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 APBA2 0 genome.wustl.edu 37 15 29346952 29346952 + Missense_Mutation SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 15 29346952 29346952 G A SNP APBA2 ENST00000558259 human ensembl 69_37n +1 known missense c.865 p.E289K 0.991 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 91 0 0.00 76 37 32.74 - - - C11orf53 0 genome.wustl.edu 37 11 111156557 111156557 + Silent SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 11 111156557 111156557 G A SNP C11orf53 ENST00000280325 human ensembl 69_37n +1 known silent c.489 p.S163 0.054 NULL NULL - no_errors C11orf53 HGNC ENSG00000150750 40 0 0.00 8 17 68.00 - - - CARNS1 0 genome.wustl.edu 37 11 67184989 67184989 + Missense_Mutation SNP C C T TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 11 67184989 67184989 C T SNP CARNS1 ENST00000445895 human ensembl 69_37n +1 known missense c.115 p.P39S 0.932 superfamily_TIL_dom superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 79 0 0.00 45 24 34.78 - - - CDH7 0 genome.wustl.edu 37 18 63529956 63529956 + Nonsense_Mutation SNP C C A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 18 63529956 63529956 C A SNP CDH7 ENST00000323011 human ensembl 69_37n +1 known nonsense c.1667 p.S556* 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 66 0 0.00 41 27 39.71 - - - CSTF2 0 genome.wustl.edu 37 X 100093207 100093207 + RNA DEL T T - TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 X 100093207 100093207 T - DEL CSTF2 ENST00000486615 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors CSTF2 HGNC ENSG00000101811 16 0 0.00 8 3 27.27 - - - CUL2 0 genome.wustl.edu 37 10 35314087 35314087 + Missense_Mutation SNP G G T TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 10 35314087 35314087 G T SNP CUL2 ENST00000537177 human ensembl 69_37n -1 known missense c.1714 p.L572I 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 52 0 0.00 32 22 40.74 - - - DMD 0 genome.wustl.edu 37 X 31198556 31198556 + Missense_Mutation SNP G G T TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 X 31198556 31198556 G T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.10017 p.S3339R 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,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 DMD HGNC ENSG00000198947 40 0 0.00 21 13 38.24 - - - EHD3 0 genome.wustl.edu 37 2 31483605 31483605 + Silent SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 31483605 31483605 G A SNP EHD3 ENST00000322054 human ensembl 69_37n +1 known silent c.732 p.V244 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 51 0 0.00 61 63 50.81 - - - EHD3 0 genome.wustl.edu 37 2 31489433 31489433 + Missense_Mutation SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 31489433 31489433 G A SNP EHD3 ENST00000322054 human ensembl 69_37n +1 known missense c.1471 p.D491N 1.000 smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 51 0 0.00 43 51 54.26 - - - FMNL3 0 genome.wustl.edu 37 12 50055828 50055828 + Missense_Mutation SNP C C G TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 12 50055828 50055828 C G SNP FMNL3 ENST00000293590 human ensembl 69_37n -1 known missense c.373 p.V125L 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC ENSG00000161791 48 0 0.00 26 17 39.53 - - - GATA3 0 genome.wustl.edu 37 10 8106093 8106094 + Frame_Shift_Ins INS - - G TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 10 8106093 8106094 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.916_917 p.R307fs 1.000:1.000 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 50 0 0.00 36 15 29.41 - - - HDAC6 0 genome.wustl.edu 37 X 48681345 48681345 + Missense_Mutation SNP T T A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 X 48681345 48681345 T A SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.2578 p.S860T 0.000 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 24 0 0.00 13 10 43.48 - - - HEATR5A 0 genome.wustl.edu 37 14 31844038 31844038 + Missense_Mutation SNP T T C TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 14 31844038 31844038 T C SNP HEATR5A ENST00000538864 human ensembl 69_37n -1 novel missense c.728 p.E243G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HEATR5A HGNC ENSG00000129493 26 0 0.00 21 4 16.00 - - - HMCN1 0 genome.wustl.edu 37 1 186086186 186086186 + Nonsense_Mutation SNP T T A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 1 186086186 186086186 T A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known nonsense c.11622 p.Y3874* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 62 0 0.00 47 20 29.85 - - - HNRPLL 0 genome.wustl.edu 37 2 38818727 38818728 + Frame_Shift_Del DEL CA CA - TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 38818727 38818728 CA - DEL HNRPLL ENST00000449105 human ensembl 69_37n -1 known frame_shift_del c.253_252 p.C84fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRPLL HGNC ENSG00000143889 16 0 0.00 21 6 22.22 - - - IRX3 0 genome.wustl.edu 37 16 54319430 54319431 + Frame_Shift_Del DEL GC GC - TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 16 54319430 54319431 GC - DEL IRX3 ENST00000329734 human ensembl 69_37n -1 known frame_shift_del c.363_362 p.G121fs 1.000:1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX3 HGNC ENSG00000177508 46 0 0.00 11 25 67.57 - - - KCNS3 0 genome.wustl.edu 37 2 18112885 18112885 + Missense_Mutation SNP G G T TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 18112885 18112885 G T SNP KCNS3 ENST00000304101 human ensembl 69_37n +1 known missense c.610 p.V204F 0.164 prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 41 0 0.00 63 17 21.25 - - - MARC2 0 genome.wustl.edu 37 1 220936309 220936309 + Silent SNP T T C TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 1 220936309 220936309 T C SNP MARC2 ENST00000366913 human ensembl 69_37n +1 known silent c.667 p.L223 0.996 