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 ABHD17A 0 genome.wustl.edu 37 19 1881527 1881527 + Frame_Shift_Del DEL G G - TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 1881527 1881527 G - DEL ABHD17A ENST00000250974 human ensembl 74_37 -1 known frame_shift_del c.39 p.C14fs 1.000 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 tier1 20 0 0.00 6 3 33.33 ABHD17A 0 genome.wustl.edu 37 19 1881529 1881530 + Frame_Shift_Del DEL AG AG - TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 1881529 1881530 AG - DEL ABHD17A ENST00000250974 human ensembl 74_37 -1 known frame_shift_del c.37_36 p.F13fs 1.000:0.997 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 tier1 20 0 0.00 6 3 33.33 ABRA 0 genome.wustl.edu 37 8 107781944 107781944 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 8 107781944 107781944 G A SNP ABRA ENST00000311955 human ensembl 74_37 -1 known missense c.475 p.R159W 0.985 NULL NULL - no_errors ABRA HGNC ENSG00000174429 tier1 rs148548347 - 107 0 0.00 81 22 21.36 ACBD5 0 genome.wustl.edu 37 10 27524039 27524039 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 10 27524039 27524039 G T SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known missense c.278 p.P93H 1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 29 0 0.00 36 4 10.00 ACOT12 0 genome.wustl.edu 37 5 80628300 80628300 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 80628300 80628300 C A SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known missense c.1387 p.D463Y 0.029 pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 tier1 - - 34 0 0.00 56 10 15.15 ADAM32 0 genome.wustl.edu 37 8 39007314 39007314 + Missense_Mutation SNP A A T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 8 39007314 39007314 A T SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.281 p.Q94L 0.278 pfam_Peptidase_M12B_N 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 - no_errors ADAM32 HGNC ENSG00000197140 tier1 - - 38 0 0.00 32 8 20.00 ADCY2 0 genome.wustl.edu 37 5 7520985 7520985 + Silent SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 7520985 7520985 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.543 p.P181 0.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 79 0 0.00 81 12 12.90 ALDH3B1 0 genome.wustl.edu 37 11 67787219 67787219 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 67787219 67787219 G C SNP ALDH3B1 ENST00000007633 human ensembl 74_37 +1 known missense c.513 p.E171D 0.993 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,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 ALDH3B1 HGNC ENSG00000006534 tier1 - - 142 0 0.00 125 27 17.76 ANAPC2 0 genome.wustl.edu 37 9 140070157 140070157 + RNA SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 9 140070157 140070157 C A SNP ANAPC2 ENST00000483432 human ensembl 74_37 -1 known rna NULL NULL 0.927 - - - no_errors ANAPC2 HGNC ENSG00000176248 tier1 - - 122 0 0.00 83 11 11.58 ANK2 0 genome.wustl.edu 37 4 114293758 114293758 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 4 114293758 114293758 G T SNP ANK2 ENST00000510275 human ensembl 74_37 +1 novel missense c.1381 p.V461F 1.000 NULL pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors ANK2 HGNC ENSG00000145362 45 0 0.00 49 5 9.26 ANTXR1 0 genome.wustl.edu 37 2 69351771 69351771 + Missense_Mutation SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 2 69351771 69351771 A G SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.947 p.H316R 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 tier1 - - 57 0 0.00 58 13 18.31 ARHGAP31 0 genome.wustl.edu 37 3 119120938 119120938 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 119120938 119120938 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1339 p.A447T 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 32 0 0.00 31 3 8.82 ASNS 0 genome.wustl.edu 37 7 97482391 97482391 + Missense_Mutation SNP T T C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 97482391 97482391 T C SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.1457 p.Q486R 1.000 NULL pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 32 0 0.00 29 8 21.62 ATP8A2 0 genome.wustl.edu 37 13 26343263 26343263 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 13 26343263 26343263 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.2464 p.G822S 1.000 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP8A2 HGNC ENSG00000132932 tier1 - - 73 0 0.00 43 9 17.31 B4GALNT1 0 genome.wustl.edu 37 12 58022875 58022875 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 12 58022875 58022875 G A SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.767 p.P256L 0.038 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 rs200510000 - 64 0 0.00 44 8 15.38 BBS4 0 genome.wustl.edu 37 15 73029250 73029250 + Missense_Mutation SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 15 73029250 73029250 C G SNP BBS4 ENST00000395205 human ensembl 74_37 +1 known missense c.1420 p.Q474E 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors BBS4 HGNC ENSG00000140463 31 0 0.00 37 3 7.32 C9orf131 0 genome.wustl.edu 37 9 35043395 35043395 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 9 35043395 35043395 G T SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.769 p.A257S 0.004 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 tier1 - - 43 0 0.00 56 4 6.67 CCDC73 0 genome.wustl.edu 37 11 32635220 32635220 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 32635220 32635220 C T SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known missense c.2644 p.G882R 1.