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 TMPRSS9 0 genome.wustl.edu 37 19 2425956 2425956 + Missense_Mutation SNP A A C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 19 2425956 2425956 A C SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.3050 p.E1017A 1.000 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 tier1 - - 175 0 0.00 63 40 38.83 57 0 0.00 31 14 31.11 ABHD15 0 genome.wustl.edu 37 17 27889595 27889595 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 17 27889595 27889595 C T SNP ABHD15 ENST00000307201 human ensembl 74_37 -1 known missense c.1391 p.R464Q 1.000 NULL pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 tier1 - - 37 0 0.00 20 18 47.37 79 1 1.25 42 31 42.47 NRXN2 0 genome.wustl.edu 37 11 64418820 64418820 + Missense_Mutation SNP A A G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 11 64418820 64418820 A G SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.2825 p.L942P 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 - - 39 0 0.00 37 4 9.76 71 0 0.00 69 8 10.39 WNT5A 0 genome.wustl.edu 37 3 55514826 55514826 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 3 55514826 55514826 C T SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.127 p.A43T 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 tier1 - - 46 0 0.00 25 23 46.94 106 0 0.00 67 39 36.79 B3GNT2 0 genome.wustl.edu 37 2 62449968 62449968 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 2 62449968 62449968 C T SNP B3GNT2 ENST00000301998 human ensembl 74_37 +1 known missense c.613 p.H205Y 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT2 HGNC ENSG00000170340 tier1 - - 29 0 0.00 26 16 38.10 75 0 0.00 44 36 45.00 PHF21B 0 genome.wustl.edu 37 22 45312449 45312449 + Missense_Mutation SNP G G T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 22 45312449 45312449 G T SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known missense c.275 p.P92H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 84 0 0.00 85 41 32.54 16 0 0.00 27 13 32.50 PTPRU 0 genome.wustl.edu 37 1 29602104 29602104 + Missense_Mutation SNP G G C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 1 29602104 29602104 G C SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.1289 p.S430T 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 45 0 0.00 14 46 76.67 58 0 0.00 30 30 50.00 DBN1 0 genome.wustl.edu 37 5 176887695 176887695 + Missense_Mutation SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 5 176887695 176887695 G A SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known missense c.787 p.R263W 0.985 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 tier1 - - 67 0 0.00 38 28 42.42 156 0 0.00 83 46 35.66 LRG1 0 genome.wustl.edu 37 19 4538518 4538518 + Missense_Mutation SNP G G C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 19 4538518 4538518 G C SNP LRG1 ENST00000306390 human ensembl 74_37 -1 known missense c.478 p.L160V 0.324 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 tier1 - - 60 0 0.00 76 14 15.56 96 0 0.00 77 17 18.09 WDFY3 0 genome.wustl.edu 37 4 85731189 85731189 + Silent SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 4 85731189 85731189 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.2196 p.S732 0.999 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 65 0 0.00 44 12 21.43 81 0 0.00 57 19 25.00 ENSG00000233863 0 genome.wustl.edu 37 8 35650777 35650777 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 8 35650777 35650777 C T SNP ENSG00000233863 ENST00000437887 human ensembl 74_37 +1 known nonsense c.379 p.Q127* 0.009 NULL NULL - no_errors AC012215.1 Clone_based_ensembl_gene ENSG00000233863 tier1 - - 39 0 0.00 42 11 20.75 112 0 0.00 106 26 19.70 CLNK 0 genome.wustl.edu 37 4 10542196 10542196 + Missense_Mutation SNP G G T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 4 10542196 10542196 G T SNP CLNK ENST00000226951 human ensembl 74_37 -1 known missense c.524 p.P175H 0.993 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 tier1 - - 82 0 0.00 50 35 41.18 70 0 0.00 56 42 42.42 PDE1C 0 genome.wustl.edu 37 7 31855612 31855612 + Missense_Mutation SNP C C A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 7 31855612 31855612 C A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.1739 p.R580L 0.122 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 87 0 0.00 36 41 53.25 78 0 0.00 42 34 44.74 PSPC1 0 genome.wustl.edu 37 13 20325550 20325550 + Silent SNP T T C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 