357H 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 47 0 0.00 34 3 8.11 ERLEC1 0 genome.wustl.edu 37 2 54045062 54045062 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 54045062 54045062 T G SNP ERLEC1 ENST00000185150 human ensembl 74_37 +1 known missense c.1408 p.L470V 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 tier1 - - 58 0 0.00 56 10 15.15 ESR1 0 genome.wustl.edu 37 6 152129213 152129213 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 152129213 152129213 G A SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.166 p.E56K 1.000 pfam_Oestr_rcpt,prints_Oestr_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 tier1 - - 37 0 0.00 35 9 20.45 ETAA1 0 genome.wustl.edu 37 2 67631322 67631322 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 67631322 67631322 T C SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.1508 p.L503P 0.000 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 tier1 - - 33 0 0.00 16 4 20.00 ETAA1 0 genome.wustl.edu 37 2 67631302 67631302 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 67631302 67631302 T C SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known silent c.1488 p.N496 0.002 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 28 0 0.00 18 2 10.00 EYA3 0 genome.wustl.edu 37 1 28315141 28315141 + Missense_Mutation SNP G G C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 28315141 28315141 G C SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.1445 p.T482S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 tier1 - - 40 0 0.00 16 13 44.83 FAM194A 0 genome.wustl.edu 37 3 150387187 150387187 + Silent SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 150387187 150387187 A C SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known silent c.1395 p.G465 0.259 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 tier1 - - 60 0 0.00 78 9 10.34 FAM230B 0 genome.wustl.edu 37 22 21537923 21537923 + RNA SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 22 21537923 21537923 A G SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.197 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 99 0 0.00 66 8 10.67 FAM230B 0 genome.wustl.edu 37 22 21538168 21538168 + RNA SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 22 21538168 21538168 G A SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 146 0 0.00 81 13 13.83 FAM65B 0 genome.wustl.edu 37 6 24843223 24843223 + Missense_Mutation SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 24843223 24843223 C A SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.1787 p.C596F 0.883 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 tier1 - - 38 0 0.00 37 5 11.90 FAM86C1 0 genome.wustl.edu 37 11 71498636 71498636 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 71498636 71498636 C T SNP FAM86C1 ENST00000359244 human ensembl 74_37 +1 known silent c.54 p.R18 0.638 NULL NULL - no_errors FAM86C1 HGNC ENSG00000158483 tier1 - - 62 0 0.00 160 11 6.43 FCRL6 0 genome.wustl.edu 37 1 159779891 159779891 + Missense_Mutation SNP A A T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 159779891 159779891 A T SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.894 p.Q298H 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 tier1 - - 67 0 0.00 70 20 22.22 FERMT2 0 genome.wustl.edu 37 14 53324533 53324533 + RNA SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 14 53324533 53324533 T A SNP FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 0.536 - - - no_errors FERMT2 HGNC ENSG00000073712 tier1 - - 32 0 0.00 18 7 28.00 FLT1 0 genome.wustl.edu 37 13 28897002 28897002 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 13 28897002 28897002 C T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2878 p.V960I 0.980 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 48 0 0.00 37 6 13.95 FMNL3 0 genome.wustl.edu 37 12 50041075 50041075 + Missense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 50041075 50041075 T A SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.2855 p.K952M 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 tier1 - - 57 0 0.00 42 5 10.64 FMO3 0 genome.wustl.edu 37 1 171086394 171086394 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 171086394 171086394 T G SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known missense c.1411 p.F471V 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 43 0 0.00 40 3 6.98 FOCAD 0 genome.wustl.edu 37 9 20770221 20770221 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 20770221 20770221 T G SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.890 p.V297G 0.928 NULL pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 tier1 - - 63 0 0.00 43 13 23.21 FOXR1 0 genome.wustl.edu 37 11 118850229 118850229 + Missense_Mutation SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 118850229 118850229 C A SNP FOXR1 ENST00000531539 human ensembl 74_37 +1 known missense c.391 p.P131T 0.996 NULL NULL - no_errors FOXR1 HGNC ENSG00000176302 tier1 - - 49 0 0.00 35 5 12.50 FOXRED2 0 genome.wustl.edu 37 22 36886088 36886088 + Frame_Shift_Del DEL A A - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 22 36886088 36886088 A - DEL FOXRED2 ENST00000216187 human ensembl 74_37 -1 known frame_shift_del c.2022 p.Q675fs 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 tier1 134 0 0.00 98 24 19.67 FTH1P10 0 genome.wustl.edu 37 5 17354477 17354477 + RNA SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 17354477 17354477 G A SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors FTH1P10 HGNC ENSG00000223361 tier1 - - 103 0 0.00 105 27 20.45 GAGE10 0 genome.wustl.edu 37 X 49161348 49161348 + Nonsense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc X 49161348 49161348 C T SNP GAGE10 ENST00000407599 human ensembl 74_37 +1 known nonsense c.10 p.R4* 0.000 pfam_GAGE pfam_GAGE - no_errors GAGE10 HGNC ENSG00000215274 tier1 - - 251 0 0.00 160 60 27.27 GALNT9 0 genome.wustl.edu 37 12 132811455 132811455 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 132811455 132811455 G A SNP GALNT9 ENST00000535228 human ensembl 74_37 -1 known missense c.233 p.T78M 0.001 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 tier1 - - 72 0 0.00 24 29 54.72 GLTSCR1 0 genome.wustl.edu 37 19 48197738 48197738 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 48197738 48197738 A C SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known missense c.2650 p.T884P 0.055 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 tier1 - - 50 0 0.00 35 6 14.63 GNAS 0 genome.wustl.edu 37 20 57429277 57429277 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 20 57429277 57429277 C T SNP GNAS ENST00000306120 human ensembl 74_37 +1 putative missense c.767 p.T256M 1.000 NULL NULL - no_errors GNAS HGNC ENSG00000087460 17 0 0.00 14 6 30.00 GPN1 0 genome.wustl.edu 37 2 27861756 27861756 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 27861756 27861756 A C SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known missense c.617 p.D206A 1.000 pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 39 0 0.00 30 7 18.92 GPR15 0 genome.wustl.edu 37 3 98251956 98251956 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 98251956 98251956 T C SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known missense c.1079 p.L360P 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 39 0 0.00 31 4 11.43 GRIN2C 0 genome.wustl.edu 37 17 72843625 72843625 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 72843625 72843625 G A SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.1823 p.A608V 0.996 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 tier1 - - 98 0 0.00 71 70 49.30 GRM1 0 genome.wustl.edu 37 6 146351241 146351241 + Silent SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 146351241 146351241 T