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 ACVRL1 0 genome.wustl.edu 37 12 52307360 52307360 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 52307360 52307360 G A SNP ACVRL1 ENST00000550683 human ensembl 74_37 +1 known missense c.373 p.E125K 0.738 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVRL1 HGNC ENSG00000139567 16 0 0.00 21 4 16.00 ADAM12 0 genome.wustl.edu 37 10 127782586 127782586 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 127782586 127782586 C A SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.1122 p.E374D 0.722 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 tier1 - - 81 0 0.00 80 13 13.98 ADAM28 0 genome.wustl.edu 37 8 24181395 24181395 + Missense_Mutation SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 8 24181395 24181395 T C SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.769 p.W257R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 - - 34 0 0.00 50 11 18.03 ADAMTS10 0 genome.wustl.edu 37 19 8651466 8651466 + Silent SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 8651466 8651466 C A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known silent c.2379 p.P793 0.429 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 tier1 - - 46 0 0.00 46 14 23.33 ADAMTS16 0 genome.wustl.edu 37 5 5318251 5318251 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 5318251 5318251 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.3416 p.T1139M 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 20 0 0.00 28 5 15.15 ADCY1 0 genome.wustl.edu 37 7 45753493 45753493 + Frame_Shift_Del DEL C C - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 45753493 45753493 C - DEL ADCY1 ENST00000297323 human ensembl 74_37 +1 known frame_shift_del c.3259 p.V1089fs 0.993 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 58 0 0.00 60 11 15.49 ADCY10 0 genome.wustl.edu 37 1 167844397 167844397 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 167844397 167844397 G A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known silent c.1434 p.C478 0.850 superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 37 0 0.00 35 7 16.28 ADRA2A 0 genome.wustl.edu 37 10 112838931 112838931 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 112838931 112838931 G T SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.1177 p.V393L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 33 0 0.00 27 2 6.90 AFF1 0 genome.wustl.edu 37 4 88035615 88035615 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 4 88035615 88035615 C T SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.1630 p.P544S 0.099 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 tier1 - - 15 0 0.00 11 7 38.89 AGAP11 0 genome.wustl.edu 37 10 88760457 88760457 + RNA DEL T T - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 88760457 88760457 T - DEL AGAP11 ENST00000444431 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AGAP11 HGNC ENSG00000151303 tier1 27 0 0.00 20 4 16.67 ALDH3A2 0 genome.wustl.edu 37 17 19568349 19568349 + Missense_Mutation SNP T T A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 19568349 19568349 T A SNP ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known missense c.1196 p.F399Y 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 tier1 - - 58 0 0.00 81 10 10.99 ANGPT4 0 genome.wustl.edu 37 20 865893 865893 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 20 865893 865893 C T SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known silent c.663 p.A221 0.770 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT4 HGNC ENSG00000101280 tier1 - - 20 0 0.00 24 6 20.00 ANKRD30B 0 genome.wustl.edu 37 18 14808688 14808688 + RNA SNP A A C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 18 14808688 14808688 A C SNP ANKRD30B ENST00000579292 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 75 0 0.00 64 11 14.67 ANKRD36 0 genome.wustl.edu 37 2 97847489 97847489 + Missense_Mutation SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 97847489 97847489 A G SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.1796 p.N599S 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 93 0 0.00 128 15 10.49 ANP32B 0 genome.wustl.edu 37 9 100745866 100745866 + Missense_Mutation SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 100745866 100745866 A G SNP ANP32B ENST00000339399 human ensembl 74_37 +1 known missense c.29 p.E10G 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors ANP32B HGNC ENSG00000136938 43 0 0.00 70 4 5.41 ANP32BP1 0 genome.wustl.edu 37 15 75614576 75614576 + RNA SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 75614576 75614576 C T SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 56 0 0.00 88 24 21.43 ANP32BP1 0 genome.wustl.edu 37 15 75614593 75614593 + RNA SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 75614593 75614593 C T SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 60 0 0.00 99 26 20.80 ANP32BP1 0 genome.wustl.edu 37 15 75614671 75614671 + RNA SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 75614671 75614671 A G SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 0.964 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 45 0 0.00 107 25 18.94 ANP32BP1 0 genome.wustl.edu 37 15 75614710 75614710 + RNA SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 75614710 75614710 A G SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 50 0 0.00 101 17 14.41 ATP11C 0 genome.wustl.edu 37 X 138856967 138856967 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e X 138856967 138856967 G A SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known silent c.2107 p.L703 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 tier1 - - 49 0 0.00 30 15 33.33 ATP8A1 0 genome.wustl.edu 37 4 42445670 42445670 + Nonsense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 4 42445670 42445670 C T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known nonsense c.3035 p.W1012* 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8A1 HGNC ENSG00000124406 tier1 - - 36 0 0.00 45 10 18.18 BBS1 0 genome.wustl.edu 37 11 66283014 66283014 + Nonsense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 66283014 66283014 C T SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known nonsense c.547 p.R183* 0.993 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 tier1 - - 16 0 0.00 33 8 19.51 BBS4 0 genome.wustl.edu 37 15 72978628 72978628 + Silent SNP A A T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 72978628 72978628 A T SNP BBS4 ENST00000562084 human ensembl 74_37 +1 known silent c.60 p.A20 0.000 NULL NULL - no_errors BBS4 HGNC ENSG00000140463 tier1 - - 80 0 0.00 98 19 16.24 BEND7 0 genome.wustl.edu 37 10 13542011 13542011 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 13542011 13542011 C T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known missense c.215 p.R72Q 1.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 tier1 - - 47 0 0.00 80 14 14.89 BRD4 0 genome.wustl.edu 37 19 15350513 15350513 + Frame_Shift_Del DEL G G - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 15350513 15350513 G - DEL BRD4 ENST00000263377 human ensembl 74_37 -1 known frame_shift_del c.3402 p.K1135fs 0.995 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 tier1 31 0 0.00 29 2 6.45 BRINP3 0 genome.wustl.edu 37 1 190423854 190423854 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 190423854 190423854 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.167 p.R56H 1.000 pfam_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 24 0 0.00 37 3 7.50 BTBD18 0 genome.wustl.edu 37 11 57511628 57511628 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 57511628 57511628 G T SNP BTBD18 ENST00000422652 human ensembl 74_37 -1 known missense c.2117 p.T706K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC ENSG00000233436 tier1 - - 39 0 0.00 46 4 8.00 C12orf55 0 genome.wustl.edu 37 12 97038038 97038038 + Missense_Mutation SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 97038038 97038038 A G SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4399 p.R1467G 0.194 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 32 0 0.00 39 9 18.75 C16orf74 0 genome.wustl.edu 37 16 85743840 85743840 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 85743840 85743840 G A SNP C16orf74 ENST00000284245 human ensembl 74_37 -1 known silent