13 20325550 20325550 T C SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known silent c.828 p.A276 0.983 pfam_NOPS pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 tier1 - - 68 0 0.00 23 15 39.47 50 0 0.00 18 19 51.35 DOK3 0 genome.wustl.edu 37 5 176936610 176936610 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 5 176936610 176936610 C T SNP DOK3 ENST00000357198 human ensembl 74_37 -1 known missense c.100 p.E34K 1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 tier1 - - 51 0 0.00 22 34 60.71 72 0 0.00 35 27 43.55 SPHKAP 0 genome.wustl.edu 37 2 228855866 228855866 + Missense_Mutation SNP G G T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 2 228855866 228855866 G T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.4809 p.S1603R 0.000 pfam_AKAP_110_C pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 33 0 0.00 45 6 11.76 117 0 0.00 78 18 18.75 SMARCAL1 0 genome.wustl.edu 37 2 217343021 217343021 + Missense_Mutation SNP A A G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 2 217343021 217343021 A G SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.2624 p.K875R 1.000 superfamily_P-loop_NTPase pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 tier1 - - 40 0 0.00 14 24 63.16 85 1 1.16 45 18 28.57 CCR4 0 genome.wustl.edu 37 3 32995907 32995907 + Silent SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 3 32995907 32995907 C T SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known silent c.993 p.Y331 0.627 prints_Chemokine_CCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 tier1 - - 29 0 0.00 28 5 15.15 86 0 0.00 73 13 15.12 CRNKL1 0 genome.wustl.edu 37 20 20024254 20024254 + Missense_Mutation SNP T T C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 20 20024254 20024254 T C SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.1337 p.Q446R 1.000 smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 tier1 - - 60 0 0.00 27 20 42.55 139 0 0.00 58 58 50.00 KIAA1244 0 genome.wustl.edu 37 6 138645275 138645275 + Missense_Mutation SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 6 138645275 138645275 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.4985 p.R1662Q 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 34 0 0.00 33 8 19.51 31 0 0.00 33 4 10.81 ATP2B1 0 genome.wustl.edu 37 12 90028950 90028950 + Missense_Mutation SNP G G C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 12 90028950 90028950 G C SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.485 p.S162C 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 tier1 - - 71 0 0.00 68 17 20.00 162 0 0.00 166 20 10.75 TC2N 0 genome.wustl.edu 37 14 92251695 92251695 + Silent SNP C C A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 14 92251695 92251695 C A SNP TC2N ENST00000340892 human ensembl 74_37 -1 known silent c.1173 p.V391 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors TC2N HGNC ENSG00000165929 tier1 - - 39 0 0.00 38 10 20.83 139 0 0.00 133 29 17.90 SLC22A7 0 genome.wustl.edu 37 6 43269949 43269949 + Missense_Mutation SNP A A T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 6 43269949 43269949 A T SNP SLC22A7 ENST00000372585 human ensembl 74_37 +1 known missense c.1073 p.N358I 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 tier1 - - 86 0 0.00 57 20 25.97 109 0 0.00 69 26 27.37 CES5A 0 genome.wustl.edu 37 16 55909115 55909115 + Missense_Mutation SNP G G T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 16 55909115 55909115 G T SNP CES5A ENST00000290567 human ensembl 74_37 -1 known missense c.19 p.H7N 0.021 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 tier1 - - 52 0 0.00 44 10 18.52 88 0 0.00 50 15 23.08 KIF19 0 genome.wustl.edu 37 17 72339230 72339230 + Silent SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 17 72339230 72339230 C T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known silent c.387 p.N129 0.903 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 - - 46 0 0.00 25 7 21.88 47 0 0.00 42 13 23.64 MUC19 0 genome.wustl.edu 37 12 40867002 40867002 + Missense_Mutation SNP A A G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 12 40867002 40867002 A G SNP MUC19 ENST00000454784 human ensembl 74_37 +1 novel missense c.4009 p.T1337A 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 31 0 0.00 33 15 31.25 118 0 0.00 92 41 30.83 MKRN3 0 genome.wustl.edu 37 15 23811912 23811912 + Missense_Mutation SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 15 23811912 23811912 G