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 PAX9 0 genome.wustl.edu 37 14 37145611 37145611 + Missense_Mutation SNP A A G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 14 37145611 37145611 A G SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.980 p.Q327R 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 tier1 - - 88 0 0.00 49 10 16.95 99 0 0.00 40 18 31.03 OR6X1 0 genome.wustl.edu 37 11 123624968 123624968 + Missense_Mutation SNP T T C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 11 123624968 123624968 T C SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known missense c.259 p.R87G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 tier1 - - 124 0 0.00 49 15 23.44 133 0 0.00 35 9 20.45 TMEM163 0 genome.wustl.edu 37 2 135260492 135260492 + Missense_Mutation SNP T T G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 2 135260492 135260492 T G SNP TMEM163 ENST00000281924 human ensembl 74_37 -1 known missense c.535 p.T179P 0.932 NULL NULL - no_errors TMEM163 HGNC ENSG00000152128 tier1 - - 161 0 0.00 76 17 18.28 151 0 0.00 75 44 36.97 CARM1P1 0 genome.wustl.edu 37 9 2943570 2943570 + R SNP A A T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 9 2943570 2943570 A T SNP CARM1P1 ENST00000492533 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CARM1P1 HGNC ENSG00000227835 tier1 - - 151 0 0.00 50 25 32.89 112 0 0.00 72 26 26.53 TMEM67 0 genome.wustl.edu 37 8 94827670 94827670 + Missense_Mutation SNP C C G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 8 94827670 94827670 C G SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.2902 p.Q968E 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 tier1 - - 86 0 0.00 48 21 30.43 50 0 0.00 93 17 15.32 DH2 0 genome.wustl.edu 37 17 7644169 7644169 + Nonsense_Mutation SNP C C G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 17 7644169 7644169 C G SNP DH2 ENST00000389173 human ensembl 74_37 +1 known nonsense c.1548 p.Y516* 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH2 HGNC ENSG00000183914 tier1 - - 77 0 0.00 41 25 37.88 121 0 0.00 58 31 34.83 SFXN1 0 genome.wustl.edu 37 5 174936049 174936049 + Missense_Mutation SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 174936049 174936049 C T SNP SFXN1 ENST00000321442 human ensembl 74_37 +1 known missense c.179 p.P60L 0.203 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN1 HGNC ENSG00000164466 tier1 - - 95 0 0.00 50 10 16.67 75 0 0.00 45 24 34.78 SRPX 0 genome.wustl.edu 37 X 38031204 38031204 + Silent SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 X 38031204 38031204 C T SNP SRPX ENST00000378533 human ensembl 74_37 -1 known silent c.456 p.T152 0.003 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 tier1 - - 83 0 0.00 25 15 37.50 78 0 0.00 22 17 43.59 MUC16 0 genome.wustl.edu 37 19 9084637 9084637 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 19 9084637 9084637 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7178 p.P2393L 0.042 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 113 0 0.00 35 10 22.22 140 0 0.00 66 25 27.47 AGXT2 0 genome.wustl.edu 37 5 35033586 35033586 + Silent SNP A A T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 35033586 35033586 A T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known silent c.654 p.P218 0.300 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 tier1 - - 115 0 0.00 50 14 21.88 127 0 0.00 97 32 24.81 EML5 0 genome.wustl.edu 37 14 89110777 89110777 + Missense_Mutation SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 14 89110777 89110777 C A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.4107 p.E1369D 1.000 pfam_HELP pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 75 0 0.00 46 8 14.81 84 0 0.00 73 21 22.34 CFTR 0 genome.wustl.edu 37 7 117199633 117199633 + Missense_Mutation SNP A A G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 7 117199633 117199633 A G SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.1508 p.K503R 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 96 0 0.00 28 11 28.21 59 0 0.00 29 