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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCC6 0 genome.wustl.edu 37 16 16282792 16282792 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 16 16282792 16282792 C T SNP ABCC6 ENST00000205557 human ensembl 69_37n -1 known missense c.1675 p.E559K 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 53 0 0.00 25 5 16.67 - - - AR 0 genome.wustl.edu 37 X 66766554 66766554 + Silent SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd X 66766554 66766554 C T SNP AR ENST00000374690 human ensembl 69_37n +1 known silent c.1566 p.S522 0.990 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 36 0 0.00 9 4 30.77 - - - ARAP2 0 genome.wustl.edu 37 4 36115810 36115810 + Missense_Mutation SNP T T C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 4 36115810 36115810 T C SNP ARAP2 ENST00000303965 human ensembl 69_37n -1 known missense c.4138 p.I1380V 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 106 0 0.00 57 14 19.72 - - - ARHGAP21 0 genome.wustl.edu 37 10 24896748 24896748 + Missense_Mutation SNP G G T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 10 24896748 24896748 G T SNP ARHGAP21 ENST00000396432 human ensembl 69_37n -1 known missense c.2507 p.P836H 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 74 0 0.00 23 15 39.47 - - - ARL15 0 genome.wustl.edu 37 5 53182436 53182436 + Silent SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 5 53182436 53182436 C T SNP ARL15 ENST00000504924 human ensembl 69_37n -1 known silent c.570 p.L190 0.996 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL15 HGNC ENSG00000185305 112 0 0.00 43 14 24.56 - - - ATP10A 0 genome.wustl.edu 37 15 25953373 25953373 + Missense_Mutation SNP C C G TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 15 25953373 25953373 C G SNP ATP10A ENST00000356865 human ensembl 69_37n -1 known missense c.2419 p.G807R 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 72 0 0.00 24 8 25.00 - - - ATP2B2 0 genome.wustl.edu 37 3 10370571 10370571 + Missense_Mutation SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 3 10370571 10370571 G A SNP ATP2B2 ENST00000352432 human ensembl 69_37n -1 known missense c.3659 p.T1220M 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 91 0 0.00 90 13 12.62 - - - CDK5RAP1 0 genome.wustl.edu 37 20 31984736 31984736 + Missense_Mutation SNP C C A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 20 31984736 31984736 C A SNP CDK5RAP1 ENST00000357886 human ensembl 69_37n -1 known missense c.135 p.E45D 0.128 NULL pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 38 0 0.00 17 9 34.62 - - - CDX2 0 genome.wustl.edu 37 13 28537414 28537414 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 13 28537414 28537414 C T SNP CDX2 ENST00000548877 human ensembl 69_37n -1 putative missense c.308 p.R103H 0.882 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CDX2 HGNC ENSG00000165556 95 0 0.00 56 13 18.57 - - - CEP128 0 genome.wustl.edu 37 14 81329162 81329162 + Missense_Mutation SNP T T C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 14 81329162 81329162 T C SNP CEP128 ENST00000281129 human ensembl 69_37n -1 known missense c.701 p.E234G 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 104 0 0.00 57 9 13.64 - - - CHIC2 0 genome.wustl.edu 37 4 54915207 54915207 + Frame_Shift_Del DEL T T - TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 4 54915207 54915207 T - DEL CHIC2 ENST00000263921 human ensembl 69_37n -1 known frame_shift_del c.245 p.N82fs 1.000 pfam_Golgin_A_7/ERF4 pfam_Golgin_A_7/ERF4 - no_errors CHIC2 HGNC ENSG00000109220 46 0 0.00 27 8 22.86 - - - COL9A1 0 genome.wustl.edu 37 6 71004156 71004156 + Missense_Mutation SNP G G C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 6 71004156 71004156 G C SNP COL9A1 ENST00000357250 human ensembl 69_37n -1 known missense c.410 p.S137C 0.169 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 46 0 0.00 24 11 31.43 - - - CTBP2 0 genome.wustl.edu 37 10 126683158 126683158 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 10 126683158 126683158 G A SNP CTBP2 ENST00000309035 human ensembl 69_37n -1 known silent c.2280 p.S760 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 71 0 0.00 156 19 10.86 - - - DPEP3 0 genome.wustl.edu 37 16 68009816 68009816 + Missense_Mutation SNP G G T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 16 68009816 68009816 G T SNP DPEP3 ENST00000268793 human ensembl 69_37n -1 known missense c.1394 p.P465H 0.030 NULL pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 92 0 0.00 55 9 14.06 - - - EIF3D 0 genome.wustl.edu 37 22 36907704 36907704 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 