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 ALOX12B 0 genome.wustl.edu 37 17 7980435 7980435 + Missense_Mutation SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 17 7980435 7980435 G A SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1148 p.T383M 0.987 pfam_LipOase_C,superfamily_LipOase_C,prints_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_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 tier1 - - 41 0 0.00 24 21 46.67 82 0 0.00 54 29 34.94 C1orf101 0 genome.wustl.edu 37 1 244780873 244780873 + Missense_Mutation SNP G G C TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 244780873 244780873 G C SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known missense c.2080 p.D694H 1.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 tier1 - - 19 0 0.00 65 22 25.29 108 0 0.00 174 29 14.29 XIRP2 0 genome.wustl.edu 37 2 168108282 168108282 + Silent SNP T T C TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 2 168108282 168108282 T C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.10380 p.D3460 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 18 0 0.00 8 8 50.00 81 0 0.00 42 29 40.28 DDR2 0 genome.wustl.edu 37 1 162735847 162735847 + Missense_Mutation SNP A A G TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 162735847 162735847 A G SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.1156 p.T386A 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 tier1 - - 27 0 0.00 22 18 45.00 110 0 0.00 41 47 53.41 PTPRQ 0 genome.wustl.edu 37 12 81025993 81025993 + Silent SNP C C T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 12 81025993 81025993 C T SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known silent c.5697 p.T1899 0.998 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 rs138300863 GMAF=0.0005 36 0 0.00 730 144 16.48 79 0 0.00 2092 421 16.67 ALG2 0 genome.wustl.edu 37 9 101980657 101980657 + Nonsense_Mutation SNP A A T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 9 101980657 101980657 A T SNP ALG2 ENST00000476832 human ensembl 74_37 -1 known nonsense c.810 p.Y270* 1.000 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors ALG2 HGNC ENSG00000119523 tier1 - - 42 0 0.00 24 12 33.33 106 0 0.00 58 35 37.23 OBP2B 0 genome.wustl.edu 37 9 136080786 136080786 + R SNP G G C TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 9 136080786 136080786 G C SNP OBP2B ENST00000461961 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors OBP2B HGNC ENSG00000171102 tier1 - - 62 0 0.00 20 23 53.49 44 0 0.00 23 18 43.90 OR51I2 0 genome.wustl.edu 37 11 5474866 5474866 + Nonsense_Mutation SNP C C T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 11 5474866 5474866 C T SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known nonsense c.148 p.R50* 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I2 HGNC ENSG00000187918 tier1 rs145725236 GMAF=0.0005 37 0 0.00 53 5 8.62 45 0 0.00 19 3 13.64 TRIOBP 0 genome.wustl.edu 37 22 38131066 38131066 + Missense_Mutation SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 22 38131066 38131066 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.4723 p.A1575T 0.040 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 35 0 0.00 14 10 41.67 24 0 0.00 13 12 48.00 RNF113A 0 genome.wustl.edu 37 X 119005266 119005266 + Missense_Mutation SNP C C T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c X 119005266 119005266 C T SNP RNF113A ENST00000371442 human ensembl 74_37 -1 known missense c.311 p.R104H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 tier1 - - 27 0 0.00 22 10 31.25 88 0 0.00 61 28 31.46 IGSF1 0 genome.wustl.edu 37 X 130419397 130419397 + Silent SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c X 130419397 130419397 G A SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.423 p.P141 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 11 0 0.00 4 5 55.56 44 0 0.00 47 31 39.74 MBL2 0 genome.wustl.edu 37 10 54530489 54530489 + Missense_Mutation SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 10 54530489 54530489 G A SNP MBL2 ENST00000373968 human ensembl 74_37 -1 known missense c.245 p.P82L 0.910 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 tier1 - - 43 0 0.00 34 22 39.29 113 0 0.00 59 48 44.86 KRT1 0 genome.wustl.edu 37 12 53072523 53072523 + Missense_Mutation SNP C C A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 12 53072523 53072523 C A SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.609 p.Q203H 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 tier1 - - 31 0 0.00 33 20 37.74 110 0 0.00 77 48 38.40 NSUN6 0 genome.wustl.edu 37 10 18874990 18874990 + Missense_Mutation SNP G G C TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 10 18874990 18874990 G C SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known missense c.810 p.N270K 0.230 pfam_Fmu/NOL1/Nop2p,pfam_rR_MeTrfase_FtsJ_dom pfam_Fmu/NOL1/Nop2p,pfam_rR_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 tier1 - - 42 0 