c.102 p.D34 0.976 NULL NULL - no_errors C16orf74 HGNC ENSG00000154102 tier1 - - 21 0 0.00 18 8 30.77 C1orf140 0 genome.wustl.edu 37 1 221507307 221507307 + RNA SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 221507307 221507307 G A SNP C1orf140 ENST00000434398 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-421L10.1 Clone_based_vega_gene ENSG00000234754 tier1 - - 65 0 0.00 69 27 28.12 CACNA1B 0 genome.wustl.edu 37 9 141000233 141000233 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 141000233 141000233 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.5405 p.T1802M 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 tier1 - - 30 0 0.00 46 9 16.36 CACNA1S 0 genome.wustl.edu 37 1 201021764 201021764 + Missense_Mutation SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 201021764 201021764 T C SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.3874 p.I1292V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 - - 47 0 0.00 69 6 8.00 CARTPT 0 genome.wustl.edu 37 5 71015223 71015223 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 71015223 71015223 C T SNP CARTPT ENST00000296777 human ensembl 74_37 +1 known missense c.103 p.P35S 1.000 pfam_CART pfam_CART,superfamily_CART - no_errors CARTPT HGNC ENSG00000164326 tier1 - - 54 0 0.00 52 5 8.77 CBLN1 0 genome.wustl.edu 37 16 49315306 49315306 + Missense_Mutation SNP T T G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 49315306 49315306 T G SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known missense c.71 p.E24A 1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 40 0 0.00 23 3 11.11 CCDC102B 0 genome.wustl.edu 37 18 66564837 66564837 + RNA SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 18 66564837 66564837 T C SNP CCDC102B ENST00000577772 human ensembl 74_37 +1 known rna NULL NULL 0.090 - - - no_errors CCDC102B HGNC ENSG00000150636 tier1 - - 36 0 0.00 30 10 25.00 CCDC85A 0 genome.wustl.edu 37 2 56420101 56420101 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 56420101 56420101 C T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.766 p.P256S 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 45 0 0.00 45 12 21.05 CDH5 0 genome.wustl.edu 37 16 66426223 66426225 + In_Frame_Del DEL AGA AGA - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 66426223 66426225 AGA - DEL CDH5 ENST00000341529 human ensembl 74_37 +1 known in_frame_del c.1154_1156 p.K387in_frame_del 0.004:0.089:0.738 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 tier1 21 0 0.00 12 5 29.41 CDK11B 0 genome.wustl.edu 37 1 1575747 1575747 + Missense_Mutation SNP C C G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 1575747 1575747 C G SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1151 p.G384A 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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 88 0 0.00 85 9 9.57 CENPL 0 genome.wustl.edu 37 1 173776414 173776414 + Missense_Mutation SNP A A T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 173776414 173776414 A T SNP CENPL ENST00000356198 human ensembl 74_37 -1 known missense c.411 p.F137L 1.000 NULL NULL - no_errors CENPL HGNC ENSG00000120334 tier1 - - 65 0 0.00 64 21 24.71 CKS2 0 genome.wustl.edu 37 9 91930118 91930118 + Silent SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 91930118 91930118 A G SNP CKS2 ENST00000314355 human ensembl 74_37 +1 known silent c.93 p.Q31 1.000 pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub - no_errors CKS2 HGNC ENSG00000123975 tier1 - - 43 0 0.00 59 8 11.94 CLASP1 0 genome.wustl.edu 37 2 122104699 122104699 + Missense_Mutation SNP T T G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 122104699 122104699 T G SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.4445 p.K1482T 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 tier1 - - 42 0 0.00 50 6 10.71 CLEC9A 0 genome.wustl.edu 37 12 10205421 10205421 + RNA DEL T T - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 10205421 10205421 T - DEL CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 25 0 0.00 18 4 18.18 CMYA5 0 genome.wustl.edu 37 5 79025231 79025231 + Silent SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 79025231 79025231 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.643 p.L215 0.069 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 31 0 0.00 35 9 20.45 CNTN6 0 genome.wustl.edu 37 3 1214937 1214937 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 1214937 1214937 C T SNP CNTN6 ENST00000394261 human ensembl 74_37 +1 known missense c.94 p.L32F 0.052 NULL NULL - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 37 0 0.00 52 6 10.34 COG6 0 genome.wustl.edu 37 13 40261650 40261650 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 13 40261650 40261650 G T SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.799 p.D267Y 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 26 0 0.00 49 4 7.55 COL21A1 0 genome.wustl.edu 37 6 56029249 56029249 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 6 56029249 56029249 G A SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.1343 p.P448L 0.996 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 34 0 0.00 27 5 15.62 COL6A3 0 genome.wustl.edu 37 2 238275737 238275737 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 238275737 238275737 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.5093 p.T1698I 0.963 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 56 0 0.00 71 13 15.48 COL6A3 0 genome.wustl.edu 37 2 238289897 238289897 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 238289897 238289897 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.1558 p.G520S 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 41 0 0.00 33 4 10.81 CORO7-PAM16 0 genome.wustl.edu 37 16 4412735 4412735 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 4412735 4412735 C T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.1280 p.G427D 1.000 NULL pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 38 0 0.00 21 12 36.36 CPA5 0 genome.wustl.edu 37 7 130007803 130007803 + Nonsense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 130007803 130007803 C A SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known nonsense c.1095 p.Y365* 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 tier1 - - 52 0 0.00 41 16 28.07 CPD 0 genome.wustl.edu 37 17 28791735 28791735 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 28791735 28791735 G A SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.4046 p.R1349H 1.000 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 23 0 0.00 35 3 7.89 CPQ 0 genome.wustl.edu 37 8 97797153 97797153 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 8 97797153 97797153 G T SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.28 p.G10C 0.002 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 23 0 0.00 34 2 5.56 DCDC1 0 genome.wustl.edu 37 11 31327826 31327826 + Nonsense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 31327826 31327826 C A SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known nonsense c.544 p.G182* 1.000 pfscan_Doublecortin_dom pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 24 0 0.00 32 10 23.81 DENND2A 0 genome.wustl.edu 37 7 140301551 140301551 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 140301551 140301551 C T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.647 p.R216K 0.001 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 27 0 0.00 34 5 12.82 DISC1 0 genome.wustl.edu 37 1 231830164 231830164 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 231830164 231830164 C T SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known silent c.660 p.A220 0.214 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 tier1 - - 28 0 0.00 19 5 20.83 DNASE1L3 0 genome.wustl.edu 37 3 58179028 58179028 + Silent SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 58179028 58179028 T C SNP DNASE1L3 ENST00000483681 human ensembl 74_37 -1 putative silent c.843 p.K281 0.