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 ACTN2 0 genome.wustl.edu 37 1 236883433 236883433 + Silent SNP C C A TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 1 236883433 236883433 C A SNP ACTN2 ENST00000366578 human ensembl 69_37n +1 known silent c.390 p.T130 0.981 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ENSG00000077522 479 0 0.00 399 105 20.83 - - - C19orf25 0 genome.wustl.edu 37 19 1475137 1475137 + Missense_Mutation SNP C C G TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 19 1475137 1475137 C G SNP C19orf25 ENST00000436106 human ensembl 69_37n -1 known missense c.251 p.R84T 0.000 NULL NULL - no_errors C19orf25 HGNC ENSG00000119559 17 0 0.00 3 5 62.50 - - - C21orf119 0 genome.wustl.edu 37 21 33765616 33765616 + Missense_Mutation SNP G G C TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 21 33765616 33765616 G C SNP C21orf119 ENST00000534991 human ensembl 69_37n +1 known missense c.85 p.A29P 0.000 NULL NULL - no_errors C21orf119 HGNC ENSG00000256073 83 0 0.00 36 45 54.88 - - - CEP128 0 genome.wustl.edu 37 14 81382827 81382827 + Missense_Mutation SNP G G T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 14 81382827 81382827 G T SNP CEP128 ENST00000281129 human ensembl 69_37n -1 known missense c.65 p.A22D 0.699 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 332 0 0.00 199 177 46.95 - - - CHI3L1 0 genome.wustl.edu 37 1 203152855 203152855 + Missense_Mutation SNP G G C TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 1 203152855 203152855 G C SNP CHI3L1 ENST00000255409 human ensembl 69_37n -1 known missense c.379 p.L127V 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 287 0 0.00 272 68 20.00 - - - CNN2 0 genome.wustl.edu 37 19 1037646 1037646 + Frame_Shift_Del DEL C C - TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 19 1037646 1037646 C - DEL CNN2 ENST00000263097 human ensembl 69_37n +1 known frame_shift_del c.677 p.R227fs 1.000 pfam_Calponin_repeat,pfscan_Calponin_repeat pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN2 HGNC ENSG00000064666 13 0 0.00 4 2 33.33 - - - CSPG4 0 genome.wustl.edu 37 15 75969495 75969495 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 15 75969495 75969495 C T SNP CSPG4 ENST00000308508 human ensembl 69_37n -1 known missense c.5365 p.G1789S 0.870 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 25 0 0.00 13 9 40.91 - - - DAPK1 0 genome.wustl.edu 37 9 90266523 90266523 + Missense_Mutation SNP G G A TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 9 90266523 90266523 G A SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known missense c.1708 p.V570I 0.012 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 391 0 0.00 226 82 26.62 - - - DSP 0 genome.wustl.edu 37 6 7570674 7570674 + Missense_Mutation SNP G G A TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 6 7570674 7570674 G A SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.1579 p.E527K 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 186 0 0.00 205 74 26.52 - - - DYRK1A 0 genome.wustl.edu 37 21 38884440 38884440 + Missense_Mutation SNP A A G TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 21 38884440 38884440 A G SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known missense c.1898 p.Y633C 1.000 NULL 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 DYRK1A HGNC ENSG00000157540 261 0 0.00 137 134 49.45 - - - EED 0 genome.wustl.edu 37 11 85961453 85961453 + Missense_Mutation SNP A A G TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 11 85961453 85961453 A G SNP EED ENST00000263360 human ensembl 69_37n +1 known missense c.230 p.K77R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 214 0 0.00 171 76 30.77 - - - EFTUD2 0 genome.wustl.edu 37 17 42929146 42929146 + Missense_Mutation SNP G G A TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 17 42929146 42929146 G A SNP EFTUD2 ENST00000426333 human ensembl 69_37n -1 known missense c.2755 p.R919C 0.999 NULL pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 110 0 0.00 26 73 73.74 - - - ETS1 0 genome.wustl.edu 37 11 128443000 128443000 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 11 128443000 128443000 C T SNP ETS1 ENST00000392668 human ensembl 69_37n -1 known missense c.26 p.G9E 0.000 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC ENSG00000134954 141 0 0.00 77 73 48.67 - - - FLRT1 0 genome.wustl.edu 37 11 63884260 63884260 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 11 63884260 63884260 C T SNP FLRT1 ENST00000246841 human ensembl 69_37n +1 known missense c.521 p.A174V 0.899 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 13 0 0.00 10 6 37.50 - - - GAK 0 genome.wustl.edu 37 4 860994 860994 + Missense_Mutation SNP A A G TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 4 860994 860994 A G SNP GAK ENST00000510799 human ensembl 69_37n -1 novel missense c.13 p.C5R 0.003 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GAK HGNC ENSG00000178950 15 0 0.00 12 12 50.00 - - - GPR61 0 genome.wustl.edu 37 1 110086562 110086562 + Silent SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 1 110086562 110086562 C T SNP GPR61 ENST00000404129 human ensembl 69_37n +1 known silent c.918 p.F306 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR61 HGNC ENSG00000156097 207 0 0.00 161 48 22.97 - - - HLA-J 0 genome.wustl.edu 37 6 29974759 29974759 + RNA SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 6 29974759 29974759 C T SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HLA-J HGNC ENSG00000204622 237 0 0.00 174 36 17.14 - - - HS6ST1 0 genome.wustl.edu 37 2 129025860 129025860 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 2 129025860 129025860 C T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.1112 p.R371H 1.000 NULL pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 37 0 0.00 