G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.588 p.T196 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 30 0 0.00 45 9 16.67 GRN 0 genome.wustl.edu 37 17 42427872 42427872 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 42427872 42427872 C T SNP GRN ENST00000586782 human ensembl 74_37 +1 known missense c.505 p.H169Y 0.000 NULL pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 tier1 - - 44 0 0.00 27 22 44.90 HEG1 0 genome.wustl.edu 37 3 124739730 124739730 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 124739730 124739730 T C SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known silent c.1158 p.R386 0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 tier1 - - 52 0 0.00 37 12 24.49 HIST1H2AK 0 genome.wustl.edu 37 6 27805943 27805943 + Missense_Mutation SNP G G C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 27805943 27805943 G C SNP HIST1H2AK ENST00000330180 human ensembl 74_37 -1 known missense c.175 p.L59V 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 tier1 rs144042626 - 119 0 0.00 113 22 16.30 HIST1H3J 0 genome.wustl.edu 37 6 27858512 27858512 + Missense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 27858512 27858512 T A SNP HIST1H3J ENST00000359303 human ensembl 74_37 -1 known missense c.59 p.Q20L 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3J HGNC ENSG00000197153 70 0 0.00 55 4 6.78 HLA-DQB1-AS1 0 genome.wustl.edu 37 6 32628221 32628221 + RNA SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 32628221 32628221 G A SNP HLA-DQB1-AS1 ENST00000419852 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-DQB1-AS1 HGNC ENSG00000223534 tier1 rs9273491 - 9 0 0.00 5 4 44.44 HNRNPDL 0 genome.wustl.edu 37 4 83347753 83347753 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 83347753 83347753 T G SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known missense c.1055 p.N352T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 43 0 0.00 30 2 6.25 HSPA1B 0 genome.wustl.edu 37 6 31797421 31797421 + Missense_Mutation SNP C C G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 31797421 31797421 C G SNP HSPA1B ENST00000375650 human ensembl 74_37 +1 known missense c.1694 p.A565G 0.635 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1B HGNC ENSG00000204388 tier1 - - 71 0 0.00 48 6 11.11 HTR3E 0 genome.wustl.edu 37 3 183824434 183824434 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 183824434 183824434 T G SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known missense c.1369 p.F457V 0.369 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 tier1 - - 79 0 0.00 90 7 7.22 HYDIN 0 genome.wustl.edu 37 16 70874051 70874051 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 70874051 70874051 A G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.12959 p.F4320S 1.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 50 0 0.00 45 8 15.09 IGDCC3 0 genome.wustl.edu 37 15 65623958 65623958 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 65623958 65623958 G A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known silent c.1188 p.A396 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 - - 41 0 0.00 29 12 29.27 IGSF10 0 genome.wustl.edu 37 3 151164487 151164487 + Silent SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 151164487 151164487 A G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.3282 p.I1094 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 58 0 0.00 59 7 10.61 IGSF9 0 genome.wustl.edu 37 1 159898628 159898628 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 159898628 159898628 G A SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known silent c.2550 p.D850 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 11 0 0.00 13 3 18.75 IKZF2 0 genome.wustl.edu 37 2 213872531 213872531 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 213872531 213872531 G T SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.1134 p.N378K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 tier1 - - 44 0 0.00 21 5 19.23 IMPG2 0 genome.wustl.edu 37 3 100976579 100976579 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 100976579 100976579 T C SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.947 p.E316G 0.988 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 - - 33 0 0.00 29 6 17.14 INPP5F 0 genome.wustl.edu 37 10 121569640 121569640 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 10 121569640 121569640 A C SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.1598 p.K533T 1.000 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 tier1 - - 25 0 0.00 16 6 27.27 INSC 0 genome.wustl.edu 37 11 15199878 15199878 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 15199878 15199878 A G SNP INSC ENST00000379554 human ensembl 74_37 +1 known missense c.605 p.Q202R 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 tier1 - - 96 0 0.00 85 10 10.53 JAKMIP2 0 genome.wustl.edu 37 5 147040585 147040585 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 147040585 147040585 G A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.553 p.R185W 0.687 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 55 0 0.00 45 7 13.46 JARID2 0 genome.wustl.edu 37 6 15496868 15496868 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 15496868 15496868 G T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1412 p.G471V 0.889 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 44 0 0.00 26 2 7.14 KCNA3 0 genome.wustl.edu 37 1 111216094 111216094 + Silent SNP A A T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 111216094 111216094 A T SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.1338 p.G446 0.252 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 tier1 - - 58 0 0.00 51 4 7.14 KIAA1407 0 genome.wustl.edu 37 3 113729737 113729737 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 113729737 113729737 T G SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.1295 p.K432T 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 tier1 - - 27 0 0.00 26 4 13.33 KIF18B 0 genome.wustl.edu 37 17 43012682 43012682 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 43012682 43012682 C T SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.416 p.R139H 0.202 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 tier1 - - 54 0 0.00 37 27 41.54 KIF2B 0 genome.wustl.edu 37 17 51901055 51901055 + Silent SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 51901055 51901055 C A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.661 p.R221 0.984 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 26 0 0.00 11 5 31.25 KIF7 0 genome.wustl.edu 37 15 90177098 90177098 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 90177098 90177098 T G SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.2411 p.K804T 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 61 0 0.00 54 8 12.90 KRT37 0 genome.wustl.edu 37 17 39580586 39580586 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 39580586 39580586 G A SNP KRT37 ENST00000225550 human ensembl 74_37 -1 known missense c.190 p.R64C 0.010 NULL pfam_IF,prints_Keratin_I - no_errors KRT37 HGNC ENSG00000108417 tier1 - - 34 0 0.00 55 5 8.33 LAMA1 0 genome.wustl.edu 37 18 7079982 7079982 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 18 7079982 7079982 A C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.337 p.L113V 0.993 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 38 0 0.00 31 3 8.82 LASP1 0 genome.wustl.edu 37 17 37074945 37074945 + Nonsense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 37074945 37074945 C T SNP LASP1 ENST00000318008 human ensembl 74_37 +1 known nonsense c.700 p.Q234* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors LASP1 HGNC ENSG00000002834 tier1 - - 73 0 0.00 66 9 12.00 LIMCH1 0 genome.wustl.edu 37 4 41699388 