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L3 HGNC ENSG00000163687 28 0 0.00 34 3 8.11 DNMT3A 0 genome.wustl.edu 37 2 25462040 25462040 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 25462040 25462040 G A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known silent c.2367 p.H789 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 - - 38 0 0.00 44 11 20.00 DOCK3 0 genome.wustl.edu 37 3 51352528 51352528 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 51352528 51352528 G T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.3371 p.W1124L 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 20 0 0.00 30 7 18.92 DOCK3 0 genome.wustl.edu 37 3 51352437 51352437 + Nonsense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 51352437 51352437 G T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known nonsense c.3280 p.G1094* 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 12 0 0.00 26 2 7.14 DOCK8 0 genome.wustl.edu 37 9 428369 428369 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 428369 428369 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.4346 p.S1449L 0.977 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 84 0 0.00 59 26 30.23 DPPA3 0 genome.wustl.edu 37 12 7869565 7869565 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 7869565 7869565 G A SNP DPPA3 ENST00000345088 human ensembl 74_37 +1 known silent c.372 p.K124 0.001 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 tier1 - - 31 0 0.00 51 7 12.07 ELMO1 0 genome.wustl.edu 37 7 37264526 37264526 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 37264526 37264526 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.659 p.A220V 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 60 0 0.00 40 12 23.08 ENSG00000216085 0 genome.wustl.edu 37 7 107677352 107677352 + RNA SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 107677352 107677352 G A SNP ENSG00000216085 ENST00000401266 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC005048.1 Clone_based_ensembl_gene ENSG00000216085 tier1 - - 19 0 0.00 20 7 25.93 ENSG00000225411 0 genome.wustl.edu 37 9 68400246 68400246 + RNA SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 68400246 68400246 C T SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs74763289 - 14 0 0.00 4 5 55.56 EPHB2 0 genome.wustl.edu 37 1 23189635 23189635 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 23189635 23189635 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.917 p.R306H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 tier1 - - 59 0 0.00 66 17 20.48 ERBB4 0 genome.wustl.edu 37 2 212288964 212288964 + Nonsense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 212288964 212288964 C A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known nonsense c.2782 p.E928* 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 52 0 0.00 70 4 5.41 ESPL1 0 genome.wustl.edu 37 12 53685797 53685797 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 53685797 53685797 G A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.5721 p.M1907I 0.952 pfam_Peptidase_C50 pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 30 0 0.00 45 5 10.00 FAM138B 0 genome.wustl.edu 37 2 114335612 114335612 + RNA SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 114335612 114335612 G A SNP FAM138B ENST00000432583 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors FAM138B HGNC ENSG00000226516 tier1 - - 47 0 0.00 41 9 18.00 FAM166B 0 genome.wustl.edu 37 9 35562675 35562677 + In_Frame_Del DEL TCA TCA - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 35562675 35562677 TCA - DEL FAM166B ENST00000447837 human ensembl 74_37 -1 known in_frame_del c.515_513 p.D172in_frame_del 0.999:1.000:1.000 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 tier1 30 0 0.00 31 2 6.06 FAM26D 0 genome.wustl.edu 37 6 116875427 116875427 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 6 116875427 116875427 G A SNP FAM26D ENST00000368596 human ensembl 74_37 +1 known silent c.471 p.L157 0.783 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 30 0 0.00 43 3 6.52 FBN1 0 genome.wustl.edu 37 15 48712961 48712961 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 48712961 48712961 C A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.7742 p.C2581F 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 15 0 0.00 19 4 17.39 FCRL3 0 genome.wustl.edu 37 1 157665905 157665905 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 157665905 157665905 C T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1057 p.A353T 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 36 0 0.00 27 14 34.15 FIZ1 0 genome.wustl.edu 37 19 56104860 56104860 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 56104860 56104860 C T SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known silent c.447 p.A149 0.071 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 tier1 - - 47 0 0.00 42 13 23.64 FLYWCH1 0 genome.wustl.edu 37 16 2998732 2998732 + RNA SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 2998732 2998732 G A SNP FLYWCH1 ENST00000570752 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FLYWCH1 HGNC ENSG00000059122 tier1 - - 49 0 0.00 57 20 25.97 FOPNL 0 genome.wustl.edu 37 16 15961369 15961369 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 15961369 15961369 G T SNP FOPNL ENST00000255759 human ensembl 74_37 -1 known missense c.453 p.D151E 0.000 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 27 0 0.00 38 2 5.00 FRMD6 0 genome.wustl.edu 37 14 52194517 52194517 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 14 52194517 52194517 G T SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.1639 p.D547Y 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 tier1 - - 40 0 0.00 55 6 9.84 FSIP1 0 genome.wustl.edu 37 15 40057884 40057884 + Missense_Mutation SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 40057884 40057884 A G SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known missense c.374 p.L125P 1.000 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 tier1 - - 86 0 0.00 125 35 21.88 FZD2 0 genome.wustl.edu 37 17 42635995 42635995 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 42635995 42635995 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.939 p.D313 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 tier1 - - 51 0 0.00 61 13 17.57 GABRA1 0 genome.wustl.edu 37 5 161292738 161292738 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 161292738 161292738 G A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.199 p.E67K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 20 0 0.00 25 13 34.21 GALNT10 0 genome.wustl.edu 37 5 153674404 153674404 + Missense_Mutation SNP T T G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 153674404 153674404 T G SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known missense c.188 p.F63C 0.002 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 tier1 - - 38 0 0.00 66 6 8.33 GOLGA8DP 0 genome.wustl.edu 37 15 22709212 22709212 + RNA SNP G G C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 22709212 22709212 G C SNP GOLGA8DP ENST00000314246 human ensembl 74_37 -1 known rna NULL NULL 0.425 - - - no_errors GOLGA8DP HGNC ENSG00000185182 tier1 - - 110 0 0.00 112 31 21.68 GOLGA8T 0 genome.wustl.edu 37 15 30433079 30433079 + Missense_Mutation SNP A A C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 30433079 30433079 A C SNP GOLGA8T ENST00000569052 human ensembl 74_37 +1 novel missense c.626 p.K209T 0.003 NULL NULL - no_errors GOLGA8T HGNC ENSG00000261247 tier1 - - 100 0 0.00 162 47 22.49 GORASP1 0 genome.wustl.edu 37 3 39140516 39140516 + RNA SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 39140516 39140516 C T SNP GORASP1 ENST00000476334 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors GORASP1 HGNC ENSG00000114745 tier1 - - 19 0 0.00 27 6 18.18 GPAT2 0 genome.wustl.edu 37 2 96689748 96689748 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 96689748 96689748 G A SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known missense c.1819 p.P607S 1.000 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 tier1 - - 52 0 0.00 39 11 22.00 GPR139 0 genome.wustl.edu 37 16 20043988 20043988 + Missense_Mutation SNP T T G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 20043988 20043988 T G SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.131 p.N44T 1.000 prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 21 0 0.00 24 3 11.11 GPR158 0 genome.wustl.edu 37 10 25890514 25890514 + RNA SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 25890514 25890514 C T SNP GPR158 ENST00000490549 human ensembl 74_37 +1 known rna NULL NULL 0.989 - - - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 21 0 0.00 31 8 20.51 GRIK2 0 genome.wustl.edu 37 6 102376297 102376297 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 6 102376297 102376297 G A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known silent c.1875 p.E625 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_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 GRIK2 HGNC ENSG00000164418 tier1 - - 66 0 0.00 56 7 10.94 GRIK5 0 genome.wustl.edu 37 19 42507533 42507533 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 42507533 42507533 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.2465 p.A822V 1.000 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 GRIK5 HGNC ENSG00000105737 tier1 - - 40 0 0.00 45 15 25.00 HAUS5 0 genome.wustl.edu 37 19 36110964 36110964 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 36110964 36110964 C T SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known missense c.1457 p.A486V 0.000 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 tier1 - - 59 0 0.00 70 11 13.58 HECW2 0 genome.wustl.edu 37 2 197080605 197080605 + Frame_Shift_Del DEL T T - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 197080605 197080605 T - DEL HECW2 ENST00000260983 human ensembl 74_37 -1 known frame_shift_del c.4591 p.I1531fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 tier1 23 0 0.00 40 9 18.37 HGFAC 0 genome.wustl.edu 37 4 3446081 3446081 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 4 3446081 3446081 C T SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.642 p.G214 0.342 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 tier1 - - 34 0 0.00 16 4 20.00 HSPG2 0 genome.wustl.edu 37 1 22155399 22155399 + Missense_Mutation SNP C C G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 22155399 22155399 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.12166 p.G4056R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 55 0 0.00 58 6 9.38 HTR4 0 genome.wustl.edu 37 5 147863838 147863838 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 147863838 147863838 C T SNP HTR4 ENST00000360693 human ensembl 74_37 -1 known missense c.1181 p.R394K 0.007 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 17 0 0.00 30 5 14.29 IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 90631934 90631934 C T SNP IDH2 ENST00000330062 human ensembl 74_37 -1 known missense c.419 p.R140Q 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 tier1 rs121913502 - 35 0 0.00 60 4 6.25 ING2 0 genome.wustl.edu 37 4 184431438 184431438 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 4 184431438 184431438 C T SNP ING2 ENST00000302327 human ensembl 74_37 +1 known missense c.176 p.T59M 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING2 HGNC ENSG00000168556 tier1 - - 9 0 0.00 15 4 21.05 INTS10 0 genome.wustl.edu 37 8 19701701 19701701 + Missense_Mutation SNP T T A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 8 19701701 19701701 T A SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known missense c.1834 p.C612S 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 29 0 0.00 29 6 17.14 IQCF3 0 genome.wustl.edu 37 3 51863720 51863720 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 51863720 51863720 C T SNP IQCF3 ENST00000437810 human ensembl 74_37 +1 known missense c.58 p.R20W 0.000 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF3 HGNC ENSG00000229972 tier1 - - 30 0 0.00 18 4 18.18 IRAK2 0 genome.wustl.edu 37 3 10255052 10255052 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 10255052 10255052 C T SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known silent c.690 p.H230 0.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 tier1 - - 26 0 0.00 34 7 17.07 IRGC 0 genome.wustl.edu 37 19 44223001 44223001 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 44223001 44223001 G A SNP IRGC ENST00000244314 human ensembl 74_37 +1 known silent c.291 p.S97 0.000 pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 tier1 rs11555892 - 75 0 0.00 90 15 14.29 JARID2 0 genome.wustl.edu 37 6 15513155 15513155 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 6 15513155 15513155 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.3145 p.R1049C 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 14 0 0.00 28 7 20.00 KCNC3 0 genome.wustl.edu 37 19 50826653 50826653 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 50826653 50826653 G A SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known silent c.1557 p.V519 0.943 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 tier1 rs200349179 - 61 0 0.00 51 17 25.00 KCTD16 0 genome.wustl.edu 37 5 143853531 143853531 + Frame_Shift_Del DEL A A - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 143853531 143853531 A - DEL KCTD16 ENST00000507359 human ensembl 74_37 +1 known frame_shift_del c.1141 p.A384fs 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 13 0 0.00 17 4 19.05 KDM2B 0 genome.wustl.edu 37 12 121951164 121951164 + Nonsense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 121951164 121951164 G T SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known nonsense c.1089 p.C363* 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 47 0 0.00 67 4 5.63 KDR 0 genome.wustl.edu 37 4 55971000 55971000 + Silent SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 4 55971000 55971000 G T SNP KDR ENST00000263923 human ensembl 74_37 -1 known silent c.1797 p.P599 0.541 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,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,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 26 0 0.00 42 3 6.67 KIAA1755 0 genome.wustl.edu 37 20 36841848 36841848 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 20 36841848 36841848 G A SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.3199 p.R1067C 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 79 0 0.00 67 18 20.69 KLF7 0 genome.wustl.edu 37 2 207988664 207988664 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 207988664 207988664 C T SNP KLF7 ENST00000309446 human ensembl 74_37 -1 known silent c.567 p.T189 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF7 HGNC ENSG00000118263 tier1 - - 38 0 0.00 40 11 21.57 KMT2C 0 genome.wustl.edu 37 7 151884535 151884536 + Frame_Shift_Ins INS - - TT TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 151884535 151884536 - TT INS KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_ins c.4820_4819 p.M1607fs 0.421:0.324 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 97 0 0.00 104 38 26.76 KRT25 0 genome.wustl.edu 37 17 38906735 38906735 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 38906735 38906735 C T SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.1072 p.E358K 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 tier1 - - 62 0 0.00 94 6 5.94 KSR2 0 genome.wustl.edu 37 12 118293271 118293271 + Missense_Mutation SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 118293271 118293271 T C SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.434 p.N145S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 38 0 0.00 40 8 16.67 LAMA1 0 genome.wustl.edu 37 18 7043225 7043225 + Splice_Site SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 18 7043225 7043225 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known splice_site c.1155+1 e8+1 1.000 - - - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 42 0 0.00 68 15 18.07 LAMA3 0 genome.wustl.edu 37 18 21399944 21399944 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 18 21399944 21399944 C A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.2287 p.Q763K 1.000 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 22 0 0.00 42 14 25.00 LGR6 0 genome.wustl.edu 37 1 202245467 202245467 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 202245467 202245467 G A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known silent c.462 p.P154 0.959 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 26 0 0.00 37 2 5.13 LOC399715 0 genome.wustl.edu 37 10 6371111 6371111 + RNA SNP T T G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 6371111 6371111 T G SNP LOC399715 ENST00000399868 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-563J2.2 Clone_based_vega_gene ENSG00000215244 tier1 - - 12 0 0.00 12 4 25.00 LRIT1 0 genome.wustl.edu 37 10 85991794 85991794 + Silent SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 85991794 85991794 C A SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known silent c.1761 p.L587 0.196 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 tier1 - - 35 0 0.00 21 4 16.00 LRRC63 0 genome.wustl.edu 37 13 46850816 46850816 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 13 46850816 46850816 C A SNP LRRC63 ENST00000595396 human ensembl 74_37 +1 novel missense c.1642 p.P548T 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 tier1 - - 45 0 0.00 55 14 20.29 MAP1B 0 genome.wustl.edu 37 5 71403400 71403400 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 71403400 71403400 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.42 p.S14 0.987 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 29 0 0.00 23 6 20.69 MAPK6 0 genome.wustl.edu 37 15 52342251 52342251 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 52342251 52342251 C T SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known missense c.617 p.P206L 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_MAPK_ERK3/4 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 - - 37 0 0.00 65 11 14.47 MAST1 0 genome.wustl.edu 37 19 12969475 12969475 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 12969475 12969475 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.1288 p.E430K 0.998 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 - - 68 0 0.00 76 11 12.64 MBTD1 0 genome.wustl.edu 37 17 49270861 49270861 + Missense_Mutation SNP T T G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 49270861 49270861 T G SNP MBTD1 ENST00000415868 human ensembl 74_37 -1 known missense c.1383 p.K461N 1.000 pfam_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 tier1 - - 21 0 0.00 39 7 14.89 MCF2L 0 genome.wustl.edu 37 13 113714953 113714953 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 13 113714953 113714953 C T SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.587 p.T196M 0.967 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 15 0 0.00 23 4 14.81 MED1 0 genome.wustl.edu 37 17 37566445 37566445 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 37566445 37566445 G A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.2029 p.R677C 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 tier1 - - 26 0 0.00 27 8 22.86 MIR361 0 genome.wustl.edu 37 X 85158642 85158642 + RNA SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e X 85158642 85158642 A G SNP MIR361 ENST00000362181 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR361 HGNC ENSG00000199051 tier1 - - 33 0 0.00 37 19 33.93 MIR548A3 0 genome.wustl.edu 37 8 105496666 105496666 + RNA SNP T T G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 8 105496666 105496666 T G SNP MIR548A3 ENST00000385297 human ensembl 74_37 -1 known rna NULL NULL 0.311 - - - no_errors MIR548A3 HGNC ENSG00000208032 tier1 - - 22 0 0.00 29 5 14.71 MIR548I4 0 genome.wustl.edu 37 X 83480784 83480784 + RNA SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e X 83480784 83480784 G A SNP MIR548I4 ENST00000408567 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR548I4 HGNC ENSG00000221494 tier1 - - 19 0 0.00 21 15 41.67 MS4A7 0 genome.wustl.edu 37 11 60152619 60152619 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 60152619 60152619 C A SNP MS4A7 ENST00000300184 human ensembl 74_37 +1 known missense c.206 p.A69D 0.018 pfam_CD20-like pfam_CD20-like - no_errors MS4A7 HGNC ENSG00000166927 62 0 0.00 72 4 5.26 MSTN 0 genome.wustl.edu 37 2 190922360 190922360 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 190922360 190922360 G T SNP MSTN ENST00000260950 human ensembl 74_37 -1 known missense c.752 p.P251Q 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 21 0 0.00 26 4 13.33 MT-ND5 0 genome.wustl.edu 37 MT 12801 12801 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e MT 12801 12801 C A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.465 p.I155M NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 248 0 0.00 9 2 18.18 MTO1 0 genome.wustl.edu 37 6 74190435 74190435 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 6 74190435 74190435 G T SNP MTO1 ENST00000415954 human ensembl 74_37 +1 known missense c.1167 p.Q389H 1.000 pfam_GIDA-rel,tigrfam_GidA pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 92 0 0.00 75 4 5.06 MUC17 0 genome.wustl.edu 37 7 100693828 100693828 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 100693828 100693828 G T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.12786 p.K4262N 0.000 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 22 0 0.00 71 4 5.33 MYO6 0 genome.wustl.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 6 76599857 76599858 - A INS MYO6 ENST00000369981 human ensembl 74_37 +1 known frame_shift_ins c.2742_2743 p.Q917fs 1.000:1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 10 0 0.00 13 2 13.33 MYOF 0 genome.wustl.edu 37 10 95097551 95097551 + RNA SNP T T A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 95097551 95097551 T A SNP MYOF ENST00000475358 human ensembl 74_37 -1 known rna NULL NULL 0.096 - - - no_errors MYOF HGNC ENSG00000138119 tier1 - - 49 0 0.00 61 7 10.29 NBEAL2 0 genome.wustl.edu 37 3 47037271 47037271 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 47037271 47037271 G T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.1966 p.V656L 1.000 superfamily_ConA-like_lec_gl_sf 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 tier1 - - 50 0 0.00 75 6 7.41 NFKBID 0 genome.wustl.edu 37 19 36387329 36387329 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 36387329 36387329 C T SNP NFKBID ENST00000352614 human ensembl 74_37 -1 known missense c.826 p.V276M 0.708 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 - no_errors NFKBID HGNC ENSG00000167604 tier1 - - 51 0 0.00 69 24 25.81 NLGN1 0 genome.wustl.edu 37 3 173996722 173996722 + Missense_Mutation SNP A A C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 173996722 173996722 A C SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1051 p.K351Q 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 31 0 0.00 23 8 25.81 NMUR2 0 genome.wustl.edu 37 5 151775087 151775087 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 151775087 151775087 G T SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known missense c.870 p.F290L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 tier1 - - 32 0 0.00 49 4 7.55 NOC4L 0 genome.wustl.edu 37 12 132632280 132632280 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 132632280 132632280 C A SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known missense c.556 p.Q186K 0.999 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 47 0 0.00 56 3 5.08 NPBWR1 0 genome.wustl.edu 37 8 53852892 53852892 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 8 53852892 53852892 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.425 p.A142V 0.930 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 tier1 - - 60 0 0.00 92 19 17.12 NR2C1 0 genome.wustl.edu 37 12 95434294 95434294 + Nonsense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 95434294 95434294 G T SNP NR2C1 ENST00000333003 human ensembl 74_37 -1 known nonsense c.1211 p.S404* 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 40 0 0.00 57 4 6.56 NUP160 0 genome.wustl.edu 37 11 47869783 47869783 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 47869783 47869783 C T SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.190 p.V64I 0.154 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 tier1 - - 46 0 0.00 58 9 13.43 OBSL1 0 genome.wustl.edu 37 2 220432177 220432177 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 220432177 220432177 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1655 p.R552Q 0.991 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 64 0 0.00 59 10 14.49 OGN 0 genome.wustl.edu 37 9 95152121 95152121 + RNA SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 95152121 95152121 C T SNP OGN ENST00000468743 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OGN HGNC ENSG00000106809 tier1 - - 43 0 0.00 76 7 8.43 OR10H5 0 genome.wustl.edu 37 19 15904866 15904866 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 15904866 15904866 G A SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known missense c.8 p.G3E 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 