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 tier1 rs201070131 - 67 0 0.00 47 5 9.62 CD63 0 genome.wustl.edu 37 12 56121049 56121049 + Silent SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 12 56121049 56121049 A G SNP CD63 ENST00000257857 human ensembl 74_37 -1 known silent c.141 p.A47 0.001 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD63 HGNC ENSG00000135404 31 0 0.00 42 3 6.67 CDC42BPB 0 genome.wustl.edu 37 14 103433438 103433438 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 14 103433438 103433438 C T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.2416 p.A806T 0.992 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 tier1 - - 55 0 0.00 75 10 11.76 CDH7 0 genome.wustl.edu 37 18 63430163 63430163 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 18 63430163 63430163 C A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.85 p.L29I 0.996 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 53 0 0.00 52 10 16.13 CEACAM3 0 genome.wustl.edu 37 19 42314366 42314366 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 42314366 42314366 G T SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known missense c.601 p.G201C 0.000 NULL pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 74 0 0.00 66 4 5.71 CEP170B 0 genome.wustl.edu 37 14 105360904 105360904 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 14 105360904 105360904 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.4504 p.R1502W 0.906 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 tier1 - - 106 0 0.00 75 7 8.54 CEPT1 0 genome.wustl.edu 37 1 111703575 111703576 + RNA INS - - A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 111703575 111703576 - A INS CEPT1 ENST00000480324 human ensembl 74_37 +1 known rna NULL NULL 0.073:0.207 - - - no_errors CEPT1 HGNC ENSG00000134255 tier1 16 0 0.00 15 4 21.05 CFB 0 genome.wustl.edu 37 6 31912622 31912622 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 6 31912622 31912622 C A SNP CFB ENST00000556679 human ensembl 74_37 +1 known missense c.1562 p.P521H 0.979 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 tier1 - - 61 0 0.00 71 24 25.26 CFH 0 genome.wustl.edu 37 1 196706673 196706673 + Nonsense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 196706673 196706673 G T SNP CFH ENST00000367429 human ensembl 74_37 +1 known nonsense c.2665 p.E889* 0.706 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 40 0 0.00 39 4 9.30 CHRM4 0 genome.wustl.edu 37 11 46407375 46407375 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 46407375 46407375 G A SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known missense c.733 p.L245F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 tier1 - - 76 0 0.00 76 9 10.59 CNTNAP2 0 genome.wustl.edu 37 7 147844591 147844591 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 147844591 147844591 G C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2563 p.E855Q 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 44 0 0.00 58 8 12.12 CNTNAP3 0 genome.wustl.edu 37 9 39103809 39103809 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 9 39103809 39103809 G C SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.2468 p.T823S 0.998 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 - - 83 0 0.00 88 9 9.28 COG7 0 genome.wustl.edu 37 16 23428334 23428334 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 16 23428334 23428334 G T SNP COG7 ENST00000307149 human ensembl 74_37 -1 known missense c.1246 p.L416M 1.000 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 50 0 0.00 36 2 5.26 COL15A1 0 genome.wustl.edu 37 9 101784427 101784427 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 9 101784427 101784427 C T SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.1756 p.P586S 0.779 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 tier1 - - 71 0 0.00 51 17 25.00 COL16A1 0 genome.wustl.edu 37 1 32165447 32165447 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 32165447 32165447 C T SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.233 p.R78H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 tier1 - - 57 0 0.00 50 14 21.88 COL4A2 0 genome.wustl.edu 37 13 111145564 111145564 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 13 111145564 111145564 C T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.3569 p.P1190L 0.266 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 46 0 0.00 45 3 6.25 COL7A1 0 genome.wustl.edu 37 3 48606262 48606262 + Silent SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 48606262 48606262 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.7713 p.K2571 0.997 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 124 0 0.00 94 20 17.54 CTNNAL1 0 genome.wustl.edu 37 9 111705299 111705299 + Missense_Mutation SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 9 111705299 111705299 C G SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known missense c.2081 p.R694T 1.000 superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 tier1 - - 36 0 0.00 23 4 14.81 CUBN 0 genome.wustl.edu 37 10 16945979 16945979 + Missense_Mutation SNP T T C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 10 16945979 16945979 T C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.8048 p.K2683R 0.004 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 28 0 0.00 29 4 12.12 DCX 0 genome.wustl.edu 37 X 110576330 110576330 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 X 110576330 110576330 C A SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.1000 p.G334C 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 tier1 - - 22 0 0.00 16 3 15.79 DNAJC7 0 genome.wustl.edu 37 17 40142298 40142298 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 40142298 40142298 C T SNP DNAJC7 ENST00000457167 human ensembl 74_37 -1 known missense c.583 p.A195T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC7 HGNC ENSG00000168259 tier1 - - 62 0 0.00 104 15 12.61 DRD5 0 genome.wustl.edu 37 4 9784946 9784946 + Silent SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 4 9784946 9784946 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known silent c.1293 p.E431 0.063 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 tier1 - - 54 0 0.00 34 6 15.00 ELFN2 0 genome.wustl.edu 37 22 37769432 37769432 + Silent SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 