A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.983 p.R328H 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 49 0 0.00 32 18 36.00 128 0 0.00 68 39 36.11 PAQR5 0 genome.wustl.edu 37 15 69682069 69682069 + Silent SNP C C A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 15 69682069 69682069 C A SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known silent c.462 p.A154 0.213 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 tier1 - - 53 0 0.00 34 6 15.00 92 0 0.00 49 24 32.88 UNC79 0 genome.wustl.edu 37 14 94008839 94008839 + Missense_Mutation SNP A A C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 14 94008839 94008839 A C SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.1552 p.T518P 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 69 0 0.00 75 14 15.73 76 0 0.00 93 14 12.96 ASRGL1 0 genome.wustl.edu 37 11 62156674 62156674 + Silent SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 11 62156674 62156674 C T SNP ASRGL1 ENST00000301776 human ensembl 74_37 +1 known silent c.561 p.G187 0.965 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors ASRGL1 HGNC ENSG00000162174 tier1 rs150568119 - 86 0 0.00 75 16 17.58 103 0 0.00 72 19 20.88 CHPF 0 genome.wustl.edu 37 2 220405754 220405754 + Missense_Mutation SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 2 220405754 220405754 G A SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.982 p.R328C 0.078 pfam_Chond_Galc pfam_Chond_Galc - no_errors CHPF HGNC ENSG00000123989 tier1 - - 72 0 0.00 46 12 20.69 72 0 0.00 53 18 25.00 ZNF536 0 genome.wustl.edu 37 19 30935048 30935048 + Silent SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 19 30935048 30935048 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.579 p.R193 0.622 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 48 0 0.00 55 6 9.84 18 0 0.00 13 2 13.33 SNORD3B-2 0 genome.wustl.edu 37 17 18967187 18967187 + R SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 17 18967187 18967187 G A SNP SNORD3B-2 ENST00000571722 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 HGNC ENSG00000262074 tier1 - - 68 0 0.00 133 15 10.07 121 0 0.00 146 24 14.12 LRP1B 0 genome.wustl.edu 37 2 141660728 141660728 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 2 141660728 141660728 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3527 p.C1176Y 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 tier1 - - 20 0 0.00 15 4 21.05 83 0 0.00 31 13 29.55 BNC1 0 genome.wustl.edu 37 15 83926276 83926276 + Missense_Mutation SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 15 83926276 83926276 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.2903 p.S968L 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 58 0 0.00 24 32 57.14 130 0 0.00 37 55 59.78 SORBS2 0 genome.wustl.edu 37 4 186544971 186544971 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 4 186544971 186544971 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.1600 p.V534I 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 18 0 0.00 23 6 20.69 85 0 0.00 77 13 14.44 FAM183B 0 genome.wustl.edu 37 7 38725207 38725207 + Silent SNP G G T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 7 38725207 38725207 G T SNP FAM183B ENST00000409072 human ensembl 74_37 -1 novel silent c.399 p.R133 0.019 NULL NULL - no_errors FAM183B HGNC ENSG00000164556 tier1 - - 38 0 0.00 27 6 18.18 86 0 0.00 59 9 13.24 RIMS2 0 genome.wustl.edu 37 8 105106900 105106900 + Missense_Mutation SNP A A G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 8 105106900 105106900 A G SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.3089 p.E1030G 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 19 0 0.00 17 23 57.50 109 0 0.00 78 57 42.22 GAS2L3 0 genome.wustl.edu 37 12 100994198 100994198 + Silent SNP T T C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 12 100994198 100994198 T C SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known silent c.57 p.S19 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 tier1 - - 52 0 0.00 53 6 10.17 51 0 0.00 42 9 17.65 HMBOX1 0 genome.wustl.edu 37 8 28908583 28908583 + Missense_Mutation SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 8 28908583 28908583 G A SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known missense c.1243 p.V415M 1.000 NULL pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 tier1 - - 41 0 0.00 11 5 31.25 52 0 0.00 32 8 20.00 PLX2 0 genome.wustl.edu 37 1 208391096 208391097 + Frame_Shift_Ins INS - - A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 