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC2 HGNC ENSG00000117791 65 0 0.00 28 28 50.00 - - - MTHFSD 0 genome.wustl.edu 37 16 86585647 86585647 + Nonsense_Mutation SNP C C T TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 16 86585647 86585647 C T SNP MTHFSD ENST00000566469 human ensembl 69_37n -1 putative nonsense c.210 p.W70* 0.992 pfam_FTHF_cligase pfam_FTHF_cligase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MTHFSD HGNC ENSG00000103248 74 0 0.00 31 4 11.43 - - - NARS 0 genome.wustl.edu 37 18 55274371 55274371 + Silent SNP C C G TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 18 55274371 55274371 C G SNP NARS ENST00000256854 human ensembl 69_37n -1 known silent c.996 p.L332 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-synth_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-synth_IIb - no_errors NARS HGNC ENSG00000134440 59 0 0.00 29 18 38.30 - - - NCOA1 0 genome.wustl.edu 37 2 24949504 24949504 + Missense_Mutation SNP A A T TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 24949504 24949504 A T SNP NCOA1 ENST00000348332 human ensembl 69_37n +1 known missense c.2646 p.Q882H 0.993 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA1 HGNC ENSG00000084676 65 0 0.00 26 6 18.75 - - - NCOR1 0 genome.wustl.edu 37 17 15965426 15965426 + Nonsense_Mutation SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 17 15965426 15965426 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known nonsense c.5380 p.R1794* 0.994 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 57 0 0.00 20 20 50.00 - - - PLEKHB2 0 genome.wustl.edu 37 2 132110828 132110828 + Missense_Mutation SNP G G T TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 132110828 132110828 G T SNP PLEKHB2 ENST00000303908 human ensembl 69_37n +1 known missense c.659 p.R220M 0.981 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 31 0 0.00 26 9 25.71 - - - RNF113A 0 genome.wustl.edu 37 X 119004944 119004944 + Silent SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 X 119004944 119004944 G A SNP RNF113A ENST00000371442 human ensembl 69_37n -1 known silent c.633 p.C211 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 18 0 0.00 16 10 38.46 - - - RP1L1 0 genome.wustl.edu 37 8 10468681 10468681 + Missense_Mutation SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 8 10468681 10468681 G A SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known missense c.2927 p.A976V 0.010 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 20 0 0.00 22 16 42.11 - - - RPGRIP1 0 genome.wustl.edu 37 14 21794169 21794169 + Frame_Shift_Del DEL C C - TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 14 21794169 21794169 C - DEL RPGRIP1 ENST00000206660 human ensembl 69_37n +1 known frame_shift_del c.2547 p.Q850fs 0.987 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 103 0 0.00 66 32 32.65 - - - RPL17-C18ORF32 0 genome.wustl.edu 37 18 47017223 47017223 + Silent SNP A A C TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 18 47017223 47017223 A C SNP RPL17-C18ORF32 ENST00000418495 human ensembl 69_37n -1 known silent c.156 p.T52 0.931 pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc - no_errors RP11-110H1.2 Clone_based_vega_gene ENSG00000215472 96 0 0.00 84 31 26.96 - - - SF3B4 0 genome.wustl.edu 37 1 149898647 149898648 + Frame_Shift_Del DEL AG AG - TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 1 149898647 149898648 AG - DEL SF3B4 ENST00000271628 human ensembl 69_37n -1 known frame_shift_del c.327_326 p.P109fs 0.926:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 131 0 0.00 558 82 12.65 - - - TLR4 0 genome.wustl.edu 37 9 120475369 120475369 + Missense_Mutation SNP A A C TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 9 120475369 120475369 A C SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.963 p.E321D 0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 51 0 0.00 30 14 31.82 - - - TLR8 0 genome.wustl.edu 37 X 12940143 12940143 + Missense_Mutation SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 X 12940143 12940143 G A SNP TLR8 ENST00000218032 human ensembl 69_37n +1 known missense c.2984 p.R995Q 0.941 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 89 0 0.00 41 17 29.31 - - - TMEM18 0 genome.wustl.edu 37 2 676599 676599 + Missense_Mutation SNP G G C TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 676599 676599 G C SNP TMEM18 ENST00000405941 human ensembl 69_37n -1 novel missense c.41 p.P14R 0.001 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 62 0 0.00 103 17 14.17 - - - TRPM2 0 genome.wustl.edu 37 21 45821603 45821603 + Silent SNP C C T TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 21 45821603 45821603 C T SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known silent c.2361 p.R787 0.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 83 0 0.00 37 43 53.75 - - - TTN 0 genome.wustl.edu 37 2 179416362 179416362 + Frame_Shift_Del DEL G G - TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 179416362 179416362 G - DEL TTN ENST00000342992 human ensembl 69_37n -1 known frame_shift_del c.83561 p.P27854fs 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 40 0 0.00 11 2 15.38 - - - XDH 0 genome.wustl.edu 37 2 31573005 31573005 + Missense_Mutation SNP G G A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 2 31573005 31573005 G A SNP XDH ENST00000379416 human ensembl 69_37n -1 known missense c.2716 p.L906F 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 52 0 0.00 73 9 10.98 - - - ZSCAN5C 0 genome.wustl.edu 37 19 56717353 56717353 + Missense_Mutation SNP A A G TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a4a09ce0-c9d8-40bf-a595-f164256cabe7 30ff9e09-daf1-4754-8c1e-61bcb8e7a002 19 56717353 56717353 A G SNP ZSCAN5C ENST00000376267 human ensembl 69_37n +1 known missense c.71 p.Q24R 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 37 0 0.00 27 4 12.90 - - -