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 ARV1 0 genome.wustl.edu 37 1 231131566 231131567 + Frame_Shift_Ins INS - - A TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 1 231131566 231131567 - A INS ARV1 ENST00000310256 human ensembl 69_37n +1 known frame_shift_ins c.509_510 p.K174fs 0.000:0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 108 0 0.00 108 36 25.00 - - - B4GALNT2 0 genome.wustl.edu 37 17 47246211 47246211 + Nonsense_Mutation SNP C C T TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 17 47246211 47246211 C T SNP B4GALNT2 ENST00000300404 human ensembl 69_37n +1 known nonsense c.1444 p.R482* 0.204 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 57 0 0.00 18 14 41.18 - - - BPTF 0 genome.wustl.edu 37 17 65822267 65822269 + In_Frame_Del DEL GAG GAG - TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 17 65822267 65822269 GAG - DEL BPTF ENST00000321892 human ensembl 69_37n +1 known in_frame_del c.427_429 p.E146in_frame_del 1.000:1.000:1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 38 0 0.00 6 2 25.00 - - - CDC5L 0 genome.wustl.edu 37 6 44413391 44413391 + Splice_Site SNP G G C TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 6 44413391 44413391 G C SNP CDC5L ENST00000371477 human ensembl 69_37n +1 known splice_site c.2092-1 e15-1 1.000 - - - no_errors CDC5L HGNC ENSG00000096401 41 0 0.00 18 7 28.00 - - - COL4A6 0 genome.wustl.edu 37 X 107402723 107402723 + Missense_Mutation SNP C C A TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 X 107402723 107402723 C A SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known missense c.4784 p.R1595L 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 73 0 0.00 23 10 30.30 - - - DENND5B 0 genome.wustl.edu 37 12 31613237 31613237 + Missense_Mutation SNP G G C TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 12 31613237 31613237 G C SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known missense c.1088 p.P363R 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 106 0 0.00 47 16 25.40 - - - FRY 0 genome.wustl.edu 37 13 32753825 32753825 + Missense_Mutation SNP C C T TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 13 32753825 32753825 C T SNP FRY ENST00000380250 human ensembl 69_37n +1 known missense c.2885 p.P962L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 118 0 0.00 49 16 24.62 - - - GATA3 0 genome.wustl.edu 37 10 8111558 8111559 + Frame_Shift_Ins INS - - AATA TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 10 8111558 8111559 - AATA INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1047_1048 p.I350fs 1.000:1.000 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 100 0 0.00 36 5 12.20 - - - GNLY 0 genome.wustl.edu 37 2 85923124 85923124 + Nonsense_Mutation SNP G G T TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 2 85923124 85923124 G T SNP GNLY ENST00000526018 human ensembl 69_37n +1 putative nonsense c.100 p.G34* 0.000 smart_SaposinB,pfscan_SaposinB pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_start_codon:pseudogene:no_stop_codon GNLY HGNC ENSG00000115523 78 0 0.00 32 4 11.11 - - - HGS 0 genome.wustl.edu 37 17 79662012 79662012 + Missense_Mutation SNP G G A TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 17 79662012 79662012 G A SNP HGS ENST00000329138 human ensembl 69_37n +1 known missense c.1034 p.S345N 1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 66 0 0.00 14 7 33.33 - - - IFI44 0 genome.wustl.edu 37 1 79120883 79120883 + Missense_Mutation SNP A A G TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 1 79120883 79120883 A G SNP IFI44 ENST00000370747 human ensembl 69_37n +1 known missense c.679 p.I227V 0.000 NULL pfam_TLDc - no_errors IFI44 HGNC ENSG00000137965 116 0 0.00 55 27 32.93 - - - LRRC61 0 genome.wustl.edu 37 7 150034402 150034402 + Missense_Mutation SNP G G A TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 7 150034402 150034402 G A SNP LRRC61 ENST00000323078 human ensembl 69_37n +1 known missense c.452 p.R151Q 0.002 NULL pfam_Leu-rich_rpt - no_errors LRRC61 HGNC ENSG00000127399 76 0 0.00 15 15 48.39 - - - NBAS 0 genome.wustl.edu 37 2 15651439 15651439 + Missense_Mutation SNP A A T TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 2 15651439 15651439 A T SNP NBAS ENST00000281513 human ensembl 69_37n -1 known missense c.782 p.V261E 0.946 superfamily_Quino_amine_DH_bsu pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 75 0 0.00 28 17 36.96 - - - OGDH 0 genome.wustl.edu 37 7 44713499 44713499 + Silent SNP G G A TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 7 44713499 44713499 G A SNP OGDH ENST00000222673 human ensembl 69_37n +1 known silent c.747 p.E249 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 116 0 0.00 42 9 17.31 - - - OPRM1 0 genome.wustl.edu 37 6 154412457 154412457 + Silent SNP T T C TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 6 154412457 154412457 T C SNP OPRM1 ENST00000434900 human ensembl 69_37n +1 known silent c.1293 p.Y431 0.988 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mu_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 115 0 0.00 47 14 22.95 - - - OR6C3 0 genome.wustl.edu 37 12 55725992 55725992 + Missense_Mutation SNP G G A TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 12 55725992 55725992 G A SNP OR6C3 ENST00000379667 human ensembl 69_37n +1 known missense c.508 p.V170I 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C3 HGNC ENSG00000205329 230 0 0.00 96 29 23.20 - - - PIK3CA 0 genome.wustl.edu 37 3 178916944 178916946 + In_Frame_Del DEL AAG AAG - TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 3 178916944 178916946 AAG - DEL PIK3CA ENST00000263967 human ensembl 69_37n +1 known in_frame_del c.331_333 p.K111in_frame_del 1.000:1.000:1.000 NULL 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 37 0 0.00 40 13 24.07 - - - POLR1A 0 genome.wustl.edu 37 2 86302224 86302224 + Frame_Shift_Del DEL G G - TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 2 86302224 86302224 G - DEL POLR1A ENST00000263857 human ensembl 69_37n -1 known frame_shift_del c.1540 p.Q514fs 1.000 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 50 0 0.00 13 2 13.33 - - - RYR3 0 genome.wustl.edu 37 15 34064135 34064135 + Nonsense_Mutation SNP C C A TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 15 34064135 34064135 C A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known nonsense c.8831 p.S2944* 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 94 0 0.00 38 16 29.63 - - - S100Z 0 genome.wustl.edu 37 5 76173644 76173644 + Missense_Mutation SNP A A G TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 5 76173644 76173644 A G SNP S100Z ENST00000317593 human ensembl 69_37n +1 known missense c.287 p.K96R 1.000 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors S100Z HGNC ENSG00000171643 102 0 0.00 55 22 28.57 - - - TACC2 0 genome.wustl.edu 37 10 123954680 123954680 + Missense_Mutation SNP C C T TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 10 123954680 123954680 C T SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.5960 p.P1987L 0.835 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 55 0 0.00 8 13 61.90 - - - TPMT 0 genome.wustl.edu 37 6 18132371 18132371 + Silent SNP C C T TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 6 18132371 18132371 C T SNP TPMT ENST00000309983 human ensembl 69_37n -1 known silent c.618 p.R206 0.001 pfam_TPMT,pirsf_Thiopurine_S-MeTrfase pfam_TPMT,pirsf_Thiopurine_S-MeTrfase - no_errors TPMT HGNC ENSG00000137364 101 0 0.00 61 19 23.75 - - - TTC22 0 genome.wustl.edu 37 1 55251674 55251674 + Silent SNP C C T TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 09fa0bc7-acb3-45b0-b687-977869c31d12 a25f38d9-48a6-4b15-a83b-d1a963324e96 1 55251674 55251674 C T SNP TTC22 ENST00000371276 human ensembl 69_37n -1 known silent c.1002 p.A334 0.682 NULL smart_TPR_repeat - no_errors TTC22 HGNC ENSG00000006555 59 0 0.00 16 12 42.86 - - -