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 ABCC9 0 genome.wustl.edu 37 12 21995350 21995350 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 21995350 21995350 G T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3371 p.A1124D 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 42 0 0.00 61 4 6.15 ABHD8 0 genome.wustl.edu 37 19 17411829 17411829 + Silent SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 17411829 17411829 C G SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known silent c.597 p.V199 0.052 prints_Epox_hydrolase-like pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 tier1 - - 30 0 0.00 55 11 16.67 ABHD8 0 genome.wustl.edu 37 19 17412239 17412239 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 17412239 17412239 C A SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known missense c.187 p.A63S 0.000 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 22 0 0.00 14 10 41.67 ADAM29 0 genome.wustl.edu 37 4 175898320 175898320 + Missense_Mutation SNP T T A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 175898320 175898320 T A SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1644 p.D548E 0.001 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM29 HGNC ENSG00000168594 tier1 - - 28 0 0.00 28 6 17.65 AHRR 0 genome.wustl.edu 37 5 432961 432961 + Silent SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 5 432961 432961 A G SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.1077 p.E359 0.000 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 tier1 - - 34 0 0.00 12 7 36.84 AK5 0 genome.wustl.edu 37 1 77949036 77949036 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 77949036 77949036 C G SNP AK5 ENST00000354567 human ensembl 74_37 +1 known missense c.1094 p.T365S 0.040 NULL pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 tier1 - - 58 0 0.00 71 29 29.00 ALDH1L1 0 genome.wustl.edu 37 3 125824715 125824715 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 125824715 125824715 G A SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.2507 p.S836F 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 34 0 0.00 39 3 7.14 ALK 0 genome.wustl.edu 37 2 29917827 29917827 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 29917827 29917827 G T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.841 p.H281N 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 19 0 0.00 18 10 35.71 ANK1 0 genome.wustl.edu 37 8 41581100 41581100 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 8 41581100 41581100 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.763 p.V255M 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 56 0 0.00 90 17 15.89 ANK2 0 genome.wustl.edu 37 4 114279791 114279791 + Silent SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 114279791 114279791 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.10017 p.A3339 0.380 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 21 0 0.00 20 6 23.08 ANKRD20A11P 0 genome.wustl.edu 37 21 15313135 15313135 + Splice_Site SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 21 15313135 15313135 C T SNP ANKRD20A11P ENST00000428576 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.158 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier1 - - 55 0 0.00 55 20 26.67 ANKRD20A5P 0 genome.wustl.edu 37 18 14184340 14184341 + RNA INS - - T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 18 14184340 14184341 - T INS ANKRD20A5P ENST00000581935 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 15 0 0.00 5 3 37.50 AP2B1 0 genome.wustl.edu 37 17 34044277 34044277 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 34044277 34044277 G T SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.2690 p.G897V 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 tier1 - - 52 0 0.00 30 18 37.50 AP3S1 0 genome.wustl.edu 37 5 115249588 115249588 + RNA SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 5 115249588 115249588 G A SNP AP3S1 ENST00000505423 human ensembl 74_37 +1 putative rna NULL NULL 0.013 - - - no_errors AP3S1 HGNC ENSG00000177879 tier1 rs6895932 - 32 0 0.00 31 5 13.89 APLP1 0 genome.wustl.edu 37 19 36368698 36368698 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 36368698 36368698 G T SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1523 p.G508V 0.858 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 tier1 - - 12 0 0.00 39 8 17.02 ARGLU1 0 genome.wustl.edu 37 13 107211906 107211906 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 13 107211906 107211906 C A SNP ARGLU1 ENST00000400198 human ensembl 74_37 -1 known missense c.447 p.R149S 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 tier1 - - 104 0 0.00 66 64 49.23 ARHGAP35 0 genome.wustl.edu 37 19 47503672 47503672 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 47503672 47503672 C A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.4227 p.F1409L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 tier1 - - 27 0 0.00 22 15 40.54 ARHGEF18 0 genome.wustl.edu 37 19 7523441 7523442 + Frame_Shift_Del DEL GG GG - TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 7523441 7523442 GG - DEL ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known frame_shift_del c.1661_1662 p.E555fs 1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 tier1 57 0 0.00 25 14 35.90 ASB13 0 genome.wustl.edu 37 10 5682028 5682028 + RNA SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 5682028 5682028 C T SNP ASB13 ENST00000479033 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ASB13 HGNC ENSG00000196372 tier1 - - 30 0 0.00 48 6 10.91 ASIC4 0 genome.wustl.edu 37 2 220396750 220396750 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 220396750 220396750 G C SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known missense c.1136 p.R379P 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 tier1 - - 18 0 0.00 6 19 76.00 ATP10D 0 genome.wustl.edu 37 4 47589054 47589054 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 47589054 47589054 G T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.3772 p.V1258F 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 tier1 - - 66 0 0.00 82 47 36.43 AZU1 0 genome.wustl.edu 37 19 828365 828365 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 828365 828365 C T SNP AZU1 ENST00000233997 human ensembl 74_37 +1 known missense c.194 p.A65V 0.009 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors AZU1 HGNC ENSG00000172232 tier1 - - 12 0 0.00 4 11 73.33 BAZ2A 0 genome.wustl.edu 37 12 56994255 56994255 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 56994255 56994255 G A SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.4628 p.P1543L 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 24 0 0.00 13 25 65.79 BOD1L1 0 genome.wustl.edu 37 4 13601756 13601756 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 13601756 13601756 G C SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.6768 p.I2256M 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 40 0 0.00 35 16 31.37 C10orf115 0 genome.wustl.edu 37 10 23512720 23512720 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 23512720 23512720 T C SNP C10orf115 ENST00000376501 human ensembl 74_37 -1 known missense c.94 p.R32G 0.045 NULL NULL - no_errors C10orf115 HGNC ENSG00000204566 tier1 - - 30 0 0.00 22 30 57.69 C10orf53 0 genome.wustl.edu 37 10 50916563 50916563 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 50916563 50916563 C T SNP C10orf53 ENST00000374112 human ensembl 74_37 +1 known missense c.374 p.S125L 0.010 NULL NULL - no_errors C10orf53 HGNC ENSG00000178645 tier1 - - 90 0 0.00 162 31 16.06 C14orf37 0 genome.wustl.edu 37 14 58604834 58604834 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 14 58604834 58604834 G T SNP C14orf37 ENST00000267485 human ensembl 74_37 -1 known missense c.1243 p.L415I 0.003 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 tier1 - - 53 0 0.00 43 4 8.51 C17orf50 0 genome.wustl.edu 37 17 34091541 34091541 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 34091541 34091541 G C SNP C17orf50 ENST00000285023 human ensembl 74_37 +1 known missense c.429 p.K143N 1.000 NULL NULL - no_errors C17orf50 HGNC ENSG00000154768 tier1 - - 25 0 0.00 19 8 29.63 C20orf27 0 genome.wustl.edu 37 20 3734755 3734755 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 20 3734755 3734755 C A SNP C20orf27 ENST00000217195 human ensembl 74_37 -1 known missense c.550 p.A184S 0.997 NULL NULL - no_errors C20orf27 HGNC ENSG00000101220 tier1 - - 15 0 0.00 4 6 60.00 CAPRIN2 0 genome.wustl.edu 37 12 30873757 30873757 + Silent SNP T T A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 30873757 30873757 T A SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known silent c.2136 p.S712 0.998 pfam_Caprin-1_C pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 tier1 - - 25 0 0.00 30 9 23.08 CCDC22 0 genome.wustl.edu 37 X 49093493 49093493 + RNA SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 X 49093493 49093493 G C SNP CCDC22 ENST00000490300 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC22 HGNC ENSG00000101997 tier1 - - 18 0 0.00 31 12 27.91 CCDC37 0 genome.wustl.edu 37 3 126137616 126137616 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 126137616 126137616 G T SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.652 p.A218S 0.