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 FIG4 0 genome.wustl.edu 37 6 110059609 110059609 + Missense_Mutation SNP A A G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 6 110059609 110059609 A G SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.728 p.H243R 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 tier1 - - 54 0 0.00 57 15 20.83 101 1 0.98 75 32 29.91 ZNF608 0 genome.wustl.edu 37 5 123973290 123973290 + R SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 5 123973290 123973290 G A SNP ZNF608 ENST00000513985 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF608 HGNC ENSG00000168916 tier1 - - 102 0 0.00 76 14 15.56 123 0 0.00 66 19 22.35 DJC11 0 genome.wustl.edu 37 1 6696236 6696236 + Missense_Mutation SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 1 6696236 6696236 C T SNP DJC11 ENST00000377577 human ensembl 74_37 -1 known missense c.1595 p.R532Q 0.999 pfam_DnaJ-like_C11_C pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJC11 HGNC ENSG00000007923 tier1 - - 74 0 0.00 66 16 19.51 83 0 0.00 83 14 14.43 JPH2 0 genome.wustl.edu 37 20 42789014 42789014 + Missense_Mutation SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 20 42789014 42789014 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.413 p.R138H 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 tier1 - - 90 0 0.00 73 11 13.10 25 0 0.00 17 4 19.05 C14orf39 0 genome.wustl.edu 37 14 60945104 60945104 + Nonsense_Mutation SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 14 60945104 60945104 C T SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known nonsense c.237 p.W79* 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 tier1 - - 123 0 0.00 71 48 40.34 58 0 0.00 49 21 30.00 PMP22 0 genome.wustl.edu 37 17 15134333 15134333 + Missense_Mutation SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 17 15134333 15134333 C T SNP PMP22 ENST00000494511 human ensembl 74_37 -1 novel missense c.205 p.G69R 0.000 NULL NULL - no_errors PMP22 HGNC ENSG00000109099 tier1 - - 64 0 0.00 41 11 21.15 69 0 0.00 71 12 13.95 PYGO1 0 genome.wustl.edu 37 15 55838428 55838428 + Silent SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 15 55838428 55838428 G A SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known silent c.1053 p.N351 0.996 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 tier1 - - 17 0 0.00 15 4 21.05 96 0 0.00 44 16 26.67 CEP78 0 genome.wustl.edu 37 9 80879143 80879143 + Silent SNP T T C TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 9 80879143 80879143 T C SNP CEP78 ENST00000376597 human ensembl 74_37 +1 known silent c.1539 p.N513 0.948 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 tier1 - - 71 0 0.00 40 26 39.39 88 0 0.00 42 25 37.31 TTLL10 0 genome.wustl.edu 37 1 1117778 1117778 + Missense_Mutation SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 1 1117778 1117778 C T SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known missense c.868 p.R290C 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 tier1 - - 73 0 0.00 53 40 43.01 103 0 0.00 68 52 43.33 LAMA2 0 genome.wustl.edu 37 6 129826487 129826487 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 6 129826487 129826487 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.8690 p.R2897Q 0.985 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SRE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 rs201696115 - 71 0 0.00 54 15 21.74 129 0 0.00 75 15 16.67 GSX2 0 genome.wustl.edu 37 4 54968099 54968099 + R SNP T T C TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 4 54968099 54968099 T C SNP GSX2 ENST00000548609 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSX2 HGNC ENSG00000180613 tier1 - - 68 0 0.00 41 10 19.61 64 1 1.54 36 7 16.28 KIAA1731 0 genome.wustl.edu 37 11 93400776 93400776 + Nonsense_Mutation SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 11 93400776 93400776 C T SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known nonsense c.112 p.R38* 1.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 - - 96 0 0.00 29 11 27.50 108 0 0.00 39 11 22.00 RSE2 0 genome.wustl.edu 37 14 21424364 21424364 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 14 21424364 21424364 G A SNP RSE2 ENST00000304625 human ensembl 74_37 +1 known missense c.434 p.R145Q 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RSE2 HGNC ENSG00000169385 tier1 - - 77 0 0.00 53 54 50.47 25 0 0.00 12 8 40.00 FAM83G 0 genome.wustl.edu 37 17 18881217 18881217 + Missense_Mutation SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 17 18881217 18881217 C T SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.1762 p.V588I 0.853 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 25 0 0.00 19 7 26.92 116 0 0.00 65 26 28.57 HIST1H4C 0 genome.wustl.edu 37 6 26104193 26104193 + Silent SNP A A G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 6 26104193 26104193 A G SNP HIST1H4C ENST00000377803 human ensembl 74_37 +1 known silent c.18 p.K6 0.254 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC ENSG00000197061 tier1 - - 29 0 0.00 12 11 45.83 122 0 0.00 51 40 43.96 PLEKHM2 0 genome.wustl.edu 37 1 16054813 16054813 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 1 16054813 16054813 G A SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.1882 p.V628M 1.