22 37769432 37769432 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known silent c.2143 p.L715 0.998 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 - - 57 0 0.00 27 6 17.65 ELL2 0 genome.wustl.edu 37 5 95249513 95249513 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 95249513 95249513 C T SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.443 p.R148Q 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 tier1 - - 93 0 0.00 83 16 16.16 ELTD1 0 genome.wustl.edu 37 1 79411960 79411960 + Silent SNP T T G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 79411960 79411960 T G SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.324 p.I108 0.994 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 tier1 - - 31 0 0.00 19 4 17.39 EMID1 0 genome.wustl.edu 37 22 29651307 29651307 + Silent SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 22 29651307 29651307 C A SNP EMID1 ENST00000404820 human ensembl 74_37 +1 novel silent c.1167 p.L389 1.000 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 tier1 - - 74 0 0.00 57 4 6.56 ENSG00000223579 0 genome.wustl.edu 37 22 20639062 20639062 + RNA SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 22 20639062 20639062 G A SNP ENSG00000223579 ENST00000577456 human ensembl 74_37 -1 known rna NULL NULL 0.970 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 tier1 - - 43 0 0.00 21 13 38.24 ENSG00000224363 0 genome.wustl.edu 37 1 144090788 144090788 + RNA SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 144090788 144090788 C A SNP ENSG00000224363 ENST00000441760 human ensembl 74_37 -1 known rna NULL NULL 0.850 - - - no_errors RP11-289H16.1 Clone_based_vega_gene ENSG00000224363 tier1 - - 31 0 0.00 28 4 12.50 ENSG00000258168 0 genome.wustl.edu 37 12 70932804 70932804 + RNA SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 12 70932804 70932804 C T SNP ENSG00000258168 ENST00000548687 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-588H23.3 Clone_based_vega_gene ENSG00000258168 tier1 - - 38 0 0.00 25 4 13.79 EPHB1 0 genome.wustl.edu 37 3 134881021 134881021 + Silent SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 134881021 134881021 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.1584 p.D528 0.674 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 40 0 0.00 35 8 18.60 EPHX2 0 genome.wustl.edu 37 8 27398991 27398991 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 8 27398991 27398991 G A SNP EPHX2 ENST00000521400 human ensembl 74_37 +1 known missense c.1381 p.G461S 0.998 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_HAD-SF_hydro_IA,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors EPHX2 HGNC ENSG00000120915 tier1 - - 67 0 0.00 76 6 7.32 FAT4 0 genome.wustl.edu 37 4 126408710 126408710 + Missense_Mutation SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 4 126408710 126408710 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13027 p.I4343V 0.837 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 20 0 0.00 20 2 9.09 FBN1 0 genome.wustl.edu 37 15 48779545 48779545 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 15 48779545 48779545 C A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.3427 p.G1143C 0.998 pfam_EGF-like_Ca-bd_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 - - 51 0 0.00 40 13 24.53 FIGLA 0 genome.wustl.edu 37 2 71014835 71014835 + Silent SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 2 71014835 71014835 C T SNP FIGLA ENST00000332372 human ensembl 74_37 -1 known silent c.330 p.A110 0.646 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FIGLA HGNC ENSG00000183733 tier1 - - 49 0 0.00 53 7 11.67 FRAS1 0 genome.wustl.edu 37 4 79345576 79345576 + Splice_Site SNP T T C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 4 79345576 79345576 T C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known splice_site c.4711+2 e35+2 0.998 - - - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 34 0 0.00 27 9 25.00 FZD4 0 genome.wustl.edu 37 11 86662616 86662616 + Silent SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 86662616 86662616 G A SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known silent c.1182 p.P394 0.006 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 tier1 - - 42 0 0.00 45 16 26.23 GLYCTK 0 genome.wustl.edu 37 3 52326740 52326740 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 52326740 52326740 G T SNP GLYCTK ENST00000436784 human ensembl 74_37 +1 known missense c.1170 p.E390D 0.416 NULL pfam_MOFRL - no_errors GLYCTK HGNC ENSG00000168237 81 0 0.00 52 3 5.45 GNRH1 0 genome.wustl.edu 37 8 25279131 25279131 + Silent SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 8 25279131 25279131 C T SNP GNRH1 ENST00000276414 human ensembl 74_37 -1 known silent c.195 p.T65 0.025 prints_Gonadoliberin_I_precursor pfam_GnRH,prints_Gonadoliberin_I_precursor - no_errors GNRH1 HGNC ENSG00000147437 tier1 - - 83 0 0.00 69 23 25.00 GRIPAP1 0 genome.wustl.edu 37 X 48854534 48854534 + RNA SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 X 48854534 48854534 C T SNP GRIPAP1 ENST00000480041 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors GRIPAP1 HGNC ENSG00000068400 tier1 - - 63 0 0.00 46 5 9.80 GRM5 0 genome.wustl.edu 37 11 88300675 88300675 + Missense_Mutation SNP T T A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 88300675 88300675 T A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2176 p.I726F 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 68 0 0.00 55 4 6.78 IGSF3 0 genome.wustl.edu 37 1 117127484 117127484 + Silent SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 117127484 117127484 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.2691 p.H897 1.