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 YJEFN3 0 genome.wustl.edu 37 19 19627062 19627062 + Missense_Mutation SNP G G C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 19 19627062 19627062 G C SNP YJEFN3 ENST00000608404 human ensembl 74_37 +1 known missense c.15 p.K5N 1.000 pfam_GRIM-19 pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors YJEFN3 HGNC ENSG00000250067 tier1 rs137852869 - 89 0 0.00 55 38 40.86 53 0 0.00 33 25 41.67 FCHO1 0 genome.wustl.edu 37 19 17877435 17877435 + R SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 19 17877435 17877435 G A SNP FCHO1 ENST00000601247 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FCHO1 HGNC ENSG00000130475 tier1 - - 78 0 0.00 101 44 30.34 40 0 0.00 41 17 29.31 IGF2BP1 0 genome.wustl.edu 37 17 47121387 47121387 + Missense_Mutation SNP T T C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 17 47121387 47121387 T C SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.1259 p.I420T 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 tier1 - - 110 0 0.00 68 27 28.42 53 0 0.00 44 14 24.14 CAPN9 0 genome.wustl.edu 37 1 230898442 230898442 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 1 230898442 230898442 G A SNP CAPN9 ENST00000271971 human ensembl 74_37 +1 known missense c.446 p.R149H 0.999 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 tier1 rs201859022 - 150 0 0.00 54 67 54.47 65 0 0.00 20 27 57.45 C3 0 genome.wustl.edu 37 19 6682024 6682024 + Missense_Mutation SNP G G C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 19 6682024 6682024 G C SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.4278 p.D1426E 1.000 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 254 0 0.00 356 64 15.24 127 0 0.00 155 31 16.67 PCDH15 0 genome.wustl.edu 37 10 55955488 55955488 + Missense_Mutation SNP C C G TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 10 55955488 55955488 C G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1260 p.L420F 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 80 0 0.00 9 41 82.00 119 0 0.00 13 46 77.97 COL4A3 0 genome.wustl.edu 37 2 228148947 228148947 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 2 228148947 228148947 G A SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.2767 p.V923I 0.010 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 68 0 0.00 100 17 14.53 96 0 0.00 108 14 11.48 LRRC4 0 genome.wustl.edu 37 7 127669285 127669285 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 7 127669285 127669285 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1409 p.T470M 0.813 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 tier1 - - 54 0 0.00 31 39 55.71 75 0 0.00 62 35 36.08 KIAA1210 0 genome.wustl.edu 37 X 118284427 118284427 + Missense_Mutation SNP C C A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e X 118284427 118284427 C A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.116 p.S39I 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 91 0 0.00 44 44 50.00 97 0 0.00 41 49 54.44 LOC401286 0 genome.wustl.edu 37 6 168070051 168070051 + R SNP G G C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 6 168070051 168070051 G C SNP LOC401286 ENST00000609107 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-351J23.2 Clone_based_vega_gene ENSG00000272549 tier1 - - 87 0 0.00 142 48 25.26 55 0 0.00 84 30 26.32 NCOR1 0 genome.wustl.edu 37 17 16004983 16004983 + Silent SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 17 16004983 16004983 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.2271 p.T757 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 - - 141 0 0.00 192 79 29.15 138 0 0.00 154 64 29.36 ALG13 0 genome.wustl.edu 37 X 110996301 110996301 + R SNP T T A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e X 110996301 110996301 T A SNP ALG13 ENST00000474121 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors ALG13 HGNC ENSG00000101901 tier1 - - 21 0 0.00 12 11 47.83 122 0 0.00 33 48 59.26 CAPS2 0 genome.wustl.edu 37 12 75676046 75676046 + Missense_Mutation SNP A A T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 12 75676046 75676046 A T SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.1654 p.S552T 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 tier1 - - 123 0 0.00 31 55 63.95 111 0 0.00 21 36 63.16 COL6A1 0 genome.wustl.edu 37 21 47421263 47421263 + Missense_Mutation SNP A A G TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 21 47421263 47421263 A G SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.1919 p.K640R 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 79 0 0.00 57 49 46.23 43 0 0.00 25 17 40.48 KREMEN2 0 genome.wustl.edu 37 16 3016141 3016141 + Silent SNP T T C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 16 3016141 3016141 T C SNP KREMEN2 ENST00000303746 human ensembl 74_37 +1 known silent c.270 p.R90 1.000 pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Kremen,pfam_WSC_carb-bd,pfam_Kringle,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN2 HGNC