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 GRP 0 genome.wustl.edu 37 18 56892836 56892836 + Missense_Mutation SNP G G T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 18 56892836 56892836 G T SNP GRP ENST00000256857 human ensembl 74_37 +1 known missense c.252 p.L84F 0.994 NULL pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 tier1 - - 82 0 0.00 39 21 35.00 72 0 0.00 49 38 43.68 ETNPPL 0 genome.wustl.edu 37 4 109683976 109683976 + Splice_Site SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 4 109683976 109683976 C T SNP ETNPPL ENST00000510706 human ensembl 74_37 -1 putative splice_site c.1+1 e0+1 0.000 - - - no_errors ETNPPL HGNC ENSG00000164089 tier1 - - 72 0 0.00 17 6 25.00 61 0 0.00 78 12 13.19 ZNF354B 0 genome.wustl.edu 37 5 178310890 178310890 + Silent SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 5 178310890 178310890 C T SNP ZNF354B ENST00000322434 human ensembl 74_37 +1 known silent c.1437 p.S479 0.127 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 ZNF354B HGNC ENSG00000178338 tier1 - - 64 0 0.00 19 6 24.00 49 0 0.00 40 22 35.48 KC1 0 genome.wustl.edu 37 12 5020795 5020795 + Missense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 12 5020795 5020795 G A SNP KC1 ENST00000382545 human ensembl 74_37 +1 known missense c.251 p.R84H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KC1 HGNC ENSG00000111262 tier1 - - 212 0 0.00 97 20 16.95 19 0 0.00 16 12 42.86 EDEM1 0 genome.wustl.edu 37 3 5257568 5257568 + Missense_Mutation SNP A A G TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 3 5257568 5257568 A G SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known missense c.1939 p.M647V 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 tier1 - - 115 0 0.00 46 11 19.30 67 0 0.00 63 28 30.77 HSF2BP 0 genome.wustl.edu 37 21 44949764 44949764 + Missense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 21 44949764 44949764 G A SNP HSF2BP ENST00000291560 human ensembl 74_37 -1 known missense c.875 p.S292L 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 tier1 - - 67 0 0.00 41 41 50.00 87 0 0.00 40 40 50.00 SRGAP3 0 genome.wustl.edu 37 3 9106121 9106121 + Missense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 3 9106121 9106121 G A SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.631 p.R211C 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 62 0 0.00 15 14 48.28 33 0 0.00 22 17 43.59 TNC 0 genome.wustl.edu 37 9 117808688 117808688 + Splice_Site SNP C C G TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 9 117808688 117808688 C G SNP TNC ENST00000350763 human ensembl 74_37 -1 known splice_site c.5125+1 e16+1 1.000 - - - no_errors TNC HGNC ENSG00000041982 tier1 rs111797890 - 100 0 0.00 23 6 20.69 74 0 0.00 33 15 31.25 DCSTAMP 0 genome.wustl.edu 37 8 105367322 105367322 + Missense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 8 105367322 105367322 G A SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.1247 p.R416H 0.903 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 54 0 0.00 17 8 32.00 49 0 0.00 19 9 32.14 FAM198A 0 genome.wustl.edu 37 3 43074191 43074191 + Missense_Mutation SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 3 43074191 43074191 C T SNP FAM198A ENST00000273146 human ensembl 74_37 +1 known missense c.436 p.P146S 0.000 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 tier1 - - 71 0 0.00 30 15 33.33 106 0 0.00 81 21 20.59 RAD51AP2 0 genome.wustl.edu 37 2 17696723 17696723 + Missense_Mutation SNP A A T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 2 17696723 17696723 A T SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known missense c.2960 p.L987H 0.007 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 tier1 - - 22 0 0.00 13 12 48.00 80 0 0.00 64 26 28.89 INSC 0 genome.wustl.edu 37 11 15267818 15267818 + R SNP G G C TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 11 15267818 15267818 G C SNP INSC ENST00000526102 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors INSC HGNC ENSG00000188487 tier1 - - 59 0 0.00 24 10 29.41 44 0 0.00 44 27 37.50 FAM81B 0 genome.wustl.edu 37 5 94728590 94728590 + Missense_Mutation SNP C C G TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 5 94728590 94728590 C G SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known missense c.217 p.Q73E 0.848 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 tier1 - - 99 0 0.00 102 31 23.31 