41699388 + RNA DEL T T - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 41699388 41699388 T - DEL LIMCH1 ENST00000515785 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LIMCH1 HGNC ENSG00000064042 tier1 8 0 0.00 6 3 33.33 LINC00283 0 genome.wustl.edu 37 13 103397262 103397262 + RNA SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 13 103397262 103397262 C T SNP LINC00283 ENST00000430111 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors LINC00283 HGNC ENSG00000231633 tier1 - - 109 0 0.00 97 22 18.33 LINC00987 0 genome.wustl.edu 37 12 9393917 9393917 + RNA SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 9393917 9393917 T G SNP LINC00987 ENST00000427111 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00987 HGNC ENSG00000237248 tier1 - - 32 0 0.00 38 6 13.64 LOC101929271 0 genome.wustl.edu 37 4 100207959 100207959 + RNA SNP A A T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 100207959 100207959 A T SNP LOC101929271 ENST00000500358 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-696N14.1 Clone_based_vega_gene ENSG00000246090 tier1 - - 57 0 0.00 58 10 14.71 LOC101929735 0 genome.wustl.edu 37 14 22887365 22887365 + RNA SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 14 22887365 22887365 T G SNP LOC101929735 ENST00000537850 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AE000661.37 Clone_based_vega_gene ENSG00000251002 tier1 - - 66 0 0.00 43 11 20.37 LOC407835 0 genome.wustl.edu 37 7 128767493 128767493 + RNA SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 128767493 128767493 G A SNP LOC407835 ENST00000471777 human ensembl 74_37 +1 known rna NULL NULL 0.170 - - - no_errors RP11-286H14.4 Clone_based_vega_gene ENSG00000230626 tier1 - - 79 0 0.00 48 14 22.58 LRP2 0 genome.wustl.edu 37 2 170062083 170062083 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 170062083 170062083 A C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.7621 p.F2541V 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 69 0 0.00 61 7 10.29 LYST 0 genome.wustl.edu 37 1 235827307 235827307 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 235827307 235827307 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.11244 p.P3748 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 31 0 0.00 19 19 50.00 MAP3K19 0 genome.wustl.edu 37 2 135743638 135743638 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 135743638 135743638 T G SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.2804 p.K935T 0.040 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 65 0 0.00 39 3 6.98 MARCH4 0 genome.wustl.edu 37 2 217234868 217234868 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 217234868 217234868 T G SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known missense c.116 p.K39T 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 - - 48 0 0.00 36 6 14.29 MATN4 0 genome.wustl.edu 37 20 43927056 43927056 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 20 43927056 43927056 G T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.1303 p.R435S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 tier1 - - 53 0 0.00 39 21 35.00 MCC 0 genome.wustl.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 112824048 112824049 0 GCC INS MCC ENST00000408903 human ensembl 74_37 -1 putative in_frame_ins c.64_63 p.21in_frame_insG 0.854:0.894 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 8 0 0.00 13 5 27.78 MCFD2 0 genome.wustl.edu 37 2 47136240 47136240 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 47136240 47136240 G A SNP MCFD2 ENST00000319466 human ensembl 74_37 -1 known missense c.71 p.A24V 0.003 NULL pfscan_EF_hand_dom - no_errors MCFD2 HGNC ENSG00000180398 tier1 - - 55 0 0.00 42 10 19.23 MCTP2 0 genome.wustl.edu 37 15 94888377 94888377 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 94888377 94888377 G T SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.989 p.R330L 0.589 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 39 0 0.00 47 3 6.00 MDGA1 0 genome.wustl.edu 37 6 37626132 37626132 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 37626132 37626132 C T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.271 p.E91K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 - - 110 0 0.00 93 14 13.08 MED12L 0 genome.wustl.edu 37 3 151107893 151107893 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 151107893 151107893 T G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5473 p.F1825V 1.000 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 37 0 0.00 43 6 12.24 MED25 0 genome.wustl.edu 37 19 50338429 50338429 + Nonsense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 50338429 50338429 C T SNP MED25 ENST00000312865 human ensembl 74_37 +1 known nonsense c.1669 p.R557* 0.999 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 tier1 - - 55 0 0.00 45 23 33.82 MGAT4C 0 genome.wustl.edu 37 12 86373533 86373533 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 86373533 86373533 T C SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.1058 p.K353R 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 14 0 0.00 8 3 27.27 MIR335 0 genome.wustl.edu 37 7 130138218 130138218 + RNA SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 130138218 130138218 A C SNP MIR335 ENST00000604666 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-335 miRBase ENSG00000270823 tier1 - - 192 0 0.00 91 29 24.17 MMP2 0 genome.wustl.edu 37 16 55523591 55523591 + Missense_Mutation SNP A A T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 55523591 55523591 A T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.1035 p.E345D 0.995 pfam_Pept_M10_metallopeptidase,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 tier1 - - 97 0 0.00 84 13 13.27 MSH6 0 genome.wustl.edu 37 2 48018227 48018227 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 48018227 48018227 G T SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.422 p.G141V 1.000 pfam_PWWP_dom,smart_PWWP_dom,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 36 0 0.00 35 2 5.41 MTHFD1L 0 genome.wustl.edu 37 6 151265637 151265637 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 151265637 151265637 A G SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.1456 p.T486A 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 39 0 0.00 32 4 11.11 MUC21 0 genome.wustl.edu 37 6 30955326 30955326 + Silent SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 30955326 30955326 T G SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known silent c.1374 p.T458 0.000 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 tier1 - - 140 0 0.00 119 9 7.03 MYH7 0 genome.wustl.edu 37 14 23895180 23895180 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 14 23895180 23895180 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.2155 p.R719W 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 rs121913637 - 150 0 0.00 99 15 13.16 NALCN 0 genome.wustl.edu 37 13 101910908 101910908 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 13 101910908 101910908 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.1152 p.S384 0.