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 ABHD2 0 genome.wustl.edu 37 15 89698616 89698616 + Missense_Mutation SNP T T A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 15 89698616 89698616 T A SNP ABHD2 ENST00000352732 human ensembl 69_37n +1 known missense c.389 p.I130N 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 210 0 0.00 32 62 65.96 - - - AKD1 0 genome.wustl.edu 37 6 109820402 109820402 + Splice_Site SNP C C G TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 6 109820402 109820402 C G SNP AKD1 ENST00000490722 human ensembl 69_37n -1 novel splice_site c.93-1 e2-1 0.999 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AKD1 HGNC ENSG00000155085 150 0 0.00 21 72 77.42 - - - ANKRD13D 0 genome.wustl.edu 37 11 67057824 67057824 + Silent SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 11 67057824 67057824 C T SNP ANKRD13D ENST00000511455 human ensembl 69_37n +1 known silent c.258 p.P86 0.001 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 53 0 0.00 25 8 24.24 - - - ATHL1 0 genome.wustl.edu 37 11 289924 289924 + Missense_Mutation SNP T T A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 11 289924 289924 T A SNP ATHL1 ENST00000409548 human ensembl 69_37n +1 known missense c.108 p.F36L 0.753 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 38 0 0.00 18 10 35.71 - - - C15orf39 0 genome.wustl.edu 37 15 75501096 75501096 + Missense_Mutation SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 15 75501096 75501096 C T SNP C15orf39 ENST00000360639 human ensembl 69_37n +1 known missense c.2707 p.R903C 1.000 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 25 0 0.00 2 5 71.43 - - - C19orf38 0 genome.wustl.edu 37 19 10973880 10973880 + Silent SNP C C G TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 19 10973880 10973880 C G SNP C19orf38 ENST00000397820 human ensembl 69_37n +1 known silent c.540 p.S180 0.003 NULL NULL - no_errors C19orf38 HGNC ENSG00000214212 407 0 0.00 242 144 37.31 - - - CCDC164 0 genome.wustl.edu 37 2 26671656 26671656 + Silent SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 2 26671656 26671656 C T SNP CCDC164 ENST00000288710 human ensembl 69_37n +1 known silent c.1494 p.L498 0.012 NULL NULL - no_errors CCDC164 HGNC ENSG00000157856 91 0 0.00 37 6 13.95 - - - CYP17A1 0 genome.wustl.edu 37 10 104590523 104590523 + Missense_Mutation SNP G G T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 10 104590523 104590523 G T SNP CYP17A1 ENST00000369887 human ensembl 69_37n -1 known missense c.1463 p.S488Y 0.892 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP17A1 HGNC ENSG00000148795 62 0 0.00 25 10 28.57 - - - FAM175B 0 genome.wustl.edu 37 10 126523295 126523295 + Nonsense_Mutation SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 10 126523295 126523295 C T SNP FAM175B ENST00000298492 human ensembl 69_37n +1 known nonsense c.1003 p.Q335* 1.000 NULL prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175 - no_errors FAM175B HGNC ENSG00000165660 258 0 0.00 104 32 23.53 - - - FAT2 0 genome.wustl.edu 37 5 150948446 150948446 + Missense_Mutation SNP G G A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 5 150948446 150948446 G A SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.47 p.A16V 0.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 142 0 0.00 25 53 67.95 - - - FGFR2 0 genome.wustl.edu 37 10 123239386 123239386 + Silent SNP G G A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 10 123239386 123239386 G A SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known silent c.2454 p.G818 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 461 0 0.00 160 157 49.53 - - - FTMT 0 genome.wustl.edu 37 5 121187842 121187842 + Missense_Mutation SNP G G A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 5 121187842 121187842 G A SNP FTMT ENST00000321339 human ensembl 69_37n +1 known missense c.184 p.A62T 0.000 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 18 0 0.00 3 5 62.50 - - - GPR142 0 genome.wustl.edu 37 17 72368642 72368642 + Missense_Mutation SNP A A G TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 17 72368642 72368642 A G SNP GPR142 ENST00000335666 human ensembl 69_37n +1 known missense c.1292 p.D431G 0.059 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 25 0 0.00 5 7 58.33 - - - JPH4 0 genome.wustl.edu 37 14 24040436 24040436 + Frame_Shift_Del DEL C C - TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 14 24040436 24040436 C - DEL JPH4 ENST00000356300 human ensembl 69_37n -1 known frame_shift_del c.1504 p.A502fs 0.057 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 14 0 0.00 22 4 15.38 - - - NAMPTL 0 genome.wustl.edu 37 10 36812539 36812539 + Silent SNP A A G TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 10 36812539 36812539 A G SNP NAMPTL ENST00000440465 human ensembl 69_37n -1 known silent c.624 p.N208 0.999 pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_start_codon NAMPTL HGNC ENSG00000229644 167 0 0.00 149 47 23.98 - - - NAV3 0 genome.wustl.edu 37 12 78388624 78388624 + Missense_Mutation SNP T T C TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 12 78388624 78388624 T C SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.713 p.I238T 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 551 0 0.00 315 200 38.83 - - - NDUFS7 0 genome.wustl.edu 37 19 1387829 1387829 + Frame_Shift_Del DEL C C - TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 19 1387829 1387829 C - DEL NDUFS7 ENST00000233627 human ensembl 69_37n +1 known frame_shift_del c.36 p.R13fs 0.000 NULL pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su - no_errors NDUFS7 HGNC ENSG00000115286 38 0 0.00 11 2 15.38 - - - NEDD9 0 genome.wustl.edu 37 6 11193886 11193886 + Missense_Mutation SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 6 11193886 11193886 C T SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known missense c.499 p.E167K 1.000 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 201 0 0.00 212 84 28.38 - - - NOX1 0 genome.wustl.edu 37 X 100103700 100103700 + Missense_Mutation SNP A A C TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 X 100103700 100103700 A C SNP NOX1 ENST00000372966 human ensembl 69_37n -1 known missense c.1487 p.V496G 0.975 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 398 1 0.25 208 147 41.