79 0 0.00 78 21 21.21 PCDH20 0 genome.wustl.edu 37 13 61986224 61986224 + Nonsense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 13 61986224 61986224 G A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known nonsense c.2008 p.R670* 0.907 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 33 0 0.00 33 6 15.38 81 0 0.00 70 13 15.66 CENPC 0 genome.wustl.edu 37 4 68338334 68338334 + Missense_Mutation SNP T T A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 4 68338334 68338334 T A SNP CENPC ENST00000273853 human ensembl 74_37 -1 known missense c.2821 p.I941L 1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 tier1 - - 184 0 0.00 60 113 64.94 44 0 0.00 23 34 59.65 ZNF536 0 genome.wustl.edu 37 19 31038939 31038939 + Missense_Mutation SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 19 31038939 31038939 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2413 p.R805W 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 54 0 0.00 22 6 21.43 35 0 0.00 46 13 22.03 TARS2 0 genome.wustl.edu 37 1 150469344 150469344 + Missense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 1 150469344 150469344 G A SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.980 p.R327Q 1.000 tigrfam_Thr-tR-ligase_IIa pfam_aa-tR-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tR_SAD,superfamily_Thr/Ala-tR-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tR_SAD,pfscan_aa-tR-synth_II,prints_Thr-tR-ligase_IIa,tigrfam_Thr-tR-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 tier1 - - 88 0 0.00 39 9 18.75 106 0 0.00 82 17 17.17 CALML6 0 genome.wustl.edu 37 1 1848446 1848446 + Silent SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 1 1848446 1848446 C T SNP CALML6 ENST00000307786 human ensembl 74_37 +1 known silent c.432 p.N144 0.011 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML6 HGNC ENSG00000169885 tier1 - - 196 0 0.00 72 29 28.71 56 0 0.00 47 10 17.54 PCNT 0 genome.wustl.edu 37 21 47852034 47852034 + Missense_Mutation SNP G G C TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 21 47852034 47852034 G C SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.8656 p.E2886Q 0.022 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 20 0 0.00 14 7 33.33 65 0 0.00 25 16 39.02 UBXN10 0 genome.wustl.edu 37 1 20517707 20517707 + Missense_Mutation SNP C C A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 1 20517707 20517707 C A SNP UBXN10 ENST00000375099 human ensembl 74_37 +1 known missense c.653 p.T218K 0.962 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,smart_UBX,pfscan_UBX - no_errors UBXN10 HGNC ENSG00000162543 tier1 - - 45 0 0.00 35 5 12.50 119 0 0.00 100 28 21.54 PARP2 0 genome.wustl.edu 37 14 20822373 20822373 + Missense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 14 20822373 20822373 G A SNP PARP2 ENST00000250416 human ensembl 74_37 +1 known missense c.769 p.E257K 1.000 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 tier1 - - 76 0 0.00 68 19 21.84 136 0 0.00 114 24 17.39 SLC22A14 0 genome.wustl.edu 37 3 38357847 38357847 + Missense_Mutation SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 3 38357847 38357847 C T SNP SLC22A14 ENST00000273173 human ensembl 74_37 +1 known missense c.1565 p.S522L 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 tier1 rs114208565 GMAF=0.0005 112 0 0.00 25 12 32.43 35 0 0.00 23 12 32.43 ADAMTS18 0 genome.wustl.edu 37 16 77356258 77356258 + Missense_Mutation SNP T T A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 16 77356258 77356258 T A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2138 p.D713V 0.993 prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 104 0 0.00 33 39 54.17 95 0 0.00 49 66 57.39 NOTCH3 0 genome.wustl.edu 37 19 15281256 15281256 + Missense_Mutation SNP C C G TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 19 15281256 15281256 C G SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.5000 p.R1667P 0.998 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 47 0 0.00 22 9 29.03 20 0 0.00 12 10 45.45 FN1 0 genome.wustl.edu 37 2 216243906 216243906 + Missense_Mutation SNP T T C TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 2 216243906 216243906 T C SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.5569 p.K1857E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 80 0 0.00 25 23 47.92 54 0 0.00 36 30 45.45 STEAP2 0 genome.wustl.edu 37 7 89856742 89856742 + Missense_Mutation