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 36 0 0.00 12 4 25.00 NAV2 0 genome.wustl.edu 37 11 19970543 19970543 + Silent SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 19970543 19970543 A G SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.2631 p.E877 0.752 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 26 0 0.00 26 8 23.53 NDC80 0 genome.wustl.edu 37 18 2579004 2579004 + Silent SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 18 2579004 2579004 A G SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known silent c.555 p.L185 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 tier1 - - 69 0 0.00 74 16 17.78 NDUFAF5 0 genome.wustl.edu 37 20 13767912 13767912 + RNA SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 20 13767912 13767912 A C SNP NDUFAF5 ENST00000469177 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFAF5 HGNC ENSG00000101247 tier1 - - 30 0 0.00 33 5 13.16 NELL1 0 genome.wustl.edu 37 11 21306075 21306075 + RNA SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 21306075 21306075 T G SNP NELL1 ENST00000529218 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 28 0 0.00 37 6 13.95 NFKB1 0 genome.wustl.edu 37 4 103514703 103514703 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 103514703 103514703 G A SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known silent c.1188 p.G396 0.007 NULL pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 tier1 - - 55 0 0.00 30 23 43.40 NGFR 0 genome.wustl.edu 37 17 47583763 47583763 + Missense_Mutation SNP A A T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 47583763 47583763 A T SNP NGFR ENST00000172229 human ensembl 74_37 +1 known missense c.311 p.D104V 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 tier1 - - 47 0 0.00 32 4 11.11 NKPD1 0 genome.wustl.edu 37 19 45655825 45655825 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 45655825 45655825 G A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.1870 p.R624C 1.000 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 - - 60 0 0.00 25 11 30.56 NLGN4X 0 genome.wustl.edu 37 X 5821829 5821829 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc X 5821829 5821829 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.950 p.T317I 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 60 0 0.00 23 24 51.06 NLRP11 0 genome.wustl.edu 37 19 56329312 56329312 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 56329312 56329312 G A SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.229 p.R77C 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 tier1 - - 46 0 0.00 25 14 35.90 NOTCH1 0 genome.wustl.edu 37 9 139412339 139412339 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 139412339 139412339 A G SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.1306 p.F436L 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 51 0 0.00 45 3 6.25 NPIPB15 0 genome.wustl.edu 37 16 74423763 74423763 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 74423763 74423763 G A SNP NPIPB15 ENST00000429990 human ensembl 74_37 +1 known missense c.586 p.E196K 0.010 NULL NULL - no_errors NPIPB15 HGNC ENSG00000196436 tier1 - - 104 0 0.00 91 24 20.87 NPTX2 0 genome.wustl.edu 37 7 98254301 98254301 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 98254301 98254301 C T SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known silent c.711 p.Y237 0.535 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 tier1 - - 100 0 0.00 185 23 11.06 NUP210 0 genome.wustl.edu 37 3 13429807 13429807 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 13429807 13429807 T C SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.680 p.Y227C 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 23 0 0.00 19 7 26.92 OCA2 0 genome.wustl.edu 37 15 28200304 28200305 + Frame_Shift_Ins INS - - T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 28200304 28200305 - T INS OCA2 ENST00000354638 human ensembl 74_37 -1 known frame_shift_ins c.1842_1841 p.H615fs 1.000:1.000 pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 47 0 0.00 38 6 13.64 OLFM3 0 genome.wustl.edu 37 1 102269726 102269726 + RNA SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 102269726 102269726 C T SNP OLFM3 ENST00000462354 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 42 0 0.00 14 11 44.00 OR1K1 0 genome.wustl.edu 37 9 125562456 125562456 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 125562456 125562456 A C SNP OR1K1 ENST00000277309 human ensembl 74_37 +1 known missense c.55 p.T19P 0.090 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1K1 HGNC ENSG00000165204 tier1 - - 32 0 0.00 31 5 13.89 OR4D9 0 genome.wustl.edu 37 11 59282910 59282910 + Missense_Mutation SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 59282910 59282910 C A SNP OR4D9 ENST00000329328 human ensembl 74_37 +1 known missense c.525 p.D175E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 tier1 - - 79 0 0.00 81 40 33.06 OR4N4 0 genome.wustl.edu 37 15 22382597 22382597 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 22382597 22382597 A C SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.125 p.N42T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 154 0 0.00 160 22 12.09 OR5B12 0 genome.wustl.edu 37 11 58207475 58207475 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 58207475 58207475 G A SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known silent c.150 p.D50 0.927 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 tier1 - - 51 0 0.00 48 11 18.64 OR5H15 0 genome.wustl.edu 37 3 97887762 97887762 + Frame_Shift_Del DEL A A - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 97887762 97887762 A - DEL OR5H15 ENST00000356526 human ensembl 74_37 +1 known frame_shift_del c.219 p.S74fs 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 tier1 95 0 0.00 115 13 10.16 PACSIN1 0 genome.wustl.edu 37 6 34494067 34494067 + RNA SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 34494067 34494067 C A SNP PACSIN1 ENST00000486120 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PACSIN1 HGNC ENSG00000124507 tier1 - - 56 0 0.00 50 7 12.28 PARM1 0 genome.wustl.edu 37 4 75938258 75938258 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 75938258 75938258 A G SNP PARM1 ENST00000307428 human ensembl 74_37 +1 known missense c.667 p.T223A 0.000 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 tier1 - - 30 0 0.00 27 19 41.30 PARP4 0 genome.wustl.edu 37 13 25016815 25016815 + Missense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 13 25016815 25016815 T A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.3456 p.K1152N 0.998 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 58 0 0.00 47 8 14.55 PATZ1 0 genome.wustl.edu 37 22 31723129 31723131 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 22 31723129 31723131 CTT - DEL PATZ1 ENST00000266269 human ensembl 74_37 -1 known in_frame_del c.1812_1810 p.K604in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 tier1 33 0 0.00 23 4 14.81 PCDHA10 0 genome.wustl.edu 37 5 140236755 140236755 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 140236755 140236755 T C SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1122 p.S374 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 107 0 0.00 79 9 10.23 PCDHB12 0 genome.wustl.edu 37 5 140589229 140589229 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 140589229 140589229 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.750 p.K250 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 46 0 0.00 58 6 9.23 PCDHB6 0 genome.wustl.edu 37 5 140530084 140530084 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 140530084 140530084 T G SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.246 p.D82E 0.102 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 43 0 0.00 51 4 7.27 PCLO 0 genome.wustl.edu 37 7 82538208 82538208 + Silent SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 82538208 82538208 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.13422 p.S4474 1.000 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 tier1 - - 37 0 0.00 38 6 13.64 PCLO 0 genome.wustl.edu 37 7 82595624 82595624 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 82595624 82595624 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.3480 p.Q1160 0.818 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 tier1 - - 114 0 0.00 116 11 8.66 PCLO 0 genome.wustl.edu 37 7 82791691 82791691 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 82791691 82791691 