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 tier1 - - 44 0 0.00 61 10 14.08 CCDC58 0 genome.wustl.edu 37 3 122087027 122087027 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 122087027 122087027 G T SNP CCDC58 ENST00000291458 human ensembl 74_37 -1 known missense c.320 p.T107K 1.000 pfam_Caffeine_induced_death_Cid2 pfam_Caffeine_induced_death_Cid2 - no_errors CCDC58 HGNC ENSG00000160124 tier1 - - 22 0 0.00 50 15 23.08 CCDC64B 0 genome.wustl.edu 37 16 3079364 3079364 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 3079364 3079364 C G SNP CCDC64B ENST00000389347 human ensembl 74_37 -1 known missense c.1024 p.E342Q 1.000 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC ENSG00000162069 tier1 - - 30 0 0.00 8 7 46.67 CD34 0 genome.wustl.edu 37 1 208070876 208070876 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 208070876 208070876 G C SNP CD34 ENST00000310833 human ensembl 74_37 -1 known missense c.559 p.Q187E 0.002 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 tier1 - - 16 0 0.00 31 6 16.22 CDC27 0 genome.wustl.edu 37 17 45219311 45219311 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 45219311 45219311 T C SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.1477 p.I493V 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 rs140737545 - 33 0 0.00 35 6 14.63 CFL1 0 genome.wustl.edu 37 11 65623715 65623715 + Splice_Site SNP T T A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 65623715 65623715 T A SNP CFL1 ENST00000308162 human ensembl 74_37 -1 known splice_site c.4-2 e2-2 0.997 - - - no_errors CFL1 HGNC ENSG00000172757 tier1 - - 26 0 0.00 24 8 25.00 CGNL1 0 genome.wustl.edu 37 15 57754058 57754058 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 57754058 57754058 G T SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.2371 p.A791S 1.000 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 - - 45 0 0.00 64 4 5.88 CHAT 0 genome.wustl.edu 37 10 50854688 50854688 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 50854688 50854688 G A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.1249 p.G417R 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 - - 23 0 0.00 29 24 45.28 CHKB 0 genome.wustl.edu 37 22 51018462 51018462 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 22 51018462 51018462 G T SNP CHKB ENST00000406938 human ensembl 74_37 -1 known missense c.868 p.H290N 0.720 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 46 0 0.00 41 3 6.82 CLN6 0 genome.wustl.edu 37 15 68504072 68504072 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 68504072 68504072 G T SNP CLN6 ENST00000249806 human ensembl 74_37 -1 known missense c.427 p.Q143K 1.000 NULL NULL - no_errors CLN6 HGNC ENSG00000128973 tier1 - - 30 0 0.00 29 16 35.56 CMTR2 0 genome.wustl.edu 37 16 71319539 71319539 + Silent SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 71319539 71319539 C A SNP CMTR2 ENST00000338099 human ensembl 74_37 -1 known silent c.285 p.A95 0.684 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors CMTR2 HGNC ENSG00000180917 tier1 - - 11 0 0.00 6 8 57.14 CNTN6 0 genome.wustl.edu 37 3 1339605 1339605 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 1339605 1339605 G C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.691 p.V231L 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 53 0 0.00 53 7 11.67 CNTN6 0 genome.wustl.edu 37 3 1444141 1444141 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 1444141 1444141 G T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2957 p.S986I 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 16 0 0.00 36 4 10.00 COG4 0 genome.wustl.edu 37 16 70546283 70546283 + Silent SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 70546283 70546283 G C SNP COG4 ENST00000323786 human ensembl 74_37 -1 known silent c.597 p.L199 1.000 pfam_COG_su4,smart_COG_su4 pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 tier1 - - 17 0 0.00 14 7 33.33 COPS5 0 genome.wustl.edu 37 8 67968797 67968797 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 8 67968797 67968797 T C SNP COPS5 ENST00000357849 human ensembl 74_37 -1 known missense c.616 p.I206V 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS5 HGNC ENSG00000121022 tier1 - - 36 0 0.00 26 10 27.78 CPSF1 0 genome.wustl.edu 37 8 145624685 145624685 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 8 145624685 145624685 A G SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.1373 p.L458P 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 43 0 0.00 20 12 37.50 CRIP3 0 genome.wustl.edu 37 6 43274241 43274241 + Missense_Mutation SNP T T G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 6 43274241 43274241 T G SNP CRIP3 ENST00000274990 human ensembl 74_37 -1 known missense c.343 p.K115Q 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP3 HGNC ENSG00000146215 tier1 - - 18 0 0.00 23 5 17.86 CSPG4 0 genome.wustl.edu 37 15 75980366 75980366 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 75980366 75980366 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.3040 p.V1014M 0.418 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 43 0 0.00 71 15 17.44 CUBN 0 genome.wustl.edu 37 10 17171716 17171716 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 17171716 17171716 T C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.49 p.I17V 0.004 NULL pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 65 0 0.00 94 33 25.98 DCLRE1C 0 genome.wustl.edu 37 10 14950954 14950954 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 14950954 14950954 G T SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.1532 p.T511K 0.957 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 36 0 0.00 64 19 22.89 DCLRE1C 0 genome.wustl.edu 37 10 14950955 14950955 + Missense_Mutation SNP T T G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 14950955 14950955 T G SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.1531 p.T511P 0.958 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 35 0 0.00 64 19 22.89 DDIT4 0 genome.wustl.edu 37 10 74034859 74034859 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 74034859 74034859 C T SNP DDIT4 ENST00000307365 human ensembl 74_37 +1 known silent c.612 p.F204 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4 HGNC ENSG00000168209 tier1 - - 29 0 0.00 20 17 45.95 DNAH2 0 genome.wustl.edu 37 17 7719967 7719967 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 7719967 7719967 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.9808 p.E3270K 0.992 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 68 0 0.00 49 21 30.00 DNAJC11 0 genome.wustl.edu 37 1 6694732 6694732 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 6694732 6694732 C T SNP DNAJC11 ENST00000349363 human ensembl 74_37 -1 known missense c.811 p.E271K 0.010 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 tier1 - - 29 0 0.00 26 13 33.33 DOCK10 0 genome.wustl.edu 37 2 225664979 225664979 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 225664979 225664979 G T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.4395 p.S1465R 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 12 0 0.00 36 4 10.00 DPP10 0 genome.wustl.edu 37 2 116525872 116525872 + Splice_Site SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 116525872 116525872 G T SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known splice_site c.1126-1 e13-1 1.000 - - - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 29 0 0.00 27 9 25.00 DPP6 0 genome.wustl.edu 37 7 154667636 154667636 + Missense_Mutation SNP A A T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 154667636 154667636 A T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1904 p.Q635L 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 95 0 0.00 24 30 55.56 DST 0 genome.wustl.edu 37 6 56470194 56470194 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 6 56470194 56470194 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.9133 p.G3045S 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 38 0 0.00 50 19 27.54 DST 0 genome.wustl.edu 37 6 56472332 56472332 + Missense_Mutation SNP A A C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 6 56472332 56472332 A C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.6995 p.I2332R 0.005 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 47 0 0.00 47 16 25.40 DYNC1I1 0 genome.wustl.edu 37 7 95457368 95457368 + Splice_Site SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 95457368 95457368 G A SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known splice_site c.366-1 e4-1 1.000 - - - no_errors DYNC1I1 HGNC ENSG00000158560 tier1 - - 82 0 0.00 74 57 43.51 DYNC1I2 0 genome.wustl.edu 37 2 172585301 172585301 + Silent SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 172585301 172585301 C A SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1332 p.V444 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 68 0 0.00 56 3 5.00 DYNC2H1 0 genome.wustl.edu 37 11 103031676 103031676 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 103031676 103031676 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.4394 p.C1465F 0.998 pfam_Dynein_heavy_dom-2 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 - - 27 0 0.00 38 4 9.52 EDC3 0 genome.wustl.edu 37 15 74925075 74925075 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 74925075 74925075 C T SNP EDC3 ENST00000315127 human ensembl 74_37 -1 known missense c.1405 p.E469K 1.000 superfamily_YjeF_N_dom pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 tier1 - - 40 0 0.00 53 5 8.62 EMC1 0 genome.wustl.edu 37 1 19559220 19559220 + Nonsense_Mutation SNP A A T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 19559220 19559220 A T SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known nonsense c.1680 p.Y560* 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 tier1 - - 54 0 0.00 52 16 23.53 ENSG00000216191 0 genome.wustl.edu 37 2 50923314 50923317 + RNA DEL GTGT GTGT - TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 50923314 50923317 GTGT - DEL ENSG00000216191 ENST00000401372 human ensembl 74_37 -1 novel rna NULL NULL 0.006:0.004:0.003:0.002 - - - no_errors AC009234.2 Clone_based_ensembl_gene ENSG00000216191 tier1 8 0 0.00 2 2 50.00 ENSG00000216197 0 genome.wustl.edu 37 21 43720386 43720387 + RNA DEL GT GT - TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 21 43720386 43720387 GT 0 DEL ENSG00000216197 ENST00000401378 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.000 - - - no_errors AP001623.1 Clone_based_ensembl_gene ENSG00000216197 51 0 0.00 97 7 6.73 ENSG00000225782 0 genome.wustl.edu 37 1 220835947 220835947 + RNA SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 220835947 220835947 A G SNP ENSG00000225782 ENST00000446040 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-322F10.2 Clone_based_vega_gene ENSG00000225782 tier1 - - 50 0 0.00 69 17 19.77 ENSG00000225946 0 genome.wustl.edu 37 7 100608197 100608198 + RNA INS - - GGG TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 100608197 100608198 - GGG INS ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 19 0 0.00 19 5 20.83 ENSG00000228242 0 genome.wustl.edu 37 3 14189622 14189622 + RNA SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 14189622 14189622 C T SNP ENSG00000228242 ENST00000420253 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC093495.4 Clone_based_vega_gene ENSG00000228242 tier1 - - 19 0 0.00 3 10 76.92 ENSG00000255622 0 genome.wustl.edu 37 5 140535760 140535760 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 5 140535760 140535760 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.184 p.A62T 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 tier1 - - 26 0 0.00 14 15 51.72 ENSG00000257607 0 genome.wustl.edu 37 7 1098155 1098155 + RNA SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 1098155 1098155 C A SNP ENSG00000257607 ENST00000549241 human ensembl 74_37 -1 known rna NULL NULL 0.755 - - - no_errors RP11-449P15.1 Clone_based_vega_gene ENSG00000257607 tier1 - - 10 0 0.00 2 5 71.43 ENSG00000259180 0 genome.wustl.edu 37 15 55972660 55972661 + RNA INS - - T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 55972660 55972661 - T INS ENSG00000259180 ENST00000561155 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-420M1.2 Clone_based_vega_gene ENSG00000259180 tier1 13 0 0.00 18 3 14.29 ENSG00000269026 0 genome.wustl.edu 37 19 58193488 58193488 + RNA SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 58193488 58193488 C T SNP ENSG00000269026 ENST00000599221 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC003006.7 Clone_based_vega_gene ENSG00000269026 tier1 - - 79 0 0.00 60 25 29.41 ENSG00000271401 0 genome.wustl.edu 37 2 179509452 179509452 + RNA SNP A A T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 179509452 179509452 A T SNP ENSG00000271401 ENST00000605021 human ensembl 74_37 +1 known rna NULL NULL 0.529 - - - no_errors RP11-171I2.3 Clone_based_vega_gene ENSG00000271401 tier1 - - 16 0 0.00 5 9 64.29 EPHA8 0 genome.wustl.edu 37 1 22903214 22903214 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 22903214 22903214 G A SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.664 p.D222N 1.000 pirsf_Tyr_kinase_ephrin_rcpt 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,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 EPHA8 HGNC ENSG00000070886 tier1 - - 50 0 0.00 46 24 34.29 ESPNP 0 genome.wustl.edu 37 1 17034125 17034126 + RNA INS - - AGCT TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 17034125 17034126 - AGCT INS ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 8 0 0.00 4 3 42.86 ESRRG 0 genome.wustl.edu 37 1 216741436 216741436 + Silent SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 216741436 216741436 C G SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known silent c.594 p.V198 0.978 superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 tier1 - - 39 0 0.00 85 10 10.53 ESYT2 0 genome.wustl.edu 37 7 158534278 158534278 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 158534278 158534278 C T SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known missense c.2185 p.A729T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 tier1 - - 60 0 0.00 32 11 25.00 FAM111A 0 genome.wustl.edu 37 11 58920609 58920609 + Nonsense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 58920609 58920609 C T SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known nonsense c.1468 p.Q490* 0.025 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 tier1 - - 22 0 0.00 10 5 33.33 FAM19A4 0 genome.wustl.edu 37 3 68802149 68802149 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 68802149 68802149 C T SNP FAM19A4 ENST00000295569 human ensembl 74_37 -1 known missense c.151 p.G51R 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A4 HGNC ENSG00000163377 tier1 - - 16 0 0.00 9 14 60.87 FAM230B 0 genome.wustl.edu 37 22 21538152 21538152 + RNA SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 22 21538152 21538152 C A SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 11 0 0.00 8 8 50.00 FAM27E3 0 genome.wustl.edu 37 9 67786176 67786176 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 67786176 67786176 G A SNP FAM27E3 ENST00000455764 human ensembl 74_37 -1 known missense c.79 p.R27C 0.010 NULL NULL - no_errors FAM27E3 HGNC ENSG00000232833 tier1 rs200531573 - 9 0 0.00 4 5 55.56 FAM86C2P 0 genome.wustl.edu 37 11 67560494 67560494 + RNA SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 67560494 67560494 T C SNP FAM86C2P ENST00000528089 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86C2P HGNC ENSG00000160172 58 0 0.00 41 3 6.82 FANCF 0 genome.wustl.edu 37 11 22647031 22647031 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 22647031 22647031 T C SNP FANCF ENST00000327470 human ensembl 74_37 -1 known missense c.326 p.Y109C 0.000 NULL NULL - no_errors FANCF HGNC ENSG00000183161 tier1 - - 47 0 0.00 13 20 60.61 FLJ40288 0 genome.wustl.edu 37 7 132412352 132412352 + Silent SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 132412352 132412352 G A SNP FLJ40288 ENST00000332558 human ensembl 74_37 +1 putative silent c.204 p.L68 0.001 NULL NULL - no_errors AC009365.3 Clone_based_vega_gene ENSG00000183470 tier1 - - 31 0 0.00 49 10 16.95 FNBP1 0 genome.wustl.edu 37 9 132681440 132681440 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 132681440 132681440 C A SNP FNBP1 ENST00000443566 human ensembl 74_37 -1 known missense c.52 p.V18F 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 tier1 - - 34 0 0.00 24 14 36.84 FNDC3A 0 genome.wustl.edu 37 13 49580412 49580412 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 13 49580412 49580412 A G SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.86 p.D29G 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 tier1 - - 36 0 0.00 18 11 37.93 FOCAD 0 genome.wustl.edu 37 9 20982419 20982419 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 20982419 20982419 G T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.4702 p.A1568S 0.166 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 31 0 0.00 23 2 8.00 FOXD4L5 0 genome.wustl.edu 37 9 70177146 70177146 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 70177146 70177146 C T SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.838 p.G280R 0.115 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 tier1 - - 61 0 0.00 83 11 11.70 GALE 0 genome.wustl.edu 37 1 24125155 24125155 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 24125155 24125155 C G SNP GALE ENST00000374497 human ensembl 74_37 -1 known missense c.187 p.E63Q 1.000 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_GalE pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_Male_sterile_NAD-bd,pfam_PKS_KR,prints_Nuc_sugar_epim,tigrfam_GalE - no_errors GALE HGNC ENSG00000117308 14 0 0.00 17 4 19.05 GGN 0 genome.wustl.edu 37 19 38876738 38876738 + Silent SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 38876738 38876738 G T SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.1164 p.G388 0.990 NULL NULL - no_errors GGN HGNC ENSG00000179168 tier1 - - 15 0 0.00 22 10 31.25 GOLGA6L4 0 genome.wustl.edu 37 15 84911216 84911216 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 84911216 84911216 C T SNP GOLGA6L4 ENST00000422563 human ensembl 74_37 +1 known missense c.625 p.P209S 0.000 NULL NULL - no_errors GOLGA6L4 HGNC ENSG00000184206 tier1 - - 36 0 0.00 35 8 18.60 GP6 0 genome.wustl.edu 37 19 55526285 55526285 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 55526285 55526285 G A SNP GP6 ENST00000310373 human ensembl 74_37 -1 known missense c.1028 p.A343V 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 tier1 - - 54 0 0.00 14 39 73.58 GP6 0 genome.wustl.edu 37 19 55526286 55526286 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 55526286 55526286 C A SNP GP6 ENST00000310373 human ensembl 74_37 -1 known missense c.1027 p.A343S 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 tier1 - - 54 0 0.00 13 40 75.47 GRIA1 0 genome.wustl.edu 37 5 153175034 153175034 + Splice_Site SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 5 153175034 153175034 A G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known splice_site c.2301-2 e14-2 1.000 - - - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 65 0 0.00 39 15 27.78 GRIK4 0 genome.wustl.edu 37 11 120776146 120776146 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 120776146 120776146 G C SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1420 p.G474R 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 17 0 0.00 7 8 53.33 GRK7 0 genome.wustl.edu 37 3 141499459 141499459 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 141499459 141499459 C T SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.856 p.R286C 0.033 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 tier1 - - 26 0 0.00 59 15 20.27 GSE1 0 genome.wustl.edu 37 16 85689343 85689343 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 85689343 85689343 C A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.809 p.S270Y 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 - - 39 0 0.00 19 9 32.14 H2AFV 0 genome.wustl.edu 37 7 44874131 44874131 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 44874131 44874131 A G SNP H2AFV ENST00000308153 human ensembl 74_37 -1 known missense c.356 p.I119T 1.000 smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFV HGNC ENSG00000105968 tier1 rs114398265 - 53 0 0.00 21 7 25.00 HEATR1 0 genome.wustl.edu 37 1 236751319 236751319 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 236751319 236751319 T C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.1555 p.K519E 0.993 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 44 0 0.00 67 22 24.72 HEPH 0 genome.wustl.edu 37 X 65411972 65411972 + Missense_Mutation SNP A A T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 X 65411972 65411972 A T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.1226 p.D409V 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 - - 20 0 0.00 34 21 38.18 HSD3B7 0 genome.wustl.edu 37 16 30999400 30999400 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 30999400 30999400 G T SNP HSD3B7 ENST00000297679 human ensembl 74_37 +1 known missense c.1006 p.D336Y 0.907 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 tier1 - - 49 0 0.00 49 11 18.33 HTATIP2 0 genome.wustl.edu 37 11 20388759 20388759 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 20388759 20388759 G T SNP HTATIP2 ENST00000419348 human ensembl 74_37 +1 known missense c.337 p.A113S 0.033 pfam_Semialdehyde_DH_NAD-bd pfam_Semialdehyde_DH_NAD-bd - no_errors HTATIP2 HGNC ENSG00000109854 28 0 0.00 40 3 6.98 HTRA1 0 genome.wustl.edu 37 10 124273783 124273783 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 124273783 124273783 G A SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.1351 p.V451I 0.997 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 tier1 rs149822364 - 74 0 0.00 13 19 59.38 ICAM2 0 genome.wustl.edu 37 17 62082482 62082482 + Missense_Mutation SNP T T G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 62082482 62082482 T G SNP ICAM2 ENST00000412356 human ensembl 74_37 -1 known missense c.313 p.N105H 0.000 pfam_ICAM_N pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM2 HGNC ENSG00000108622 tier1 - - 51 0 0.00 31 13 29.55 IFT172 0 genome.wustl.edu 37 2 27668210 27668210 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 27668210 27668210 A G SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.5021 p.L1674P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 32 0 0.00 29 4 12.12 JAM3 0 genome.wustl.edu 37 11 134014718 134014718 + Silent SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 134014718 134014718 G A SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known silent c.576 p.P192 0.081 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 tier1 - - 46 0 0.00 20 11 35.48 KALRN 0 genome.wustl.edu 37 3 124174024 124174024 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 124174024 124174024 C A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.3547 p.Q1183K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 34 0 0.00 36 22 37.93 KIT 0 genome.wustl.edu 37 4 55593704 55593704 + Missense_Mutation SNP T T G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 55593704 55593704 T G SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.1770 p.S590R 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 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 KIT HGNC ENSG00000157404 tier1 - - 30 0 0.00 29 17 36.96 KLHL6 0 genome.wustl.edu 37 3 183273193 183273193 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 183273193 183273193 G T SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known missense c.249 p.F83L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 tier1 - - 24 0 0.00 21 8 27.59 KLRF2 0 genome.wustl.edu 37 12 10048387 10048387 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 10048387 10048387 C T SNP KLRF2 ENST00000535540 human ensembl 74_37 +1 known silent c.579 p.C193 0.994 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRF2 HGNC ENSG00000256797 tier1 - - 33 0 0.00 47 4 7.84 KRT2 0 genome.wustl.edu 37 12 53045389 53045389 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 53045389 53045389 C T SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.538 p.E180K 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 tier1 - - 41 0 0.00 70 16 18.60 KRT73 0 genome.wustl.edu 37 12 53009995 53009995 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 53009995 53009995 G C SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.617 p.S206W 0.041 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 tier1 - - 58 0 0.00 89 17 16.04 KRTAP2-2 0 genome.wustl.edu 37 17 39211182 39211182 + Nonsense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 39211182 39211182 C T SNP KRTAP2-2 ENST00000542910 human ensembl 74_37 -1 known nonsense c.282 p.W94* 1.000 NULL pfam_Keratin-assoc - no_errors KRTAP2-2 HGNC ENSG00000214518 tier1 rs201126380 - 33 0 0.00 16 12 42.86 LPAL2 0 genome.wustl.edu 37 6 160888611 160888611 + RNA SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 6 160888611 160888611 C G SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 27 0 0.00 49 9 15.52 LPP 0 genome.wustl.edu 37 3 188242454 188242454 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 188242454 188242454 G T SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.308 p.G103V 0.992 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 42 0 0.00 38 3 7.32 LRCH1 0 genome.wustl.edu 37 13 47243194 47243194 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 13 47243194 47243194 G T SNP LRCH1 ENST00000389798 human ensembl 74_37 +1 known missense c.482 p.C161F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 45 0 0.00 51 3 5.56 LRRK1 0 genome.wustl.edu 37 15 101597188 101597188 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 101597188 101597188 C G SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.4460 p.P1487R 0.975 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 12 0 0.00 11 5 31.25 MAF1 0 genome.wustl.edu 37 8 145160882 145160882 + Nonsense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 8 145160882 145160882 C A SNP MAF1 ENST00000322428 human ensembl 74_37 +1 known nonsense c.194 p.S65* 0.690 pfam_Maf1,pirsf_Maf1 pfam_Maf1,pirsf_Maf1 - no_errors MAF1 HGNC ENSG00000179632 tier1 - - 20 0 0.00 8 6 42.86 MAP1LC3A 0 genome.wustl.edu 37 20 33147159 33147159 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 20 33147159 33147159 C T SNP MAP1LC3A ENST00000360668 human ensembl 74_37 +1 known silent c.105 p.I35 0.870 pfam_Atg8_fam pfam_Atg8_fam,pfam_Atg12 - no_errors MAP1LC3A HGNC ENSG00000101460 tier1 - - 9 0 0.00 12 12 50.00 MAPK6 0 genome.wustl.edu 37 15 52353571 52353571 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 52353571 52353571 C T SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known missense c.941 p.P314L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 tier1 - - 50 0 0.00 25 13 34.21 MARCH10 0 genome.wustl.edu 37 17 60865859 60865859 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 60865859 60865859 G T SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known missense c.192 p.S64R 0.046 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 tier1 - - 68 0 0.00 38 15 28.30 MCC 0 genome.wustl.edu 37 5 112420928 112420928 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 5 112420928 112420928 C T SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.908 p.R303H 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 - - 50 0 0.00 62 8 11.43 MCTP2 0 genome.wustl.edu 37 15 94899379 94899379 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 94899379 94899379 G T SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.1019 p.R340L 1.