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 MAGEA11 0 genome.wustl.edu 37 X 148798425 148798425 + Missense_Mutation SNP G G A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 X 148798425 148798425 G A SNP MAGEA11 ENST00000355220 human ensembl 74_37 +1 known missense c.1279 p.E427K 0.015 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 tier1 - - 43 0 0.00 30 26 46.43 77 0 0.00 51 30 37.04 KIAA1919 0 genome.wustl.edu 37 6 111587229 111587229 + Missense_Mutation SNP A A T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 6 111587229 111587229 A T SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.464 p.E155V 0.273 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 24 0 0.00 1 7 87.50 100 0 0.00 50 48 48.98 PVRL3 0 genome.wustl.edu 37 3 110911220 110911220 + Missense_Mutation SNP C C T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 3 110911220 110911220 C T SNP PVRL3 ENST00000493615 human ensembl 74_37 +1 putative missense c.1244 p.T415I 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 tier1 - - 45 0 0.00 23 20 46.51 91 0 0.00 57 41 41.84 SPO11 0 genome.wustl.edu 37 20 55917803 55917803 + Missense_Mutation SNP T T A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 20 55917803 55917803 T A SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known missense c.978 p.D326E 0.991 superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11 pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 tier1 - - 13 0 0.00 14 16 53.33 129 0 0.00 70 69 49.64 PSME4 0 genome.wustl.edu 37 2 54176323 54176323 + Missense_Mutation SNP T T C TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 2 54176323 54176323 T C SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.340 p.S114G 1.000 NULL pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 - - 26 0 0.00 16 22 57.89 120 0 0.00 56 54 49.09 OR52W1 0 genome.wustl.edu 37 11 6221371 6221371 + Silent SNP A A G TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 11 6221371 6221371 A G SNP OR52W1 ENST00000311352 human ensembl 74_37 +1 known silent c.918 p.R306 0.072 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 tier1 - - 44 0 0.00 18 21 53.85 146 0 0.00 53 52 49.52 IK 0 genome.wustl.edu 37 5 140038905 140038905 + Missense_Mutation SNP G G T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 5 140038905 140038905 G T SNP IK ENST00000417647 human ensembl 74_37 +1 known missense c.1182 p.M394I 0.990 NULL pfam_RED_N,pfam_RED_C - no_errors IK HGNC ENSG00000113141 tier1 - - 34 0 0.00 23 23 50.00 119 0 0.00 73 50 40.65 DH17 0 genome.wustl.edu 37 17 76503585 76503585 + Silent SNP G G A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 17 76503585 76503585 G A SNP DH17 ENST00000389840 human ensembl 74_37 -1 known silent c.4527 p.L1509 0.970 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DH17 HGNC ENSG00000187775 tier1 - - 40 0 0.00 15 16 51.61 57 0 0.00 41 42 50.60 ENSG00000244227 0 genome.wustl.edu 37 3 167630632 167630632 + R SNP A A T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 3 167630632 167630632 A T SNP ENSG00000244227 ENST00000459923 human ensembl 74_37 +1 known rna NULL NULL 0.937 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000244227 tier1 - - 77 0 0.00 68 56 45.16 76 0 0.00 42 38 47.50 PRRT3 0 genome.wustl.edu 37 3 9990873 9990873 + Missense_Mutation SNP C C A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 3 9990873 9990873 C A SNP PRRT3 ENST00000295984 human ensembl 74_37 -1 known missense c.927 p.Q309H 0.010 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 tier1 - - 11 0 0.00 12 14 53.85 36 0 0.00 26 4 13.33 CTTN 0 genome.wustl.edu 37 11 70269070 70269070 + Missense_Mutation SNP A A G TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 11 70269070 70269070 A G SNP CTTN ENST00000301843 human ensembl 74_37 +1 known missense c.926 p.K309R 0.997 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 tier1 - - 99 0 0.00 40 38 48.72 110 0 0.00 48 30 38.46 