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 ADAM29 0 genome.wustl.edu 37 4 175896768 175896768 + Missense_Mutation SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 4 175896768 175896768 C T SNP ADAM29 ENST00000359240 human ensembl 69_37n +1 known missense c.92 p.P31L 0.075 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 28 0 0.00 14 14 50.00 - - - AGBL4 0 genome.wustl.edu 37 1 50489468 50489468 + Frame_Shift_Del DEL T T - TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 1 50489468 50489468 T - DEL AGBL4 ENST00000371839 human ensembl 69_37n -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 29 0 0.00 16 2 11.11 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015325 133015325 + RNA SNP G G A TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 2 133015325 133015325 G A SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.126 - - - no_errors ANKRD30BL HGNC ENSG00000163046 30 0 0.00 21 4 16.00 - - - ARHGEF4 0 genome.wustl.edu 37 2 131785560 131785560 + Missense_Mutation SNP A A T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 2 131785560 131785560 A T SNP ARHGEF4 ENST00000326016 human ensembl 69_37n +1 known missense c.470 p.E157V 0.994 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 28 0 0.00 16 4 20.00 - - - BRCA2 0 genome.wustl.edu 37 13 32911964 32911964 + Missense_Mutation SNP G G C TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 13 32911964 32911964 G C SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known missense c.3472 p.E1158Q 0.001 pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 38 0 0.00 25 11 30.56 - - - BRCA2 0 genome.wustl.edu 37 13 32912065 32912065 + Missense_Mutation SNP G G C TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 13 32912065 32912065 G C SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known missense c.3573 p.K1191N 0.000 pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 39 0 0.00 25 8 24.24 - - - C9orf174 0 genome.wustl.edu 37 9 100087310 100087310 + Missense_Mutation SNP G G A TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 9 100087310 100087310 G A SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.1513 p.E505K 0.861 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 24 0 0.00 9 13 59.09 - - - CDH26 0 genome.wustl.edu 37 20 58559737 58559737 + Silent SNP A A G TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 20 58559737 58559737 A G SNP CDH26 ENST00000244047 human ensembl 69_37n +1 known silent c.585 p.E195 0.048 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 57 0 0.00 29 20 40.82 - - - CEP120 0 genome.wustl.edu 37 5 122682280 122682282 + In_Frame_Del DEL TCC TCC - TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 5 122682280 122682282 TCC - DEL CEP120 ENST00000306467 human ensembl 69_37n -1 known in_frame_del c.2894_2892 p.E964in_frame_del 1.000:1.000:0.999 NULL pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP120 HGNC ENSG00000168944 70 0 0.00 48 20 29.41 - - - CRAT 0 genome.wustl.edu 37 9 131859542 131859542 + Missense_Mutation SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 9 131859542 131859542 C T SNP CRAT ENST00000318080 human ensembl 69_37n -1 known missense c.1514 p.G505D 0.969 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 18 0 0.00 4 5 55.56 - - - CREB3 0 genome.wustl.edu 37 9 35733103 35733103 + Silent SNP C C G TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 9 35733103 35733103 C G SNP CREB3 ENST00000353704 human ensembl 69_37n +1 known silent c.240 p.T80 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 63 0 0.00 48 24 33.33 - - - DNAH9 0 genome.wustl.edu 37 17 11772531 11772531 + Silent SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 17 11772531 11772531 C T SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known silent c.10014 p.A3338 0.404 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 31 0 0.00 18 8 30.77 - - - FAHD2B 0 genome.wustl.edu 37 2 97748462 97748462 + RNA SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 2 97748462 97748462 C T SNP FAHD2B ENST00000443258 human ensembl 69_37n -1 known rna NULL NULL 0.126 - - - no_errors FAHD2B HGNC ENSG00000144199 42 0 0.00 15 7 31.82 - - - FBXW7 0 genome.wustl.edu 37 4 153251936 153251936 + Missense_Mutation SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 4 153251936 153251936 C T SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.1070 p.R357K 1.000 superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 137 0 0.00 67 37 35.58 - - - FRG1B 0 genome.wustl.edu 37 20 29614296 29614297 + RNA INS - - AGA TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 20 29614296 29614297 - AGA INS FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.998:0.997 - - - no_errors FRG1B HGNC ENSG00000149531 8 0 0.00 7 4 36.36 - - - GABRG2 0 genome.wustl.edu 37 5 161576176 161576176 + Missense_Mutation SNP G G T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 5 161576176 161576176 G T SNP GABRG2 ENST00000356592 human ensembl 69_37n +1 known missense c.985 p.V329F 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 127 0 0.00 78 32 29.09 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23689114 23689114 + Missense_Mutation SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 15 23689114 23689114 C T SNP GOLGA6L2 ENST00000566571 human ensembl 69_37n -1 known missense c.371 p.G124D 0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 17 0 0.00 5 4 44.44 - - - HLA-DRB5 0 genome.wustl.edu 37 6 32489744 32489744 + Frame_Shift_Del DEL G G - TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 6 32489744 32489744 G - DEL HLA-DRB5 ENST00000374975 human ensembl 69_37n -1 known frame_shift_del c.308 p.A103fs 