18 38.30 EPHA7 0 genome.wustl.edu 37 6 94066667 94066667 + Silent SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 6 94066667 94066667 G A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known silent c.1092 p.T364 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_type1,pfam_SAM_2,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 EPHA7 HGNC ENSG00000135333 tier1 rs200560907 - 152 0 0.00 46 9 16.36 127 0 0.00 51 22 30.14 PRLR 0 genome.wustl.edu 37 5 35068325 35068325 + Missense_Mutation SNP A A T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 35068325 35068325 A T SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.848 p.L283Q 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 152 0 0.00 61 22 26.51 103 0 0.00 64 19 22.89 MIR646 0 genome.wustl.edu 37 20 58883614 58883614 + R SNP A A T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 20 58883614 58883614 A T SNP MIR646 ENST00000385067 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR646 HGNC ENSG00000207802 tier1 - - 72 0 0.00 76 7 8.43 36 0 0.00 74 11 12.94 GRIN3A 0 genome.wustl.edu 37 9 104449456 104449456 + Silent SNP T T C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 9 104449456 104449456 T C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known silent c.726 p.L242 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 76 0 0.00 23 7 23.33 78 0 0.00 62 9 12.68 MUC6 0 genome.wustl.edu 37 11 1018666 1018666 + Missense_Mutation SNP G G C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 11 1018666 1018666 G C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.4135 p.Q1379E 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 180 0 0.00 58 27 31.76 152 0 0.00 45 19 29.23 CTRC 0 genome.wustl.edu 37 1 15768968 15768968 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 1 15768968 15768968 G A SNP CTRC ENST00000375949 human ensembl 74_37 +1 known missense c.256 p.V86M 0.336 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTRC HGNC ENSG00000162438 tier1 - - 104 0 0.00 16 42 72.41 127 0 0.00 36 88 70.40 VEZT 0 genome.wustl.edu 37 12 95693942 95693942 + Silent SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 12 95693942 95693942 C T SNP VEZT ENST00000436874 human ensembl 74_37 +1 known silent c.1833 p.A611 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 tier1 - - 150 0 0.00 50 18 26.47 48 0 0.00 30 25 44.64 SEMA3C 0 genome.wustl.edu 37 7 80374308 80374308 + Missense_Mutation SNP C C G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 7 80374308 80374308 C G SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known missense c.2212 p.D738H 0.521 NULL pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 tier1 - - 71 0 0.00 24 15 38.46 99 0 0.00 32 17 34.69 FAT2 0 genome.wustl.edu 37 5 150930375 150930375 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 150930375 150930375 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.4354 p.R1452C 0.053 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 76 0 0.00 27 19 40.43 137 0 0.00 43 16 27.12 SLCO2B1 0 genome.wustl.edu 37 11 74911337 74911337 + Silent SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 11 74911337 74911337 G A SNP SLCO2B1 ENST00000289575 human ensembl 74_37 +1 known silent c.1668 p.T556 0.994 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 tier1 - - 51 0 0.00 6 14 70.00 32 0 0.00 18 9 33.33 GBA 0 genome.wustl.edu 37 1 155205042 155205042 + Silent SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 1 155205042 155205042 C T SNP GBA ENST00000327247 human ensembl 74_37 -1 known silent c.1449 p.L483 1.000 pfam_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 tier1 - - 128 0 0.00 39 17 30.36 76 0 0.00 46 17 26.98 MYH7 0 genome.wustl.edu 37 14 23902315 23902315 + Missense_Mutation SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 14 23902315 23902315 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.323 p.R108H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 116 0 0.00 59 18 23.38 55 0 0.00 20 9 30.00 KIF4A 0 genome.wustl.edu 37 X 69595981 69595981 