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 58 0 0.00 46 9 16.36 INTS3 0 genome.wustl.edu 37 1 153746308 153746308 + RNA SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 153746308 153746308 C G SNP INTS3 ENST00000476843 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors INTS3 HGNC ENSG00000143624 tier1 - - 45 0 0.00 48 5 9.43 ITPRIP 0 genome.wustl.edu 37 10 106074541 106074541 + Silent SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 10 106074541 106074541 G A SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known silent c.1269 p.T423 0.914 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 tier1 - - 34 0 0.00 30 5 14.29 KCNMA1 0 genome.wustl.edu 37 10 78704644 78704644 + Missense_Mutation SNP T T G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 10 78704644 78704644 T G SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.2801 p.Q934P 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 82 0 0.00 60 9 13.04 KLHL26 0 genome.wustl.edu 37 19 18775251 18775251 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 18775251 18775251 C A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.264 p.F88L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 36 0 0.00 28 2 6.67 KRT23 0 genome.wustl.edu 37 17 39092782 39092782 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 39092782 39092782 G C SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.74 p.P25R 0.001 NULL pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 31 0 0.00 30 5 14.29 KRT86 0 genome.wustl.edu 37 12 52695793 52695793 + Silent SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 12 52695793 52695793 C G SNP KRT86 ENST00000293525 human ensembl 74_37 +1 known silent c.93 p.P31 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 HGNC ENSG00000170442 tier1 - - 52 0 0.00 46 8 14.81 LARS 0 genome.wustl.edu 37 5 145539938 145539938 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 145539938 145539938 G A SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.706 p.R236W 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 tier1 - - 52 0 0.00 55 4 6.78 LDHAL6CP 0 genome.wustl.edu 37 12 63397624 63397624 + RNA SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 12 63397624 63397624 G A SNP LDHAL6CP ENST00000550738 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LDHAL6CP HGNC ENSG00000250517 tier1 - - 77 0 0.00 63 24 27.59 LGALSL 0 genome.wustl.edu 37 2 64682498 64682498 + Missense_Mutation SNP A A T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 2 64682498 64682498 A T SNP LGALSL ENST00000238875 human ensembl 74_37 +1 known missense c.57 p.L19F 0.998 NULL pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALSL HGNC ENSG00000119862 tier1 - - 71 0 0.00 66 4 5.71 LIFR 0 genome.wustl.edu 37 5 38502838 38502838 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 38502838 38502838 G C SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.1501 p.P501A 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 115 0 0.00 87 6 6.45 LIMA1 0 genome.wustl.edu 37 12 50571452 50571452 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 12 50571452 50571452 C T SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.1678 p.E560K 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 tier1 - - 41 0 0.00 42 6 12.50 LOC101927550 0 genome.wustl.edu 37 7 98611622 98611622 + RNA SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 98611622 98611622 C G SNP LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 tier1 - - 20 0 0.00 29 6 17.14 LRFN2 0 genome.wustl.edu 37 6 40399901 40399901 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 6 40399901 40399901 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.952 p.P318S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,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 LRFN2 HGNC ENSG00000156564 tier1 - - 82 0 0.00 102 6 5.56 MCC 0 genome.wustl.edu 37 5 112389471 112389471 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 112389471 112389471 C T SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.1829 p.R610K 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 - - 42 0 0.00 34 5 12.82 MDGA2 0 genome.wustl.edu 37 14 47566228 47566228 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 14 47566228 47566228 G T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.1024 p.P342T 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 50 0 0.00 43 3 6.38 MFN1 0 genome.wustl.edu 37 3 179069813 179069813 + Missense_Mutation SNP T T A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 179069813 179069813 T A SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.238 p.F80I 0.999 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 79 0 0.00 60 10 14.29 MFN1 0 genome.wustl.edu 37 3 179069816 179069816 + Missense_Mutation SNP T T G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 179069816 179069816 T G SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.241 p.F81V 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 79 0 0.00 59 9 13.24 MFN1 0 genome.wustl.edu 37 3 179107819 179107819 + Silent SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 179107819 179107819 G T SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known silent c.2040 p.L680 1.000 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 29 0 0.00 51 10 16.39 MICAL3 0 genome.wustl.edu 37 22 18300174 18300174 + Missense_Mutation SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 22 18300174 18300174 C G SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.5253 p.K1751N 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 43 0 0.00 47 4 7.84 MMP9 0 genome.wustl.edu 37 20 44639644 44639644 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 20 44639644 44639644 G T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.604 p.A202S 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 63 0 0.00 48 3 5.88 MSH4 0 genome.wustl.edu 37 1 76333264 76333264 + Silent SNP T T C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 76333264 76333264 T C SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known silent c.1296 p.D432 0.995 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 48 0 0.00 55 5 8.33 MUC12 0 genome.wustl.edu 37 7 