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.218 p.P73L 0.998 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 tier1 - - 108 0 0.00 96 34 26.15 PCSK2 0 genome.wustl.edu 37 20 17389929 17389929 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 20 17389929 17389929 T G SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.565 p.F189V 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 tier1 - - 90 0 0.00 89 19 17.59 PDE4DIP 0 genome.wustl.edu 37 1 144892482 144892482 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 144892482 144892482 G A SNP PDE4DIP ENST00000369351 human ensembl 74_37 -1 known silent c.2923 p.L975 0.114 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 112 0 0.00 94 18 16.07 PDGFRB 0 genome.wustl.edu 37 5 149499620 149499620 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 149499620 149499620 C T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.2653 p.D885N 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 tier1 - - 54 0 0.00 31 8 20.51 PGM2L1 0 genome.wustl.edu 37 11 74056564 74056564 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 74056564 74056564 A G SNP PGM2L1 ENST00000298198 human ensembl 74_37 -1 known missense c.1168 p.S390P 1.000 pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC ENSG00000165434 tier1 - - 37 0 0.00 30 7 18.92 PHACTR2 0 genome.wustl.edu 37 6 144033198 144033198 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 144033198 144033198 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.92 p.T31I 0.006 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 43 0 0.00 30 3 9.09 PHYH 0 genome.wustl.edu 37 10 13337564 13337564 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 10 13337564 13337564 T G SNP PHYH ENST00000263038 human ensembl 74_37 -1 known missense c.177 p.K59N 0.997 NULL pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 tier1 - - 59 0 0.00 38 6 13.64 PI15 0 genome.wustl.edu 37 8 75761430 75761430 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 75761430 75761430 G A SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.719 p.C240Y 1.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 56 0 0.00 51 3 5.56 PILRB 0 genome.wustl.edu 37 7 99957139 99957139 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 99957139 99957139 C T SNP PILRB ENST00000448382 human ensembl 74_37 +1 known missense c.791 p.P264L 0.114 NULL NULL - no_errors PILRB HGNC ENSG00000121716 60 0 0.00 204 17 7.69 PKD1 0 genome.wustl.edu 37 16 2158502 2158502 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 2158502 2158502 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.6666 p.A2222 0.303 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 60 0 0.00 68 6 8.11 PLCL1 0 genome.wustl.edu 37 2 198953695 198953695 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 198953695 198953695 C T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.2829 p.V943 0.887 NULL 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_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 PLCL1 HGNC ENSG00000115896 tier1 - - 59 0 0.00 36 16 30.77 PLEC 0 genome.wustl.edu 37 8 144991310 144991310 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 144991310 144991310 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13090 p.L4364F 0.997 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 - - 31 0 0.00 28 8 22.22 PLEKHH2 0 genome.wustl.edu 37 2 43931168 43931168 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 43931168 43931168 G A SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.1699 p.A567T 0.996 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 41 0 0.00 56 4 6.67 PLEKHM1 0 genome.wustl.edu 37 17 43530941 43530941 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 43530941 43530941 G A SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known silent c.2277 p.A759 0.032 smart_Pleckstrin_homology pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 tier1 - - 32 0 0.00 32 26 44.83 PLGRKT 0 genome.wustl.edu 37 9 5431901 5431901 + Missense_Mutation SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 5431901 5431901 A G SNP PLGRKT ENST00000223864 human ensembl 74_37 -1 known missense c.77 p.L26P 1.000 pfam_DUF2368 pfam_DUF2368 - no_errors PLGRKT HGNC ENSG00000107020 14 0 0.00 33 3 8.33 PLOD2 0 genome.wustl.edu 37 3 145790411 145790411 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 145790411 145790411 T C SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known silent c.1785 p.K595 0.994 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 tier1 - - 45 0 0.00 37 8 17.78 PLXNA2 0 genome.wustl.edu 37 1 208200097 208200097 + RNA SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 208200097 208200097 T C SNP PLXNA2 ENST00000483048 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 50 0 0.00 22 28 56.00 POM121L9P 0 genome.wustl.edu 37 22 24648561 24648561 + RNA SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 22 24648561 24648561 C A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors POM121L9P HGNC ENSG00000128262 tier1 - - 68 0 0.00 28 14 33.33 POTEC 0 genome.wustl.edu 37 18 14522271 14522271 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 18 14522271 14522271 T G SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.1391 p.E464A 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 113 0 0.00 92 19 17.12 POTEH-AS1 0 genome.wustl.edu 37 22 16277923 16277923 + RNA SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 22 16277923 16277923 T G SNP POTEH-AS1 ENST00000422014 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors POTEH-AS1 HGNC ENSG00000236666 tier1 rs199574869 - 19 0 0.00 8 6 42.86 PRKRIP1 0 genome.wustl.edu 37 7 102066961 102066961 + RNA SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 102066961 102066961 T G SNP PRKRIP1 ENST00000482465 human ensembl 74_37 +1 known rna NULL NULL 0.067 - - - no_errors PRKRIP1 HGNC ENSG00000128563 tier1 - - 41 0 0.00 181 15 7.65 PRPF38B 0 genome.wustl.edu 37 1 109241944 109241944 + Silent SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 109241944 109241944 C A SNP PRPF38B ENST00000370025 human ensembl 74_37 +1 known silent c.943 p.R315 1.000 NULL pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 22 0 0.00 31 2 6.06 PRUNE2 0 genome.wustl.edu 37 9 79318714 79318714 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 79318714 79318714 T G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.6738 p.E2246D 0.053 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 51 0 0.00 54 4 6.90 PTPRVP 0 genome.wustl.edu 37 1 202156171 202156171 + RNA SNP G G C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 202156171 202156171 G C SNP PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 - - 38 0 0.00 37 4 9.76 PTPRVP 0 genome.wustl.edu 37 1 202156172 202156172 + RNA SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 202156172 202156172 A C SNP PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 - - 38 0 0.00 37 4 9.52 RAB34 0 genome.wustl.edu 37 17 27041593 27041593 + Silent SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 27041593 27041593 A C SNP RAB34 ENST00000453384 human ensembl 74_37 -1 known silent c.804 p.A268 0.013 smart_Small_GTPase_Ras pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB34 HGNC ENSG00000109113 tier1 - - 42 0 0.00 46 5 9.80 RAD54B 0 genome.wustl.edu 37 8 95384386 95384386 + RNA SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 95384386 95384386 A C SNP RAD54B ENST00000519348 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RAD54B HGNC ENSG00000197275 tier1 - - 58 0 0.00 68 9 11.69 RAG1 0 genome.wustl.edu 37 11 36597527 36597527 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 36597527 36597527 G A SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known silent c.2673 p.K891 