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 X 69595981 69595981 G A SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.1955 p.R652H 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 tier1 rs35473790 - 78 0 0.00 62 22 26.19 5 0 0.00 14 3 17.65 CD22 0 genome.wustl.edu 37 19 35835957 35835957 + Missense_Mutation SNP G G C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 19 35835957 35835957 G C SNP CD22 ENST00000085219 human ensembl 74_37 +1 known missense c.2136 p.W712C 1.000 NULL pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 tier1 - - 78 0 0.00 40 17 29.82 55 0 0.00 35 7 16.67 TCAIM 0 genome.wustl.edu 37 3 44437985 44437985 + Silent SNP A A G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 3 44437985 44437985 A G SNP TCAIM ENST00000342649 human ensembl 74_37 +1 known silent c.789 p.A263 0.000 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 tier1 - - 73 0 0.00 13 32 71.11 100 0 0.00 13 48 78.69 FAM160A1 0 genome.wustl.edu 37 4 152559829 152559829 + Missense_Mutation SNP C C G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 4 152559829 152559829 C G SNP FAM160A1 ENST00000435205 human ensembl 74_37 +1 known missense c.1147 p.L383V 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 tier1 - - 188 0 0.00 85 27 24.11 87 0 0.00 64 26 28.89 RARS2 0 genome.wustl.edu 37 6 88228563 88228563 + Silent SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 6 88228563 88228563 C A SNP RARS2 ENST00000369536 human ensembl 74_37 -1 known silent c.1284 p.G428 0.651 pfam_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia pfam_Arg-tR-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRsynth_1a_anticodon-bd,superfamily_Arg-tR-synth_N,smart_DALR_anticod-bd,prints_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 tier1 - - 86 0 0.00 14 38 73.08 126 0 0.00 17 52 75.36 KLK9 0 genome.wustl.edu 37 19 51506971 51506971 + Missense_Mutation SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 19 51506971 51506971 C A SNP KLK9 ENST00000250366 human ensembl 74_37 -1 known missense c.592 p.G198C 0.994 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK9 Uniprot_gn ENSG00000269741 tier1 - - 87 0 0.00 56 9 13.85 85 0 0.00 42 13 23.64 ANKRD62 0 genome.wustl.edu 37 18 12115475 12115475 + Silent SNP T T G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 18 12115475 12115475 T G SNP ANKRD62 ENST00000314074 human ensembl 74_37 +1 known silent c.1140 p.P380 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 tier1 - - 107 0 0.00 16 4 20.00 42 0 0.00 15 4 21.05 PIK3R3 0 genome.wustl.edu 37 1 46546420 46546420 + Missense_Mutation SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 1 46546420 46546420 G T SNP PIK3R3 ENST00000540385 human ensembl 74_37 -1 known missense c.247 p.L83I 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 tier1 - - 119 0 0.00 53 16 23.19 97 0 0.00 79 26 24.76 ZNF215 0 genome.wustl.edu 37 11 6977493 6977493 + Missense_Mutation SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 11 6977493 6977493 C A SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.1285 p.H429N 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 tier1 - - 134 0 0.00 46 14 23.33 132 0 0.00 52 26 33.33 DOCK11 0 genome.wustl.edu 37 X 117677515 117677515 + Nonsense_Mutation SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 X 117677515 117677515 C A SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known nonsense c.351 p.Y117* 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 tier1 - - 146 0 0.00 58 96 61.94 69 0 0.00 37 71 65.74 SLC5A10 0 genome.wustl.edu 37 17 18880226 18880226 + Missense_Mutation SNP C C G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 17 18880226 18880226 C G SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.906 p.I302M 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 tier1 - - 72 0 0.00 111 26 18.84 69 0 0.00 96 14 12.73 DDX46 0 genome.wustl.edu 37 5 134106633 134106633 + Missense_Mutation SNP A A G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 134106633 134106633 A G SNP DDX46 ENST00000452510 