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 ADH7 0 genome.wustl.edu 37 4 100341731 100341731 + Missense_Mutation SNP C C T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 4 100341731 100341731 C T SNP ADH7 ENST00000209665 human ensembl 69_37n -1 known missense c.820 p.V274M 0.164 pfam_ADH_C pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 99 0 0.00 149 34 18.58 - - - ATG2B 0 genome.wustl.edu 37 14 96797849 96797849 + Missense_Mutation SNP T T C TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 14 96797849 96797849 T C SNP ATG2B ENST00000359933 human ensembl 69_37n -1 known missense c.1594 p.N532D 0.798 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 90 0 0.00 158 30 15.96 - - - ATP2B3 0 genome.wustl.edu 37 X 152807217 152807217 + Missense_Mutation SNP G G T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d X 152807217 152807217 G T SNP ATP2B3 ENST00000263519 human ensembl 69_37n +1 known missense c.497 p.C166F 0.879 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 93 0 0.00 202 33 14.04 - - - BMPR2 0 genome.wustl.edu 37 2 203242213 203242213 + Nonsense_Mutation SNP C C T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 2 203242213 203242213 C T SNP BMPR2 ENST00000374580 human ensembl 69_37n +1 known nonsense c.16 p.Q6* 0.233 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 120 0 0.00 116 40 25.64 - - - CDKN1B 0 genome.wustl.edu 37 12 12871146 12871147 + Frame_Shift_Ins INS - - C TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 12 12871146 12871147 - C INS CDKN1B ENST00000228872 human ensembl 69_37n +1 known frame_shift_ins c.373_374 p.E126fs 0.665:0.670 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 14 0 0.00 20 15 42.86 - - - DIRAS2 0 genome.wustl.edu 37 9 93375893 93375893 + Missense_Mutation SNP G G A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 9 93375893 93375893 G A SNP DIRAS2 ENST00000375765 human ensembl 69_37n -1 known missense c.217 p.R73W 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS2 HGNC ENSG00000165023 89 0 0.00 185 65 26.00 - - - EFR3A 0 genome.wustl.edu 37 8 132998454 132998454 + Frame_Shift_Del DEL G G - TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 8 132998454 132998454 G - DEL EFR3A ENST00000254624 human ensembl 69_37n +1 known frame_shift_del c.1883 p.R628fs 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 198 0 0.00 114 47 28.14 - - - FAM120C 0 genome.wustl.edu 37 X 54161503 54161503 + Silent SNP T T A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d X 54161503 54161503 T A SNP FAM120C ENST00000375180 human ensembl 69_37n -1 known silent c.1377 p.P459 0.963 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 166 0 0.00 269 50 15.67 - - - FMO1 0 genome.wustl.edu 37 1 171236862 171236862 + Missense_Mutation SNP C C A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 1 171236862 171236862 C A SNP FMO1 ENST00000354841 human ensembl 69_37n +1 known missense c.313 p.Q105K 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 102 0 0.00 289 49 14.50 - - - GLT1D1 0 genome.wustl.edu 37 12 129467539 129467539 + Silent SNP C C T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 12 129467539 129467539 C T SNP GLT1D1 ENST00000442111 human ensembl 69_37n +1 known silent c.945 p.N315 0.000 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 169 1 0.59 283 53 15.77 - - - GPA33 0 genome.wustl.edu 37 1 167024281 167024281 + Silent SNP G G T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 1 167024281 167024281 G T SNP GPA33 ENST00000367868 human ensembl 69_37n -1 known silent c.759 p.G253 0.003 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors GPA33 HGNC ENSG00000143167 61 0 0.00 200 28 12.23 - - - GPR98 0 genome.wustl.edu 37 5 90086905 90086905 + Silent SNP T T C TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 5 90086905 90086905 T C SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known silent c.14259 p.S4753 0.993 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 177 0 0.00 393 77 16.38 - - - KIF16B 0 genome.wustl.edu 37 20 16486798 16486798 + Missense_Mutation SNP C C T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 20 16486798 16486798 C T SNP KIF16B ENST00000408042 human ensembl 69_37n -1 known missense c.737 p.S246N 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 38 0 0.00 81 44 35.20 - - - KRT35 0 genome.wustl.edu 37 17 39633898 39633898 + Silent SNP G G T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 17 39633898 39633898 G T SNP KRT35 ENST00000393989 human ensembl 69_37n -1 known silent c.1092 p.A364 0.000 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 103 0 0.00 210 110 34.27 - - - LARP4B 0 genome.wustl.edu 37 10 871788 871788 + Missense_Mutation SNP C C A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 10 871788 871788 C A SNP LARP4B ENST00000316157 human ensembl 69_37n -1 known missense c.1148 p.G383V 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 89 0 0.00 46 54 54.00 - - - LINGO2 0 genome.wustl.edu 37 9 27949369 27949369 + Missense_Mutation SNP G G T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 9 27949369 27949369 G T SNP LINGO2 ENST00000308675 human ensembl 69_37n -1 known missense c.1301 p.A434E 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 116 0 0.00 296 55 15.67 - - - MDGA1 0 genome.wustl.edu 37 6 37612289 37612290 + Frame_Shift_Del DEL TA TA - TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 6 37612289 37612290 TA - DEL MDGA1 ENST00000297153 human ensembl 69_37n -1 known frame_shift_del c.2397_2396 p.I799fs 0.998:1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 