SNP T T C TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 7 89856742 89856742 T C SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known missense c.950 p.V317A 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 tier1 - - 87 0 0.00 56 10 15.15 84 0 0.00 58 24 29.27 HDC 0 genome.wustl.edu 37 15 50534531 50534531 + Missense_Mutation SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 15 50534531 50534531 C T SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.1915 p.V639I 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 tier1 - - 117 0 0.00 38 5 11.63 84 0 0.00 64 8 11.11 KIAA1211 0 genome.wustl.edu 37 4 57193907 57193907 + Silent SNP C C A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 4 57193907 57193907 C A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known silent c.3639 p.A1213 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 127 1 0.78 70 30 30.00 68 0 0.00 61 21 25.61 MFSD2A 0 genome.wustl.edu 37 1 40430569 40430569 + R SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 1 40430569 40430569 C T SNP MFSD2A ENST00000480630 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MFSD2A HGNC ENSG00000168389 tier1 - - 67 0 0.00 13 20 60.61 59 0 0.00 16 28 63.64 PIP4K2A 0 genome.wustl.edu 37 10 22825871 22825871 + R SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 10 22825871 22825871 C T SNP PIP4K2A ENST00000474335 human ensembl 74_37 -1 known rna NULL NULL 0.750 - - - no_errors PIP4K2A HGNC ENSG00000150867 tier1 - - 25 0 0.00 1 11 91.67 55 0 0.00 15 39 72.22 MTMR7 0 genome.wustl.edu 37 8 17230662 17230662 + Missense_Mutation SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 8 17230662 17230662 C T SNP MTMR7 ENST00000180173 human ensembl 74_37 -1 known missense c.112 p.V38M 1.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 tier1 - - 106 0 0.00 77 20 20.41 84 0 0.00 66 24 26.67 EPHB6 0 genome.wustl.edu 37 7 142563919 142563919 + Missense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 7 142563919 142563919 G A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.1307 p.R436H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 tier1 - - 87 0 0.00 27 16 37.21 25 0 0.00 21 4 16.00 CAC1D 0 genome.wustl.edu 37 3 53785793 53785793 + Silent SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 3 53785793 53785793 C T SNP CAC1D ENST00000288139 human ensembl 74_37 +1 known silent c.3594 p.Y1198 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CAC1D HGNC ENSG00000157388 tier1 rs148248303 - 80 0 0.00 36 14 28.00 95 0 0.00 73 13 15.12 MROH7-TTC4 0 genome.wustl.edu 37 1 55139736 55139736 + Missense_Mutation SNP C C G TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 1 55139736 55139736 C G SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.1848 p.I616M 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 - - 98 0 0.00 27 8 22.86 60 1 1.64 34 20 37.04 LRRK2 0 genome.wustl.edu 37 12 40714915 40714915 + Missense_Mutation SNP T T A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 12 40714915 40714915 T A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5095 p.Y1699N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 114 0 0.00 30 35 53.85 65 0 0.00 25 34 57.63 LRRK2 0 genome.wustl.edu 37 12 40714914 40714914 + Frame_Shift_Del DEL T T - TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 12 40714914 40714914 T - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.5094 p.Y1699fs 0.822 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 113 0 0.00 33 32 49.23 65 0 0.00 28 31 52.54 APC2 0 genome.wustl.edu 37 9 140080911 140080912 + R DEL CA CA - TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 CA CA CA - CA CA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 9 140080911 140080912 CA - DEL APC2 ENST00000495611 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors APC2 HGNC ENSG00000176248 tier1 28 0 0.00 7 2 22.22 31 0 0.00 18 2 10.00 ANKLE2 0 genome.wustl.edu 37 12 133313590 133313590 + Silent SNP C C A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 12 133313590 133313590 C A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.1482 p.L494 0.999 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 tier1 - - 43 0 0.00 12 14 53.85 25 0 0.00 7 16 69.57 ANXA8L2 0 genome.wustl.edu 37 10 47754779 47754779 + Missense_Mutation SNP G G A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 10 47754779 47754779 G A SNP ANXA8L2 