human ensembl 74_37 +1 known missense c.391 p.K131E 1.000 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 tier1 - - 158 0 0.00 51 25 32.89 59 1 1.67 37 21 36.21 PDE1A 0 genome.wustl.edu 37 2 183106701 183106701 + R SNP T T A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 2 183106701 183106701 T A SNP PDE1A ENST00000482538 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE1A HGNC ENSG00000115252 tier1 - - 110 1 0.90 27 23 46.00 49 0 0.00 47 50 51.55 UNC13C 0 genome.wustl.edu 37 15 54592542 54592542 + Silent SNP T T C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 15 54592542 54592542 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.4239 p.Y1413 0.999 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 107 0 0.00 70 13 15.48 82 0 0.00 83 24 22.43 SNHG16 0 genome.wustl.edu 37 17 74557646 74557646 + R SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 17 74557646 74557646 G A SNP SNHG16 ENST00000591956 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG16 HGNC ENSG00000163597 tier1 - - 135 0 0.00 135 39 22.29 131 0 0.00 141 56 28.43 ANKRD62 0 genome.wustl.edu 37 18 12115472 12115472 + Missense_Mutation SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 18 12115472 12115472 G T SNP ANKRD62 ENST00000314074 human ensembl 74_37 +1 known missense c.1137 p.L379F 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 tier1 - - 102 0 0.00 15 5 25.00 43 0 0.00 15 4 21.05 ENSG00000221295 0 genome.wustl.edu 37 8 43415844 43415844 + R SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 8 43415844 43415844 G T SNP ENSG00000221295 ENST00000408368 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC134698.1 Clone_based_ensembl_gene ENSG00000221295 tier1 - - 173 1 0.57 80 29 26.61 22 0 0.00 21 5 19.23 ZNF488 0 genome.wustl.edu 37 10 48371038 48371038 + Missense_Mutation SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 10 48371038 48371038 G T SNP ZNF488 ENST00000395702 human ensembl 74_37 +1 known missense c.506 p.R169L 0.559 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 tier1 - - 78 0 0.00 24 13 35.14 103 0 0.00 24 31 56.36 SRL 0 genome.wustl.edu 37 16 4257559 4257559 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 16 4257559 4257559 G A SNP SRL ENST00000572111 human ensembl 74_37 -1 known missense c.608 p.A203V 0.000 NULL NULL - no_errors SRL HGNC ENSG00000185739 tier1 - - 77 0 0.00 73 13 15.12 30 0 0.00 29 9 23.68 FREM2 0 genome.wustl.edu 37 13 39438633 39438633 + Missense_Mutation SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 13 39438633 39438633 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.7873 p.R2625C 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 87 0 0.00 39 31 44.29 126 0 0.00 50 43 46.24 TMC6 0 genome.wustl.edu 37 17 76117083 76117083 + Missense_Mutation SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 17 76117083 76117083 C T SNP TMC6 ENST00000589553 human ensembl 74_37 -1 known missense c.865 p.A289T 0.000 NULL NULL - no_errors TMC6 HGNC ENSG00000141524 tier1 - - 137 1 0.72 85 53 38.13 65 0 0.00 76 52 40.62 TNFRSF11B 0 genome.wustl.edu 37 8 119945327 119945327 + Silent SNP T T C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 8 119945327 119945327 T C SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known silent c.243 p.L81 0.845 pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 tier1 - - 51 0 0.00 36 9 20.00 43 0 0.00 22 7 24.14 GAD2 0 genome.wustl.edu 37 10 26518625 26518625 + Silent SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 10 26518625 26518625 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known silent c.759 p.I253 0.538 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 tier1 rs145045666 - 71 0 0.00 17 36 67.92 74 0 0.00 12 31 72.09 CDH12 0 genome.wustl.edu 37 5 21975456 21975456 + Silent SNP T T C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 21975456 21975456 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.270 p.K90 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 566 0 0.00 171 94 35.47 117 0 0.00 31 16 34.04 LOXHD1 