AP3D1 0 genome.wustl.edu 37 19 2117232 2117232 + Silent SNP T T A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 19 2117232 2117232 T A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known silent c.1848 p.P616 0.403 superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 tier1 - - 36 0 0.00 5 13 72.22 92 0 0.00 60 30 33.33 DCHS2 0 genome.wustl.edu 37 4 155253963 155253963 + Missense_Mutation SNP A A G TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 4 155253963 155253963 A G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1900 p.F634L 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 33 0 0.00 19 15 44.12 52 0 0.00 26 30 53.57 CDHR3 0 genome.wustl.edu 37 7 105671282 105671282 + Missense_Mutation SNP T T A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 7 105671282 105671282 T A SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.2349 p.D783E 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 tier1 - - 60 0 0.00 47 32 40.51 89 0 0.00 50 25 33.33 PLCG1 0 genome.wustl.edu 37 20 39792474 39792474 + Splice_Site SNP G G T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 20 39792474 39792474 G T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known splice_site c.1010+1 e10+1 1.000 - - - no_errors PLCG1 HGNC ENSG00000124181 tier1 - - 53 0 0.00 46 36 43.90 86 0 0.00 73 40 35.40 SEPT14 0 genome.wustl.edu 37 7 55910726 55910726 + Missense_Mutation SNP G G T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 7 55910726 55910726 G T SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.467 p.S156Y 0.994 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 tier1 - - 37 0 0.00 10 10 50.00 120 0 0.00 69 48 41.03 HUWE1 0 genome.wustl.edu 37 X 53620560 53620560 + Missense_Mutation SNP T T C TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 X 53620560 53620560 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.3505 p.T1169A 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 27 0 0.00 16 11 40.74 82 0 0.00 53 31 36.90 HMGCS1 0 genome.wustl.edu 37 5 43293070 43293070 + Missense_Mutation SNP C C A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 5 43293070 43293070 C A SNP HMGCS1 ENST00000325110 human ensembl 74_37 -1 known missense c.1189 p.A397S 1.000 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS1 HGNC ENSG00000112972 tier1 - - 16 0 0.00 5 12 70.59 93 0 0.00 57 41 41.84 WDR78 0 genome.wustl.edu 37 1 67301325 67301325 + Missense_Mutation SNP G G A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 1 67301325 67301325 G A SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known missense c.1717 p.P573S 0.425 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 tier1 - - 32 0 0.00 12 6 33.33 89 0 0.00 53 51 49.04 SLC15A5 0 genome.wustl.edu 37 12 16392642 16392650 + In_Frame_Del DEL CTCTCTTAG CTCTCTTAG - TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 CTCTCTTAG CTCTCTTAG CTCTCTTAG - CTCTCTTAG CTCTCTTAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 12 16392642 16392650 CTCTCTTAG - DEL SLC15A5 ENST00000344941 human ensembl 74_37 -1 novel in_frame_del c.1135_1127 p.SKRV376in_frame_delF 0.139:0.131:0.134:0.147:0.147:0.137:0.102:0.054:0.068 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 tier1 90 0 0.00 65 14 17.72 90 0 0.00 65 14 17.72 AKD1 0 genome.wustl.edu 37 1 109394814 109394816 + In_Frame_Del DEL TTC TTC - TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 TTC TTC TTC - TTC TTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 1 109394814 109394816 TTC - DEL AKD1 ENST00000370001 human ensembl 74_37 -1 known in_frame_del c.473_471 p.K157in_frame_del 0.000:0.009:0.013 NULL pfam_TF_AT-hook - no_errors AKD1 HGNC ENSG00000162641 tier1 8 0 0.00 11 4 26.67 101 0 0.00 50 37 42.53 ALOX15B 0 genome.wustl.edu 37 17 7945777 7945777 + Missense_Mutation SNP G G T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 17 7945777 7945777 G T SNP ALOX15B ENST00000380183 human ensembl 74_37 +1 known missense c.540 