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 tier1 - - 23 0 0.00 17 6 26.09 RANBP17 0 genome.wustl.edu 37 5 170610191 170610191 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 170610191 170610191 T C SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.1886 p.L629P 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 60 0 0.00 48 12 20.00 RAP2C 0 genome.wustl.edu 37 X 131348424 131348424 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc X 131348424 131348424 T C SNP RAP2C ENST00000342983 human ensembl 74_37 -1 known silent c.324 p.K108 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 tier1 - - 35 0 0.00 33 10 23.26 RASA1 0 genome.wustl.edu 37 5 86645099 86645099 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 86645099 86645099 C T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1171 p.R391W 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 47 0 0.00 44 10 18.52 RBM27 0 genome.wustl.edu 37 5 145647319 145647320 + Frame_Shift_Ins INS - - A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 145647319 145647320 - A INS RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_ins c.2439_2440 p.Q816fs 1.000:1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 47 0 0.00 37 8 17.78 RFXANK 0 genome.wustl.edu 37 19 19304837 19304837 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 19304837 19304837 G A SNP RFXANK ENST00000303088 human ensembl 74_37 +1 known missense c.82 p.G28R 0.000 pirsf_DNA-bd_RFXANK pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 tier1 - - 43 0 0.00 43 18 29.51 RHBDF1 0 genome.wustl.edu 37 16 109078 109078 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 109078 109078 C T SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.2042 p.R681Q 1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 tier1 - - 99 0 0.00 67 22 24.72 RIMS2 0 genome.wustl.edu 37 8 105080825 105080825 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 105080825 105080825 A C SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.2706 p.Q902H 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 31 0 0.00 27 4 12.90 RNF213 0 genome.wustl.edu 37 17 78346353 78346353 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 78346353 78346353 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.12570 p.S4190 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 66 0 0.00 72 9 11.11 RNF41 0 genome.wustl.edu 37 12 56607827 56607827 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 56607827 56607827 C T SNP RNF41 ENST00000345093 human ensembl 74_37 -1 known missense c.5 p.G2E 1.000 NULL pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 tier1 - - 30 0 0.00 26 5 16.13 RNF43 0 genome.wustl.edu 37 17 56439977 56439977 + Silent SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 56439977 56439977 C A SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known silent c.615 p.V205 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 - - 80 0 0.00 63 10 13.70 RPS6KL1 0 genome.wustl.edu 37 14 75376518 75376518 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 14 75376518 75376518 G T SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known missense c.998 p.A333D 0.001 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_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 tier1 - - 109 0 0.00 83 23 21.70 SAE1 0 genome.wustl.edu 37 19 47653535 47653535 + Nonsense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 47653535 47653535 T A SNP SAE1 ENST00000270225 human ensembl 74_37 +1 known nonsense c.287 p.L96* 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC ENSG00000142230 tier1 - - 85 0 0.00 58 11 15.94 SCG2 0 genome.wustl.edu 37 2 224463745 224463745 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 224463745 224463745 C T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.256 p.V86I 0.251 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 tier1 - - 70 0 0.00 58 13 18.31 SCN8A 0 genome.wustl.edu 37 12 52162882 52162882 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 52162882 52162882 C T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.3135 p.I1045 0.246 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 49 0 0.00 27 5 15.62 SEC16A 0 genome.wustl.edu 37 9 139342035 139342035 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 139342035 139342035 T C SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.6545 p.Y2182C 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 55 0 0.00 56 16 21.92 SHB 0 genome.wustl.edu 37 9 37919868 37919868 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 37919868 37919868 C T SNP SHB ENST00000377707 human ensembl 74_37 -1 known missense c.1480 p.G494R 1.000 pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHB HGNC ENSG00000107338 tier1 - - 76 0 0.00 66 24 26.67 SHISA9 0 genome.wustl.edu 37 16 13329093 13329093 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 13329093 13329093 T C SNP SHISA9 ENST00000558583 human ensembl 74_37 +1 known missense c.1225 p.F409L 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 tier1 - - 72 0 0.00 76 7 8.43 SIGLEC6 0 genome.wustl.edu 37 19 52034756 52034756 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 52034756 52034756 G A SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known missense c.85 p.R29W 0.000 NULL pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 tier1 - - 55 0 0.00 44 6 12.00 SIX5 0 genome.wustl.edu 37 19 46269143 46269143 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 46269143 46269143 G A SNP SIX5 ENST00000317578 human ensembl 74_37 -1 known silent c.1836 p.H612 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX5 HGNC ENSG00000177045 tier1 - - 108 0 0.00 88 44 33.08 SLC10A3 0 genome.wustl.edu 37 X 153716993 153716993 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc X 153716993 153716993 G T SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known missense c.287 p.A96D 0.629 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 tier1 - - 62 0 0.00 69 4 5.48 SLC12A2 0 genome.wustl.edu 37 5 127487078 127487079 + Frame_Shift_Ins INS - - A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 127487078 127487079 - A INS SLC12A2 ENST00000262461 human ensembl 74_37 +1 known frame_shift_ins c.2253_2254 p.P753fs 1.000:1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 tier1 68 0 0.00 69 14 16.87 SLC25A38 0 genome.wustl.edu 37 3 39431019 39431019 + Missense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 39431019 39431019 T A SNP SLC25A38 ENST00000273158 human ensembl 74_37 +1 known missense c.103 p.S35T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 tier1 - - 91 0 0.00 85 12 12.37 SLC51B 0 genome.wustl.edu 37 15 65345468 65345468 + Frame_Shift_Del DEL T T - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 65345468 65345468 T - DEL SLC51B ENST00000334287 human ensembl 74_37 +1 known frame_shift_del c.353 p.F119fs 0.004 NULL NULL - no_errors SLC51B HGNC ENSG00000186198 tier1 39 0 0.00 36 2 5.26 SLC9A5 0 genome.wustl.edu 37 16 67304975 67304975 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 67304975 67304975 T C SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known silent c.2553 p.S851 0.817 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 tier1 - - 40 0 0.00 58 10 14.71 SLIT1 0 genome.wustl.edu 37 10 98820457 98820457 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 10 98820457 98820457 T C SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.881 p.D294G 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 tier1 - - 66 0 0.00 48 18 27.27 SLITRK5 0 genome.wustl.edu 37 13 88328847 88328847 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 13 88328847 88328847 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1204 p.A402T 0.967 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 