0 genome.wustl.edu 37 18 44063558 44063558 + Silent SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 18 44063558 44063558 G A SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known silent c.6147 p.Y2049 0.057 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 104 0 0.00 53 19 26.39 67 0 0.00 33 12 26.67 ESR2 0 genome.wustl.edu 37 14 64724010 64724010 + Missense_Mutation SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 14 64724010 64724010 C T SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.1025 p.G342E 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 tier1 - - 88 0 0.00 28 20 41.67 95 0 0.00 61 27 30.68 GAR1 0 genome.wustl.edu 37 4 110743600 110743600 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 4 110743600 110743600 G A SNP GAR1 ENST00000226796 human ensembl 74_37 +1 known missense c.527 p.R176Q 0.692 pfam_H/ACA_rnp_Gar1/Naf1 pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel - no_errors GAR1 HGNC ENSG00000109534 tier1 - - 88 0 0.00 49 22 30.99 119 0 0.00 41 15 26.79 CCL3 0 genome.wustl.edu 37 17 34416094 34416094 + Missense_Mutation SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 17 34416094 34416094 C T SNP CCL3 ENST00000225245 human ensembl 74_37 -1 known missense c.203 p.R68Q 0.587 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL3 HGNC ENSG00000006075 tier1 - - 369 0 0.00 191 31 13.96 13 0 0.00 11 5 31.25 TSGA10 0 genome.wustl.edu 37 2 99726018 99726018 + R SNP A A T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 2 99726018 99726018 A T SNP TSGA10 ENST00000471174 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 73 0 0.00 53 12 18.46 39 0 0.00 61 17 21.79 IL25 0 genome.wustl.edu 37 14 23844881 23844881 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 14 23844881 23844881 G A SNP IL25 ENST00000329715 human ensembl 74_37 +1 known missense c.326 p.R109H 0.940 pfam_IL-17_fam pfam_IL-17_fam - no_errors IL25 HGNC ENSG00000166090 tier1 - - 103 0 0.00 59 14 19.18 65 0 0.00 23 8 25.81 RAB3GAP2 0 genome.wustl.edu 37 1 220355632 220355632 + Missense_Mutation SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 1 220355632 220355632 C A SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.2277 p.L759F 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 tier1 - - 72 0 0.00 8 22 73.33 130 1 0.75 21 48 69.57 ENSG00000215022 0 genome.wustl.edu 37 6 13281385 13281385 + R SNP G G C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 6 13281385 13281385 G C SNP ENSG00000215022 ENST00000606150 human ensembl 74_37 -1 known rna NULL NULL 0.308 - - - no_errors RP1-257A7.4 Clone_based_vega_gene ENSG00000215022 tier1 - - 55 0 0.00 15 10 40.00 121 0 0.00 64 18 21.95 CXCL14 0 genome.wustl.edu 37 5 134907552 134907552 + Nonsense_Mutation SNP G G C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 134907552 134907552 G C SNP CXCL14 ENST00000337225 human ensembl 74_37 -1 known nonsense c.327 p.Y109* 0.998 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom - no_errors CXCL14 HGNC ENSG00000145824 tier1 - - 97 0 0.00 32 10 23.81 70 0 0.00 33 14 29.79 RPS13 0 genome.wustl.edu 37 11 17099248 17099248 + R SNP C C G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 11 17099248 17099248 C G SNP RPS13 ENST00000526895 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RPS13 HGNC ENSG00000110700 tier1 - - 47 0 0.00 24 9 27.27 47 0 0.00 13 12 48.00 SCO1 0 genome.wustl.edu 37 17 10590121 10590121 + Missense_Mutation SNP C C G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 17 10590121 10590121 C G SNP SCO1 ENST00000255390 human ensembl 74_37 -1 known missense c.694 p.E232Q 0.616 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO1 HGNC ENSG00000133028 tier1 - - 72 0 0.00 95 9 8.65 96 0 0.00 90 20 18.18 SPAM1 0 genome.wustl.edu 37 7 123594537 123594537 + Missense_Mutation SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 7 123594537 123594537 C T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.913 p.R305C 0.999 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 tier1 - - 125 0 0.00 27 25 48.08 