ENSG00000131650 tier1 - - 60 0 0.00 60 17 22.08 17 0 0.00 18 7 28.00 ENSG00000257743 0 genome.wustl.edu 37 7 141859096 141859096 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 7 141859096 141859096 G A SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.2173 p.E725K 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 80 0 0.00 63 61 49.19 168 0 0.00 78 56 41.79 MBNL1 0 genome.wustl.edu 37 3 152016827 152016827 + R SNP G G C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 3 152016827 152016827 G C SNP MBNL1 ENST00000466565 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors MBNL1 HGNC ENSG00000152601 tier1 - - 35 0 0.00 23 31 57.41 118 0 0.00 63 56 47.06 EQTN 0 genome.wustl.edu 37 9 27294315 27294315 + Silent SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 9 27294315 27294315 G A SNP EQTN ENST00000380032 human ensembl 74_37 -1 known silent c.288 p.N96 0.558 NULL NULL - no_errors EQTN HGNC ENSG00000120160 tier1 rs149742821 - 190 0 0.00 166 51 23.39 157 0 0.00 93 51 35.42 CHD6 0 genome.wustl.edu 37 20 40033612 40033612 + Missense_Mutation SNP G G C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 20 40033612 40033612 G C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.7769 p.P2590R 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 124 0 0.00 130 35 21.21 146 0 0.00 112 21 15.56 LAMB3 0 genome.wustl.edu 37 1 209791807 209791807 + Missense_Mutation SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 1 209791807 209791807 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.2899 p.E967K 0.971 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 tier1 - - 75 0 0.00 63 28 30.77 41 0 0.00 22 16 42.11 OR9A4 0 genome.wustl.edu 37 7 141618923 141618923 + Missense_Mutation SNP G G T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 7 141618923 141618923 G T SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known missense c.248 p.G83V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 tier1 - - 137 0 0.00 121 78 39.20 103 0 0.00 45 41 47.67 WDR87 0 genome.wustl.edu 37 19 38379228 38379228 + Missense_Mutation SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 19 38379228 38379228 C T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.5083 p.E1695K 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 154 1 0.65 97 75 43.60 168 0 0.00 91 74 44.85 CYP4F2 0 genome.wustl.edu 37 19 16003201 16003201 + Missense_Mutation SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 19 16003201 16003201 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.443 p.R148H 0.996 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 - - 137 0 0.00 197 70 26.22 16 0 0.00 32 7 17.95 PCDHB15 0 genome.wustl.edu 37 5 140626730 140626730 + Silent SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 5 140626730 140626730 G A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known silent c.1584 p.E528 0.735 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 tier1 - - 349 0 0.00 243 219 47.30 14 0 0.00 11 5 31.25 ENSG00000254592 0 genome.wustl.edu 37 11 3361794 3361794 + R SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 11 3361794 3361794 G A SNP ENSG00000254592 ENST00000526922 human ensembl 74_37 +1 known rna NULL NULL 0.077 - - - no_errors RP5-1173A5.1 Clone_based_vega_gene ENSG00000254592 tier1 - - 12 0 0.00 6 11 64.71 99 0 0.00 53 39 42.39 SPTB 0 genome.wustl.edu 37 14 65253407 65253407 + Silent SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 14 65253407 65253407 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.3276 p.S1092 0.991 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 tier1 - - 60 0 0.00 40 37 48.05 55 0 0.00 26 17 39.53 ADAMTSL3 0 genome.wustl.edu 37 15 84652065 84652065 + Missense_Mutation SNP A A C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 15 84652065 84652065 A C SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.3685 p.K1229Q 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 tier1 - - 54 0 0.00 63 78 55.32 135 0 0.00 77 122 61.00 FNDC1 0 genome.wustl.edu 37 6 159650887 159650887 + Silent SNP A A T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 6 159650887 159650887 A T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known silent c.1221 p.G407 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 - - 130 0 0.00 108 66 37.93 107 0 0.00 34 49 59.04 ITIH6 0 genome.wustl.edu 37 X 54784926 54784926 + Silent SNP A A G TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e X 54784926 54784926 A G SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known silent c.1581 p.D527 0.003 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 tier1 - - 13 0 0.00 17 14 45.16 22 0 0.00 17 21 55.26 FMO2 0 genome.wustl.edu 37 1 171178052 171178052 + Missense_Mutation SNP T T A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 1 171178052 171178052 T A SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.1376 p.L459Q 1.000 pfam_Flavin_mOase-like pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 tier1 - - 133 0 