22 36907704 36907704 G A SNP EIF3D ENST00000216190 human ensembl 69_37n -1 known silent c.1479 p.C493 1.000 pfam_EIF-3_zeta,pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC ENSG00000100353 78 0 0.00 63 10 13.70 - - - ENSG00000262323 0 genome.wustl.edu 37 16 29706325 29706325 + Missense_Mutation SNP C C G TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 16 29706325 29706325 C G SNP ENSG00000262323 ENST00000449759 human ensembl 69_37n +1 putative missense c.470 p.P157R 0.000 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region AC009133.19 Clone_based_vega_gene ENSG00000262323 28 0 0.00 30 5 14.29 - - - FAM123B 0 genome.wustl.edu 37 X 63410049 63410049 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd X 63410049 63410049 C T SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.3118 p.A1040T 0.480 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 46 0 0.00 20 9 31.03 - - - FASN 0 genome.wustl.edu 37 17 80047261 80047261 + Splice_Site SNP C C A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 17 80047261 80047261 C A SNP FASN ENST00000306749 human ensembl 69_37n -1 known splice_site c.1966-1 e12-1 1.000 - - - no_errors FASN HGNC ENSG00000169710 26 0 0.00 16 4 20.00 - - - FBXL8 0 genome.wustl.edu 37 16 67196943 67196943 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 16 67196943 67196943 G A SNP FBXL8 ENST00000258200 human ensembl 69_37n +1 known silent c.345 p.P115 0.974 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL8 HGNC ENSG00000135722 26 0 0.00 5 6 54.55 - - - GAPVD1 0 genome.wustl.edu 37 9 128064405 128064405 + Missense_Mutation SNP T T C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 9 128064405 128064405 T C SNP GAPVD1 ENST00000394105 human ensembl 69_37n +1 known missense c.329 p.I110T 1.000 superfamily_Rho_GTPase_activation_prot pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 59 0 0.00 77 11 12.50 - - - GLA 0 genome.wustl.edu 37 X 100662776 100662776 + Missense_Mutation SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd X 100662776 100662776 G A SNP GLA ENST00000218516 human ensembl 69_37n -1 known missense c.116 p.T39M 0.956 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 65 0 0.00 46 8 14.81 - - - GLI2 0 genome.wustl.edu 37 2 121708927 121708927 + Silent SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 2 121708927 121708927 C T SNP GLI2 ENST00000361492 human ensembl 69_37n +1 known silent c.363 p.Y121 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 34 0 0.00 14 14 50.00 - - - GLI3 0 genome.wustl.edu 37 7 42005234 42005234 + Missense_Mutation SNP A A C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 7 42005234 42005234 A C SNP GLI3 ENST00000395925 human ensembl 69_37n -1 known missense c.3437 p.L1146R 0.975 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 36 0 0.00 15 8 34.78 - - - GPRASP1 0 genome.wustl.edu 37 X 101912271 101912271 + Missense_Mutation SNP T T G TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd X 101912271 101912271 T G SNP GPRASP1 ENST00000361600 human ensembl 69_37n +1 known missense c.3430 p.C1144G 0.812 superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 75 0 0.00 38 16 29.63 - - - GRHL3 0 genome.wustl.edu 37 1 24668645 24668645 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 1 24668645 24668645 C T SNP GRHL3 ENST00000350501 human ensembl 69_37n +1 known missense c.1088 p.S363L 1.000 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 66 0 0.00 19 12 38.71 - - - HSPG2 0 genome.wustl.edu 37 1 22174305 22174305 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 1 22174305 22174305 G A SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known silent c.7902 p.I2634 0.991 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 36 0 0.00 15 9 37.50 - - - IGSF1 0 genome.wustl.edu 37 X 130411977 130411977 + Missense_Mutation SNP G G T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd X 130411977 130411977 G T SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known missense c.2188 p.Q730K 1.000 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 117 0 0.00 71 32 31.07 - - - IQCG 0 genome.wustl.edu 37 3 197659062 197659062 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 3 197659062 197659062 G A SNP IQCG ENST00000265239 human ensembl 69_37n -1 known silent c.627 p.F209 0.999 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 101 0 0.00 59 127 68.28 - - - IRAK1 0 genome.wustl.edu 37 X 153282465 153282465 + Missense_Mutation SNP A A T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd X 153282465 153282465 A T SNP IRAK1 ENST00000369973 human ensembl 69_37n -1 known missense c.926 p.V309E 0.998 