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 38 0 0.00 76 4 5.00 MICALL1 0 genome.wustl.edu 37 22 38333778 38333778 + Nonsense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 22 38333778 38333778 G T SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known nonsense c.2449 p.E817* 1.000 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 tier1 - - 27 0 0.00 25 5 16.67 MIR106B 0 genome.wustl.edu 37 7 99691652 99691652 + RNA SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 99691652 99691652 C T SNP MIR106B ENST00000385301 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR106B HGNC ENSG00000208036 tier1 - - 27 0 0.00 30 18 37.50 MOB4 0 genome.wustl.edu 37 2 198400257 198400257 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 198400257 198400257 A G SNP MOB4 ENST00000323303 human ensembl 74_37 +1 known missense c.127 p.I43V 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB4 HGNC ENSG00000115540 tier1 - - 24 0 0.00 41 12 22.64 MS4A4E 0 genome.wustl.edu 37 11 59982060 59982060 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 59982060 59982060 C T SNP MS4A4E ENST00000427611 human ensembl 74_37 -1 known missense c.262 p.E88K 0.726 NULL NULL - no_errors MS4A4E HGNC ENSG00000214787 tier1 - - 28 0 0.00 20 6 23.08 MTR 0 genome.wustl.edu 37 1 236969525 236969525 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 236969525 236969525 G C SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.331 p.E111Q 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 18 0 0.00 67 8 10.67 MUC12 0 genome.wustl.edu 37 7 100638793 100638793 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 100638793 100638793 A G SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.4949 p.N1650S 0.004 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 101 0 0.00 84 53 38.69 MUM1L1 0 genome.wustl.edu 37 X 105450626 105450626 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 X 105450626 105450626 C G SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1201 p.Q401E 0.927 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 - - 24 0 0.00 25 27 51.92 NAE1 0 genome.wustl.edu 37 16 66847533 66847533 + Nonsense_Mutation SNP A A C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 66847533 66847533 A C SNP NAE1 ENST00000290810 human ensembl 74_37 -1 known nonsense c.968 p.L323* 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors NAE1 HGNC ENSG00000159593 tier1 - - 32 0 0.00 24 30 55.56 NALCN 0 genome.wustl.edu 37 13 101910850 101910850 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 13 101910850 101910850 T C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1210 p.N404D 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 29 0 0.00 24 9 27.27 NARF 0 genome.wustl.edu 37 17 80439050 80439050 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 80439050 80439050 G T SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.732 p.L244F 0.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 tier1 - - 26 0 0.00 13 31 70.45 NBEAL2 0 genome.wustl.edu 37 3 47039969 47039969 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 47039969 47039969 G T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.3135 p.M1045I 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 24 0 0.00 14 3 17.65 NEK1 0 genome.wustl.edu 37 4 170520292 170520292 + Nonsense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 170520292 170520292 G A SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known nonsense c.271 p.R91* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 tier1 - - 20 0 0.00 26 9 25.71 NFKBIZ 0 genome.wustl.edu 37 3 101575996 101575996 + Missense_Mutation SNP T T G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 101575996 101575996 T G SNP NFKBIZ ENST00000326172 human ensembl 74_37 +1 known missense c.1904 p.L635R 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 tier1 rs1043339 - 25 0 0.00 37 11 22.92 NLRP13 0 genome.wustl.edu 37 19 56416358 56416358 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 56416358 56416358 C T SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known silent c.2568 p.K856 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 tier1 - - 42 0 0.00 2 51 96.23 NLRP13 0 genome.wustl.edu 37 19 56424072 56424072 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 56424072 56424072 G T SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.1111 p.L371I 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 tier1 - - 38 0 0.00 35 16 31.37 NOTCH2NL 0 genome.wustl.edu 37 1 145290819 145290819 + RNA SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 145290819 145290819 G A SNP NOTCH2NL ENST00000479995 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NOTCH2NL HGNC ENSG00000213240 tier1 rs4659318 - 8 0 0.00 23 7 23.33 NPAT 0 genome.wustl.edu 37 11 108031840 108031840 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 108031840 108031840 C G SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.3973 p.E1325Q 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 - - 47 0 0.00 24 17 41.46 NRDE2 0 genome.wustl.edu 37 14 90770449 90770449 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 14 90770449 90770449 T C SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.835 p.T279A 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 tier1 - - 50 0 0.00 29 16 35.56 NRXN1 0 genome.wustl.edu 37 2 50573871 50573871 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 50573871 50573871 T C SNP NRXN1 ENST00000342183 human ensembl 74_37 -1 known missense c.217 p.I73V 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 9 0 0.00 16 5 23.81 NRXN2 0 genome.wustl.edu 37 11 64428408 64428408 + Nonsense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 64428408 64428408 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known nonsense c.2002 p.R668* 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 - - 14 0 0.00 13 6 31.58 OPTN 0 genome.wustl.edu 37 10 13151284 13151284 + Silent SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 13151284 13151284 G A SNP OPTN ENST00000263036 human ensembl 74_37 +1 known silent c.162 p.L54 0.977 pfam_NEMO_N pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 12 0 0.00 18 4 18.18 OR13C5 0 genome.wustl.edu 37 9 107361179 107361182 + Frame_Shift_Del DEL GTTA GTTA - TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 GTTA GTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 107361179 107361182 GTTA 0 DEL OR13C5 ENST00000374779 human ensembl 74_37 -1 known frame_shift_del c.516_513 p.N171fs 0.000:0.000:0.000:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 62 0 0.00 91 8 8.08 OR1L6 0 genome.wustl.edu 37 9 125512324 125512324 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 125512324 125512324 C A SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known missense c.306 p.N102K 0.949 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 tier1 - - 62 0 0.00 26 45 63.38 OR2M7 0 genome.wustl.edu 37 1 248487170 248487171 + Frame_Shift_Ins INS - - G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 248487170 248487171 - G INS OR2M7 ENST00000317965 human ensembl 74_37 -1 known frame_shift_ins c.701_700 p.R234fs 0.001:0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 tier1 85 0 0.00 153 48 23.88 OR2M7 0 genome.wustl.edu 37 1 248487173 248487174 + Frame_Shift_Del DEL CC CC - TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 248487173 248487174 CC - DEL OR2M7 ENST00000317965 human ensembl 74_37 -1 known frame_shift_del c.698_697 p.G233fs 0.335:0.354 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 tier1 88 0 0.00 163 48 22.75 OR2T3 0 genome.wustl.edu 37 1 248637291 248637291 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 248637291 248637291 G A SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.640 p.A214T 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T3 HGNC ENSG00000196539 23 0 0.00 58 8 12.12 OR4C16 0 genome.wustl.edu 37 11 55339985 55339985 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 55339985 55339985 C T SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known silent c.382 p.L128 0.839 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 52 0 0.00 19 39 67.24 OR9G1 0 genome.wustl.edu 37 11 56468326 56468326 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 56468326 56468326 T C SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known missense c.463 p.S155P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 tier1 - - 114 0 0.00 91 17 15.74 PARPBP 0 genome.wustl.edu 37 12 102558360 102558360 + Nonsense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 102558360 102558360 C T SNP PARPBP ENST00000358383 human ensembl 74_37 +1 known nonsense c.640 p.R214* 0.998 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors PARPBP HGNC ENSG00000185480 tier1 - - 35 0 0.00 27 12 30.77 PCBP3 0 genome.wustl.edu 37 21 47316257 47316257 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 21 47316257 47316257 G A SNP PCBP3 ENST00000400314 human ensembl 74_37 +1 known missense c.146 p.R49H 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 tier1 - - 61 0 0.00 55 59 51.75 PCDH10 0 genome.wustl.edu 37 4 134073552 134073552 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 134073552 134073552 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2257 p.A753T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 28 0 0.00 25 11 30.56 PCDHA10 0 genome.wustl.edu 37 5 140237801 140237801 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 5 140237801 140237801 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.2168 p.A723V 0.305 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 57 0 0.00 20 20 50.00 PEAK1 0 genome.wustl.edu 37 15 77471471 77471471 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 77471471 77471471 C T SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.2798 p.R933H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 28 0 0.00 36 2 5.26 PHIP 0 genome.wustl.edu 37 6 79655198 79655198 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 6 79655198 79655198 C T SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.4647 p.V1549 0.998 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 tier1 - - 42 0 0.00 35 11 23.91 PI4KA 0 genome.wustl.edu 37 22 21064264 21064264 + Silent SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 22 21064264 21064264 G C SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.6105 p.V2035 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 48 0 0.00 35 15 30.00 PIGK 0 genome.wustl.edu 37 1 77620211 77620211 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 77620211 77620211 G T SNP PIGK ENST00000370812 human ensembl 74_37 -1 known missense c.909 p.F303L 1.000 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC ENSG00000142892 tier1 - - 49 0 0.00 62 18 22.50 POU2F1 0 genome.wustl.edu 37 1 167343527 167343527 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 167343527 167343527 C T SNP POU2F1 ENST00000367866 human ensembl 74_37 +1 known silent c.585 p.I195 0.879 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 tier1 - - 32 0 0.00 68 10 12.82 PPP1R26 0 genome.wustl.edu 37 9 138377490 138377490 + Silent SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 138377490 138377490 G A SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.1134 p.Q378 1.