tier1 - - 76 0 0.00 98 6 5.77 OR10Z1 0 genome.wustl.edu 37 1 158576428 158576428 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 158576428 158576428 C T SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.200 p.S67F 0.233 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 - - 81 0 0.00 137 12 8.05 OR2AJ1 0 genome.wustl.edu 37 1 248097435 248097435 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 248097435 248097435 G T SNP OR2AJ1 ENST00000318244 human ensembl 74_37 +1 known missense c.365 p.R122L 1.000 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 OR2AJ1 HGNC ENSG00000177275 tier1 - - 76 0 0.00 81 16 16.49 OR4A16 0 genome.wustl.edu 37 11 55110731 55110731 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 55110731 55110731 C A SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.55 p.P19T 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 tier1 - - 31 0 0.00 44 4 8.33 OR4A16 0 genome.wustl.edu 37 11 55110724 55110724 + Silent SNP T T A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 55110724 55110724 T A SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known silent c.48 p.T16 0.011 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 29 0 0.00 41 3 6.82 OR51M1 0 genome.wustl.edu 37 11 5411391 5411391 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 5411391 5411391 G A SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.763 p.A255T 0.028 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 tier1 - - 64 0 0.00 57 13 18.57 OR6N2 0 genome.wustl.edu 37 1 158746862 158746862 + Silent SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 158746862 158746862 G T SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known silent c.564 p.A188 0.753 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 OR6N2 HGNC ENSG00000188340 tier1 - - 13 0 0.00 29 8 21.62 PASD1 0 genome.wustl.edu 37 X 150840900 150840900 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e X 150840900 150840900 G T SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.1683 p.E561D 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 8 0 0.00 17 4 19.05 PCDH11X 0 genome.wustl.edu 37 X 91134272 91134272 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e X 91134272 91134272 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.3033 p.P1011 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 rs138111592 - 29 0 0.00 36 20 35.71 PCDH17 0 genome.wustl.edu 37 13 58207464 58207464 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 13 58207464 58207464 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.784 p.V262I 0.975 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 35 0 0.00 39 11 21.57 PCDHA12 0 genome.wustl.edu 37 5 140255185 140255185 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 140255185 140255185 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.128 p.T43I 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 80 0 0.00 77 13 14.44 PCDHA8 0 genome.wustl.edu 37 5 140220914 140220914 + Missense_Mutation SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 140220914 140220914 A G SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.8 p.Y3C 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 53 0 0.00 55 9 14.06 PCDHA9 0 genome.wustl.edu 37 5 140229147 140229147 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 140229147 140229147 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1067 p.S356L 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 51 0 0.00 68 19 21.84 PCNXL3 0 genome.wustl.edu 37 11 65402568 65402568 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 65402568 65402568 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.4930 p.R1644C 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 47 0 0.00 54 15 21.74 PDCD11 0 genome.wustl.edu 37 10 105178266 105178266 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 105178266 105178266 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.1981 p.R661C 0.004 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 73 0 0.00 71 17 19.32 PDE4DIP 0 genome.wustl.edu 37 1 144930990 144930990 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 144930990 144930990 G A SNP PDE4DIP ENST00000313431 human ensembl 74_37 -1 known missense c.719 p.S240F 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 55 0 0.00 79 11 12.22 PKD1L2 0 genome.wustl.edu 37 16 81208261 81208261 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 81208261 81208261 G A SNP PKD1L2 ENST00000527937 human ensembl 74_37 -1 known missense c.610 p.R204W 0.000 pfscan_REJ-like superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 tier1 rs200844830 - 29 0 0.00 36 8 18.18 PKDREJ 0 genome.wustl.edu 37 22 46653522 46653522 + Nonsense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 22 46653522 46653522 C A SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known nonsense c.5698 p.E1900* 0.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 tier1 - - 39 0 0.00 56 6 9.68 PLCE1 0 genome.wustl.edu 37 10 96033382 96033382 + Missense_Mutation SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 96033382 96033382 A G SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.4570 p.M1524V 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 32 0 0.00 31 10 24.39 POLD1 0 genome.wustl.edu 37 19 50912814 50912814 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 50912814 50912814 G A SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.2045 p.R682Q 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 tier1 - - 43 0 0.00 58 7 10.77 POLRMT 0 genome.wustl.edu 37 19 621120 621120 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 621120 621120 G A SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.2578 p.R860C 0.981 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 tier1 - - 56 0 0.00 40 19 31.67 PRKCB 0 genome.wustl.edu 37 16 24192246 24192246 + Silent SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 24192246 24192246 C A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.1530 p.P510 0.009 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_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom 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 - - 56 0 0.00 65 14 17.72 PSG8 0 genome.wustl.edu 37 19 43257451 43257451 + RNA SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 43257451 43257451 G T SNP PSG8 ENST00000600709 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors PSG8 HGNC ENSG00000124467 tier1 - - 55 0 0.00 73 19 20.65 PTCHD3 0 genome.wustl.edu 37 10 27687303 27687303 + Missense_Mutation SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 27687303 27687303 T C SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.2224 p.N742D 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 24 0 0.00 54 4 6.90 PTCHD3 0 genome.wustl.edu 37 10 27702951 27702951 + Missense_Mutation SNP G G C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 27702951 27702951 G C SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.229 p.R77G 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 15 0 0.00 31 4 7.84 PXDN 0 genome.wustl.edu 37 2 1652754 1652754 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 1652754 1652754 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2798 p.R933H 0.813 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 53 0 0.00 40 11 21.57 RAPH1 0 genome.wustl.edu 37 2 204354324 204354324 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 204354324 204354324 C A SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.715 p.G239W 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 30 0 0.00 30 2 6.25 RETSAT 0 genome.wustl.edu 37 2 85578038 85578038 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 85578038 85578038 G T SNP RETSAT ENST00000295802 human ensembl 74_37 -1 known missense c.462 p.D154E 0.995 pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 tier1 - - 42 0 0.00 51 4 7.27 RGPD3 0 genome.wustl.edu 37 2 107084742 107084742 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 107084742 107084742 C A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3 p.M1I 0.996 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 137 0 0.00 138 9 6.12 RIMS2 0 genome.wustl.edu 37 8 105235993 105235993 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 8 105235993 105235993 C T SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known