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 BMPR1B 0 genome.wustl.edu 37 4 96052584 96052584 + Silent SNP C C T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 4 96052584 96052584 C T SNP BMPR1B ENST00000440890 human ensembl 69_37n +1 known silent c.1087 p.L363 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,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors BMPR1B HGNC ENSG00000138696 297 0 0.00 206 77 27.21 - - - COL7A1 0 genome.wustl.edu 37 3 48625779 48625779 + Silent SNP C C A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 3 48625779 48625779 C A SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known silent c.2646 p.S882 0.057 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 13 0 0.00 1 4 80.00 - - - COL9A1 0 genome.wustl.edu 37 6 70990716 70990717 + Frame_Shift_Ins INS - - G TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 6 70990716 70990717 - G INS COL9A1 ENST00000357250 human ensembl 69_37n -1 known frame_shift_ins c.903_902 p.P306fs 0.025:0.983 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 33 0 0.00 6 2 25.00 - - - CPT1A 0 genome.wustl.edu 37 11 68574941 68574941 + Silent SNP G G A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 11 68574941 68574941 G A SNP CPT1A ENST00000265641 human ensembl 69_37n -1 known silent c.447 p.I149 0.983 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 16 0 0.00 8 6 42.86 - - - CSMD1 0 genome.wustl.edu 37 8 2910130 2910130 + Nonsense_Mutation SNP G G T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 8 2910130 2910130 G T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known nonsense c.7517 p.S2506* 0.987 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 39 0 0.00 31 15 32.61 - - - CSMD1 0 genome.wustl.edu 37 8 3245175 3245175 + Missense_Mutation SNP C C G TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 8 3245175 3245175 C G SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.2626 p.D876H 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 15 0 0.00 15 9 37.50 - - - DNAH11 0 genome.wustl.edu 37 7 21784508 21784508 + Silent SNP G G T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 7 21784508 21784508 G T SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known silent c.8358 p.L2786 0.836 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 27 0 0.00 12 8 40.00 - - - EID3 0 genome.wustl.edu 37 12 104698208 104698208 + Missense_Mutation SNP G G A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 12 104698208 104698208 G A SNP EID3 ENST00000527879 human ensembl 69_37n +1 known missense c.496 p.E166K 0.002 pfam_Nse4 pfam_Nse4 - no_errors EID3 HGNC ENSG00000255150 222 0 0.00 112 36 24.32 - - - EIF4G3 0 genome.wustl.edu 37 1 21306904 21306905 + Frame_Shift_Ins INS - - G TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 1 21306904 21306905 - G INS EIF4G3 ENST00000374937 human ensembl 69_37n -1 known frame_shift_ins c.269_268 p.Q90fs 1.000:1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 28 0 0.00 19 3 13.64 - - - EXPH5 0 genome.wustl.edu 37 11 108383532 108383532 + Missense_Mutation SNP G G A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 11 108383532 108383532 G A SNP EXPH5 ENST00000265843 human ensembl 69_37n -1 known missense c.2702 p.P901L 0.001 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 275 1 0.36 121 82 40.20 - - - F5 0 genome.wustl.edu 37 1 169511852 169511852 + Missense_Mutation SNP C C T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 1 169511852 169511852 C T SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.2491 p.E831K 0.003 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 383 0 0.00 428 118 21.53 - - - FOXE3 0 genome.wustl.edu 37 1 47882383 47882384 + Frame_Shift_Ins INS - - C TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 1 47882383 47882384 - C INS FOXE3 ENST00000335071 human ensembl 69_37n +1 known frame_shift_ins c.396_397 p.R133fs 0.991:1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE3 HGNC ENSG00000186790 25 0 0.00 10 2 16.67 - - - GDF5 0 genome.wustl.edu 37 20 34025503 34025504 + Frame_Shift_Ins INS - - C TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 20 34025503 34025504 - C INS GDF5 ENST00000374369 human ensembl 69_37n -1 known frame_shift_ins c.206_205 p.A69fs 0.007:0.002 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 23 0 0.00 15 2 11.76 - - - GPS2 0 genome.wustl.edu 37 17 7217872 7217875 + Frame_Shift_Del DEL CTTC CTTC - TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 CTTC CTTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 17 7217872 7217875 CTTC - DEL GPS2 ENST00000380728 human ensembl 69_37n -1 known frame_shift_del c.139_136 p.E46fs 1.000:0.999:1.000:1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 150 0 0.00 29 17 36.96 - - - IL18RAP 0 genome.wustl.edu 37 2 103040327 103040327 + Missense_Mutation SNP G G C TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 2 103040327 103040327 G C SNP IL18RAP ENST00000264260 human ensembl 69_37n +1 known missense c.127 p.V43L 0.020 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL18RAP HGNC ENSG00000115607 85 0 0.00 48 20 29.41 - - - ITPR2 0 genome.wustl.edu 37 12 26749818 26749818 + Missense_Mutation SNP C C T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 12 26749818 26749818 C T SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.4252 