0.00 38 13 25.49 90 0 0.00 84 11 11.46 AMY2B 0 genome.wustl.edu 37 1 104116343 104116343 + Missense_Mutation SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 104116343 104116343 G A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.527 p.R176H 0.991 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 rs144281226 GMAF=0.0005 209 0 0.00 167 79 32.11 60 0 0.00 41 12 22.64 IL12RB2 0 genome.wustl.edu 37 1 67804363 67804363 + Missense_Mutation SNP C C A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 67804363 67804363 C A SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.1015 p.Q339K 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 tier1 - - 27 0 0.00 13 21 61.76 94 0 0.00 41 26 38.81 ITGA7 0 genome.wustl.edu 37 12 56081767 56081767 + Silent SNP C C T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 12 56081767 56081767 C T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known silent c.3303 p.L1101 0.999 prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 tier1 - - 36 0 0.00 26 14 35.00 92 0 0.00 47 43 47.25 SLAMF6 0 genome.wustl.edu 37 1 160460928 160460928 + Missense_Mutation SNP C C G TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 160460928 160460928 C G SNP SLAMF6 ENST00000368057 human ensembl 74_37 -1 known missense c.633 p.Q211H 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SLAMF6 HGNC ENSG00000162739 tier1 - - 44 0 0.00 32 11 25.58 44 0 0.00 27 12 30.77 ABCA13 0 genome.wustl.edu 37 7 48556449 48556449 + Missense_Mutation SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 7 48556449 48556449 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.13769 p.R4590Q 0.054 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 68 0 0.00 60 40 40.00 88 0 0.00 74 49 39.84 LUZP2 0 genome.wustl.edu 37 11 25071591 25071591 + Missense_Mutation SNP A A G TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 11 25071591 25071591 A G SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.773 p.Q258R 0.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 38 0 0.00 12 24 66.67 89 0 0.00 11 37 77.08 DMAP1 0 genome.wustl.edu 37 1 44686023 44686023 + R SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 44686023 44686023 G A SNP DMAP1 ENST00000494092 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DMAP1 HGNC ENSG00000178028 tier1 - - 19 0 0.00 14 6 30.00 23 0 0.00 25 12 32.43 S100A5 0 genome.wustl.edu 37 1 153512667 153512667 + Missense_Mutation SNP T T C TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 153512667 153512667 T C SNP S100A5 ENST00000359215 human ensembl 74_37 -1 known missense c.55 p.M19V 0.722 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100A5 HGNC ENSG00000196420 tier1 - - 47 0 0.00 38 23 37.70 89 0 0.00 47 11 18.97 TBC1D9B 0 genome.wustl.edu 37 5 179300189 179300189 + Missense_Mutation SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 5 179300189 179300189 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.2246 p.A749V 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 tier1 - - 29 0 0.00 10 16 61.54 48 0 0.00 36 35 49.30 XPOT 0 genome.wustl.edu 37 12 64823969 64823969 + Missense_Mutation SNP G G T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 12 64823969 64823969 G T SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.1878 p.E626D 0.996 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 tier1 - - 34 0 0.00 23 20 45.45 85 0 0.00 34 30 46.88 ADAM33 0 genome.wustl.edu 37 20 3652874 3652874 + Missense_Mutation SNP G G C TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 20 3652874 3652874 G C SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.1504 p.L502V 0.998 superfamily_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 tier1 - - 41 0 0.00 34 16 32.00 84 0 0.00 42 30 41.67 ZFAS1 0 genome.wustl.edu 37 20 47895155 47895155 + R SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 20 47895155 47895155 G A SNP ZFAS1 ENST00000371743 human ensembl 74_37 +1 known rna NULL NULL 0.537 - - - no_errors ZFAS1 HGNC ENSG00000177410 tier1 - - 64 0 0.00 22 22 50.00 69 0 0.00 59 42 41.18 SMG6 0 genome.wustl.edu 37 17 2203218 2203218 + Nonsense_Mutation SNP C C A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 17 2203218 2203218 C A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known nonsense c.829 p.G277* 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 59 0 0.00 33 34 50.75 55 0 0.00 26 23 46.94 GPRIN3 0 genome.wustl.edu 37 4 90170621 90170621 + Missense_Mutation SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 4 90170621 90170621 G A SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.641 p.S214F 0.001 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 tier1 - - 54 0 0.00 27 10 27.03 91 0 0.00 43 37 45.68 FAM151A 0 genome.wustl.edu 37 1 55077385 55077385 + Missense_Mutation SNP G G C TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 55077385 55077385 G C SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known missense c.834 p.D278E 