ENST00000374277 human ensembl 74_37 +1 known missense c.386 p.R129Q 0.524 pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinIII pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVIII,prints_AnnexinIII - no_errors ANXA8L2 HGNC ENSG00000186807 tier1 - - 82 0 0.00 8 11 57.89 16 0 0.00 4 4 50.00 SYCP2 0 genome.wustl.edu 37 20 58476847 58476847 + Missense_Mutation SNP A A G TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 20 58476847 58476847 A G SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.1052 p.L351P 0.996 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 86 0 0.00 4 27 87.10 46 0 0.00 6 30 81.08 SYCP2 0 genome.wustl.edu 37 20 58496452 58496452 + Missense_Mutation SNP T T A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 20 58496452 58496452 T A SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.81 p.K27N 0.064 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 75 0 0.00 12 51 79.69 67 0 0.00 7 58 89.23 ZSWIM5 0 genome.wustl.edu 37 1 45671800 45671800 + Missense_Mutation SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 1 45671800 45671800 C T SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.223 p.E75K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 tier1 - - 59 0 0.00 32 19 37.25 13 0 0.00 6 4 40.00 MYH11 0 genome.wustl.edu 37 16 15850274 15850274 + Missense_Mutation SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 16 15850274 15850274 C T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.1694 p.G565D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 tier1 - - 141 0 0.00 72 10 12.05 59 0 0.00 73 8 9.88 CFDP1 0 genome.wustl.edu 37 16 75327731 75327732 + R INS - - A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 16 75327731 75327732 - A INS CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.904:0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 tier1 48 0 0.00 61 6 8.96 98 1 1.01 114 6 5.00 GPR25 0 genome.wustl.edu 37 1 200842925 200842925 + Missense_Mutation SNP G G T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 1 200842925 200842925 G T SNP GPR25 ENST00000304244 human ensembl 74_37 +1 known missense c.760 p.V254L 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR25 HGNC ENSG00000170128 tier1 - - 117 0 0.00 39 4 9.30 13 0 0.00 5 0 0.00 LAMA5 0 genome.wustl.edu 37 20 60905970 60905970 + Frame_Shift_Del DEL C C - TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 20 60905970 60905970 C - DEL LAMA5 ENST00000252999 human ensembl 74_37 -1 known frame_shift_del c.3681 p.K1227fs 1.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 79 0 0.00 16 2 11.11 6 0 0.00 3 0 0.00 SLC35A4 0 genome.wustl.edu 37 5 139947189 139947191 + In_Frame_Del DEL GCT GCT - TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 5 139947189 139947191 GCT - DEL SLC35A4 ENST00000323146 human ensembl 74_37 +1 known in_frame_del c.435_437 p.L149in_frame_del 0.375:0.638:0.998 pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 tier1 47 0 0.00 7 2 22.22 13 0 0.00 3 0 0.00 UCKL1 0 genome.wustl.edu 37 20 62587648 62587648 + Silent SNP C C T TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 20 62587648 62587648 C T SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known silent c.78 p.R26 0.005 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 tier1 - - 104 0 0.00 34 4 10.53 13 0 0.00 5 0 0.00 FAM230A 0 genome.wustl.edu 37 22 20709420 20709420 + Missense_Mutation SNP C C G TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 22 20709420 20709420 C G SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.1152 p.N384K 0.000 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 111 1 0.89 79 7 8.14 1 0 0.00 0 0 0.00 KDM4B 0 genome.wustl.edu 37 19 5077423 5077423 + Missense_Mutation SNP A A C TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 19 5077423 5077423 A C SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.722 p.H241P 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 116 0 0.00 116 14 10.77 36 0 0.00 49 2 3.92 SLC25A2 0 genome.wustl.edu 37 5 140683011 140683011 + Missense_Mutation SNP T T C TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40187452-3e55-49e2-a541-e272da5ea58f fc27b823-1add-40bb-9e0b-49f2e340b162 5 140683011 140683011 T C SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known missense c.422 p.E141G 0.891 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 tier1 - - 76 0 0.00 33 7 17.50 67 0 0.00 46 2 4.17