p.E1418K 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 239 0 0.00 178 55 23.50 - - - IZUMO2 0 genome.wustl.edu 37 19 50661562 50661562 + Silent SNP C C T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 19 50661562 50661562 C T SNP IZUMO2 ENST00000293405 human ensembl 69_37n -1 known silent c.459 p.R153 0.019 NULL NULL - no_errors IZUMO2 HGNC ENSG00000161652 181 0 0.00 81 43 34.68 - - - LRP4 0 genome.wustl.edu 37 11 46917494 46917495 + Frame_Shift_Ins INS - - C TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 11 46917494 46917495 - C INS LRP4 ENST00000378623 human ensembl 69_37n -1 known frame_shift_ins c.1124_1123 p.A375fs 0.850:0.844 superfamily_Growth_fac_rcpt,smart_EGF-like pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 44 0 0.00 23 3 11.54 - - - MAP3K15 0 genome.wustl.edu 37 X 19478185 19478185 + Missense_Mutation SNP C C T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 X 19478185 19478185 C T SNP MAP3K15 ENST00000338883 human ensembl 69_37n -1 known missense c.806 p.R269Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 81 0 0.00 77 31 28.44 - - - MICALCL 0 genome.wustl.edu 37 11 12316344 12316345 + In_Frame_Ins INS - - CTC TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 11 12316344 12316345 - CTC INS MICALCL ENST00000256186 human ensembl 69_37n +1 known in_frame_ins c.1366_1367 p.460in_frame_insP 0.004:0.006 NULL pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC ENSG00000133808 106 0 0.00 75 10 11.76 - - - MORC4 0 genome.wustl.edu 37 X 106229353 106229353 + Missense_Mutation SNP G G T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 X 106229353 106229353 G T SNP MORC4 ENST00000355610 human ensembl 69_37n -1 known missense c.386 p.S129Y 1.000 superfamily_ATPase-like_ATP-bd pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 398 0 0.00 210 101 32.48 - - - MUC20 0 genome.wustl.edu 37 3 195345533 195345533 + Silent SNP A A C TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 3 195345533 195345533 A C SNP MUC20 ENST00000381954 human ensembl 69_37n +1 known silent c.6 p.T2 0.012 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 12 0 0.00 7 4 36.36 - - - MUC5B 0 genome.wustl.edu 37 11 1266662 1266662 + Missense_Mutation SNP C C G TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 11 1266662 1266662 C G SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.8561 p.S2854W 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 49 0 0.00 18 7 28.00 - - - MYLK 0 genome.wustl.edu 37 3 123444902 123444902 + Missense_Mutation SNP G G A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 3 123444902 123444902 G A SNP MYLK ENST00000360304 human ensembl 69_37n -1 known missense c.1540 p.P514S 1.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 24 0 0.00 6 12 66.67 - - - NBPF12 0 genome.wustl.edu 37 1 146395461 146395461 + Missense_Mutation SNP G G C TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 1 146395461 146395461 G C SNP NBPF12 ENST00000446760 human ensembl 69_37n +1 known missense c.120 p.E40D 0.023 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 152 0 0.00 106 24 18.46 - - - NUMA1 0 genome.wustl.edu 37 11 71717272 71717272 + Missense_Mutation SNP G G A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 11 71717272 71717272 G A SNP NUMA1 ENST00000393695 human ensembl 69_37n -1 known missense c.5501 p.S1834L 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 32 0 0.00 19 4 17.39 - - - OR7G1 0 genome.wustl.edu 37 19 9225564 9225564 + Silent SNP C C T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 19 9225564 9225564 C T SNP OR7G1 ENST00000293614 human ensembl 69_37n -1 known silent c.876 p.L292 1.000 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 256 0 0.00 169 74 30.45 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 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 73 0 0.00 55 27 32.93 - - - PTEN 0 genome.wustl.edu 37 10 89692780 89692780 + Nonsense_Mutation SNP T T A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 10 89692780 89692780 T A SNP PTEN ENST00000371953 human ensembl 69_37n +1 known nonsense c.264 p.Y88* 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 240 0 0.00 77 86 52.76 - - - RAB39A 0 genome.wustl.edu 37 11 107833060 107833060 + Missense_Mutation SNP G G A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 11 107833060 107833060 G A SNP RAB39A ENST00000320578 human ensembl 69_37n +1 known missense c.616 p.E206K 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39A HGNC ENSG00000179331 67 0 0.00 24 28 53.85 - - - RLF 0 genome.wustl.edu 37 1 40701837 40701838 + Frame_Shift_Ins INS - - A TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 1 40701837 40701838 - A INS RLF ENST00000372771 human ensembl 69_37n +1 known frame_shift_ins c.1463_1464 p.D489fs 1.000:0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 106 0 0.00 45 38 45.78 - - - ZNF683 0 genome.wustl.edu 37 1 26688342 26688342 + Missense_Mutation SNP G G T TCGA-AO-A0JA-01A-11W-A071-09 TCGA-AO-A0JA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0215d4f1-6697-4e8f-afc4-ff7c6439e56d 55ed9925-691d-43df-8472-2d6a52bc9068 1 26688342 26688342 G T SNP ZNF683 ENST00000403843 human ensembl 69_37n -1 known missense c.1375 p.Q459K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 63 0 0.00 10 13 56.52 - - -