100612955 100612956 + In_Frame_Ins INS - - CTG TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 100612955 100612956 - CTG INS MUC12 ENST00000536621 human ensembl 74_37 +1 known in_frame_ins c.52_53 p.19in_frame_insA 0.000:0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 35 0 0.00 27 5 15.62 MUC15 0 genome.wustl.edu 37 11 26586795 26586795 + Missense_Mutation SNP T T A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 26586795 26586795 T A SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.692 p.Y231F 0.034 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 tier1 - - 131 0 0.00 115 18 13.53 MUC20 0 genome.wustl.edu 37 3 195453002 195453002 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 195453002 195453002 G T SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known missense c.1528 p.V510L 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 tier1 - - 122 0 0.00 137 9 6.16 MUC5AC 0 genome.wustl.edu 37 11 1216458 1216458 + RNA SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 1216458 1216458 G A SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 28 0 0.00 21 7 25.00 NAT9 0 genome.wustl.edu 37 17 72767990 72767990 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 72767990 72767990 G A SNP NAT9 ENST00000357814 human ensembl 74_37 -1 known missense c.497 p.T166M 0.980 superfamily_Acyl_CoA_acyltransferase pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 tier1 rs148689395 - 39 0 0.00 59 5 7.81 NCAPH2 0 genome.wustl.edu 37 22 50960627 50960627 + Missense_Mutation SNP T T C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 22 50960627 50960627 T C SNP NCAPH2 ENST00000299821 human ensembl 74_37 +1 known missense c.1180 p.W394R 1.000 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 44 0 0.00 38 3 7.32 NDUFB1 0 genome.wustl.edu 37 14 92587941 92587941 + RNA SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 14 92587941 92587941 G A SNP NDUFB1 ENST00000556555 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors NDUFB1 HGNC ENSG00000183648 tier1 - - 70 0 0.00 52 5 8.62 NINL 0 genome.wustl.edu 37 20 25472115 25472115 + Missense_Mutation SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 20 25472115 25472115 C G SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.1357 p.E453Q 0.992 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 - - 67 0 0.00 55 7 11.29 NLN 0 genome.wustl.edu 37 5 65084238 65084238 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 65084238 65084238 G T SNP NLN ENST00000380985 human ensembl 74_37 +1 known missense c.1252 p.V418F 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 53 0 0.00 55 4 6.78 NT5C3AP1 0 genome.wustl.edu 37 4 118497188 118497188 + RNA SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 4 118497188 118497188 A G SNP NT5C3AP1 ENST00000441170 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors NT5C3AP1 HGNC ENSG00000213492 tier1 - - 61 0 0.00 46 4 8.00 NUP93 0 genome.wustl.edu 37 16 56878425 56878425 + Missense_Mutation SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 16 56878425 56878425 A G SNP NUP93 ENST00000569842 human ensembl 74_37 +1 putative missense c.2482 p.S828G 1.000 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 tier1 - - 171 0 0.00 111 33 22.92 OCLN 0 genome.wustl.edu 37 5 68809798 68809798 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 68809798 68809798 C A SNP OCLN ENST00000355237 human ensembl 74_37 +1 known missense c.753 p.F251L 0.937 pfam_Marvel,pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 tier1 - - 48 0 0.00 53 6 10.17 OR2A4 0 genome.wustl.edu 37 6 132022418 132022418 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 6 132022418 132022418 C T SNP OR2A4 ENST00000315453 human ensembl 74_37 -1 known missense c.124 p.G42R 0.099 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A4 HGNC ENSG00000180658 tier1 - - 60 0 0.00 52 8 13.33 OR2AG2 0 genome.wustl.edu 37 11 6789525 6789525 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 6789525 6789525 G C SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known missense c.664 p.L222V 0.001 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 OR2AG2 HGNC ENSG00000188124 tier1 - - 82 0 0.00 79 12 13.19 OR51S1 0 genome.wustl.edu 37 11 4869959 4869959 + Nonsense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 4869959 4869959 G T SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known nonsense c.480 p.C160* 0.019 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 63 0 0.00 54 3 5.26 OR5AN1 0 genome.wustl.edu 37 11 59132150 59132150 + Nonsense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 59132150 59132150 C A SNP OR5AN1 ENST00000313940 human ensembl 74_37 +1 known nonsense c.219 p.C73* 0.846 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AN1 HGNC ENSG00000176495 tier1 - - 63 0 0.00 47 14 22.95 OR6K3 0 genome.wustl.edu 37 1 158687131 158687131 + Silent SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 158687131 158687131 A G SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known silent c.823 p.L275 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 tier1 - - 54 0 0.00 36 11 23.40 OR8K1 0 genome.wustl.edu 37 11 56113842 56113842 + Missense_Mutation SNP T T G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 56113842 56113842 T G SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.328 p.F110V 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 tier1 - - 37 0 0.00 35 5 12.50 PAX1 0 genome.wustl.edu 37 20 21687380 21687380 + Silent SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 20 21687380 21687380 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.591 p.R197 0.988 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 93 0 0.00 83 11 11.70 PDCD2L 0 genome.wustl.edu 37 19 34900093 34900093 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 34900093 34900093 G T SNP PDCD2L ENST00000246535 human ensembl 74_37 +1 known missense c.364 p.D122Y 0.912 NULL pfam_PDCD2_C - no_errors