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC ENSG00000198502 9 0 0.00 4 2 33.33 - - - INTS6 0 genome.wustl.edu 37 13 52026554 52026554 + Missense_Mutation SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 13 52026554 52026554 C T SNP INTS6 ENST00000311234 human ensembl 69_37n -1 known missense c.108 p.M36I 1.000 pfam_VWF_A,pfscan_VWF_A pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 26 0 0.00 10 6 37.50 - - - LINC00521 0 genome.wustl.edu 37 14 94467722 94467722 + RNA SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 14 94467722 94467722 C T SNP LINC00521 ENST00000444118 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors LINC00521 HGNC ENSG00000175699 11 0 0.00 8 8 50.00 - - - MAP2K4 0 genome.wustl.edu 37 17 12016647 12016648 + Frame_Shift_Del DEL AA AA - TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 17 12016647 12016648 AA - DEL MAP2K4 ENST00000415385 human ensembl 69_37n +1 known frame_shift_del c.816_817 p.D274fs 0.986:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K4 HGNC ENSG00000065559 33 0 0.00 8 9 50.00 - - - MUC4 0 genome.wustl.edu 37 3 195510372 195510372 + Missense_Mutation SNP G G C TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 3 195510372 195510372 G C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.8079 p.D2693E 0.004 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 27 0 0.00 15 4 20.00 - - - OR5H1 0 genome.wustl.edu 37 3 97851916 97851916 + Silent SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 3 97851916 97851916 C T SNP OR5H1 ENST00000354565 human ensembl 69_37n +1 known silent c.375 p.A125 0.997 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 OR5H1 HGNC ENSG00000231192 50 0 0.00 15 18 54.55 - - - PHB2 0 genome.wustl.edu 37 12 7074852 7074852 + Missense_Mutation SNP T T G TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 12 7074852 7074852 T G SNP PHB2 ENST00000399433 human ensembl 69_37n -1 known missense c.896 p.K299T 0.982 NULL pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 55 0 0.00 24 14 36.84 - - - PIK3CA 0 genome.wustl.edu 37 3 178936094 178936094 + Missense_Mutation SNP C C A TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 3 178936094 178936094 C A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1636 p.Q546K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 63 0 0.00 25 15 37.50 - - - PIK3CA 0 genome.wustl.edu 37 3 178952018 178952018 + Missense_Mutation SNP A A G TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 3 178952018 178952018 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3073 p.T1025A 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 43 0 0.00 26 15 36.59 - - - PRKACG 0 genome.wustl.edu 37 9 71628862 71628862 + Silent SNP C C A TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 9 71628862 71628862 C A SNP PRKACG ENST00000377276 human ensembl 69_37n -1 known silent c.147 p.T49 0.984 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 57 0 0.00 36 15 29.41 - - - PTGER4 0 genome.wustl.edu 37 5 40692393 40692393 + Silent SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 5 40692393 40692393 C T SNP PTGER4 ENST00000302472 human ensembl 69_37n +1 known silent c.1380 p.S460 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 21 0 0.00 11 10 47.62 - - - RASGRF2 0 genome.wustl.edu 37 5 80338748 80338748 + Missense_Mutation SNP G G A TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 5 80338748 80338748 G A SNP RASGRF2 ENST00000265080 human ensembl 69_37n +1 known missense c.341 p.R114H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 80 0 0.00 39 22 36.07 - - - RASIP1 0 genome.wustl.edu 37 19 49227977 49227977 + Nonsense_Mutation SNP G G A TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 19 49227977 49227977 G A SNP RASIP1 ENST00000222145 human ensembl 69_37n -1 known nonsense c.2368 p.R790* 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 41 0 0.00 13 12 46.15 - - - SGSM2 0 genome.wustl.edu 37 17 2265513 2265513 + Missense_Mutation SNP T T C TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 17 2265513 2265513 T C SNP SGSM2 ENST00000268989 human ensembl 69_37n +1 known missense c.407 p.L136P 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 28 0 0.00 8 8 50.00 - - - SNED1 0 genome.wustl.edu 37 2 241989250 241989250 + Nonsense_Mutation SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 2 241989250 241989250 C T SNP SNED1 ENST00000401644 human ensembl 69_37n +1 novel nonsense c.724 p.R242* 0.960 pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon SNED1 HGNC ENSG00000162804 55 0 0.00 26 4 13.33 - - - STX6 0 genome.wustl.edu 37 1 180971828 180971828 + Missense_Mutation SNP C C T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 1 180971828 180971828 C T SNP STX6 ENST00000258301 human ensembl 69_37n -1 known missense c.214 p.E72K 1.000 pfam_Syntaxin-6_N,superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 76 0 0.00 56 25 30.86 - - - TAOK1 0 genome.wustl.edu 37 17 27804712 27804712 + Missense_Mutation SNP G G T TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 17 27804712 27804712 G T SNP TAOK1 ENST00000261716 human ensembl 69_37n +1 known missense c.340 p.D114Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC ENSG00000160551 39 0 0.00 35 4 10.26 - - - TNRC6B 0 genome.wustl.edu 37 22 40661715 40661715 + Missense_Mutation SNP A A G TCGA-EW-A1PE-01A-11D-A142-09 TCGA-EW-A1PE-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 54377bac-8f52-4116-b7e5-b71a8a721ac4 e18ccc97-6ed5-48fb-85ce-6a9484ce18bd 22 40661715 40661715 A G SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known missense c.1481 p.N494S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 31 0 0.00 13 10 43.48 - - -