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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SHBG 0 genome.wustl.edu 37 17 7534625 7534625 + Missense_Mutation SNP C C T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 17 7534625 7534625 C T SNP SHBG ENST00000570353 human ensembl 74_37 +1 known missense c.409 p.H137Y 0.001 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf - no_errors SHBG HGNC ENSG00000129214 tier1 - - 29 0 0.00 15 24 61.54 60 0 0.00 22 16 42.11 SLC25A32 0 genome.wustl.edu 37 8 104417074 104417074 + Silent SNP C C T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 8 104417074 104417074 C T SNP SLC25A32 ENST00000297578 human ensembl 74_37 -1 known silent c.321 p.K107 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 tier1 - - 39 0 0.00 14 5 26.32 93 0 0.00 37 35 48.61 RB1 0 genome.wustl.edu 37 13 48939108 48939108 + Splice_Site SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 13 48939108 48939108 G A SNP RB1 ENST00000267163 human ensembl 74_37 +1 known splice_site c.939+1 e9+1 1.000 - - - no_errors RB1 HGNC ENSG00000139687 tier1 - - 62 0 0.00 62 27 30.34 60 0 0.00 42 11 20.75 PXDNL 0 genome.wustl.edu 37 8 52284449 52284449 + Nonsense_Mutation SNP C C T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 8 52284449 52284449 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known nonsense c.3885 p.W1295* 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 19 0 0.00 22 6 21.43 58 0 0.00 42 14 25.00 KIF1B 0 genome.wustl.edu 37 1 10318638 10318638 + Missense_Mutation SNP G G T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 1 10318638 10318638 G T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.271 p.V91F 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 74 0 0.00 75 21 21.88 113 0 0.00 90 33 26.83 IQGAP3 0 genome.wustl.edu 37 1 156510676 156510676 + Missense_Mutation SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 1 156510676 156510676 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.2563 p.R855C 0.643 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 tier1 - - 20 0 0.00 30 12 28.57 57 0 0.00 49 17 25.76 CCDC181 0 genome.wustl.edu 37 1 169391311 169391311 + Missense_Mutation SNP C C A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 1 169391311 169391311 C A SNP CCDC181 ENST00000367806 human ensembl 74_37 -1 known missense c.358 p.D120Y 1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 tier1 - - 21 0 0.00 13 9 40.91 29 0 0.00 23 15 39.47 KLC2 0 genome.wustl.edu 37 11 66032513 66032513 + Nonsense_Mutation SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 11 66032513 66032513 G A SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known nonsense c.1236 p.W412* 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 tier1 - - 17 0 0.00 17 14 45.16 60 0 0.00 40 18 30.51 PARP8 0 genome.wustl.edu 37 5 50130827 50130827 + Missense_Mutation SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 5 50130827 50130827 G A SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.2440 p.V814I 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 59 0 0.00 32 14 30.43 107 0 0.00 65 46 41.44 TOP1MT 0 genome.wustl.edu 37 8 144397980 144397980 + Missense_Mutation SNP C C G TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 8 144397980 144397980 C G SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.1470 p.K490N 1.000 pfam_TopoI_cat_euk,superfamily_D_brk_join_enz,smart_TopoI_euk pfam_TopoI_D-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_D-bd_euk,superfamily_D_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 tier1 - - 60 0 0.00 60 16 21.05 31 0 0.00 26 4 13.33 BCL7A 0 genome.wustl.edu 37 12 122492735 122492735 + Missense_Mutation SNP A A C TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 12 122492735 122492735 A C SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known missense c.464 p.Q155P 1.000 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 tier1 - - 41 0 0.00 30 7 18.92 52 0 0.00 45 5 10.00 FAM135B 0 genome.wustl.edu 37 8 139164696 139164696 + Silent SNP C C T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 8 139164696 139164696 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.2022 p.G674 0.136 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 30 0 0.00 25 11 30.56 90 0 0.00 83 23 21.70 PCSK5 0 genome.wustl.edu 37 9 78710909 78710909 + Missense_Mutation SNP T T C TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 9 78710909 78710909 T C SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.998 p.I333T 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 46 0 0.00 29 7 19.44 142 0 0.00 142 23 13.94 LAPTM5 0 genome.wustl.edu 37 1 31214657 31214657 + R SNP G G C TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 1 31214657 31214657 G C SNP LAPTM5 ENST00000476492 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LAPTM5 HGNC ENSG00000162511 tier1 - - 25 0 0.00 13 4 23.53 79 0 0.00 61 20 24.69 OCRL 0 genome.wustl.edu 37 X 128723702 128723702 + R SNP A A G TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d X 128723702 128723702 A G SNP OCRL ENST00000463271 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OCRL HGNC ENSG00000122126 tier1 - - 41 0 0.00 8 6 42.86 133 0 0.00 57 47 45.19 GPR37 0 genome.wustl.edu 37 7 124404110 124404110 + Missense_Mutation SNP G G C TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 7 124404110 124404110 G C SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.921 p.D307E 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 tier1 - - 33 0 0.00 31 18 36.73 86 0 0.00 56 24 30.00 ANO7 0 genome.wustl.edu 37 2 242162614 242162614 + Missense_Mutation SNP C C T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 2 242162614 242162614 C T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.2497 p.R833W 0.985 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 tier1 - - 55 0 0.00 58 19 24.68 105 0 0.00 103 42 28.77 IGFBP7 0 genome.wustl.edu 37 4 57907080 57907080 + Silent SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 4 57907080 57907080 G A SNP IGFBP7 ENST00000295666 human ensembl 74_37 -1 known silent c.495 p.P165 0.989 pfam_Ig_I-set,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors IGFBP7 HGNC ENSG00000163453 tier1 - - 24 0 0.00 31 18 36.73 111 0 0.00 99 28 21.88 USP45 0 genome.wustl.edu 37 6 99894289 99894289 + Missense_Mutation SNP T T A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 6 99894289 99894289 T A SNP USP45 ENST00000327681 human ensembl 74_37 -1 known missense c.1359 p.E453D 0.934 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 tier1 - - 47 0 0.00 31 10 24.39 85 0 0.00 50 21 29.58 DCLK3 0 genome.wustl.edu 37 3 36759571 36759571 + Silent SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 3 36759571 36759571 G A SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known silent c.1683 p.D561 0.748 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 tier1 - - 58 0 0.00 43 29 40.28 98 0 0.00 67 28 29.47 RYR2 0 genome.wustl.edu 37 1 237780697 237780697 + Missense_Mutation SNP C C G TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 1 237780697 237780697 C G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5821 p.R1941G 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 36 0 0.00 29 6 17.14 122 0 0.00 75 10 11.76 DMD 0 genome.wustl.edu 37 X 32519917 32519917 + Missense_Mutation SNP C C A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d X 32519917 32519917 C A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.2335 p.D779Y 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 35 0 0.00 4 8 66.67 58 0 0.00 25 17 40.48 ATN1 0 genome.wustl.edu 37 12 7045892 7045900 + In_Frame_Del DEL CAGCAGCAG CAGCAGCAG - TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 CAGCAGCAG CAGCAGCAG CAGCAGCAG - CAGCAGCAG CAGCAGCAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 12 7045892 7045900 CAGCAGCAG - DEL ATN1 ENST00000356654 human ensembl 74_37 +1 known in_frame_del c.1462_1470 p.QQQ491in_frame_del 0.834:0.709:0.730:0.772:0.719:0.700:0.962:0.955:0.948 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 18 0 0.00 14 5 26.32 18 0 0.00 14 5 26.32 NR0B1 0 genome.wustl.edu 37 X 30326646 30326646 + Missense_Mutation SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d X 30326646 30326646 G A SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known missense c.835 p.P279S 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 tier1 rs183613764 GMAF=0 48 0 0.00 34 18 34.62 15 0 0.00 7 4 36.36 WDR24 0 genome.wustl.edu 37 16 736871 736871 + Missense_Mutation SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 16 736871 736871 G A SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known missense c.1595 p.T532M 