20 0 0.00 20 3 13.04 SMG1 0 genome.wustl.edu 37 16 18887619 18887619 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 18887619 18887619 T G SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.1717 p.T573P 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 - - 253 0 0.00 238 29 10.86 SNHG8 0 genome.wustl.edu 37 4 119200114 119200114 + RNA SNP C C G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 119200114 119200114 C G SNP SNHG8 ENST00000602414 human ensembl 74_37 +1 known rna NULL NULL 0.645 - - - no_errors SNHG8 HGNC ENSG00000269893 tier1 - - 8 0 0.00 6 6 50.00 SOX5 0 genome.wustl.edu 37 12 23687389 23687389 + Missense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 23687389 23687389 T A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.2056 p.M686L 0.996 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 - - 28 0 0.00 31 5 13.89 SSBP2 0 genome.wustl.edu 37 5 80742690 80742690 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 80742690 80742690 C T SNP SSBP2 ENST00000320672 human ensembl 74_37 -1 known missense c.775 p.A259T 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 tier1 - - 61 0 0.00 40 5 11.11 ST8SIA2 0 genome.wustl.edu 37 15 92987970 92987970 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 92987970 92987970 T C SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known missense c.653 p.V218A 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 tier1 - - 64 0 0.00 68 22 24.44 SYCP2L 0 genome.wustl.edu 37 6 10955446 10955446 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 10955446 10955446 G A SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known silent c.2052 p.L684 0.129 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 tier1 - - 34 0 0.00 21 5 19.23 TBC1D3P2 0 genome.wustl.edu 37 17 60342145 60342145 + RNA SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 60342145 60342145 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 tier1 - - 22 0 0.00 22 7 24.14 TCERG1 0 genome.wustl.edu 37 5 145838890 145838890 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 145838890 145838890 G A SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.882 p.Q294 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 - - 76 0 0.00 63 21 25.00 TECRL 0 genome.wustl.edu 37 4 65170930 65170930 + Silent SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 65170930 65170930 A G SNP TECRL ENST00000381210 human ensembl 74_37 -1 known silent c.684 p.T228 0.998 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 tier1 - - 28 0 0.00 21 9 30.00 TGFBR3 0 genome.wustl.edu 37 1 92327064 92327064 + Missense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 92327064 92327064 T A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.25 p.I9F 0.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 tier1 - - 33 0 0.00 19 11 36.67 THEMIS 0 genome.wustl.edu 37 6 128151008 128151008 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 128151008 128151008 C T SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.322 p.G108R 1.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 tier1 rs199738235 - 40 0 0.00 30 15 33.33 TLE1 0 genome.wustl.edu 37 9 84235427 84235427 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 84235427 84235427 G A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.640 p.R214C 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 tier1 - - 49 0 0.00 34 6 15.00 TMC1 0 genome.wustl.edu 37 9 75431120 75431120 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 9 75431120 75431120 T C SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.1757 p.M586T 1.000 pfam_TMC pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 tier1 - - 42 0 0.00 40 7 14.89 TMEM161B 0 genome.wustl.edu 37 5 87493695 87493695 + RNA SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 5 87493695 87493695 G A SNP TMEM161B ENST00000515293 human ensembl 74_37 -1 known rna NULL NULL 0.190 - - - no_errors TMEM161B HGNC ENSG00000164180 tier1 - - 17 0 0.00 12 3 20.00 TP53 0 genome.wustl.edu 37 17 7577117 7577117 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 17 7577117 7577117 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.821 p.V274G 0.955 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 44 0 0.00 30 16 34.78 TRIM49B 0 genome.wustl.edu 37 11 49059498 49059498 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 11 49059498 49059498 T G SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.1328 p.L443R 0.160 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 tier1 - - 105 0 0.00 93 23 19.83 TRIM56 0 genome.wustl.edu 37 7 100730995 100730995 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 100730995 100730995 G A SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known silent c.402 p.G134 0.997 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 28 0 0.00 79 10 11.24 TRIM58 0 genome.wustl.edu 37 1 248039573 248039573 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 248039573 248039573 T C SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.1243 p.L415 0.883 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 tier1 - - 98 0 0.00 86 12 12.24 TSHB 0 genome.wustl.edu 37 1 115576592 115576592 + Splice_Site SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 115576592 115576592 A C SNP TSHB ENST00000256592 human ensembl 74_37 +1 known splice_site c.163-2 e2-2 0.993 - - - no_errors TSHB HGNC ENSG00000134200 tier1 - - 110 0 0.00 80 42 34.43 TSHZ2 0 genome.wustl.edu 37 20 51871026 51871026 + Silent SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 20 51871026 51871026 T G SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known silent c.1029 p.S343 0.016 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 - - 49 0 0.00 44 7 13.73 TTC31 0 genome.wustl.edu 37 2 74718460 74718460 + Silent SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 74718460 74718460 C A SNP TTC31 ENST00000442235 human ensembl 74_37 +1 known silent c.210 p.S70 0.002 NULL NULL - no_errors TTC31 HGNC ENSG00000115282 25 0 0.00 23 2 8.00 TTLL5 0 genome.wustl.edu 37 14 76211920 76211920 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 14 76211920 76211920 T C SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.1483 p.Y495H 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 53 0 0.00 29 3 9.38 TUBE1 0 genome.wustl.edu 37 6 112397266 112397266 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 6 112397266 112397266 T G SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known missense c.686 p.K229T 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 tier1 - - 33 0 0.00 39 10 20.41 UBA6-AS1 0 genome.wustl.edu 37 4 68928601 68928601 + RNA SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 4 68928601 68928601 A C SNP UBA6-AS1 ENST00000500538 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 tier1 - - 58 0 0.00 53 8 13.11 UBR4 0 genome.wustl.edu 37 1 19454777 19454777 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 19454777 19454777 T G SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.9039 p.E3013D 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 50 0 0.00 49 6 10.91 USP21 0 genome.wustl.edu 37 1 161132109 161132109 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 161132109 161132109 G A SNP USP21 ENST00000289865 human ensembl 74_37 +1 known missense c.710 p.R237Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 tier1 - - 48 0 0.00 28 23 45.10 USP24 0 genome.wustl.edu 37 1 55573052 55573052 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 55573052 55573052 T G SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.4142 p.E1381A 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 57 0 0.00 50 7 12.28 VAPB 0 genome.wustl.edu 37 20 57009727 57009727 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 20 57009727 