PDCD2L HGNC ENSG00000126249 31 0 0.00 40 3 6.98 PLCB4 0 genome.wustl.edu 37 20 9389320 9389320 + Silent SNP A A T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 20 9389320 9389320 A T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known silent c.1794 p.S598 0.118 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 tier1 - - 78 0 0.00 86 30 25.86 PLCE1 0 genome.wustl.edu 37 10 95892064 95892064 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 10 95892064 95892064 G T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.1340 p.R447L 0.006 superfamily_Ras_GEF_dom 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 52 0 0.00 48 3 5.88 POLR2A 0 genome.wustl.edu 37 17 7415274 7415274 + Nonsense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 7415274 7415274 C T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known nonsense c.4246 p.R1416* 0.992 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 tier1 - - 92 0 0.00 57 14 19.72 POLR3B 0 genome.wustl.edu 37 12 106831541 106831541 + Nonsense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 12 106831541 106831541 G T SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known nonsense c.1939 p.E647* 1.000 pfam_RNA_pol_Rpb2_5 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 26 0 0.00 27 2 6.90 PPIL4 0 genome.wustl.edu 37 6 149847891 149847891 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 6 149847891 149847891 C A SNP PPIL4 ENST00000253329 human ensembl 74_37 -1 known missense c.700 p.D234Y 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 30 0 0.00 45 3 6.25 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 tier1 23 0 0.00 10 4 28.57 PTPRT 0 genome.wustl.edu 37 20 41385155 41385155 + Missense_Mutation SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 20 41385155 41385155 A G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.806 p.I269T 1.000 pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 64 0 0.00 70 7 9.09 R3HDM1 0 genome.wustl.edu 37 2 136393551 136393551 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 2 136393551 136393551 G C SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known missense c.790 p.D264H 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 tier1 - - 49 0 0.00 55 4 6.78 RNF17 0 genome.wustl.edu 37 13 25442743 25442743 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 13 25442743 25442743 G C SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.4167 p.L1389F 0.999 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 77 0 0.00 61 15 19.74 RNF187 0 genome.wustl.edu 37 1 228680819 228680819 + Silent SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 228680819 228680819 G T SNP RNF187 ENST00000305943 human ensembl 74_37 +1 known silent c.222 p.V74 0.007 NULL NULL - no_errors RNF187 HGNC ENSG00000168159 55 0 0.00 45 3 6.25 RNPC3 0 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 74_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 18 0 0.00 21 5 19.23 RPL26L1 0 genome.wustl.edu 37 5 172396449 172396449 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 172396449 172396449 C T SNP RPL26L1 ENST00000265100 human ensembl 74_37 +1 known missense c.343 p.R115W 0.996 superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L26/L24P_euk/arc pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26L1 HGNC ENSG00000037241 tier1 - - 87 0 0.00 73 10 11.90 RTCB 0 genome.wustl.edu 37 22 32788229 32788229 + Nonsense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 22 32788229 32788229 C A SNP RTCB ENST00000216038 human ensembl 74_37 -1 known nonsense c.1408 p.E470* 1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 45 0 0.00 27 2 6.90 RUNX2 0 genome.wustl.edu 37 6 45399659 45399659 + Missense_Mutation SNP T T A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 6 45399659 45399659 T A SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.687 p.D229E 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 - - 104 0 0.00 98 12 10.91 SCG2 0 genome.wustl.edu 37 2 224463860 224463860 + Silent SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 2 224463860 224463860 G C SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known silent c.141 p.V47 0.381 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 tier1 - - 37 0 0.00 32 6 15.79 SCN2A 0 genome.wustl.edu 37 2 166167085 166167085 + Missense_Mutation SNP A A T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 2 166167085 166167085 A T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.950 p.D317V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 57 0 0.00 42 3 6.67 SCN5A 0 genome.wustl.edu 37 3 38603969 38603969 + Missense_Mutation SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 38603969 38603969 C G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3900 p.K1300N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 62 0 0.00 51 7 12.07 SERINC3 0 genome.wustl.edu 37 20 43142627 43142627 + Missense_Mutation SNP T T G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 20 43142627 43142627 T G SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known missense c.94 p.S32R 0.002 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 tier1 - - 58 0 0.00 68 6 8.11 SLC1A3 0 genome.wustl.edu 37 5 36686224 36686224 + Silent SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 36686224 36686224 G T SNP SLC1A3 ENST00000265113 human ensembl 74_37 +1 known silent c.1482 p.V494 0.001 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 tier1 - - 46 0 0.00 51 4 7.27 SLC44A4 0 genome.wustl.edu 37 6 31832357 31832357 + RNA DEL A A - TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 6 31832357 31832357 A - DEL SLC44A4 ENST00000487680 human ensembl 74_37 -1 putative rna NULL NULL 0.055 - - - no_errors SLC44A4 HGNC ENSG00000204385 tier1 14 0 0.00 30 5 14.29 SLC4A11 0 genome.wustl.edu 37 20 3208438 3208438 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 20 3208438 3208438 G A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.2752 