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 - - 61 0 0.00 38 17 30.91 PPP4R1L 0 genome.wustl.edu 37 20 56814841 56814841 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 20 56814841 56814841 G C SNP PPP4R1L ENST00000497138 human ensembl 74_37 -1 known missense c.373 p.Q125E 1.000 NULL superfamily_ARM-type_fold - no_errors PPP4R1L HGNC ENSG00000124224 tier1 - - 30 0 0.00 17 6 26.09 PPP4R4 0 genome.wustl.edu 37 14 94712823 94712823 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 14 94712823 94712823 G C SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known missense c.1558 p.D520H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 tier1 - - 36 0 0.00 33 21 38.89 PRKCB 0 genome.wustl.edu 37 16 24105592 24105592 + Missense_Mutation SNP A A T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 24105592 24105592 A T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.795 p.E265D 0.999 superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 39 0 0.00 44 27 37.50 PRKG2 0 genome.wustl.edu 37 4 82027067 82027067 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 82027067 82027067 G T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.1963 p.Q655K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 tier1 - - 38 0 0.00 25 11 30.56 PROM1 0 genome.wustl.edu 37 4 16010698 16010698 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 16010698 16010698 T C SNP PROM1 ENST00000447510 human ensembl 74_37 -1 known missense c.1175 p.D392G 0.000 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 tier1 - - 30 0 0.00 22 15 40.54 PRRC2B 0 genome.wustl.edu 37 9 134346214 134346214 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 134346214 134346214 C T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.1951 p.P651S 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 20 0 0.00 13 4 23.53 PRTN3 0 genome.wustl.edu 37 19 846216 846216 + Frame_Shift_Del DEL C C - TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 846216 846216 C - DEL PRTN3 ENST00000234347 human ensembl 74_37 +1 known frame_shift_del c.439 p.H148fs 0.001 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRTN3 HGNC ENSG00000196415 tier1 25 0 0.00 25 13 34.21 PSAP 0 genome.wustl.edu 37 10 73587809 73587809 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 10 73587809 73587809 C G SNP PSAP ENST00000394934 human ensembl 74_37 -1 known missense c.682 p.E228Q 1.000 pirsf_Saposin_chordata,pfam_SapB_1,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 tier1 - - 38 0 0.00 43 11 20.37 PSMD8 0 genome.wustl.edu 37 19 38865577 38865577 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 38865577 38865577 C G SNP PSMD8 ENST00000215071 human ensembl 74_37 +1 known missense c.336 p.C112W 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors PSMD8 HGNC ENSG00000099341 tier1 - - 33 0 0.00 83 14 14.43 PYGM 0 genome.wustl.edu 37 11 64519395 64519395 + Splice_Site DEL C C - TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 64519395 64519395 C 0 DEL PYGM ENST00000164139 human ensembl 74_37 -1 known splice_site_del c.1768+1 e14+1 1.000 - - - no_errors PYGM HGNC ENSG00000068976 119 0 0.00 88 8 8.33 R3HDM2 0 genome.wustl.edu 37 12 57704142 57704142 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 57704142 57704142 C T SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known missense c.70 p.E24K 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 tier1 - - 58 0 0.00 62 19 23.46 RAB3GAP2 0 genome.wustl.edu 37 1 220387305 220387305 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 220387305 220387305 G C SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.197 p.T66S 0.005 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 tier1 - - 86 0 0.00 61 74 54.81 RABGGTB 0 genome.wustl.edu 37 1 76255288 76255288 + RNA SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 76255288 76255288 G T SNP RABGGTB ENST00000461653 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 - - 37 0 0.00 35 10 22.22 RASGRP4 0 genome.wustl.edu 37 19 38904097 38904097 + Silent SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 38904097 38904097 G A SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known silent c.1248 p.F416 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 tier1 - - 26 0 0.00 55 10 15.38 RBM19 0 genome.wustl.edu 37 12 114356247 114356247 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 114356247 114356247 G T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.2391 p.H797Q 0.189 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 19 0 0.00 19 3 13.64 RBMY2FP 0 genome.wustl.edu 37 Y 24460678 24460678 + RNA SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 Y 24460678 24460678 G T SNP RBMY2FP ENST00000303922 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RBMY2FP HGNC ENSG00000243040 tier1 - - 102 0 0.00 67 54 44.63 RFTN1 0 genome.wustl.edu 37 3 16368365 16368365 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 16368365 16368365 C A SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known missense c.1165 p.D389Y 1.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 tier1 - - 45 0 0.00 39 14 26.42 ROBO3 0 genome.wustl.edu 37 11 124743663 124743663 + Silent SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 124743663 124743663 G C SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known silent c.1689 p.V563 0.829 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 ROBO3 HGNC ENSG00000154134 tier1 - - 20 0 0.00 13 8 38.10 RRP7B 0 genome.wustl.edu 37 22 42970659 42970659 + RNA SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 22 42970659 42970659 C A SNP RRP7B ENST00000458605 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRP7B HGNC ENSG00000182841 tier1 - - 19 0 0.00 10 13 56.52 RTL1 0 genome.wustl.edu 37 14 101347804 101347804 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 14 101347804 101347804 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.3322 p.R1108W 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 34 0 0.00 16 7 30.43 RTN1 0 genome.wustl.edu 37 14 60194345 60194345 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 14 60194345 60194345 C T SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.1057 p.E353K 0.998 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 13 0 0.00 8 6 42.86 RYR2 0 genome.wustl.edu 37 1 237753263 237753263 + Nonsense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 237753263 237753263 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known nonsense c.3763 p.Q1255* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 39 0 0.00 82 10 10.87 SAG 0 genome.wustl.edu 37 2 234224723 234224723 + Silent SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 234224723 234224723 G T SNP SAG ENST00000409110 human ensembl 74_37 +1 known silent c.78 p.V26 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 40 0 0.00 46 3 6.12 SCCPDH 0 genome.wustl.edu 37 1 246887741 246887741 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 246887741 246887741 G A SNP SCCPDH ENST00000366510 human ensembl 74_37 +1 known missense c.17 p.R6K 0.996 NULL pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 16 0 0.00 32 5 13.51 SCYL2 0 genome.wustl.edu 37 12 100676832 100676832 + Silent SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 100676832 100676832 C A SNP SCYL2 ENST00000360820 human ensembl 74_37 +1 known silent c.84 p.V28 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SCYL2 HGNC ENSG00000136021 tier1 - - 34 0 0.00 45 17 27.42 SDC2 0 genome.wustl.edu 37 8 97620584 97620584 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 8 97620584 97620584 G C SNP SDC2 ENST00000302190 human ensembl 74_37 +1 known missense c.328 p.E110Q 0.996 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC2 HGNC ENSG00000169439 37 0 0.00 42 3 6.67 SEC14L2 0 genome.wustl.edu 37 22 30812056 30812056 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 22 30812056 30812056 C T SNP SEC14L2 ENST00000312932 human ensembl 74_37 +1 known silent c.891 p.L297 1.000 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 tier1 - - 34 0 0.00 12 32 72.73 SEPT1 0 genome.wustl.edu 37 16 30393911 30393911 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 30393911 30393911 T C SNP SEPT1 ENST00000321367 human ensembl 74_37 -1 known missense c.79 p.S27G 0.803 NULL pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 tier1 - - 28 0 0.00 42 8 16.00 SGOL1 0 genome.wustl.edu 37 3 20216539 20216539 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 20216539 20216539 G C SNP SGOL1 ENST00000263753 human ensembl 74_37 -1 known missense c.484 p.P162A 