57009727 T G SNP VAPB ENST00000475243 human ensembl 74_37 +1 known missense c.281 p.F94C 1.000 pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPB HGNC ENSG00000124164 tier1 - - 65 0 0.00 49 17 25.76 VWA3A 0 genome.wustl.edu 37 16 22111591 22111591 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 22111591 22111591 G A SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.302 p.C101Y 0.011 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 tier1 - - 35 0 0.00 31 4 11.43 VWA5B1 0 genome.wustl.edu 37 1 20644152 20644152 + Silent SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 1 20644152 20644152 G T SNP VWA5B1 ENST00000289815 human ensembl 74_37 +1 known silent c.693 p.G231 0.999 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 54 0 0.00 46 3 6.12 WDFY4 0 genome.wustl.edu 37 10 50178291 50178291 + Missense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 10 50178291 50178291 T A SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.8885 p.L2962H 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 58 0 0.00 36 5 12.20 WDR11 0 genome.wustl.edu 37 10 122663626 122663626 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 10 122663626 122663626 G T SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.2999 p.C1000F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 22 0 0.00 8 2 20.00 WDR75 0 genome.wustl.edu 37 2 190340080 190340080 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 190340080 190340080 A C SNP WDR75 ENST00000314761 human ensembl 74_37 +1 known missense c.2430 p.K810N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 tier1 - - 36 0 0.00 31 4 11.43 WEE2-AS1 0 genome.wustl.edu 37 7 141427048 141427051 + RNA DEL AGAT AGAT - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 141427048 141427051 AGAT - DEL WEE2-AS1 ENST00000478332 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors WEE2-AS1 HGNC ENSG00000228775 tier1 91 0 0.00 58 29 33.33 WHAMMP2 0 genome.wustl.edu 37 15 28991207 28991207 + RNA SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 15 28991207 28991207 T G SNP WHAMMP2 ENST00000508764 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors WHAMMP2 HGNC ENSG00000248334 tier1 - - 82 0 0.00 70 21 23.08 WNT5A 0 genome.wustl.edu 37 3 55503953 55503953 + RNA SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 55503953 55503953 T C SNP WNT5A ENST00000493406 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WNT5A HGNC ENSG00000114251 tier1 - - 44 0 0.00 17 12 41.38 XDH 0 genome.wustl.edu 37 2 31567572 31567572 + Silent SNP A A G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 2 31567572 31567572 A G SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.3382 p.L1128 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 tier1 - - 90 0 0.00 44 35 44.30 XPOT 0 genome.wustl.edu 37 12 64816998 64816998 + Missense_Mutation SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 12 64816998 64816998 G T SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.1156 p.D386Y 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 tier1 - - 66 0 0.00 76 4 5.00 ZC3H3 0 genome.wustl.edu 37 8 144621396 144621396 + Silent SNP G G T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 144621396 144621396 G T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.141 p.G47 0.750 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 85 0 0.00 67 4 5.63 ZFP30 0 genome.wustl.edu 37 19 38126363 38126363 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 38126363 38126363 C T SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.1079 p.G360E 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 ZFP30 HGNC ENSG00000120784 tier1 - - 58 0 0.00 54 5 8.47 ZKSCAN7 0 genome.wustl.edu 37 3 44612745 44612745 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 3 44612745 44612745 G A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.2143 p.G715R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 tier1 - - 87 0 0.00 68 7 9.33 ZNF254 0 genome.wustl.edu 37 19 24309961 24309961 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 24309961 24309961 T G SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known missense c.1159 p.F387V 0.992 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 ZNF254 HGNC ENSG00000213096 35 0 0.00 43 3 6.52 ZNF263 0 genome.wustl.edu 37 16 3333830 3333830 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 16 3333830 3333830 C T SNP ZNF263 ENST00000219069 human ensembl 74_37 +1 known silent c.12 p.G4 0.000 NULL pfam_Znf_C2H2,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 tier1 - - 31 0 0.00 32 10 23.81 ZNF285 0 genome.wustl.edu 37 19 44890666 44890666 + Nonsense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 44890666 44890666 G A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known nonsense c.1741 p.Q581* 0.114 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 ZNF285 HGNC ENSG00000267508 tier1 - - 92 0 0.00 62 6 8.82 ZNF285 0 genome.wustl.edu 37 19 44892266 44892266 + Splice_Site SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 44892266 44892266 T C SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known splice_site c.143-2 e3-2 0.017 - - - no_errors ZNF285 HGNC ENSG00000267508 10 0 0.00 7 3 30.00 ZNF521 0 genome.wustl.edu 37 18 22806956 22806956 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 18 22806956 22806956 T G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.926 p.K309T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 79 0 0.00 91 10 9.90 ZNF534 0 genome.wustl.edu 37 19 52941308 52941308 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 52941308 52941308 T C SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known missense c.634 p.S212P 0.243 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 tier1 - - 26 0 0.00 18 5 21.74 ZNF616 0 genome.wustl.edu 37 19 52619801 52619801 + Missense_Mutation SNP T T A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 52619801 52619801 T A SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.616 p.I206L 0.001 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 ZNF616 HGNC ENSG00000204611 tier1 - - 67 0 0.00 87 15 14.71 ZNF676 0 genome.wustl.edu 37 19 22375898 22375898 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 22375898 22375898 T C SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.50 p.K17R 0.335 superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 86 0 0.00 59 35 37.23 ZNF677 0 genome.wustl.edu 37 19 53741702 53741702 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 53741702 53741702 T C SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.278 p.N93S 0.001 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 ZNF677 HGNC ENSG00000197928 tier1 - - 59 0 0.00 43 7 14.00 ZNF677 0 genome.wustl.edu 37 19 53747121 53747121 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 19 53747121 53747121 T C SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.45 p.I15M 0.864 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 ZNF677 HGNC ENSG00000197928 tier1 - - 70 0 0.00 54 15 21.74 ZNF707 0 genome.wustl.edu 37 8 144776365 144776365 + Missense_Mutation SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 8 144776365 144776365 T C SNP ZNF707 ENST00000358656 human ensembl 74_37 +1 known missense c.781 p.S261P 0.001 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 ZNF707 HGNC ENSG00000181135 tier1 - - 51 0 0.00 36 7 16.28 ZNF713 0 genome.wustl.edu 37 7 56007556 56007556 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c810202c-4f14-44fd-a6bd-9444a3e129d2 4193b59f-a175-4ab2-844b-1975c5563fbc 7 56007556 56007556 C T SNP ZNF713 ENST00000429591 human ensembl 74_37 +1 known missense c.1150 p.P384S 0.997 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 ZNF713 HGNC ENSG00000178665 tier1 - - 40 0 0.00 32 17 34.69