silent c.114 p.C38 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 60 0 0.00 83 18 17.82 RP9P 0 genome.wustl.edu 37 7 32961042 32961042 + RNA SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 32961042 32961042 C T SNP RP9P ENST00000381639 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP9P HGNC ENSG00000205763 tier1 - - 54 0 0.00 58 13 18.31 RPL29 0 genome.wustl.edu 37 3 52027882 52027882 + Silent SNP T T G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 52027882 52027882 T G SNP RPL29 ENST00000294189 human ensembl 74_37 -1 known silent c.363 p.P121 0.998 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC ENSG00000162244 46 0 0.00 60 9 13.04 RPS26 0 genome.wustl.edu 37 12 56436329 56436329 + Nonsense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 56436329 56436329 C T SNP RPS26 ENST00000356464 human ensembl 74_37 +1 known nonsense c.124 p.R42* 1.000 pfam_Ribosomal_S26e pfam_Ribosomal_S26e - no_errors RPS26 HGNC ENSG00000197728 61 0 0.00 89 10 10.10 RPS6KA6 0 genome.wustl.edu 37 X 83352797 83352797 + Missense_Mutation SNP A A C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e X 83352797 83352797 A C SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1836 p.F612L 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 tier1 - - 36 0 0.00 41 12 22.64 RTN1 0 genome.wustl.edu 37 14 60194227 60194227 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 14 60194227 60194227 G T SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.1175 p.P392Q 0.487 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 30 0 0.00 55 3 5.17 RTN3 0 genome.wustl.edu 37 11 63487933 63487933 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 63487933 63487933 C A SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.1959 p.D653E 0.997 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 22 0 0.00 31 3 8.82 SCNN1A 0 genome.wustl.edu 37 12 6457259 6457259 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 12 6457259 6457259 C T SNP SCNN1A ENST00000358945 human ensembl 74_37 -1 known missense c.1856 p.R619Q 0.659 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 28 0 0.00 28 3 9.68 SDK1 0 genome.wustl.edu 37 7 4051852 4051852 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 4051852 4051852 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2405 p.R802H 0.079 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,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 SDK1 HGNC ENSG00000146555 tier1 - - 24 0 0.00 45 8 15.09 SETD1A 0 genome.wustl.edu 37 16 30976498 30976498 + Missense_Mutation SNP A A T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 30976498 30976498 A T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.1435 p.S479C 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 tier1 - - 24 0 0.00 26 11 29.73 SGTA 0 genome.wustl.edu 37 19 2763650 2763650 + Splice_Site SNP C C G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 2763650 2763650 C G SNP SGTA ENST00000221566 human ensembl 74_37 -1 known splice_site c.497+1 e5+1 1.000 - - - no_errors SGTA HGNC ENSG00000104969 tier1 - - 53 0 0.00 40 7 14.89 SIDT2 0 genome.wustl.edu 37 11 117066610 117066610 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 117066610 117066610 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known silent c.2478 p.I826 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 tier1 - - 60 0 0.00 66 6 8.33 SIRPB2 0 genome.wustl.edu 37 20 1460678 1460678 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 20 1460678 1460678 G T SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known missense c.118 p.Q40K 0.535 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 tier1 - - 38 0 0.00 57 4 6.56 SKOR1 0 genome.wustl.edu 37 15 68119146 68119146 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 68119146 68119146 G A SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.980 p.R327H 0.870 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 tier1 - - 21 0 0.00 6 5 45.45 SMCR5 0 genome.wustl.edu 37 17 17682235 17682235 + RNA SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 17682235 17682235 G T SNP SMCR5 ENST00000543475 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SMCR5 HGNC ENSG00000226746 tier1 - - 31 0 0.00 41 4 8.89 SOX13 0 genome.wustl.edu 37 1 204085774 204085774 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 204085774 204085774 G T SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known missense c.558 p.Q186H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 33 0 0.00 47 4 7.84 SPANXN3 0 genome.wustl.edu 37 X 142605168 142605168 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e X 142605168 142605168 C T SNP SPANXN3 ENST00000370503 human ensembl 74_37 -1 known missense c.52 p.E18K 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN3 HGNC ENSG00000189252 tier1 - - 49 0 0.00 40 33 45.21 SPATA5 0 genome.wustl.edu 37 4 124235172 124235172 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 4 124235172 124235172 C A SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.2635 p.R879S 0.996 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 25 0 0.00 21 2 8.70 SPEM1 0 genome.wustl.edu 37 17 7324809 7324809 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 7324809 7324809 G A SNP SPEM1 ENST00000323675 human ensembl 74_37 +1 known missense c.815 p.R272Q 0.292 NULL NULL - no_errors SPEM1 HGNC ENSG00000181323 tier1 - - 28 0 0.00 40 13 24.53 SRBD1 0 genome.wustl.edu 37 2 45807093 45807093 + Silent SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 45807093 45807093 G T SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known silent c.993 p.G331 1.000 pfam_Tex-like_N pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 tier1 - - 35 0 0.00 27 4 12.90 SRP54 0 genome.wustl.edu 37 14 35482573 35482573 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 14 35482573 35482573 G T SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.658 p.V220L 1.000 pfam_SRP54_GTPase_dom,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 43 0 0.00 73 4 5.19 SRSF2 0 genome.wustl.edu 37 17 74732959 74732959 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 74732959 74732959 G A SNP SRSF2 ENST00000359995 human ensembl 74_37 -1 known missense c.284 p.P95L 0.989 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 25 0 0.00 24 5 17.24 STK38 0 genome.wustl.edu 37 6 36483172 36483172 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 6 36483172 36483172 G T SNP STK38 ENST00000229812 human ensembl 74_37 -1 known missense c.612 p.H204Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38 HGNC ENSG00000112079 44 0 0.00 50 3 5.66 STMND1 0 genome.wustl.edu 37 6 17115350 17115350 + Frame_Shift_Del DEL G G - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 6 17115350 17115350 G - DEL STMND1 ENST00000536551 human ensembl 74_37 +1 known frame_shift_del c.239 p.R80fs 0.171 NULL pfam_Stathmin_fam,superfamily_Stathmin_fam - no_errors STMND1 HGNC ENSG00000230873 tier1 33 0 0.00 26 5 16.13 SULF1 0 genome.wustl.edu 37 8 70501314 70501314 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 8 70501314 70501314 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.672 p.P224 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 28 0 0.00 45 11 19.64 SYCE1 0 genome.wustl.edu 37 10 135369520 135369520 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 135369520 135369520 G A SNP SYCE1 ENST00000343131 human ensembl 74_37 -1 known missense c.560 p.A187V 0.163 NULL NULL - no_errors SYCE1 HGNC ENSG00000171772 63 0 0.00 71 4 5.33 TBX21 0 genome.wustl.edu 37 17 45819977 45819977 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 45819977 45819977 C T SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known missense c.493 p.R165W 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 tier1 - - 66 0 0.00 54 19 26.03 TCEAL4 0 genome.wustl.edu 37 X 102842229 102842229 + Missense_Mutation SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e X 102842229 102842229 T C SNP TCEAL4 ENST00000372629 human ensembl 74_37 +1 known missense c.1055 p.I352T 0.919 NULL pfam_TF_A-like/BEX-like - no_errors TCEAL4 HGNC ENSG00000133142 16 0 0.00 53 6 10.17 TDRD15 0 genome.wustl.edu 37 2 21360430 21360430 + Missense_Mutation SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 21360430 21360430 T C SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.91 p.F31L 1.000 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 25 0 0.00 34 5 12.82 TGS1 0 genome.wustl.edu 37 8 56699011 56699011 + Frame_Shift_Del DEL A A - TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 8 56699011 56699011 A - DEL TGS1 ENST00000260129 human ensembl 74_37 +1 known frame_shift_del c.554 p.N186fs 1.000 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 tier1 26 0 0.00 34 2 5.56 TIFAB 0 genome.wustl.edu 37 5 134785568 134785568 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 134785568 134785568 G A SNP TIFAB ENST00000537858 human ensembl 74_37 -1 known missense c.62 p.A21V 0.028 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain - no_errors TIFAB HGNC ENSG00000255833 tier1 - - 42 0 0.00 42 13 23.64 TLN1 0 genome.wustl.edu 37 9 35725661 35725661 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 35725661 35725661 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.31 p.G11R 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 20 0 0.00 23 3 11.54 TMTC1 0 genome.wustl.edu 37 12 29936515 29936515 + Missense_Mutation SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 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 - - 59 0 0.00 77 13 14.44 TOX2 0 genome.wustl.edu 37 20 42695425 42695425 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 20 42695425 42695425 C T SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known missense c.1412 p.P471L 0.927 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 tier1 - - 60 0 0.00 53 16 23.19 TP53 0 genome.wustl.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 7577548 7577548 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.733 p.G245S 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934575 - 61 0 0.00 70 22 23.91 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 27 0 0.00 26 8 23.53 TRIP4 0 genome.wustl.edu 37 15 64687622 64687622 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 15 64687622 64687622 C T SNP TRIP4 ENST00000261884 human ensembl 74_37 +1 known silent c.297 p.G99 0.973 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 23 0 0.00 36 3 7.69 TRPV1 0 genome.wustl.edu 37 17 3493244 3493244 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 17 3493244 3493244 C T SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.901 p.D301N 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 tier1 - - 52 0 0.00 47 15 24.19 TSSC1 0 genome.wustl.edu 37 2 3358353 3358353 + Missense_Mutation SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 3358353 3358353 C A SNP TSSC1 ENST00000382125 human ensembl 74_37 -1 known missense c.94 p.V32F 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 tier1 - - 42 0 0.00 64 22 25.58 TTC13 0 genome.wustl.edu 37 1 231076236 231076236 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 231076236 231076236 G A SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.739 p.P247S 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 TTC13 HGNC ENSG00000143643 tier1 - - 38 0 0.00 43 12 21.82 TTC13 0 genome.wustl.edu 37 1 231076237 231076237 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 1 231076237 231076237 C T SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known silent c.738 p.Q246 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 TTC13 HGNC ENSG00000143643 tier1 - - 38 0 0.00 44 11 20.00 TTLL4 0 genome.wustl.edu 37 2 219603750 219603750 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 2 219603750 219603750 G A SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.1351 p.A451T 0.018 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 tier1 - - 37 0 0.00 63 6 8.70 TTYH1 0 genome.wustl.edu 37 19 54942051 54942051 + Nonsense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 54942051 54942051 C T SNP TTYH1 ENST00000376531 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 0.999 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 tier1 - - 83 0 0.00 81 25 23.58 TUBBP5 0 genome.wustl.edu 37 9 141069223 141069223 + RNA SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 9 141069223 141069223 T C SNP TUBBP5 ENST00000503395 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors TUBBP5 HGNC ENSG00000159247 28 0 0.00 32 4 11.11 TWISTNB 0 genome.wustl.edu 37 7 19739848 19739848 + Missense_Mutation SNP A A T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 7 19739848 19739848 A T SNP TWISTNB ENST00000222567 human ensembl 74_37 -1 known missense c.452 p.F151Y 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 38 0 0.00 44 3 6.38 UBA5 0 genome.wustl.edu 37 3 132395299 132395299 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 132395299 132395299 G T SNP UBA5 ENST00000356232 human ensembl 74_37 +1 known missense c.1144 p.V382F 0.033 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA5 HGNC ENSG00000081307 tier1 - - 27 0 0.00 28 4 12.50 UNC93B1 0 genome.wustl.edu 37 11 67759287 67759287 + Silent SNP C C A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 67759287 67759287 C A SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known silent c.1521 p.A507 0.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 20 0 0.00 23 5 17.86 UNKL 0 genome.wustl.edu 37 16 1416329 1416329 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 16 1416329 1416329 C T SNP UNKL ENST00000389221 human ensembl 74_37 -1 known missense c.1955 p.R652Q 0.779 pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 41 0 0.00 21 3 12.50 USP28 0 genome.wustl.edu 37 11 113698017 113698017 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 11 113698017 113698017 G A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known silent c.1125 p.S375 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 24 0 0.00 30 2 6.25 VCAN 0 genome.wustl.edu 37 5 82837981 82837981 + Silent SNP T T C TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 82837981 82837981 T C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.9159 p.T3053 0.002 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 21 0 0.00 39 8 17.02 VTI1A 0 genome.wustl.edu 37 10 114207157 114207157 + Missense_Mutation SNP A A G TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 10 114207157 114207157 A G SNP VTI1A ENST00000393077 human ensembl 74_37 +1 known missense c.26 p.E9G 1.000 superfamily_t-SNARE pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1A HGNC ENSG00000151532 tier1 - - 41 0 0.00 27 15 35.71 ZFYVE16 0 genome.wustl.edu 37 5 79747495 79747495 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 5 79747495 79747495 C T SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.3574 p.R1192C 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 tier1 - - 35 0 0.00 45 4 8.16 ZNF132 0 genome.wustl.edu 37 19 58945571 58945571 + Nonsense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 58945571 58945571 G A SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known nonsense c.1240 p.R414* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF132 HGNC ENSG00000131849 tier1 - - 59 0 0.00 50 15 23.08 ZNF385D 0 genome.wustl.edu 37 3 21478515 21478515 + Missense_Mutation SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 3 21478515 21478515 G A SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.620 p.S207L 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 100 0 0.00 125 19 13.19 ZNF528 0 genome.wustl.edu 37 19 52919182 52919182 + Silent SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 52919182 52919182 C T SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known silent c.1077 p.G359 0.885 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 ZNF528 HGNC ENSG00000167555 25 0 0.00 24 3 11.11 ZNF558 0 genome.wustl.edu 37 19 8922177 8922177 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 8922177 8922177 C T SNP ZNF558 ENST00000301475 human ensembl 74_37 -1 known missense c.989 p.S330N 0.723 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 ZNF558 HGNC ENSG00000167785 tier1 - - 36 0 0.00 63 13 17.11 ZNF835 0 genome.wustl.edu 37 19 57175634 57175634 + Silent SNP G G A TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb19b408-d32e-4659-80ad-9fc2efa25260 455d8943-a709-4328-ac50-72df33b3ab0e 19 57175634 57175634 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.933 p.C311 0.935 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 76 0 0.00 90 19 17.43