p.P918S 0.032 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 tier1 - - 48 0 0.00 57 20 25.97 SLC6A4 0 genome.wustl.edu 37 17 28548752 28548752 + Silent SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 28548752 28548752 A G SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known silent c.225 p.H75 0.119 NULL pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 tier1 - - 123 0 0.00 110 41 27.15 SLITRK1 0 genome.wustl.edu 37 13 84454666 84454666 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 13 84454666 84454666 G T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.977 p.A326E 0.842 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 33 0 0.00 27 2 6.90 SNTA1 0 genome.wustl.edu 37 20 32005636 32005636 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 20 32005636 32005636 C T SNP SNTA1 ENST00000217381 human ensembl 74_37 -1 known missense c.590 p.R197Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 tier1 - - 33 0 0.00 23 34 59.65 SPDYE3 0 genome.wustl.edu 37 7 99917283 99917283 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 99917283 99917283 G A SNP SPDYE3 ENST00000332397 human ensembl 74_37 +1 known missense c.1442 p.R481H 0.000 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 tier1 - - 263 0 0.00 173 97 35.66 SPTAN1 0 genome.wustl.edu 37 9 131337616 131337616 + Missense_Mutation SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 9 131337616 131337616 C G SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.643 p.L215V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 56 0 0.00 59 8 11.94 SPTB 0 genome.wustl.edu 37 14 65230544 65230544 + RNA SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 14 65230544 65230544 G T SNP SPTB ENST00000342835 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPTB HGNC ENSG00000070182 tier1 - - 118 0 0.00 71 7 8.97 ST6GAL1 0 genome.wustl.edu 37 3 186769080 186769080 + Silent SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 186769080 186769080 C A SNP ST6GAL1 ENST00000169298 human ensembl 74_37 +1 known silent c.651 p.A217 0.423 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 tier1 - - 83 0 0.00 72 6 7.69 SYNE1 0 genome.wustl.edu 37 6 152472809 152472809 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 6 152472809 152472809 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24329 p.R8110H 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 34 0 0.00 34 4 10.53 SYT17 0 genome.wustl.edu 37 16 19234436 19234436 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 16 19234436 19234436 G C SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known missense c.1021 p.D341H 0.996 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 tier1 - - 114 0 0.00 80 17 17.53 TAF1A 0 genome.wustl.edu 37 1 222732053 222732054 + Frame_Shift_Ins INS - - TTAA TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 222732053 222732054 - TTAA INS TAF1A ENST00000350027 human ensembl 74_37 -1 known frame_shift_ins c.1302_1301 p.K434fs 0.980:0.984 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 tier1 35 0 0.00 29 2 6.45 TCF7 0 genome.wustl.edu 37 5 133473773 133473773 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 5 133473773 133473773 C T SNP TCF7 ENST00000517741 human ensembl 74_37 +1 known missense c.173 p.T58M 0.092 NULL NULL - no_errors TCF7 HGNC ENSG00000081059 tier1 - - 55 0 0.00 51 6 10.53 TECPR1 0 genome.wustl.edu 37 7 97847352 97847352 + Missense_Mutation SNP T T C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 97847352 97847352 T C SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.3166 p.N1056D 0.998 pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 30 0 0.00 20 2 9.09 TM4SF20 0 genome.wustl.edu 37 2 228243873 228243873 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 2 228243873 228243873 C A SNP TM4SF20 ENST00000304568 human ensembl 74_37 -1 known missense c.112 p.D38Y 0.003 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF20 HGNC ENSG00000168955 31 0 0.00 32 3 8.57 TMC6 0 genome.wustl.edu 37 17 76120758 76120758 + Silent SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 76120758 76120758 G C SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known silent c.738 p.L246 1.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 tier1 - - 42 0 0.00 38 5 11.63 TMEM106C 0 genome.wustl.edu 37 12 48361947 48361947 + Missense_Mutation SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 12 48361947 48361947 A G SNP TMEM106C ENST00000429772 human ensembl 74_37 +1 known missense c.688 p.M230V 0.013 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106C HGNC ENSG00000134291 tier1 - - 20 0 0.00 24 6 20.00 TMPRSS4 0 genome.wustl.edu 37 11 117988062 117988062 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 117988062 117988062 C T SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known missense c.1195 p.H399Y 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 tier1 - - 55 0 0.00 36 22 37.93 TP53TG1 0 genome.wustl.edu 37 7 86974747 86974747 + RNA SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 86974747 86974747 G T SNP TP53TG1 ENST00000359941 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TP53TG1 HGNC ENSG00000182165 40 0 0.00 30 3 9.09 TP53TG1 0 genome.wustl.edu 37 7 86974782 86974782 + RNA SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 86974782 86974782 G A SNP TP53TG1 ENST00000359941 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TP53TG1 HGNC ENSG00000182165 30 0 0.00 24 3 11.11 TRAF1 0 genome.wustl.edu 37 9 123667461 123667461 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 9 123667461 123667461 C T SNP TRAF1 ENST00000373887 human ensembl 74_37 -1 known missense c.1088 p.R363Q 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 tier1 - - 39 0 0.00 24 5 17.24 TRANK1 0 genome.wustl.edu 37 3 36931320 36931320 + Nonsense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 36931320 36931320 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known nonsense c.775 p.R259* 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 51 0 0.00 35 11 23.91 TRIM11 0 genome.wustl.edu 37 1 228584497 228584497 + Missense_Mutation SNP T T A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 228584497 228584497 T A SNP TRIM11 ENST00000366699 human ensembl 74_37 -1 known missense c.1010 p.H337L 0.