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 ABCD4 0 genome.wustl.edu 37 14 74758989 74758989 + Splice_Site SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 14 74758989 74758989 C T SNP ABCD4 ENST00000356924 human ensembl 69_37n -1 known splice_site c.1118+1 e11+1 1.000 - - - no_errors ABCD4 HGNC ENSG00000119688 63 0 0.00 29 10 25.64 - - - APOBEC3D 0 genome.wustl.edu 37 22 39418878 39418878 + Silent SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 22 39418878 39418878 C T SNP APOBEC3D ENST00000216099 human ensembl 69_37n +1 known silent c.69 p.N23 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 176 0 0.00 77 43 35.83 - - - ATCAY 0 genome.wustl.edu 37 19 3907867 3907867 + Missense_Mutation SNP G G A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 19 3907867 3907867 G A SNP ATCAY ENST00000301260 human ensembl 69_37n +1 known missense c.494 p.R165H 1.000 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 42 0 0.00 20 11 35.48 - - - BSN 0 genome.wustl.edu 37 3 49689363 49689363 + Missense_Mutation SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 3 49689363 49689363 C T SNP BSN ENST00000296452 human ensembl 69_37n +1 known missense c.2374 p.R792C 0.379 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 53 0 0.00 14 7 33.33 - - - CCDC144A 0 genome.wustl.edu 37 17 16638041 16638041 + Missense_Mutation SNP A A T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 17 16638041 16638041 A T SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.2456 p.H819L 0.170 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 57 0 0.00 35 11 23.91 - - - CLCN7 0 genome.wustl.edu 37 16 1497552 1497552 + Missense_Mutation SNP G G T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 16 1497552 1497552 G T SNP CLCN7 ENST00000565596 human ensembl 69_37n -1 putative missense c.209 p.P70Q 0.007 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CLCN7 HGNC ENSG00000103249 15 0 0.00 9 4 30.77 - - - COL1A2 0 genome.wustl.edu 37 7 94041434 94041434 + Splice_Site SNP G G A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 7 94041434 94041434 G A SNP COL1A2 ENST00000297268 human ensembl 69_37n +1 known splice_site c.1404+1 e24+1 1.000 - - - no_errors COL1A2 HGNC ENSG00000164692 210 0 0.00 136 22 13.92 - - - CSTF1 0 genome.wustl.edu 37 20 54974292 54974292 + Silent SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 20 54974292 54974292 C T SNP CSTF1 ENST00000217109 human ensembl 69_37n +1 known silent c.915 p.D305 0.159 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 182 1 0.55 134 37 21.64 - - - DMD 0 genome.wustl.edu 37 X 31792301 31792301 + Nonsense_Mutation SNP G G A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd X 31792301 31792301 G A SNP DMD ENST00000357033 human ensembl 69_37n -1 known nonsense c.7318 p.Q2440* 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 69 0 0.00 58 9 13.43 - - - DNAJC13 0 genome.wustl.edu 37 3 132213003 132213004 + In_Frame_Ins INS - - CTT TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 3 132213003 132213004 - CTT INS DNAJC13 ENST00000260818 human ensembl 69_37n +1 known in_frame_ins c.3841_3842 p.D1281in_frame_insAY 1.000:1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 90 0 0.00 61 28 31.46 - - - ENAH 0 genome.wustl.edu 37 1 225702347 225702347 + Missense_Mutation SNP G G A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 1 225702347 225702347 G A SNP ENAH ENST00000366844 human ensembl 69_37n -1 known missense c.1169 p.T390I 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 35 0 0.00 25 25 50.00 - - - ERBB2 0 genome.wustl.edu 37 17 37880261 37880261 + Missense_Mutation SNP G G T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 17 37880261 37880261 G T SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2305 p.D769Y 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 151 1 0.66 69 71 50.71 - - - FAM63A 0 genome.wustl.edu 37 1 150969810 150969810 + Missense_Mutation SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 1 150969810 150969810 C T SNP FAM63A ENST00000361738 human ensembl 69_37n -1 known missense c.1507 p.E503K 0.966 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 56 0 0.00 12 57 82.61 - - - GALC 0 genome.wustl.edu 37 14 88454828 88454828 + Missense_Mutation SNP G G C TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 14 88454828 88454828 G C SNP GALC ENST00000261304 human ensembl 69_37n -1 known missense c.235 p.R79G 1.000 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 - no_errors GALC HGNC ENSG00000054983 107 0 0.00 60 23 27.71 - - - GLUL 0 genome.wustl.edu 37 1 182355487 182355487 + Nonsense_Mutation SNP G G A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 1 182355487 182355487 G A SNP GLUL ENST00000311223 human ensembl 69_37n -1 known nonsense c.379 p.Q127* 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 113 0 0.00 131 25 16.03 - - - HSD17B3 0 genome.wustl.edu 37 9 99064321 99064321 + Silent SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 9 99064321 99064321 C T SNP HSD17B3 ENST00000375263 human ensembl 69_37n -1 known silent c.66 p.A22 0.384 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B3 HGNC ENSG00000130948 136 1 0.72 54 27 33.33 - - - KDELC2 0 genome.wustl.edu 37 11 108361856 108361856 + Missense_Mutation SNP G G T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 11 108361856 108361856 G T SNP KDELC2 ENST00000323468 human ensembl 69_37n -1 known missense c.241 p.P81T 0.160 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC2 HGNC ENSG00000178202 71 0 0.00 48 22 31.43 - - - LHX9 0 genome.wustl.edu 37 1 197890707 197890707 + Silent SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 1 