1 208391096 208391097 - A INS PLX2 ENST00000367033 human ensembl 74_37 -1 known frame_shift_ins c.172_171 p.G57fs 0.302:0.070 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLX2 HGNC ENSG00000076356 tier1 54 0 0.00 51 15 22.73 84 0 0.00 50 14 21.88 ENSG00000218416 0 genome.wustl.edu 37 2 241390284 241390284 + Frame_Shift_Del DEL C C - TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 2 241390284 241390284 C - DEL ENSG00000218416 ENST00000404327 human ensembl 74_37 -1 putative frame_shift_del c.123 p.N42fs 0.001 NULL NULL - no_errors AC110619.2 Clone_based_vega_gene ENSG00000218416 tier1 56 0 0.00 28 28 50.00 71 0 0.00 35 32 47.76 KMT2C 0 genome.wustl.edu 37 7 151842337 151842337 + Frame_Shift_Del DEL C C - TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 7 151842337 151842337 C - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.14246 p.G4749fs 1.000 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 88 0 0.00 43 11 20.37 134 0 0.00 100 21 17.36 TP53 0 genome.wustl.edu 37 17 7577114 7577114 + Frame_Shift_Del DEL C C - TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 17 7577114 7577114 C - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.824 p.C275fs 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 32 0 0.00 12 8 40.00 110 0 0.00 52 63 54.78 PRKDC 0 genome.wustl.edu 37 8 48701570 48701570 + Frame_Shift_Del DEL G G - TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 8 48701570 48701570 G - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.10796 p.P3599fs 0.002 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 65 0 0.00 32 55 63.22 63 0 0.00 35 53 60.23 PCDHA2 0 genome.wustl.edu 37 5 140175282 140175285 + Frame_Shift_Del DEL TCAG TCAG - TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 TCAG TCAG TCAG - TCAG TCAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 5 140175282 140175285 TCAG - DEL PCDHA2 ENST00000526136 human ensembl 74_37 +1 known frame_shift_del c.733_736 p.S245fs 0.000:0.000:0.000:0.000 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 30 0 0.00 9 7 43.75 101 0 0.00 48 18 27.27 FBXO5 0 genome.wustl.edu 37 6 153293556 153293556 + Frame_Shift_Del DEL T T - TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 6 153293556 153293556 T - DEL FBXO5 ENST00000229758 human ensembl 74_37 -1 known frame_shift_del c.943 p.T315fs 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom - no_errors FBXO5 HGNC ENSG00000112029 tier1 48 0 0.00 44 7 13.73 98 0 0.00 67 24 26.37 ZNF234 0 genome.wustl.edu 37 19 44653051 44653051 + Splice_Site SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 19 44653051 44653051 G A SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known splice_site c.142+1 e2+1 1.000 - - - no_errors ZNF234 HGNC ENSG00000263002 tier1 - - 87 0 0.00 83 13 13.40 83 0 0.00 91 7 7.14 ANK1 0 genome.wustl.edu 37 8 41519417 41519417 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 8 41519417 41519417 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.5521 p.D1841N 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 rs143987736 - 49 0 0.00 61 10 14.08 88 0 0.00 65 7 9.72 SEC22B 0 genome.wustl.edu 37 1 145112520 145112520 + Splice_Site SNP G G C TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 1 145112520 145112520 G C SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 - - 176 0 0.00 175 19 9.79 284 0 0.00 294 25 7.79 CCR3 0 genome.wustl.edu 37 3 46306890 46306890 + Silent SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 3 46306890 46306890 C T SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known silent c.304 p.L102 0.999 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_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 tier1 - - 21 0 0.00 15 3 16.67 120 0 0.00 115 5 4.17 MYOM3 0 genome.wustl.edu 37 1 24400760 24400760 + Splice_Site SNP C C G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 1 24400760 24400760 C G SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known splice_site c.2862-1 e22-1 1.000 - - - no_errors MYOM3 HGNC ENSG00000142661 tier1 - - 51 0 0.00 32 7 17.95 91 0 0.00 77 4 4.94 KMT2C 0 genome.wustl.edu 37 7 151874147 151874148 + Frame_Shift_Ins INS - - T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 7 151874147 151874148 - T INS KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_ins c.8391_8390 p.E2798fs 0.017:0.019 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 35 0 0.00 29 4 12.12 95 0 0.00 101 4 3.81 MYH7B 0 genome.wustl.edu 