20 4 16.00 - - - KCNJ6 0 genome.wustl.edu 37 21 39086565 39086565 + Missense_Mutation SNP T T C TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 21 39086565 39086565 T C SNP KCNJ6 ENST00000288309 human ensembl 69_37n -1 known missense c.895 p.K299E 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 204 0 0.00 94 84 47.19 - - - LHFPL4 0 genome.wustl.edu 37 3 9594129 9594129 + Missense_Mutation SNP C C G TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 3 9594129 9594129 C G SNP LHFPL4 ENST00000287585 human ensembl 69_37n -1 known missense c.235 p.G79R 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 51 0 0.00 50 17 25.37 - - - MGA 0 genome.wustl.edu 37 15 42032290 42032290 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 15 42032290 42032290 C T SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.4474 p.R1492C 1.000 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 249 0 0.00 251 64 20.32 - - - MYH4 0 genome.wustl.edu 37 17 10346782 10346782 + Silent SNP G G T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 17 10346782 10346782 G T SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known silent c.5730 p.A1910 0.086 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 477 0 0.00 235 150 38.86 - - - NR1H2 0 genome.wustl.edu 37 19 50885244 50885244 + Missense_Mutation SNP A A T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 19 50885244 50885244 A T SNP NR1H2 ENST00000253727 human ensembl 69_37n +1 known missense c.1049 p.N350I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Ecdystd_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 35 0 0.00 23 27 54.00 - - - OMA1 0 genome.wustl.edu 37 1 59004965 59004966 + Frame_Shift_Ins INS - - T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 1 59004965 59004966 - T INS OMA1 ENST00000371226 human ensembl 69_37n -1 known frame_shift_ins c.2_1 p.M1fs 0.992:0.991 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 18 0 0.00 13 2 13.33 - - - PCDHA1 0 genome.wustl.edu 37 5 140167773 140167773 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 5 140167773 140167773 C T SNP PCDHA1 ENST00000504120 human ensembl 69_37n +1 known missense c.1898 p.T633M 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 82 0 0.00 80 31 27.93 - - - PCDHGB2 0 genome.wustl.edu 37 5 140741005 140741005 + Missense_Mutation SNP A A G TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 5 140741005 140741005 A G SNP PCDHGB2 ENST00000522605 human ensembl 69_37n +1 known missense c.1303 p.S435G 0.806 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 103 0 0.00 67 50 42.74 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 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 213 0 0.00 184 226 55.12 - - - PLCH2 0 genome.wustl.edu 37 1 2430566 2430566 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 1 2430566 2430566 C T SNP PLCH2 ENST00000419816 human ensembl 69_37n +1 known missense c.362 p.T121I 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_PLipase_C_Pinositol-sp_Y,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_Pinositol-sp_Y - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLCH2 HGNC ENSG00000149527 96 0 0.00 87 41 32.03 - - - PPL 0 genome.wustl.edu 37 16 4947750 4947750 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 16 4947750 4947750 C T SNP PPL ENST00000345988 human ensembl 69_37n -1 known missense c.898 p.A300T 0.998 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 119 0 0.00 103 21 16.94 - - - SHROOM2 0 genome.wustl.edu 37 X 9905362 9905362 + Missense_Mutation SNP G G A TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 X 9905362 9905362 G A SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known missense c.3776 p.R1259H 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 75 0 0.00 45 31 40.79 - - - STAB1 0 genome.wustl.edu 37 3 52543930 52543930 + Frame_Shift_Del DEL G G - TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 3 52543930 52543930 G - DEL STAB1 ENST00000321725 human ensembl 69_37n +1 known frame_shift_del c.2392 p.V800fs 0.999 smart_EGF-like pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 33 0 0.00 17 3 15.00 - - - TEX15 0 genome.wustl.edu 37 8 30695338 30695338 + Missense_Mutation SNP C C G TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 8 30695338 30695338 C G SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.7313 p.R2438T 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 345 0 0.00 410 228 35.74 - - - TEX15 0 genome.wustl.edu 37 8 30695359 30695359 + Frame_Shift_Del DEL T T - TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 8 30695359 30695359 T - DEL TEX15 ENST00000256246 human ensembl 69_37n -1 known frame_shift_del c.7292 p.N2431fs 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 390 0 0.00 490 243 32.10 - - - TMEM117 0 genome.wustl.edu 37 12 44238679 44238679 + Missense_Mutation SNP C C T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 12 44238679 44238679 C T SNP TMEM117 ENST00000536799 human ensembl 69_37n +1 known missense c.13 p.H5Y 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 191 0 0.00 136 73 34.93 - - - TP53 0 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 17 7578271 7578271 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.578 p.H193R 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 300 0 0.00 88 111 55.50 - - - TSEN15 0 genome.wustl.edu 37 1 184023924 184023924 + Missense_Mutation SNP G G T TCGA-E2-A15E-06A-11D-A12B-09 TCGA-E2-A15E-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3d3c80e-c6f3-4fe8-809b-e710755e1200 1cdbe17e-c0ed-45a4-b4bb-6464cfb60817 1 184023924 184023924 G T SNP TSEN15 ENST00000361641 human ensembl 69_37n +1 known missense c.280 p.G94C 0.911 pfam_tRNA-endonuc_su_Sen15 pfam_tRNA-endonuc_su_Sen15 - no_errors TSEN15 HGNC ENSG00000198860 302 1 0.33 292 59 16.81 - - -