197890707 197890707 C T SNP LHX9 ENST00000367387 human ensembl 69_37n +1 known silent c.651 p.N217 0.547 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX9 HGNC ENSG00000143355 35 0 0.00 28 5 15.15 - - - MED13 0 genome.wustl.edu 37 17 60088032 60088032 + Nonsense_Mutation SNP T T A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 17 60088032 60088032 T A SNP MED13 ENST00000397786 human ensembl 69_37n -1 known nonsense c.1846 p.K616* 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 184 0 0.00 189 53 21.81 - - - MELK 0 genome.wustl.edu 37 9 36594707 36594707 + Missense_Mutation SNP A A G TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 9 36594707 36594707 A G SNP MELK ENST00000298048 human ensembl 69_37n +1 known missense c.344 p.Q115R 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MELK HGNC ENSG00000165304 148 0 0.00 87 46 34.59 - - - MPI 0 genome.wustl.edu 37 15 75190052 75190052 + Missense_Mutation SNP G G A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 15 75190052 75190052 G A SNP MPI ENST00000352410 human ensembl 69_37n +1 known missense c.1253 p.R418H 1.000 superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 - no_errors MPI HGNC ENSG00000178802 192 0 0.00 65 39 37.50 - - - MYH2 0 genome.wustl.edu 37 17 10432037 10432037 + Silent SNP A A G TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 17 10432037 10432037 A G SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known silent c.3714 p.A1238 0.074 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 115 0 0.00 70 17 19.54 - - - NDUFA7 0 genome.wustl.edu 37 19 8381508 8381508 + Silent SNP G G A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 19 8381508 8381508 G A SNP NDUFA7 ENST00000301457 human ensembl 69_37n -1 known silent c.123 p.L41 0.998 pfam_NADH-UbQ_OxRdtase_B14.5a_su pfam_NADH-UbQ_OxRdtase_B14.5a_su - no_errors NDUFA7 HGNC ENSG00000167774 77 0 0.00 45 9 16.67 - - - OR4C13 0 genome.wustl.edu 37 11 49974275 49974275 + Missense_Mutation SNP G G A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 11 49974275 49974275 G A SNP OR4C13 ENST00000555099 human ensembl 69_37n +1 known missense c.301 p.G101R 0.251 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4C13 HGNC ENSG00000258817 146 0 0.00 107 40 27.21 - - - PI15 0 genome.wustl.edu 37 8 75761435 75761435 + Missense_Mutation SNP G G C TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 8 75761435 75761435 G C SNP PI15 ENST00000260113 human ensembl 69_37n +1 known missense c.724 p.D242H 1.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 188 0 0.00 88 81 47.93 - - - PIK3CA 0 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 3 178927980 178927980 T C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1258 p.C420R 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 114 0 0.00 54 56 50.91 - - - PLXNA1 0 genome.wustl.edu 37 3 126736504 126736504 + Silent SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 3 126736504 126736504 C T SNP PLXNA1 ENST00000393409 human ensembl 69_37n +1 known silent c.3513 p.L1171 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 84 0 0.00 21 12 36.36 - - - RBL1 0 genome.wustl.edu 37 20 35627233 35627233 + Missense_Mutation SNP C C A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 20 35627233 35627233 C A SNP RBL1 ENST00000373664 human ensembl 69_37n -1 known missense c.3136 p.V1046F 0.999 pfam_Rb_C pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 343 1 0.29 250 79 24.01 - - - RNF41 0 genome.wustl.edu 37 12 56607765 56607765 + Nonsense_Mutation SNP C C A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 12 56607765 56607765 C A SNP RNF41 ENST00000345093 human ensembl 69_37n -1 known nonsense c.67 p.G23* 1.000 pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,smart_Znf_RING,pfscan_Znf_RING pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 189 0 0.00 97 47 32.64 - - - SLC2A3 0 genome.wustl.edu 37 12 8086481 8086481 + Silent SNP T T G TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 12 8086481 8086481 T G SNP SLC2A3 ENST00000075120 human ensembl 69_37n -1 known silent c.33 p.I11 0.988 superfamily_MFS_dom_general_subst_transpt,prints_Glc_transpt_3,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 227 0 0.00 142 51 26.42 - - - SPTAN1 0 genome.wustl.edu 37 9 131371190 131371190 + Missense_Mutation SNP A A C TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 9 131371190 131371190 A C SNP SPTAN1 ENST00000358161 human ensembl 69_37n +1 known missense c.4529 p.Q1510P 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 85 0 0.00 48 8 14.29 - - - TRIM36 0 genome.wustl.edu 37 5 114482989 114482989 + Missense_Mutation SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 5 114482989 114482989 C T SNP TRIM36 ENST00000282369 human ensembl 69_37n -1 known missense c.401 p.R134Q 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 173 0 0.00 127 62 32.80 - - - WIPI1 0 genome.wustl.edu 37 17 66424974 66424974 + Frame_Shift_Del DEL G G - TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 17 66424974 66424974 G - DEL WIPI1 ENST00000262139 human ensembl 69_37n -1 known frame_shift_del c.1069 p.H357fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI1 HGNC ENSG00000070540 144 0 0.00 129 51 27.87 - - - ZNF439 0 genome.wustl.edu 37 19 11979122 11979122 + Missense_Mutation SNP A A T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a04ba6e9-2bc4-4cab-96d8-0820e0390d84 bda47415-2577-4d09-874a-2a85e999c9cd 19 11979122 11979122 A T SNP ZNF439 ENST00000304030 human ensembl 69_37n +1 known missense c.1238 p.K413M 0.208 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 ZNF439 HGNC ENSG00000171291 115 1 0.86 65 32 32.99 - - -