0.358 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 tier1 - - 33 0 0.00 47 15 24.19 12 0 0.00 8 5 38.46 ZDHHC1 0 genome.wustl.edu 37 16 67432540 67432540 + Silent SNP G G A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 16 67432540 67432540 G A SNP ZDHHC1 ENST00000348579 human ensembl 74_37 -1 known silent c.750 p.L250 0.998 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 tier1 - - 30 0 0.00 17 11 39.29 16 0 0.00 8 5 38.46 GJD2 0 genome.wustl.edu 37 15 35045372 35045372 + Silent SNP A A G TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 15 35045372 35045372 A G SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known silent c.273 p.L91 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 tier1 - - 42 0 0.00 27 5 15.62 85 0 0.00 65 4 5.80 MAGIX 0 genome.wustl.edu 37 X 49022648 49022648 + Silent SNP G G T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d X 49022648 49022648 G T SNP MAGIX ENST00000412696 human ensembl 74_37 +1 known silent c.915 p.V305 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 tier1 - - 38 0 0.00 46 4 8.00 13 0 0.00 9 0 0.00 ENSG00000221684 0 genome.wustl.edu 37 X 70979242 70979259 + R DEL GCGCGCGCGTGCACATGT GCGCGCGCGTGCACATGT - TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 GCGCGCGCGTGCACATGT GCGCGCGCGTGCACATGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d X 70979242 70979259 GCGCGCGCGTGCACATGT - DEL ENSG00000221684 ENST00000408757 human ensembl 74_37 -1 novel rna NULL NULL 0.033:0.033:0.033:0.033:0.033:0.032:0.030:0.029:0.027:0.024:0.022:0.019:0.015:0.012:0.007:0.002:0.000:0.000 - - - no_errors BX276092.1 Clone_based_ensembl_gene ENSG00000221684 tier1 1 0 0.00 1 0 0.00 1 0 0.00 1 0 0.00 ENSG00000256616 0 genome.wustl.edu 37 18 12076541 12076542 + R INS - - CGCCGCCGCCGC TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 18 12076541 12076542 - CGCCGCCGCCGC INS ENSG00000256616 ENST00000591780 human ensembl 74_37 -1 known rna NULL NULL 0.834:0.844 - - - no_errors RP11-815J4.6 Clone_based_vega_gene ENSG00000256616 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 PCDHA3 0 genome.wustl.edu 37 5 140182991 140182991 + Missense_Mutation SNP C C T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 5 140182991 140182991 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.2209 p.P737S 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 41 0 0.00 35 4 10.26 4 0 0.00 1 0 0.00 PDXK 0 genome.wustl.edu 37 21 45157549 45157590 + R DEL GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC - TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 21 45157549 45157590 GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC - DEL PDXK ENST00000476313 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.001:0.000:0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.002:0.003:0.003:0.004:0.003:0.003:0.001:0.000:0.001:0.000:0.000:0.000 - - - no_errors PDXK HGNC ENSG00000160209 tier1 1 0 0.00 4 0 0.00 1 0 0.00 4 0 0.00 TMEM191A 0 genome.wustl.edu 37 22 21055368 21055369 + R INS - - A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 22 21055368 21055369 - A INS TMEM191A ENST00000359859 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.005 - - - no_errors TMEM191A HGNC ENSG00000226287 tier1 13 0 0.00 7 2 22.22 0 0 0.00 0 0 0.00 MUC4 0 genome.wustl.edu 37 3 195512406 195512406 + Silent SNP G G T TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 3 195512406 195512406 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.6045 p.T2015 0.008 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 123 0 0.00 119 27 18.49 49 0 0.00 21 2 8.70 NR1D2 0 genome.wustl.edu 37 3 24009400 24009426 + In_Frame_Del DEL ATGGGAGCAGGGGATCTGCTAAACTCT ATGGGAGCAGGGGATCTGCTAAACTCT - TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 ATGGGAGCAGGGGATCTGCTAAACTCT ATGGGAGCAGGGGATCTGCTAAACTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7451845d-6c6f-44fe-adb1-38fc5e9a3792 97a5fef7-598e-4438-b671-e66791a6de2d 3 24009400 24009426 ATGGGAGCAGGGGATCTGCTAAACTCT - DEL NR1D2 ENST00000312521 human ensembl 74_37 +1 known in_frame_del c.1429_1455 p.GAGDLLNSM478in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.919:1.000:1.000:0.089:1.000:1.000:0.973:1.000:1.000:0.998:1.000:1.000:0.963:1.000:1.000:1.000:1.000:1.000:0.903 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 tier1 135 0 0.00 104 2 1.89 135 0 0.00 104 2 1.89