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 rs199779846 - 41 0 0.00 21 12 36.36 31 0 0.00 19 7 26.92 PPIL6 0 genome.wustl.edu 37 6 109714072 109714072 + Missense_Mutation SNP A A G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 6 109714072 109714072 A G SNP PPIL6 ENST00000521072 human ensembl 74_37 -1 known missense c.893 p.I298T 0.001 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL6 HGNC ENSG00000185250 tier1 - - 39 0 0.00 40 5 11.11 121 0 0.00 98 23 19.01 TDRD7 0 genome.wustl.edu 37 9 100240849 100240849 + Silent SNP A A G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 9 100240849 100240849 A G SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known silent c.2295 p.P765 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 tier1 - - 74 0 0.00 69 16 18.60 131 1 0.76 104 21 16.80 RNF217 0 genome.wustl.edu 37 6 125330511 125330511 + R SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 6 125330511 125330511 C T SNP RNF217 ENST00000431104 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RNF217 HGNC ENSG00000146373 tier1 - - 51 0 0.00 36 17 32.08 113 1 0.88 74 23 23.71 PHKA1 0 genome.wustl.edu 37 X 71855041 71855041 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 X 71855041 71855041 G A SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.1678 p.P560S 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 tier1 - - 33 0 0.00 38 12 24.00 23 0 0.00 22 7 24.14 LINGO1 0 genome.wustl.edu 37 15 77906924 77906924 + Missense_Mutation SNP A A G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 15 77906924 77906924 A G SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1325 p.V442A 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 31 0 0.00 13 5 27.78 28 0 0.00 16 6 27.27 MARK4 0 genome.wustl.edu 37 19 45801209 45801209 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 19 45801209 45801209 G A SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known missense c.1874 p.R625Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 tier1 - - 26 0 0.00 18 5 21.74 20 0 0.00 23 5 17.86 ABCB4 0 genome.wustl.edu 37 7 87104780 87104780 + Missense_Mutation SNP A A G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 7 87104780 87104780 A G SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 - - 122 0 0.00 71 26 26.80 57 0 0.00 42 5 10.64 ZNF229 0 genome.wustl.edu 37 19 44933794 44933794 + Nonsense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 19 44933794 44933794 G A SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known nonsense c.1162 p.R388* 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ENSG00000167383 tier1 - - 98 0 0.00 24 77 76.24 128 0 0.00 50 136 73.12 ATP13A5 0 genome.wustl.edu 37 3 193028437 193028437 + Missense_Mutation SNP G G C TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 3 193028437 193028437 G C SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.2515 p.Q839E 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 tier1 - - 46 0 0.00 42 12 22.22 108 0 0.00 59 13 18.06 TRIM51HP 0 genome.wustl.edu 37 11 55063041 55063041 + R SNP T T G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 11 55063041 55063041 T G SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.155 - - - no_errors TRIM51HP HGNC ENSG00000166007 tier1 - - 196 0 0.00 155 39 20.00 31 0 0.00 14 4 22.22 NELL1 0 genome.wustl.edu 37 11 20699519 20699519 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 11 20699519 20699519 G A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.97 p.V33I 0.660 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 52 0 0.00 27 24 47.06 119 0 0.00 55 41 42.27 SLC8A2 0 genome.wustl.edu 37 19 47969082 47969082 + Missense_Mutation SNP C C G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 19 47969082 47969082 C G SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.579 p.K193N 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 tier1 - - 53 0 0.00 31 8 20.51 81 0 0.00 47 7 12.96 OR4M1 0 genome.wustl.edu 37 14 20249201 20249201 + Silent SNP C C G TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 14 20249201 20249201 C G SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known silent c.720 p.S240 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 tier1 - - 202 0 0.00 163 27 14.21 144 0 0.00 116 15 11.45 RALYL 0 genome.wustl.edu 37 8 85686863 85686863 + Missense_Mutation SNP C C A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 8 85686863 85686863 C A SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.306 p.N102K 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 tier1 - - 88 0 0.00 38 13 25.49 141 1 0.70 63 21 25.00 HSPA1B 0 genome.wustl.edu 37 6 31797299 31797299 + Missense_Mutation SNP G G T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 6 31797299 31797299 G T SNP HSPA1B ENST00000375650 human ensembl 74_37 +1 known missense c.1572 p.K524N 0.991 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1B HGNC ENSG00000204388 tier1 - - 46 0 0.00 24 4 14.29 13 0 0.00 11 2 15.38 C3orf52 0 genome.wustl.edu 37 3 111849243 111849243 + R SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 3 111849243 111849243 G A SNP C3orf52 ENST00000467942 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C3orf52 HGNC ENSG00000114529 tier1 - - 72 0 0.00 65 18 21.69 125 0 0.00 96 24 20.00 MMP24 0 genome.wustl.edu 37 20 33851599 33851599 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 20 33851599 33851599 G A SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known missense c.823 p.D275N 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 tier1 - - 36 0 0.00 39 7 15.22 42 0 0.00 25 5 16.67 CLK1 0 genome.wustl.edu 37 2 201726031 201726035 + Frame_Shift_Del DEL CTACC CTACC - TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 CTACC CTACC CTACC - CTACC CTACC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 2 201726031 201726035 CTACC - DEL CLK1 ENST00000321356 human ensembl 74_37 -1 known frame_shift_del c.320_316 p.G106fs 1.000:0.999:0.997:1.000:1.000 NULL 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 CLK1 HGNC ENSG00000013441 tier1 127 0 0.00 57 24 29.63 127 0 0.00 57 24 29.63 TP53 0 genome.wustl.edu 37 17 7579328 7579329 + Frame_Shift_Ins INS - - TAAG TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 - - - TAAG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 17 7579328 7579329 - TAAG INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.359_358 p.K120fs 1.000:1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 126 0 0.00 88 60 40.54 98 0 0.00 46 29 38.67 VCX2 0 genome.wustl.edu 37 X 8138101 8138101 + Missense_Mutation SNP A A T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 X 8138101 8138101 A T SNP VCX2 ENST00000317103 human ensembl 74_37 -1 known missense c.392 p.F131Y 0.000 NULL NULL - no_errors VCX2 HGNC ENSG00000177504 tier1 - - 70 0 0.00 20 37 64.91 13 0 0.00 2 6 75.00 ALDH1L1 0 genome.wustl.edu 37 3 125855695 125855695 + Missense_Mutation SNP C C T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 3 125855695 125855695 C T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.1256 p.R419H 0.001 superfamily_Ald_DH/histidinol_DH,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 tier1 - - 36 0 0.00 35 4 10.26 65 0 0.00 63 4 5.88 CDH15 0 genome.wustl.edu 37 16 89251598 89251598 + Missense_Mutation SNP G G T TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 16 89251598 89251598 G T SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.520 p.A174S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 tier1 - - 55 0 0.00 38 4 9.30 10 0 0.00 7 0 0.00 NPIPB11 0 genome.wustl.edu 37 16 29394893 29394895 + In_Frame_Del DEL TAT TAT - TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 TAT TAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 16 29394893 29394895 TAT - DEL NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative in_frame_del c.1360_1358 p.N453in_frame_del 0.023:0.025:0.027 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 12 0 0.00 9 8 47.06 0 0 0.00 0 0 0.00 RASD1 0 genome.wustl.edu 37 17 17398573 17398578 + In_Frame_Del DEL CGCCGC CGCCGC - TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 CGCCGC CGCCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 17 17398573 17398578 CGCCGC - DEL RASD1 ENST00000225688 human ensembl 74_37 -1 known in_frame_del c.712_707 p.GG236in_frame_del 0.406:0.464:0.573:0.575:0.556:0.538 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD1 HGNC ENSG00000108551 tier1 2 0 0.00 0 0 0.00 2 0 0.00 0 0 0.00 ROBO3 0 genome.wustl.edu 37 11 124738935 124738935 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 11 124738935 124738935 G A SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.398 p.R133H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 tier1 - - 36 0 0.00 12 8 40.00 0 0 0.00 0 0 0.00 SARDH 0 genome.wustl.edu 37 9 136535785 136535785 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1ae916d-acc8-4d6b-a887-073d27e808bf d67007dd-9b20-44e4-9926-6d7cc9543082 9 136535785 136535785 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.2416 p.P806S 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 tier1 - - 76 0 0.00 50 6 10.71 1 0 0.00 4 1 20.00