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 ACTL7A 0 genome.wustl.edu 37 9 111625797 111625797 + Missense_Mutation SNP G G A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 9 111625797 111625797 G A SNP ACTL7A ENST00000333999 human ensembl 69_37n +1 known missense c.1195 p.V399M 0.998 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7A HGNC ENSG00000187003 39 0 0.00 30 5 14.29 - - - ACTR5 0 genome.wustl.edu 37 20 37377139 37377139 + Silent SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 20 37377139 37377139 C T SNP ACTR5 ENST00000243903 human ensembl 69_37n +1 known silent c.18 p.F6 0.273 NULL pfam_Actin-like,smart_Actin-like - no_errors ACTR5 HGNC ENSG00000101442 11 0 0.00 4 4 50.00 - - - ANKHD1 0 genome.wustl.edu 37 5 139908991 139908991 + Nonsense_Mutation SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 5 139908991 139908991 C T SNP ANKHD1 ENST00000297183 human ensembl 69_37n +1 known nonsense c.6460 p.Q2154* 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 38 0 0.00 38 9 19.15 - - - BOD1L1 0 genome.wustl.edu 37 4 13617077 13617077 + Missense_Mutation SNP C C A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 4 13617077 13617077 C A SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known missense c.418 p.D140Y 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 87 0 0.00 87 25 22.32 - - - CACNA1E 0 genome.wustl.edu 37 1 181767845 181767845 + Missense_Mutation SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 1 181767845 181767845 C T SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.6817 p.R2273W 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 49 0 0.00 50 12 19.35 - - - CD8B 0 genome.wustl.edu 37 2 87085532 87085532 + Silent SNP A A G TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 2 87085532 87085532 A G SNP CD8B ENST00000331469 human ensembl 69_37n -1 known silent c.51 p.H17 0.000 pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8B HGNC ENSG00000172116 60 0 0.00 57 15 20.83 - - - CSMD1 0 genome.wustl.edu 37 8 3008925 3008925 + Missense_Mutation SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 8 3008925 3008925 C T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.6028 p.G2010S 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB 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 61 0 0.00 60 16 21.05 - - - DNAH9 0 genome.wustl.edu 37 17 11603102 11603102 + Missense_Mutation SNP C C A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 17 11603102 11603102 C A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.4927 p.L1643I 0.073 pfam_Dynein_heavy_dom-2 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 73 0 0.00 72 13 15.29 - - - GATA3 0 genome.wustl.edu 37 10 8111550 8111550 + Nonsense_Mutation SNP A A T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 10 8111550 8111550 A T SNP GATA3 ENST00000379328 human ensembl 69_37n +1 known nonsense c.1039 p.K347* 1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 65 0 0.00 57 12 17.39 - - - GUSB 0 genome.wustl.edu 37 7 65440012 65440012 + Missense_Mutation SNP T T C TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 7 65440012 65440012 T C SNP GUSB ENST00000304895 human ensembl 69_37n -1 known missense c.959 p.Y320C 1.000 pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 25 0 0.00 32 6 15.79 - - - HEPACAM2 0 genome.wustl.edu 37 7 92848661 92848661 + Silent SNP T T A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 7 92848661 92848661 T A SNP HEPACAM2 ENST00000394468 human ensembl 69_37n -1 known silent c.183 p.A61 0.681 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM2 HGNC ENSG00000188175 85 0 0.00 87 18 17.14 - - - KCTD3 0 genome.wustl.edu 37 1 215793916 215793916 + Missense_Mutation SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 1 215793916 215793916 C T SNP KCTD3 ENST00000259154 human ensembl 69_37n +1 known missense c.2404 p.R802W 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 14 0 0.00 19 12 38.71 - - - KCTD5 0 genome.wustl.edu 37 16 2745959 2745959 + Silent SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 16 2745959 2745959 C T SNP KCTD5 ENST00000301738 human ensembl 69_37n +1 known silent c.276 p.I92 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD5 HGNC ENSG00000167977 12 0 0.00 14 12 46.15 - - - LILRA5 0 genome.wustl.edu 37 19 54823200 54823200 + Missense_Mutation SNP G G A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 19 54823200 54823200 G A SNP LILRA5 ENST00000301219 human ensembl 69_37n -1 known missense c.343 p.R115C 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 49 0 0.00 38 18 32.14 - - - MAP3K9 0 genome.wustl.edu 37 14 71206700 71206700 + Frame_Shift_Del DEL A A - TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 14 71206700 71206700 A - DEL MAP3K9 ENST00000553414 human ensembl 69_37n -1 putative frame_shift_del c.831 p.L278fs 0.995 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC ENSG00000006432 42 0 0.00 46 14 22.95 - - - MCF2 0 genome.wustl.edu 37 X 138689712 138689712 + RNA SNP G G A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 X 138689712 138689712 G A SNP MCF2 ENST00000483690 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MCF2 HGNC ENSG00000101977 12 0 0.00 10 5 33.33 - - - MFF 0 genome.wustl.edu 37 2 228211954 228211954 + Silent SNP G G A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 2 228211954 228211954 G A SNP MFF ENST00000353339 human ensembl 69_37n +1 known silent c.606 p.S202 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 60 0 0.00 41 10 19.61 - - - MLL3 0 genome.wustl.edu 37 7 151896463 151896463 + Nonsense_Mutation SNP G G A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 7 151896463 151896463 G A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.4174 p.Q1392* 0.599 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 23 0 0.00 34 18 34.62 - - - NCOR1 0 genome.wustl.edu 37 17 15968898 15968898 + Frame_Shift_Del DEL T T - TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 17 15968898 15968898 T - DEL NCOR1 ENST00000268712 human ensembl 69_37n -1 known frame_shift_del c.4852 p.I1618fs 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 90 0 0.00 86 10 10.31 - - - NPEPPS 0 genome.wustl.edu 37 17 45663749 45663749 + Missense_Mutation SNP G G A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 17 45663749 45663749 G A SNP NPEPPS ENST00000322157 human ensembl 69_37n +1 known missense c.965 p.G322D 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 40 0 0.00 48 6 11.11 - - - NRXN2 0 genome.wustl.edu 37 11 64419603 64419603 + Missense_Mutation SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 11 64419603 64419603 C T SNP NRXN2 ENST00000265459 human ensembl 69_37n -1 known missense c.2440 p.A814T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 16 0 0.00 21 6 22.22 - - - OLFML2B 0 genome.wustl.edu 37 1 161954651 161954651 + Missense_Mutation SNP T T C TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 1 161954651 161954651 T C SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known missense c.1594 p.N532D 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 69 0 0.00 131 28 17.61 - - - OR2T33 0 genome.wustl.edu 37 1 248436527 248436527 + Missense_Mutation SNP A A C TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 1 248436527 248436527 A C SNP OR2T33 ENST00000318021 human ensembl 69_37n -1 known missense c.590 p.M197R 0.018 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,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 OR2T33 HGNC ENSG00000177212 28 0 0.00 72 14 16.28 - - - PFDN4 0 genome.wustl.edu 37 20 52835691 52835691 + RNA SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 20 52835691 52835691 C T SNP PFDN4 ENST00000487129 human ensembl 69_37n +1 known rna NULL NULL 0.202 - - - no_errors PFDN4 HGNC ENSG00000101132 45 0 0.00 54 9 14.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178922328 178922328 + Missense_Mutation SNP C C G TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 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 38 0 0.00 38 10 20.83 - - - PIK3CA 0 genome.wustl.edu 37 3 178948044 178948044 + Missense_Mutation SNP A A G TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 3 178948044 178948044 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2816 p.D939G 1.000 pfam_PI3/4_kinase_cat_dom,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 31 0 0.00 30 7 18.92 - - - TSHR 0 genome.wustl.edu 37 14 81609335 81609335 + Missense_Mutation SNP G G C TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 14 81609335 81609335 G C SNP TSHR ENST00000298171 human ensembl 69_37n +1 known missense c.933 p.Q311H 0.981 prints_TSH_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 19 0 0.00 12 6 33.33 - - - UAP1L1 0 genome.wustl.edu 37 9 139977163 139977163 + Silent SNP G G A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 9 139977163 139977163 G A SNP UAP1L1 ENST00000409858 human ensembl 69_37n +1 known silent c.1506 p.P502 0.000 NULL pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 62 0 0.00 58 21 26.58 - - - UTRN 0 genome.wustl.edu 37 6 144843127 144843127 + Missense_Mutation SNP T T G TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 6 144843127 144843127 T G SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.5553 p.I1851M 0.147 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 15 0 0.00 18 7 26.92 - - - VSIG4 0 genome.wustl.edu 37 X 65241995 65241995 + Missense_Mutation SNP G G A TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 122e2093-6f49-473d-a23b-aa7913bfbc9f e8ded17f-7468-4657-aabd-21f759487ce5 X 65241995 65241995 G A SNP VSIG4 ENST00000427538 human ensembl 69_37n -1 known missense c.755 p.A252V 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VSIG4 HGNC ENSG00000155659 48 0 0.00 66 13 16.46 - - -