123 0 0.00 29 19 39.58 ATP8A2 0 genome.wustl.edu 37 13 26436460 26436460 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 13 26436460 26436460 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.3097 p.G1033R 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 tier1 - - 132 0 0.00 99 26 20.80 110 0 0.00 92 27 22.50 LRP2 0 genome.wustl.edu 37 2 170012824 170012824 + Silent SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 2 170012824 170012824 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.12111 p.T4037 0.070 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 189 0 0.00 91 17 15.74 142 0 0.00 88 34 27.87 SNHG16 0 genome.wustl.edu 37 17 74557433 74557433 + R SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 17 74557433 74557433 G A SNP SNHG16 ENST00000448136 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG16 HGNC ENSG00000163597 tier1 - - 72 0 0.00 66 20 23.26 185 0 0.00 113 44 27.85 HAVCR2 0 genome.wustl.edu 37 5 156533780 156533780 + Silent SNP T T C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 156533780 156533780 T C SNP HAVCR2 ENST00000307851 human ensembl 74_37 -1 known silent c.252 p.L84 0.671 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR2 HGNC ENSG00000135077 tier1 - - 107 0 0.00 38 18 32.14 135 0 0.00 47 22 31.88 CHD5 0 genome.wustl.edu 37 1 6195407 6195407 + Missense_Mutation SNP T T A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 1 6195407 6195407 T A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.2753 p.K918M 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 60 0 0.00 49 19 27.94 65 0 0.00 27 11 28.95 TECTA 0 genome.wustl.edu 37 11 121061441 121061441 + Missense_Mutation SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 11 121061441 121061441 G T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.6394 p.V2132F 0.984 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 111 0 0.00 19 19 50.00 74 0 0.00 23 20 46.51 ENSG00000214581 0 genome.wustl.edu 37 16 34681870 34681870 + R SNP A A T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 16 34681870 34681870 A T SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 32 0 0.00 23 10 30.30 55 0 0.00 65 20 23.53 ENSG00000272667 0 genome.wustl.edu 37 2 128644476 128644476 + R SNP A A C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 2 128644476 128644476 A C SNP ENSG00000272667 ENST00000609350 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-395A13.2 Clone_based_vega_gene ENSG00000272667 tier1 - - 139 0 0.00 102 19 15.70 88 0 0.00 107 21 16.41 AGR2 0 genome.wustl.edu 37 7 16834610 16834610 + Missense_Mutation SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 7 16834610 16834610 C A SNP AGR2 ENST00000419572 human ensembl 74_37 -1 known missense c.488 p.G163V 1.000 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors AGR2 HGNC ENSG00000106541 tier1 - - 99 0 0.00 45 12 21.05 79 0 0.00 41 19 31.67 SNHG16 0 genome.wustl.edu 37 17 74557370 74557370 + R SNP G G C TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 17 74557370 74557370 G C SNP SNHG16 ENST00000448136 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors SNHG16 HGNC ENSG00000163597 tier1 - - 75 0 0.00 53 26 32.91 126 0 0.00 84 28 25.00 TRHDE 0 genome.wustl.edu 37 12 72866951 72866951 + Silent SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 12 72866951 72866951 C A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.1440 p.G480 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 66 0 0.00 27 8 22.86 125 0 0.00 113 32 22.07 MME 0 genome.wustl.edu 37 3 154834539 154834539 + Frame_Shift_Del DEL C C - TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 3 154834539 154834539 C - DEL MME ENST00000360490 human ensembl 74_37 +1 known frame_shift_del c.526 p.Q176fs 0.001 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 tier1 66 0 0.00 38 11 22.45 97 0 0.00 84 25 22.94 PRPF38A 0 genome.wustl.edu 37 1 52874411 52874412 + R INS - - T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 1 52874411 52874412 - T INS PRPF38A ENST00000487160 