NULL pfam_Death,superfamily_DEATH-like,superfamily_Kinase-like_dom - no_errors IRAK1 HGNC ENSG00000184216 97 0 0.00 65 12 15.58 - - - KCNH1 0 genome.wustl.edu 37 1 210948691 210948691 + Missense_Mutation SNP C C A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 1 210948691 210948691 C A SNP KCNH1 ENST00000271751 human ensembl 69_37n -1 known missense c.2111 p.R704M 1.000 prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 90 0 0.00 60 20 25.00 - - - KLHL36 0 genome.wustl.edu 37 16 84690716 84690716 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 16 84690716 84690716 G A SNP KLHL36 ENST00000564996 human ensembl 69_37n +1 known silent c.303 p.V101 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 KLHL36 HGNC ENSG00000135686 62 0 0.00 28 10 26.32 - - - LDB1 0 genome.wustl.edu 37 10 103867910 103867910 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 10 103867910 103867910 G A SNP LDB1 ENST00000425280 human ensembl 69_37n -1 known silent c.1176 p.S392 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 92 0 0.00 53 26 32.91 - - - MLL2 0 genome.wustl.edu 37 12 49426774 49426774 + Missense_Mutation SNP T T A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 12 49426774 49426774 T A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.11714 p.Q3905L 0.688 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 45 0 0.00 46 7 13.21 - - - MYH14 0 genome.wustl.edu 37 19 50753006 50753006 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 19 50753006 50753006 C T SNP MYH14 ENST00000262269 human ensembl 69_37n +1 known missense c.1582 p.R528C 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 108 0 0.00 112 24 17.65 - - - N4BP2 0 genome.wustl.edu 37 4 40144366 40144366 + Missense_Mutation SNP A A T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 4 40144366 40144366 A T SNP N4BP2 ENST00000261435 human ensembl 69_37n +1 known missense c.4859 p.D1620V 1.000 pfam_DUF1771 pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 58 0 0.00 35 12 25.53 - - - NADSYN1 0 genome.wustl.edu 37 11 71185527 71185527 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 11 71185527 71185527 C T SNP NADSYN1 ENST00000525200 human ensembl 69_37n +1 known missense c.653 p.T218M 0.994 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NADSYN1 HGNC ENSG00000172890 88 0 0.00 78 12 13.33 - - - NEFH 0 genome.wustl.edu 37 22 29885829 29885829 + Missense_Mutation SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 22 29885829 29885829 G A SNP NEFH ENST00000310624 human ensembl 69_37n +1 known missense c.2200 p.E734K 0.848 NULL pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 79 0 0.00 65 10 13.33 - - - NRCAM 0 genome.wustl.edu 37 7 107820770 107820770 + Silent SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 7 107820770 107820770 C T SNP NRCAM ENST00000379028 human ensembl 69_37n -1 known silent c.2748 p.P916 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 59 0 0.00 54 11 16.92 - - - NXPH4 0 genome.wustl.edu 37 12 57619524 57619524 + Silent SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 12 57619524 57619524 C T SNP NXPH4 ENST00000349394 human ensembl 69_37n +1 known silent c.921 p.F307 0.669 pirsf_Neurexophilin pirsf_Neurexophilin - no_errors NXPH4 HGNC ENSG00000182379 14 0 0.00 12 4 25.00 - - - OR11L1 0 genome.wustl.edu 37 1 248004332 248004332 + Missense_Mutation SNP G G C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 1 248004332 248004332 G C SNP OR11L1 ENST00000355784 human ensembl 69_37n -1 known missense c.867 p.I289M 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11L1 HGNC ENSG00000197591 48 0 0.00 65 23 26.14 - - - OR11L1 0 genome.wustl.edu 37 1 248004656 248004656 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 1 248004656 248004656 G A SNP OR11L1 ENST00000355784 human ensembl 69_37n -1 known silent c.543 p.L181 0.792 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11L1 HGNC ENSG00000197591 36 0 0.00 30 7 18.92 - - - OR11L1 0 genome.wustl.edu 37 1 248004829 248004829 + Missense_Mutation SNP G G C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 1 248004829 248004829 G C SNP OR11L1 ENST00000355784 human ensembl 69_37n -1 known missense c.370 p.L124V 0.416 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11L1 HGNC ENSG00000197591 21 0 0.00 21 9 30.00 - - - OR2L5 0 genome.wustl.edu 37 1 248185954 248185954 + Missense_Mutation SNP G G T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 1 248185954 248185954 G T SNP OR2L5 ENST00000355281 human ensembl 69_37n +1 known missense c.705 p.K235N 0.967 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 74 0 0.00 115 15 11.54 - - - OXSM 0 genome.wustl.edu 