134 0 0.00 149 26 14.69 - - - MLL3 0 genome.wustl.edu 37 7 151851131 151851132 + Frame_Shift_Ins INS - - A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 7 151851131 151851132 - A INS MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_ins c.12411_12410 p.S4138fs 0.927:0.999 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 192 0 0.00 227 95 29.50 - - - OR10A2 0 genome.wustl.edu 37 11 6891161 6891161 + Missense_Mutation SNP G G T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 11 6891161 6891161 G T SNP OR10A2 ENST00000307322 human ensembl 69_37n +1 known missense c.176 p.G59V 1.000 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 OR10A2 HGNC ENSG00000170790 173 1 0.57 496 97 16.36 - - - OR4S2 0 genome.wustl.edu 37 11 55419253 55419253 + Missense_Mutation SNP G G T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 11 55419253 55419253 G T SNP OR4S2 ENST00000312422 human ensembl 69_37n +1 known missense c.874 p.V292L 0.972 pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 88 0 0.00 163 96 37.07 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 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 111 0 0.00 197 33 14.35 - - - PKHD1 0 genome.wustl.edu 37 6 51637584 51637584 + Missense_Mutation SNP A A T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 6 51637584 51637584 A T SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.8558 p.V2853D 1.000 pfam_G8_domain pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 140 1 0.71 116 86 42.36 - - - PRSS33 0 genome.wustl.edu 37 16 2834663 2834663 + Missense_Mutation SNP C C G TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 16 2834663 2834663 C G SNP PRSS33 ENST00000293851 human ensembl 69_37n -1 known missense c.825 p.Q275H 0.961 superfamily_Pept_cys/ser_Trypsin-like,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS33 HGNC ENSG00000103355 43 0 0.00 51 23 31.08 - - - PTEN 0 genome.wustl.edu 37 10 89693002 89693003 + Frame_Shift_Ins INS - - A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 10 89693002 89693003 - A INS PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_ins c.486_487 p.V165fs 1.000:1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,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 70 0 0.00 56 73 56.59 - - - RAPGEF3 0 genome.wustl.edu 37 12 48141337 48141337 + Nonsense_Mutation SNP G G A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 12 48141337 48141337 G A SNP RAPGEF3 ENST00000389212 human ensembl 69_37n -1 known nonsense c.1546 p.R516* 1.000 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 48 0 0.00 107 35 22.01 - - - RPLP0P2 0 genome.wustl.edu 37 11 61404548 61404548 + RNA SNP G G A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 11 61404548 61404548 G A SNP RPLP0P2 ENST00000496593 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 48 0 0.00 82 36 30.51 - - - S1PR5 0 genome.wustl.edu 37 19 10625096 10625096 + Missense_Mutation SNP C C T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 19 10625096 10625096 C T SNP S1PR5 ENST00000333430 human ensembl 69_37n -1 known missense c.592 p.V198M 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 9 0 0.00 10 9 47.37 - - - TAS2R16 0 genome.wustl.edu 37 7 122635049 122635049 + Missense_Mutation SNP G G A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 7 122635049 122635049 G A SNP TAS2R16 ENST00000249284 human ensembl 69_37n -1 known missense c.640 p.H214Y 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 125 0 0.00 269 60 18.18 - - - TBL1XR1 0 genome.wustl.edu 37 3 176752091 176752091 + Missense_Mutation SNP T T C TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 3 176752091 176752091 T C SNP TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known missense c.1145 p.N382S 0.987 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL1XR1 HGNC ENSG00000177565 142 0 0.00 187 41 17.98 - - - TRIM16L 0 genome.wustl.edu 37 17 18638608 18638608 + Silent SNP C C T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 17 18638608 18638608 C T SNP TRIM16L ENST00000395902 human ensembl 69_37n +1 known silent c.1044 p.G348 0.291 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC ENSG00000108448 173 0 0.00 267 112 29.47 - - - VNN1 0 genome.wustl.edu 37 6 133015262 133015262 + Missense_Mutation SNP T T C TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 6 133015262 133015262 T C SNP VNN1 ENST00000367928 human ensembl 69_37n -1 known missense c.401 p.Y134C 0.995 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 249 0 0.00 309 65 17.38 - - - VPS13D 0 genome.wustl.edu 37 1 12445347 12445347 + Missense_Mutation SNP G G A TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 1 12445347 12445347 G A SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.11399 p.S3800N 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 116 0 0.00 103 36 25.90 - - - ZBTB10 0 genome.wustl.edu 37 8 81412499 81412499 + Frame_Shift_Del DEL A A - TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 8 81412499 81412499 A - DEL ZBTB10 ENST00000426744 human ensembl 69_37n +1 known frame_shift_del c.1743 p.R583fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 15 0 0.00 35 7 16.67 - - - ZNF292 0 genome.wustl.edu 37 6 87865327 87865327 + Silent SNP C C T TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe96b832-cb86-4499-948a-5124a43d5c95 748f5a6c-a00e-4da7-a556-d5460c51923d 6 87865327 87865327 C T SNP ZNF292 ENST00000369577 human ensembl 69_37n +1 known silent c.18 p.A6 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 27 0 0.00 27 9 25.00 - - -