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.865 - - - no_errors PRPF38A HGNC ENSG00000134748 tier1 73 0 0.00 20 27 57.45 120 0 0.00 31 63 67.02 GOLGA2 0 genome.wustl.edu 37 9 131028291 131028291 + Frame_Shift_Del DEL T T - TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 9 131028291 131028291 T - DEL GOLGA2 ENST00000421699 human ensembl 74_37 -1 known frame_shift_del c.609 p.E204fs 0.997 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 tier1 215 0 0.00 68 45 39.82 82 0 0.00 30 26 46.43 FAT3 0 genome.wustl.edu 37 11 92495307 92495307 + Frame_Shift_Del DEL T T - TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 11 92495307 92495307 T - DEL FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_del c.3955 p.F1319fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 86 0 0.00 13 23 63.89 96 0 0.00 21 50 70.42 CTNND2 0 genome.wustl.edu 37 5 11084014 11084014 + Missense_Mutation SNP C C A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 11084014 11084014 C A SNP CTNND2 ENST00000513588 human ensembl 74_37 -1 known missense c.1953 p.E651D 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 161 0 0.00 84 25 22.94 6 0 0.00 2 6 75.00 EFCAB12 0 genome.wustl.edu 37 3 129137259 129137259 + Silent SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 3 129137259 129137259 G T SNP EFCAB12 ENST00000326085 human ensembl 74_37 -1 known silent c.519 p.R173 0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB12 HGNC ENSG00000172771 tier1 - - 41 0 0.00 21 16 43.24 19 0 0.00 3 2 40.00 EXD3 0 genome.wustl.edu 37 9 140267432 140267432 + Silent SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 9 140267432 140267432 G A SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known silent c.387 p.F129 1.000 NULL pfam_Mut7-C_Rse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 tier1 - - 144 0 0.00 62 23 26.74 15 0 0.00 6 4 40.00 LHFPL1 0 genome.wustl.edu 37 X 111914311 111914311 + Missense_Mutation SNP A A G TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 X 111914311 111914311 A G SNP LHFPL1 ENST00000371968 human ensembl 74_37 -1 known missense c.308 p.V103A 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 tier1 - - 22 0 0.00 5 44 89.80 17 0 0.00 0 27 100.00 MAGEB16 0 genome.wustl.edu 37 X 35820764 35820764 + Missense_Mutation SNP T T A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 X 35820764 35820764 T A SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known missense c.547 p.F183I 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 tier1 - - 38 0 0.00 4 7 63.64 29 0 0.00 7 11 61.11 WNK2 0 genome.wustl.edu 37 9 96080210 96080210 + Silent SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 9 96080210 96080210 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known silent c.6795 p.P2265 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 111 0 0.00 38 29 43.28 24 0 0.00 7 8 53.33 IGDCC4 0 genome.wustl.edu 37 15 65674432 65674432 + R SNP T T A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 15 65674432 65674432 T A SNP IGDCC4 ENST00000558048 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 82 0 0.00 45 5 10.00 50 1 1.96 69 5 6.67 CABIN1 0 genome.wustl.edu 37 22 24459595 24459614 + Splice_Site DEL TTCCTGGCGCTGCAGGTTAG TTCCTGGCGCTGCAGGTTAG - TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 TTCCTGGCGCTGCAGGTTAG TTCCTGGCGCTGCAGGTTAG TTCCTGGCGCTGCAGGTTAG - TTCCTGGCGCTGCAGGTTAG TTCCTGGCGCTGCAGGTTAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 22 24459595 24459614 TTCCTGGCGCTGCAGGTTAG - DEL CABIN1 ENST00000263119 human ensembl 74_37 +1 known splice_site_del c.1884+16_1884+1 e14-1 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.179:0.730:0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.613:0.610:0.813 - - - no_errors CABIN1 HGNC ENSG00000099991 tier1 124 0 0.00 46 5 9.80 124 0 0.00 46 5 9.80 CD200 0 genome.wustl.edu 37 3 112068589 112068589 + Missense_Mutation SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 3 112068589 112068589 G T SNP CD200 ENST00000473539 human ensembl 74_37 +1 known missense c.800 