37 3 25833460 25833460 + Missense_Mutation SNP C C A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 3 25833460 25833460 C A SNP OXSM ENST00000280701 human ensembl 69_37n +1 known missense c.949 p.P317T 1.000 pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 20 0 0.00 18 10 35.71 - - - PALB2 0 genome.wustl.edu 37 16 23614905 23614905 + Nonsense_Mutation SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 16 23614905 23614905 G A SNP PALB2 ENST00000261584 human ensembl 69_37n -1 known nonsense c.3436 p.Q1146* 0.980 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 50 0 0.00 25 6 19.35 - - - PHYHIP 0 genome.wustl.edu 37 8 22084434 22084434 + Silent SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 8 22084434 22084434 C T SNP PHYHIP ENST00000454243 human ensembl 69_37n -1 known silent c.270 p.T90 0.764 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 47 0 0.00 33 4 10.81 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 64 0 0.00 41 50 54.95 - - - PMEL 0 genome.wustl.edu 37 12 56351845 56351845 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 12 56351845 56351845 C T SNP PMEL ENST00000360714 human ensembl 69_37n -1 known missense c.493 p.G165S 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 54 0 0.00 22 7 24.14 - - - PNPT1 0 genome.wustl.edu 37 2 55870522 55870522 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 2 55870522 55870522 C T SNP PNPT1 ENST00000415374 human ensembl 69_37n -1 known missense c.1945 p.V649I 0.541 pfam_KH_dom_type_1,smart_KH_dom,pirsf_PNPase,pfscan_KH_dom_type_1,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 110 0 0.00 94 41 30.37 - - - RBM26 0 genome.wustl.edu 37 13 79896574 79896574 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 13 79896574 79896574 G A SNP RBM26 ENST00000327303 human ensembl 69_37n -1 known silent c.2844 p.F948 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 110 0 0.00 63 22 25.88 - - - RNF213 0 genome.wustl.edu 37 17 78358925 78358925 + Silent SNP A A G TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 17 78358925 78358925 A G SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known silent c.14409 p.Q4803 0.002 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 60 0 0.00 34 15 30.61 - - - SLC17A5 0 genome.wustl.edu 37 6 74346398 74346398 + Missense_Mutation SNP G G C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 6 74346398 74346398 G C SNP SLC17A5 ENST00000355773 human ensembl 69_37n -1 known missense c.646 p.L216V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 34 0 0.00 13 4 23.53 - - - SLC27A5 0 genome.wustl.edu 37 19 59021339 59021339 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 19 59021339 59021339 C T SNP SLC27A5 ENST00000263093 human ensembl 69_37n -1 known missense c.932 p.R311Q 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 56 0 0.00 35 4 10.26 - - - ST6GALNAC6 0 genome.wustl.edu 37 9 130656839 130656839 + Nonsense_Mutation SNP G G C TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 9 130656839 130656839 G C SNP ST6GALNAC6 ENST00000542456 human ensembl 69_37n -1 known nonsense c.56 p.S19* 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 46 0 0.00 25 11 30.56 - - - TFDP1 0 genome.wustl.edu 37 13 114292199 114292199 + Missense_Mutation SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 13 114292199 114292199 G A SNP TFDP1 ENST00000375370 human ensembl 69_37n +1 known missense c.1073 p.R358K 1.000 pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP1 HGNC ENSG00000198176 77 0 0.00 48 7 12.73 - - - TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 61 0 0.00 22 20 47.62 - - - TTN 0 genome.wustl.edu 37 2 179436920 179436920 + Nonsense_Mutation SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 2 179436920 179436920 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known nonsense c.66235 p.R22079* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 96 0 0.00 54 12 18.18 - - - XPO1 0 genome.wustl.edu 37 2 61719472 61719472 + Missense_Mutation SNP C C T TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 2 61719472 61719472 C T SNP XPO1 ENST00000401558 human ensembl 69_37n -1 known missense c.1711 p.E571K 1.000 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 60 0 0.00 36 18 33.33 - - - ZC3H12C 0 genome.wustl.edu 37 11 110030002 110030002 + Nonsense_Mutation SNP T T A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 128b9209-2201-428c-87e7-65690bfe3875 b62e3943-6354-4309-881b-3f1f10ecb1fd 11 110030002 110030002 T A SNP ZC3H12C ENST00000278590 human ensembl 69_37n +1 known nonsense c.935 p.L312* 0.700 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 41 0 0.00 30 5 14.29 - - -