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178922328 178922328 + Missense_Mutation SNP C C G TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 3 178922328 178922328 C G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1097 p.P366R 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 375 0 0.00 317 199 38.57 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 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 232 0 0.00 124 86 40.95 - - - PIPSL 0 genome.wustl.edu 37 10 95721080 95721080 + RNA SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 10 95721080 95721080 C T SNP PIPSL ENST00000480546 human ensembl 69_37n -1 putative rna NULL NULL 0.993 - - - no_errors PIPSL HGNC ENSG00000180764 174 0 0.00 188 40 17.54 - - - PLXNA4 0 genome.wustl.edu 37 7 131870086 131870086 + Missense_Mutation SNP G G A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 7 131870086 131870086 G A SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known missense c.3130 p.R1044W 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 PLXNA4 HGNC ENSG00000221866 183 0 0.00 78 50 39.06 - - - PPEF1 0 genome.wustl.edu 37 X 18824537 18824537 + Missense_Mutation SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 X 18824537 18824537 C T SNP PPEF1 ENST00000361511 human ensembl 69_37n +1 known missense c.1268 p.S423F 1.000 smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 217 0 0.00 202 79 28.11 - - - PPP1R12B 0 genome.wustl.edu 37 1 202318211 202318211 + Silent SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 1 202318211 202318211 C T SNP PPP1R12B ENST00000336894 human ensembl 69_37n +1 known silent c.232 p.L78 0.965 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 19 0 0.00 11 7 38.89 - - - RYR2 0 genome.wustl.edu 37 1 237656376 237656376 + Missense_Mutation SNP C C A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 1 237656376 237656376 C A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.1944 p.N648K 1.000 pfam_Ca-rel_channel,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 260 0 0.00 125 122 49.39 - - - SHROOM4 0 genome.wustl.edu 37 X 50350796 50350796 + Missense_Mutation SNP G G A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 X 50350796 50350796 G A SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known missense c.3346 p.R1116C 0.256 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 29 0 0.00 35 7 16.67 - - - SLC17A6 0 genome.wustl.edu 37 11 22360147 22360147 + Missense_Mutation SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 11 22360147 22360147 C T SNP SLC17A6 ENST00000263160 human ensembl 69_37n +1 known missense c.68 p.S23L 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 174 0 0.00 183 58 24.07 - - - SLC25A36 0 genome.wustl.edu 37 3 140695183 140695183 + Missense_Mutation SNP A A G TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 3 140695183 140695183 A G SNP SLC25A36 ENST00000324194 human ensembl 69_37n +1 known missense c.824 p.E275G 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 450 0 0.00 295 213 41.85 - - - SLC25A36 0 genome.wustl.edu 37 3 140695184 140695184 + Missense_Mutation SNP A A T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 3 140695184 140695184 A T SNP SLC25A36 ENST00000324194 human ensembl 69_37n +1 known missense c.825 p.E275D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 449 0 0.00 292 213 42.01 - - - SLC30A10 0 genome.wustl.edu 37 1 220089131 220089131 + Missense_Mutation SNP G G A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 1 220089131 220089131 G A SNP SLC30A10 ENST00000366926 human ensembl 69_37n -1 known missense c.1118 p.A373V 0.048 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 104 1 0.94 75 43 36.44 - - - SNX1 0 genome.wustl.edu 37 15 64428587 64428587 + Missense_Mutation SNP G G A TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 15 64428587 64428587 G A SNP SNX1 ENST00000559844 human ensembl 69_37n +1 known missense c.1424 p.R475Q 1.000 pfam_Vps5_C pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 338 1 0.29 73 127 63.50 - - - SOCS6 0 genome.wustl.edu 37 18 67992682 67992682 + Missense_Mutation SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 18 67992682 67992682 C T SNP SOCS6 ENST00000397942 human ensembl 69_37n +1 known missense c.778 p.R260C 0.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 128 0 0.00 40 37 47.44 - - - TMEM80 0 genome.wustl.edu 37 11 700143 700143 + Missense_Mutation SNP T T C TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 11 700143 700143 T C SNP TMEM80 ENST00000397510 human ensembl 69_37n +1 known missense c.116 p.L39P 1.000 NULL pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC ENSG00000177042 184 0 0.00 84 54 39.13 - - - TP53 0 genome.wustl.edu 37 17 7578458 7578458 + Missense_Mutation SNP G G C TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 17 7578458 7578458 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.472 p.R158G 0.981 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 72 0 0.00 12 63 82.89 - - - ZAN 0 genome.wustl.edu 37 7 100344246 100344249 + Frame_Shift_Del DEL CTGT CTGT - TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2299036e-7099-4b53-9143-5935442c3310 24fe7169-ca64-498d-8445-4fd23dff34a8 7 100344246 100344249 CTGT - DEL ZAN ENST00000546292 human ensembl 69_37n +1 known frame_shift_del c.852_855 p.C285fs 0.998:1.000:1.000:0.988 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 156 0 0.00 79 28 25.93 - - -