0.997 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 tier1 - - 29 0 0.00 24 12 33.33 51 0 0.00 21 25 54.35 NKAIN2 0 genome.wustl.edu 37 6 124979412 124979412 + Silent SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 6 124979412 124979412 G A SNP NKAIN2 ENST00000368417 human ensembl 74_37 +1 known silent c.354 p.T118 0.436 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 tier1 rs142736368 - 37 0 0.00 37 17 31.48 60 0 0.00 36 18 33.33 ENSG00000245482 0 genome.wustl.edu 37 12 34175490 34175490 + R SNP A A T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 12 34175490 34175490 A T SNP ENSG00000245482 ENST00000501954 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-847H18.2 Clone_based_vega_gene ENSG00000245482 tier1 - - 97 0 0.00 54 43 44.33 86 0 0.00 34 33 49.25 LINC00115 0 genome.wustl.edu 37 1 762305 762306 + R INS - - AG TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 - - - AG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 762305 762306 - AG INS LINC00115 ENST00000473798 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.002 - - - no_errors LINC00115 HGNC ENSG00000225880 tier1 76 0 0.00 49 36 42.35 36 0 0.00 29 21 42.00 TEX15 0 genome.wustl.edu 37 8 30694789 30694789 + Frame_Shift_Del DEL T T - TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 8 30694789 30694789 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.7862 p.N2621fs 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 37 0 0.00 33 12 26.67 68 0 0.00 35 28 44.44 CEP350 0 genome.wustl.edu 37 1 179989287 179989287 + Frame_Shift_Del DEL C C - TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 1 179989287 179989287 C - DEL CEP350 ENST00000367607 human ensembl 74_37 +1 known frame_shift_del c.2378 p.T793fs 0.983 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 12 0 0.00 9 12 57.14 89 0 0.00 20 47 70.15 CPT1A 0 genome.wustl.edu 37 11 68529106 68529106 + Missense_Mutation SNP T T A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 11 68529106 68529106 T A SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.1925 p.H642L 0.004 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 tier1 - - 44 0 0.00 14 34 70.83 70 0 0.00 7 26 78.79 FUT1 0 genome.wustl.edu 37 19 49253926 49253926 + Missense_Mutation SNP C C T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 19 49253926 49253926 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.613 p.G205S 0.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 tier1 - - 14 0 0.00 3 8 72.73 16 0 0.00 4 10 71.43 GRID1 0 genome.wustl.edu 37 10 87362184 87362184 + Missense_Mutation SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 10 87362184 87362184 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.2876 p.A959V 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 24 0 0.00 38 23 37.70 24 0 0.00 7 5 41.67 NLRP14 0 genome.wustl.edu 37 11 7092514 7092514 + Missense_Mutation SNP A A G TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 11 7092514 7092514 A G SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.3257 p.D1086G 0.566 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 tier1 - - 51 0 0.00 12 21 63.64 48 0 0.00 7 11 61.11 ZNF761 0 genome.wustl.edu 37 19 53959188 53959188 + R SNP G G A TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 19 53959188 53959188 G A SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF761 HGNC ENSG00000160336 tier1 rs144532705 - 34 0 0.00 18 49 73.13 6 0 0.00 1 2 66.67 ATXN7L1 0 genome.wustl.edu 37 7 105278824 105278824 + Missense_Mutation SNP C C T TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 7 105278824 105278824 C T SNP ATXN7L1 ENST00000419735 human ensembl 74_37 -1 known missense c.1178 p.R393K 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 tier1 - - 40 0 0.00 50 6 10.71 142 0 0.00 127 9 6.62 TMEM59L 0 genome.wustl.edu 37 19 18729058 18729058 + Missense_Mutation SNP A A G TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 19 18729058 18729058 A G SNP TMEM59L ENST00000262817 human ensembl 74_37 +1 known missense c.758 p.N253S 0.870 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 tier1 - - 33 0 0.00 26 21 44.68 36 1 2.70 36 22 37.93 AMZ1 0 genome.wustl.edu 37 7 2741864 2741918 + R DEL TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG - TCGA-DX-A2J0-01A-11D-A21Q-09 TCGA-DX-A2J0-10A-01D-A21Q-09 TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb783f8b-d092-4104-b809-3f90b19df7df eadfba85-5283-41ea-a71a-dc89ac1bab4c 7 2741864 2741918 TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG - DEL AMZ1 ENST00000485540 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.003:0.002:0.002:0.002:0.003:0.003:0.001:0.005:0.071:0.077:0.080:0.076:0.071:0.067:0.056:0.014:0.004:0.001:0.002:0.002:0.000:0.001:0.002:0.003:0.004:0.005:0.002:0.002:0.002:0.002:0.002:0.002:0.003:0.000:0.001:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000 - - - no_errors AMZ1 HGNC ENSG00000174945 tier1 0 0 0.00 5 0 0.00 0 0 0.00 5 0 0.00