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM11 HGNC ENSG00000154370 tier1 - - 68 0 0.00 54 4 6.78 TRIM4 0 genome.wustl.edu 37 7 99506320 99506320 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 7 99506320 99506320 G A SNP TRIM4 ENST00000355947 human ensembl 74_37 -1 known missense c.683 p.T228M 0.052 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 tier1 - - 76 0 0.00 83 8 8.79 TRIM46 0 genome.wustl.edu 37 1 155150650 155150650 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 1 155150650 155150650 G T SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.1082 p.G361V 0.999 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 54 0 0.00 49 3 5.77 TRPM5 0 genome.wustl.edu 37 11 2426270 2426270 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 11 2426270 2426270 G C SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.3401 p.S1134C 0.005 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 123 0 0.00 116 11 8.66 UBR2 0 genome.wustl.edu 37 6 42657384 42657384 + Missense_Mutation SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 6 42657384 42657384 A G SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.5102 p.Y1701C 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 tier1 - - 66 0 0.00 80 5 5.88 VCPIP1 0 genome.wustl.edu 37 8 67576874 67576874 + Missense_Mutation SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 8 67576874 67576874 C G SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.2320 p.E774Q 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 71 0 0.00 48 3 5.88 VEZF1 0 genome.wustl.edu 37 17 56056642 56056642 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 56056642 56056642 G T SNP VEZF1 ENST00000581208 human ensembl 74_37 -1 known missense c.1009 p.Q337K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 54 0 0.00 76 7 8.43 WDR52 0 genome.wustl.edu 37 3 113125833 113125833 + Nonsense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 3 113125833 113125833 G A SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known nonsense c.946 p.R316* 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 - - 76 0 0.00 77 9 10.47 WDR81 0 genome.wustl.edu 37 17 1631464 1631464 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 1631464 1631464 G T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.3211 p.V1071F 0.990 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 42 0 0.00 34 3 8.11 ZAP70 0 genome.wustl.edu 37 2 98349436 98349436 + Silent SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 2 98349436 98349436 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.654 p.A218 0.017 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 rs202191985 - 74 0 0.00 78 22 21.78 ZHX1 0 genome.wustl.edu 37 8 124266852 124266852 + Silent SNP T T A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 8 124266852 124266852 T A SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known silent c.1335 p.A445 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 tier1 - - 41 0 0.00 36 15 29.41 ZNF174 0 genome.wustl.edu 37 16 3452111 3452111 + Frame_Shift_Del DEL A A - TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 16 3452111 3452111 A - DEL ZNF174 ENST00000268655 human ensembl 74_37 +1 known frame_shift_del c.107 p.N38fs 0.000 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 tier1 59 0 0.00 38 2 5.00 ZNF20 0 genome.wustl.edu 37 19 12243540 12243540 + Silent SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 12243540 12243540 G A SNP ZNF20 ENST00000334213 human ensembl 74_37 -1 known silent c.1461 p.A487 0.013 smart_Znf_C2H2-like,pfscan_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 ZNF20 HGNC ENSG00000132010 tier1 - - 79 0 0.00 46 8 14.81 ZNF207 0 genome.wustl.edu 37 17 30696347 30696347 + Missense_Mutation SNP C C T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 17 30696347 30696347 C T SNP ZNF207 ENST00000394670 human ensembl 74_37 +1 known missense c.1198 p.R400C 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 tier1 - - 50 0 0.00 50 12 19.35 ZNF208 0 genome.wustl.edu 37 19 22154882 22154882 + Missense_Mutation SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 22154882 22154882 A G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2954 p.F985S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 43 0 0.00 30 2 6.25 ZNF485 0 genome.wustl.edu 37 10 44112612 44112612 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 10 44112612 44112612 G A SNP ZNF485 ENST00000361807 human ensembl 74_37 +1 known missense c.1121 p.R374K 0.999 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 ZNF485 HGNC ENSG00000198298 tier1 - - 32 0 0.00 34 6 15.00 ZNF613 0 genome.wustl.edu 37 19 52448537 52448537 + Missense_Mutation SNP C C A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 52448537 52448537 C A SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.1401 p.H467Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 53 0 0.00 36 2 5.26 ZNF704 0 genome.wustl.edu 37 8 81550825 81550825 + RNA DEL A A - TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 8 81550825 81550825 A - DEL ZNF704 ENST00000517379 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ZNF704 HGNC ENSG00000164684 tier1 15 0 0.00 19 3 13.64 ZNF808 0 genome.wustl.edu 37 19 53056935 53056935 + Missense_Mutation SNP G G C TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52 ecbcc636-eb77-4e8b-8759-082bec11dc34 19 53056935 53056935 G C SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.766 p.D256H 0.952 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 ZNF808 HGNC ENSG00000198482 tier1 - - 127 0 0.00 102 8 7.27