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 25 0 0.00 20 11 35.48 SI 0 genome.wustl.edu 37 3 164783167 164783167 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 164783167 164783167 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.689 p.S230L 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 27 0 0.00 68 14 17.07 SLC6A5 0 genome.wustl.edu 37 11 20623033 20623033 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 20623033 20623033 A G SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.362 p.K121R 0.986 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 tier1 - - 27 0 0.00 20 9 31.03 SLFN12L 0 genome.wustl.edu 37 17 33805180 33805180 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 33805180 33805180 G C SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known missense c.1211 p.A404G 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 49 0 0.00 47 3 6.00 SMEK1 0 genome.wustl.edu 37 14 91931710 91931710 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 14 91931710 91931710 G T SNP SMEK1 ENST00000554943 human ensembl 74_37 -1 known missense c.1714 p.R572S 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 19 0 0.00 33 2 5.71 SNAPC4 0 genome.wustl.edu 37 9 139286514 139286514 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 139286514 139286514 C A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.855 p.Q285H 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 tier1 - - 36 0 0.00 5 17 77.27 SPATA31D1 0 genome.wustl.edu 37 9 84608402 84608402 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 84608402 84608402 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.3017 p.S1006Y 0.054 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 64 0 0.00 54 18 25.00 SPATC1L 0 genome.wustl.edu 37 21 47588410 47588410 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 21 47588410 47588410 C G SNP SPATC1L ENST00000291672 human ensembl 74_37 -1 known missense c.356 p.S119T 0.066 NULL NULL - no_errors SPATC1L HGNC ENSG00000160284 tier1 - - 32 0 0.00 36 6 14.29 SPEF2 0 genome.wustl.edu 37 5 35618123 35618123 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 5 35618123 35618123 G T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.24 p.W8C 1.000 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 31 0 0.00 56 4 6.67 SPIN1 0 genome.wustl.edu 37 9 91041391 91041391 + RNA SNP A A T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 91041391 91041391 A T SNP SPIN1 ENST00000462844 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors SPIN1 HGNC ENSG00000106723 tier1 - - 13 0 0.00 5 18 78.26 SRCIN1 0 genome.wustl.edu 37 17 36708054 36708054 + RNA SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 36708054 36708054 A G SNP SRCIN1 ENST00000578160 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SRCIN1 HGNC ENSG00000017373 tier1 - - 25 0 0.00 20 6 23.08 SRP68 0 genome.wustl.edu 37 17 74035188 74035188 + RNA SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 74035188 74035188 C T SNP SRP68 ENST00000542536 human ensembl 74_37 -1 known rna NULL NULL 0.872 - - - no_errors SRP68 HGNC ENSG00000167881 tier1 - - 45 0 0.00 28 12 30.00 STAU2-AS1 0 genome.wustl.edu 37 8 74332366 74332366 + RNA SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 8 74332366 74332366 C T SNP STAU2-AS1 ENST00000517604 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors STAU2-AS1 HGNC ENSG00000253302 tier1 - - 29 0 0.00 15 7 31.82 STT3B 0 genome.wustl.edu 37 3 31677578 31677578 + RNA SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 31677578 31677578 C T SNP STT3B ENST00000463044 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors STT3B HGNC ENSG00000163527 tier1 - - 56 0 0.00 16 4 20.00 STT3B 0 genome.wustl.edu 37 3 31677579 31677579 + RNA SNP T T G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 31677579 31677579 T G SNP STT3B ENST00000463044 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors STT3B HGNC ENSG00000163527 tier1 - - 56 0 0.00 16 4 20.00 SUGP2 0 genome.wustl.edu 37 19 19120975 19120975 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 19120975 19120975 G A SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2027 p.P676L 0.286 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 20 0 0.00 42 6 12.50 SUSD1 0 genome.wustl.edu 37 9 114820919 114820919 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 9 114820919 114820919 G C SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.1898 p.S633C 0.995 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 tier1 - - 40 0 0.00 58 8 12.12 SV2B 0 genome.wustl.edu 37 15 91832773 91832773 + Silent SNP A A C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 91832773 91832773 A C SNP SV2B ENST00000330276 human ensembl 74_37 +1 known silent c.1731 p.A577 0.028 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 tier1 - - 46 0 0.00 59 17 22.37 SYNRG 0 genome.wustl.edu 37 17 35930849 35930849 + Missense_Mutation SNP A A T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 35930849 35930849 A T SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.1234 p.S412T 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 22 0 0.00 13 29 69.05 TANGO6 0 genome.wustl.edu 37 16 69008066 69008066 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 69008066 69008066 C A SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.2837 p.A946E 0.016 superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 tier1 - - 55 0 0.00 29 15 33.33 TAS1R3 0 genome.wustl.edu 37 1 1268382 1268382 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 1268382 1268382 G C SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.1357 p.E453Q 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 tier1 - - 45 0 0.00 31 10 24.39 TCAM1P 0 genome.wustl.edu 37 17 61939715 61939715 + RNA SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 61939715 61939715 C A SNP TCAM1P ENST00000478379 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors TCAM1P HGNC ENSG00000240280 35 0 0.00 35 4 10.26 TMEM129 0 genome.wustl.edu 37 4 1720170 1720171 + Frame_Shift_Ins INS - - G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 1720170 1720171 - G INS TMEM129 ENST00000382936 human ensembl 74_37 -1 known frame_shift_ins c.389_388 p.L130fs 0.009:0.016 pfam_Tmpp129 pfam_Tmpp129 - no_errors TMEM129 HGNC ENSG00000168936 tier1 24 0 0.00 19 7 26.92 TMEM155 0 genome.wustl.edu 37 4 122681585 122681585 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 122681585 122681585 C A SNP TMEM155 ENST00000337677 human ensembl 74_37 -1 known missense c.257 p.S86I 0.002 NULL NULL - no_errors TMEM155 HGNC ENSG00000164112 tier1 - - 29 0 0.00 35 13 27.08 TMEM45A 0 genome.wustl.edu 37 3 100295770 100295770 + Missense_Mutation SNP T T G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 100295770 100295770 T G SNP TMEM45A ENST00000323523 human ensembl 74_37 +1 known missense c.736 p.L246V 1.000 NULL pfam_DUF716_TMEM45 - no_errors TMEM45A HGNC ENSG00000181458 tier1 - - 26 0 0.00 32 14 30.43 TMTC1 0 genome.wustl.edu 37 12 29936515 29936515 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 29936515 29936515 A G SNP TMTC1 ENST00000539277 human ensembl 74_37 -1 putative missense c.170 p.I57T 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 tier1 - - 39 0 0.00 38 10 20.83 TMTC1 0 genome.wustl.edu 37 12 29936562 29936562 + Nonsense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 29936562 29936562 G T SNP TMTC1 ENST00000539277 human ensembl 74_37 -1 putative nonsense c.123 p.Y41* 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 tier1 - - 17 0 0.00 17 5 21.74 TNFAIP6 0 genome.wustl.edu 37 2 152226759 152226759 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 152226759 152226759 G T SNP TNFAIP6 ENST00000243347 human ensembl 74_37 +1 known missense c.620 p.G207V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 tier1 - - 31 0 0.00 28 9 24.32 TP53 0 genome.wustl.edu 37 17 7578547 7578547 + Frame_Shift_Del DEL G G - TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 7578547 7578547 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.383 p.P128fs 0.106 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 33 0 0.00 10 7 41.18 TRAK1 0 genome.wustl.edu 37 3 42251577 42251578 + In_Frame_Ins INS - - GGA TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 42251577 42251578 - GGA INS TRAK1 ENST00000341421 human ensembl 74_37 +1 known in_frame_ins c.1889_1890 p.634in_frame_insE 0.010:0.044 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 15 0 0.00 10 5 33.33 TRPM7 0 genome.wustl.edu 37 15 50903479 50903479 + Silent SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 15 50903479 50903479 G A SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known silent c.2091 p.S697 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 tier1 - - 41 0 0.00 24 15 38.46 TTC28 0 genome.wustl.edu 37 22 28503690 28503690 + Nonsense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 22 28503690 28503690 G A SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel nonsense c.2143 p.R715* 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 51 0 0.00 19 11 36.67 TUBA3D 0 genome.wustl.edu 37 2 132237994 132237994 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 132237994 132237994 G T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.728 p.R243L 0.953 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_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 tier1 - - 52 0 0.00 35 7 16.67 TUBA3E 0 genome.wustl.edu 37 2 130951687 130951687 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 130951687 130951687 C A SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known missense c.728 p.R243L 0.996 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_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 147 0 0.00 124 9 6.72 UBE2N 0 genome.wustl.edu 37 12 93804730 93804730 + Nonsense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 93804730 93804730 C A SNP UBE2N ENST00000550657 human ensembl 74_37 -1 novel nonsense c.376 p.E126* 0.