p.S267I 0.856 NULL pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD200 HGNC ENSG00000091972 tier1 - - 128 0 0.00 33 43 56.58 99 2 1.98 46 34 42.50 ANKEF1 0 genome.wustl.edu 37 20 10033785 10033785 + Missense_Mutation SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 20 10033785 10033785 G T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known missense c.1896 p.K632N 0.908 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 tier1 - - 85 0 0.00 48 10 17.24 49 1 2.00 41 16 27.59 ESYT2 0 genome.wustl.edu 37 7 158534291 158534291 + Silent SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 7 158534291 158534291 C T SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known silent c.2172 p.P724 0.999 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 tier1 - - 149 0 0.00 14 16 53.33 19 0 0.00 0 0 0.00 ENSG00000201913 0 genome.wustl.edu 37 7 99928404 99928404 + R SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 7 99928404 99928404 G A SNP ENSG00000201913 ENST00000365043 human ensembl 74_37 -1 novel rna NULL NULL 0.025 - - - no_errors Y_R RFAM ENSG00000201913 tier1 - - 47 0 0.00 17 5 22.73 0 0 0.00 0 0 0.00 ENSG00000221388 0 genome.wustl.edu 37 2 213628371 213628372 + R INS - - TGTGTG TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 2 213628371 213628372 - TGTGTG INS ENSG00000221388 ENST00000408461 human ensembl 74_37 -1 novel rna NULL NULL 0.068:0.063 - - - no_errors AC093865.1 Clone_based_ensembl_gene ENSG00000221388 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LINC01001 0 genome.wustl.edu 37 11 134599 134599 + R SNP G G T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 11 134599 134599 G T SNP LINC01001 ENST00000527683 human ensembl 74_37 -1 known rna NULL NULL 0.881 - - - no_errors LINC01001 HGNC ENSG00000230724 tier1 - - 100 0 0.00 38 5 11.63 3 0 0.00 0 0 0.00 MUC4 0 genome.wustl.edu 37 3 195513887 195513887 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 3 195513887 195513887 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.4564 p.P1522S 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 55 0 0.00 63 18 22.22 1 0 0.00 0 1 100.00 PCDHB2 0 genome.wustl.edu 37 5 140476099 140476099 + Silent SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 5 140476099 140476099 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.1725 p.T575 0.962 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 - - 96 0 0.00 49 13 20.97 3 0 0.00 0 0 0.00 REXO1L1 0 genome.wustl.edu 37 8 86573758 86573758 + Missense_Mutation SNP G G A TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 8 86573758 86573758 G A SNP REXO1L1 ENST00000379010 human ensembl 74_37 -1 putative missense c.1969 p.R657C 0.000 smart_Exonuclease pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1L1 HGNC ENSG00000205176 tier1 - - 217 0 0.00 172 26 13.07 0 0 0.00 1 0 0.00 YTHDC1 0 genome.wustl.edu 37 4 69202908 69202908 + Silent SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 4 69202908 69202908 C T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known silent c.720 p.E240 0.914 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 tier1 - - 52 0 0.00 23 4 14.81 0 0 0.00 0 0 0.00 ZNF536 0 genome.wustl.edu 37 19 30935152 30935152 + Missense_Mutation SNP C C T TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 19 30935152 30935152 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.683 p.P228L 0.148 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 27 0 0.00 6 8 57.14 4 0 0.00 5 3 37.50 ARIH2OS 0 genome.wustl.edu 37 3 48955912 48955920 + In_Frame_Del DEL GGGGTGTAG GGGGTGTAG - TCGA-X6-A7W8-01A-21D-A351-09 TCGA-X6-A7W8-10A-01D-A351-09 GGGGTGTAG GGGGTGTAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0652dca-c89d-47f8-a18f-551c96c2c9ba f1797d64-b9fe-40ab-bd49-793905d5c8d8 3 48955912 48955920 GGGGTGTAG - DEL ARIH2OS ENST00000408959 human ensembl 74_37 -1 known in_frame_del c.671_663 p.YTP222in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000 NULL NULL - no_errors ARIH2OS HGNC ENSG00000221883 tier1 68 0 0.00 42 3 6.67 68 0 0.00 42 3 6.67