p.K180N 0.878 superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 tier1 - - 17 0 0.00 1 9 90.00 89 0 0.00 9 54 85.71 FAM83B 0 genome.wustl.edu 37 6 54805246 54805246 + Missense_Mutation SNP C C T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 6 54805246 54805246 C T SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.1477 p.R493C 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 tier1 - - 28 0 0.00 3 21 87.50 172 0 0.00 9 78 89.66 KRT32 0 genome.wustl.edu 37 17 39619137 39619137 + Silent SNP G G T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 17 39619137 39619137 G T SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known silent c.1162 p.R388 0.999 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 tier1 - - 39 0 0.00 21 26 55.32 8 0 0.00 7 7 50.00 SMCHD1 0 genome.wustl.edu 37 18 2656092 2656092 + Silent SNP C C T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 18 2656092 2656092 C T SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known silent c.18 p.G6 0.917 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 34 0 0.00 17 18 47.37 10 0 0.00 9 6 40.00 TP53 0 genome.wustl.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 17 7577568 7577568 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.713 p.C238Y 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 - - 53 0 0.00 0 16 100.00 66 0 0.00 5 44 89.80 ANP32BP1 0 genome.wustl.edu 37 15 75614887 75614887 + R SNP G G A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 15 75614887 75614887 G A SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 42 0 0.00 29 18 38.30 5 0 0.00 7 0 0.00 SRC 0 genome.wustl.edu 37 20 36032316 36032316 + R SNP C C T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 20 36032316 36032316 C T SNP SRC ENST00000477066 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors SRC HGNC ENSG00000197122 tier1 - - 31 0 0.00 36 17 32.08 17 0 0.00 9 0 0.00 CYP2A6 0 genome.wustl.edu 37 19 41354534 41354534 + Missense_Mutation SNP G G T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 19 41354534 41354534 G T SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known missense c.478 p.L160I 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 tier1 rs60563539 - 66 0 0.00 52 7 11.86 0 0 0.00 0 0 0.00 DNM1P46 0 genome.wustl.edu 37 15 100340305 100340305 + R SNP T T A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 15 100340305 100340305 T A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 - - 46 0 0.00 37 4 9.76 0 0 0.00 0 0 0.00 ENSG00000221492 0 genome.wustl.edu 37 1 51656628 51656629 + R INS - - A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 1 51656628 51656629 - A INS ENSG00000221492 ENST00000408565 human ensembl 74_37 +1 novel rna NULL NULL 0.273:0.275 - - - no_errors AL162430.1 Clone_based_ensembl_gene ENSG00000221492 tier1 30 0 0.00 16 14 46.67 0 0 0.00 0 0 0.00 KCP 0 genome.wustl.edu 37 7 128547390 128547390 + R SNP G G A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 7 128547390 128547390 G A SNP KCP ENST00000297801 human ensembl 74_37 -1 known rna NULL NULL 0.180 - - - no_errors KCP HGNC ENSG00000135253 tier1 - - 16 0 0.00 11 9 45.00 4 0 0.00 0 1 100.00 DLGAP1 0 genome.wustl.edu 37 18 3729210 3729210 + Missense_Mutation SNP C C T TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 18 3729210 3729210 C T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.1516 p.D506N 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 43 0 0.00 38 41 51.90 4 0 0.00 8 8 50.00 ATXN1L 0 genome.wustl.edu 37 16 71884767 71884768 + Frame_Shift_Ins INS - - G TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e554430-e3c5-4c9b-9681-3e9c0f4236f1 b24e4a7b-236b-4dbe-9b7a-6c8427f8e423 16 71884767 71884768 - G INS ATXN1L ENST00000427980 human ensembl 74_37 +1 known frame_shift_ins c.1124_1125 p.R377fs 1.000:0.993 NULL pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1L HGNC ENSG00000224470 tier1 25 0 0.00 4 13 76.47 99 0 0.00 63 2 3.08