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2N HGNC ENSG00000177889 tier1 - - 19 0 0.00 18 9 33.33 UBE3C 0 genome.wustl.edu 37 7 157000528 157000528 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 157000528 157000528 G C SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.1708 p.E570Q 0.999 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 tier1 - - 32 0 0.00 15 14 48.28 USP34 0 genome.wustl.edu 37 2 61468742 61468742 + Nonsense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 2 61468742 61468742 C A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known nonsense c.6730 p.E2244* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 - - 34 0 0.00 52 8 13.33 USP47 0 genome.wustl.edu 37 11 11958055 11958055 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 11 11958055 11958055 G A SNP USP47 ENST00000399455 human ensembl 74_37 +1 known missense c.2135 p.G712E 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 15 0 0.00 28 5 15.15 VDR 0 genome.wustl.edu 37 12 48238609 48238609 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 48238609 48238609 G C SNP VDR ENST00000229022 human ensembl 74_37 -1 known missense c.1204 p.R402G 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd 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_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 tier1 - - 74 0 0.00 78 16 17.02 VKORC1 0 genome.wustl.edu 37 16 31106745 31106745 + Missense_Mutation SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 31106745 31106745 C T SNP VKORC1 ENST00000498155 human ensembl 74_37 -1 putative missense c.235 p.G79R 0.009 NULL NULL - no_errors VKORC1 HGNC ENSG00000167397 tier1 - - 38 0 0.00 22 11 33.33 VPS9D1-AS1 0 genome.wustl.edu 37 16 89784476 89784476 + RNA SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 89784476 89784476 C T SNP VPS9D1-AS1 ENST00000562298 human ensembl 74_37 +1 known rna NULL NULL 0.418 - - - no_errors VPS9D1-AS1 HGNC ENSG00000261373 tier1 - - 112 0 0.00 127 31 19.62 WDFY3 0 genome.wustl.edu 37 4 85711028 85711028 + Nonsense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 4 85711028 85711028 C A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known nonsense c.3520 p.E1174* 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 22 0 0.00 16 4 20.00 WDR13 0 genome.wustl.edu 37 X 48458003 48458003 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 X 48458003 48458003 G T SNP WDR13 ENST00000218056 human ensembl 74_37 +1 known missense c.421 p.A141S 0.892 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 16 0 0.00 73 4 5.19 WDR87 0 genome.wustl.edu 37 19 38386867 38386867 + Nonsense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 38386867 38386867 G A SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known nonsense c.157 p.Q53* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 48 0 0.00 54 79 59.40 WRN 0 genome.wustl.edu 37 8 31012243 31012243 + Missense_Mutation SNP C C G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 8 31012243 31012243 C G SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.3791 p.S1264C 0.981 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 63 0 0.00 36 23 38.98 WSCD1 0 genome.wustl.edu 37 17 6021393 6021393 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 17 6021393 6021393 G A SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known missense c.1260 p.M420I 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 tier1 - - 22 0 0.00 12 13 52.00 XRN1 0 genome.wustl.edu 37 3 142131431 142131431 + Missense_Mutation SNP T T A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 142131431 142131431 T A SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.1668 p.K556N 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 tier1 - - 59 0 0.00 127 23 15.33 ZFC3H1 0 genome.wustl.edu 37 12 72028607 72028608 + Splice_Site INS - - A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 72028607 72028608 - A INS ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known splice_site_ins c.2239-3_2239-2 e11-2 0.902:0.745 - - - no_errors ZFC3H1 HGNC ENSG00000133858 tier1 18 0 0.00 30 3 9.09 ZKSCAN3 0 genome.wustl.edu 37 6 28327648 28327648 + Silent SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 6 28327648 28327648 G T SNP ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known silent c.285 p.L95 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 tier1 - - 31 0 0.00 34 26 43.33 ZMYM1 0 genome.wustl.edu 37 1 35580160 35580160 + Missense_Mutation SNP A A C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 35580160 35580160 A C SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.2729 p.K910T 0.573 superfamily_RNaseH-like_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 tier1 - - 28 0 0.00 41 11 21.15 ZNF268 0 genome.wustl.edu 37 12 133778860 133778860 + Missense_Mutation SNP A A T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 12 133778860 133778860 A T SNP ZNF268 ENST00000541211 human ensembl 74_37 +1 known missense c.461 p.Q154L 0.002 NULL NULL - no_errors ZNF268 HGNC ENSG00000090612 tier1 - - 38 0 0.00 17 8 32.00 ZNF385D 0 genome.wustl.edu 37 3 22210428 22210428 + RNA SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 3 22210428 22210428 A G SNP ZNF385D ENST00000466511 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 67 0 0.00 55 18 24.66 ZNF469 0 genome.wustl.edu 37 16 88499969 88499969 + Missense_Mutation SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 88499969 88499969 G A SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.6007 p.E2003K 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 35 0 0.00 25 13 34.21 ZNF570 0 genome.wustl.edu 37 19 37960340 37960340 + RNA SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 37960340 37960340 G T SNP ZNF570 ENST00000591380 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF570 HGNC ENSG00000171827 tier1 - - 29 0 0.00 32 4 11.11 ZNF570 0 genome.wustl.edu 37 19 37975938 37975938 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 37975938 37975938 T C SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.1414 p.C472R 0.998 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 ZNF570 HGNC ENSG00000171827 tier1 - - 45 0 0.00 76 13 14.61 ZNF653 0 genome.wustl.edu 37 19 11598149 11598149 + Missense_Mutation SNP T T C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 11598149 11598149 T C SNP ZNF653 ENST00000293771 human ensembl 74_37 -1 known missense c.1129 p.T377A 0.410 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 tier1 - - 43 0 0.00 90 10 10.00 ZNF720 0 genome.wustl.edu 37 16 31724640 31724640 + RNA SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 16 31724640 31724640 G A SNP ZNF720 ENST00000531864 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF720 HGNC ENSG00000197302 tier1 - - 20 0 0.00 23 8 25.81 ZNF727 0 genome.wustl.edu 37 7 63537932 63537932 + Silent SNP A A C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 63537932 63537932 A C SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known silent c.505 p.R169 0.019 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 ZNF727 HGNC ENSG00000257482 tier1 - - 21 0 0.00 37 9 19.57 ZNF736 0 genome.wustl.edu 37 7 63797361 63797361 + Splice_Site SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 7 63797361 63797361 G T SNP ZNF736 ENST00000355095 human ensembl 74_37 +1 known splice_site c.226+1 e3+1 0.045 - - - no_errors ZNF736 HGNC ENSG00000234444 tier1 - - 29 0 0.00 62 8 11.27 ZNF749 0 genome.wustl.edu 37 19 57955810 57955810 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 57955810 57955810 C A SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known missense c.1294 p.H432N 0.995 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 ZNF749 HGNC ENSG00000186230 tier1 - - 40 0 0.00 17 30 63.83 ZNF880 0 genome.wustl.edu 37 19 52887707 52887707 + Nonsense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 19 52887707 52887707 G T SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known nonsense c.874 p.G292* 0.998 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 ZNF880 HGNC ENSG00000221923 tier1 - - 45 0 0.00 29 17 36.96 ZNRD1-AS1 0 genome.wustl.edu 37 6 29976907 29976907 + RNA SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 6 29976907 29976907 G A SNP ZNRD1-AS1 ENST00000376797 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors ZNRD1-AS1 HGNC ENSG00000204623 tier1 - - 68 0 0.00 48 44 47.83 ZSWIM1 0 genome.wustl.edu 37 20 44511684 44511684 + Missense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 20 44511684 44511684 C A SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known missense c.453 p.F151L 0.229 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 tier1 - - 29 0 0.00 29 12 29.27 ZZZ3 0 genome.wustl.edu 37 1 78030640 78030640 + RNA SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c1f9eac-d7fb-4794-86f4-1d9c383868b2 eff182c7-0675-4fad-85ef-f59a124a8880 1 78030640 78030640 C A SNP ZZZ3 ENST00000476275 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 31 0 0.00 26 9 25.71