37 20 33583296 33583296 + Missense_Mutation SNP A A G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 20 33583296 33583296 A G SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.2984 p.E995G 1.000 superfamily_tR-bd_arm pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tR-bd_arm,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 48 0 0.00 40 4 9.09 9 0 0.00 6 0 0.00 AKR7A2 0 genome.wustl.edu 37 1 19638441 19638441 + Missense_Mutation SNP C C A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 1 19638441 19638441 C A SNP AKR7A2 ENST00000235835 human ensembl 74_37 -1 known missense c.178 p.V60L 0.994 pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom - no_errors AKR7A2 HGNC ENSG00000053371 tier1 - - 12 0 0.00 9 4 30.77 0 0 0.00 2 0 0.00 DNM1P46 0 genome.wustl.edu 37 15 100340186 100340186 + R SNP C C A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 15 100340186 100340186 C A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 rs200975818 - 29 0 0.00 18 5 21.74 0 0 0.00 0 0 0.00 ENSG00000216191 0 genome.wustl.edu 37 2 50923314 50923319 + R DEL GTGTGT GTGTGT - TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 GTGTGT GTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 2 50923314 50923319 GTGTGT - DEL ENSG00000216191 ENST00000401372 human ensembl 74_37 -1 novel rna NULL NULL 0.006:0.004:0.003:0.002:0.002:0.000 - - - no_errors AC009234.2 Clone_based_ensembl_gene ENSG00000216191 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221280 0 genome.wustl.edu 37 12 118604619 118604619 + R SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 12 118604619 118604619 G A SNP ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 - - 29 0 0.00 22 5 18.52 0 0 0.00 0 0 0.00 ENSG00000260411 0 genome.wustl.edu 37 16 5290016 5290016 + R SNP C C G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 16 5290016 5290016 C G SNP ENSG00000260411 ENST00000569895 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-420N3.2 Clone_based_vega_gene ENSG00000260411 tier1 - - 21 0 0.00 19 7 26.92 0 0 0.00 0 0 0.00 FER1L4 0 genome.wustl.edu 37 20 34171885 34171885 + R SNP A A G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 20 34171885 34171885 A G SNP FER1L4 ENST00000430275 human ensembl 74_37 -1 known rna NULL NULL 0.482 - - - no_errors FER1L4 HGNC ENSG00000088340 tier1 - - 47 0 0.00 34 7 17.07 4 0 0.00 7 1 12.50 KRTAP10-9 0 genome.wustl.edu 37 21 46048138 46048138 + R SNP C C G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 21 46048138 46048138 C G SNP KRTAP10-9 ENST00000484861 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KRTAP10-9 HGNC ENSG00000221837 tier1 rs112351109 - 55 0 0.00 28 5 15.15 1 0 0.00 4 0 0.00 KRTAP4-7 0 genome.wustl.edu 37 17 39240828 39240828 + Missense_Mutation SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 17 39240828 39240828 G A SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known missense c.370 p.V124I 0.993 NULL pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 tier1 - - 104 0 0.00 28 37 56.06 3 0 0.00 3 0 0.00 RPS26 0 genome.wustl.edu 37 12 56436288 56436288 + Missense_Mutation SNP G G T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 12 56436288 56436288 G T SNP RPS26 ENST00000356464 human ensembl 74_37 +1 known missense c.83 p.R28L 1.000 pfam_Ribosomal_S26e pfam_Ribosomal_S26e - no_errors RPS26 HGNC ENSG00000197728 tier1 - - 70 0 0.00 74 11 12.79 0 0 0.00 0 0 0.00 RASA3 0 genome.wustl.edu 37 13 114762103 114762103 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 13 114762103 114762103 C T SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.2045 p.R682H 1.000 smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 tier1 - - 44 0 0.00 38 11 22.45 74 0 0.00 51 3 5.56 SYNDIG1L 0 genome.wustl.edu 37 14 74876371 74876371 + Missense_Mutation SNP G G A TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 14 74876371 74876371 G A SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known missense c.77 p.P26L 0.047 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 tier1 - - 36 0 0.00 54 11 16.92 40 0 0.00 50 3 5.56 SLC6A19 0 genome.wustl.edu 37 5 1217031 1217031 + Missense_Mutation SNP A A G TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d400acc7-dfdd-43c8-87ba-7fa730843de4 48693237-2b03-410f-8ac9-7d5ca5a4edb1 5 1217031 1217031 A G SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.1144 p.T382A 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 tier1 - - 37 0 0.00 43 4 8.51 25 0 0.00 33 2 5.71