0.00 59 64 52.03 144 0 0.00 58 76 55.88 ATP10D 0 genome.wustl.edu 37 4 47563058 47563058 + Silent SNP T T A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 4 47563058 47563058 T A SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.2634 p.S878 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP10D HGNC ENSG00000145246 tier1 - - 143 0 0.00 119 72 37.50 131 0 0.00 79 45 36.29 GGH 0 genome.wustl.edu 37 8 63938818 63938818 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 8 63938818 63938818 G A SNP GGH ENST00000260118 human ensembl 74_37 -1 known missense c.398 p.T133I 0.999 pfam_Peptidase_C26,pfam_GATASE pfam_Peptidase_C26,pfam_GATASE - no_errors GGH HGNC ENSG00000137563 tier1 - - 61 0 0.00 43 31 41.89 146 0 0.00 67 50 42.74 ABCA2 0 genome.wustl.edu 37 9 139910007 139910007 + Missense_Mutation SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 9 139910007 139910007 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.3556 p.D1186N 0.997 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 126 0 0.00 85 107 55.73 62 0 0.00 40 49 55.06 JOSD1 0 genome.wustl.edu 37 22 39085422 39085422 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 22 39085422 39085422 G A SNP JOSD1 ENST00000216039 human ensembl 74_37 -1 known missense c.193 p.P65S 1.000 pfam_Josephin,pfscan_Josephin pfam_Josephin,pfscan_Josephin - no_errors JOSD1 HGNC ENSG00000100221 tier1 - - 129 0 0.00 16 57 78.08 127 1 0.78 12 61 83.56 ZCCHC6 0 genome.wustl.edu 37 9 88924912 88924912 + Silent SNP A A G TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 9 88924912 88924912 A G SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known silent c.3399 p.L1133 0.956 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 tier1 - - 38 0 0.00 40 37 48.05 187 0 0.00 69 87 55.77 ANO4 0 genome.wustl.edu 37 12 101436131 101436131 + Missense_Mutation SNP A A T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 12 101436131 101436131 A T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.1039 p.I347F 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 243 0 0.00 174 71 28.98 113 0 0.00 70 21 23.08 VPS45 0 genome.wustl.edu 37 1 150040903 150040903 + R SNP T T C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 1 150040903 150040903 T C SNP VPS45 ENST00000478999 human ensembl 74_37 +1 known rna NULL NULL 0.910 - - - no_errors VPS45 HGNC ENSG00000136631 tier1 - - 23 0 0.00 9 11 55.00 103 0 0.00 48 48 50.00 FOXC1 0 genome.wustl.edu 37 6 1611233 1611233 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 6 1611233 1611233 G A SNP FOXC1 ENST00000380874 human ensembl 74_37 +1 known missense c.553 p.E185K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC ENSG00000054598 tier1 - - 64 0 0.00 30 45 59.21 33 0 0.00 17 7 29.17 KLRB1 0 genome.wustl.edu 37 12 9754110 9754110 + Silent SNP C C G TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 12 9754110 9754110 C G SNP KLRB1 ENST00000229402 human ensembl 74_37 -1 known silent c.171 p.G57 0.339 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRB1 HGNC ENSG00000111796 tier1 - - 42 0 0.00 25 31 55.36 181 0 0.00 112 91 44.83 ABCA5 0 genome.wustl.edu 37 17 67266815 67266815 + Missense_Mutation SNP T T A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 17 67266815 67266815 T A SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.2972 p.Y991F 0.935 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 tier1 - - 123 0 0.00 78 22 22.00 97 0 0.00 40 15 27.27 TCAIM 0 genome.wustl.edu 37 3 44402983 44402983 + Missense_Mutation SNP G G T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 3 44402983 44402983 G T SNP TCAIM ENST00000342649 human ensembl 74_37 +1 known missense c.292 p.D98Y 0.943 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 tier1 - - 75 0 0.00 32 44 57.89 154 0 0.00 78 58 42.65 PNMA5 0 genome.wustl.edu 37 X 152159721 152159721 + Missense_Mutation SNP T T G TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e X 152159721 152159721 T G SNP PNMA5 ENST00000361887 human ensembl 74_37 -1 known missense c.422 p.Q141P 0.000 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 tier1 - - 84 0 0.00 62 32 34.04 129 0 0.00 76 32 29.63 BOLL 0 genome.wustl.edu 37 2 198621169 198621169 + Missense_Mutation SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 2 198621169 198621169 C T SNP BOLL ENST00000321801 human ensembl 74_37 -1 known missense c.748 p.E250K 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 tier1 - - 34 0 0.00 27 23 46.00 119 1 0.83 73 61 45.52 BAIAP2-AS1 0 genome.wustl.edu 37 17 79005063 79005063 + R DEL C C - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 17 79005063 79005063 C - DEL BAIAP2-AS1 ENST00000542745 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors BAIAP2-AS1 HGNC ENSG00000226137 tier1 113 0 0.00 75 29 27.88 42 0 0.00 25 8 24.24 EIF4G3 0 genome.wustl.edu 37 1 21183897 21183906 + Frame_Shift_Del DEL TTAGTGATTT TTAGTGATTT - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 TTAGTGATTT TTAGTGATTT TTAGTGATTT - TTAGTGATTT TTAGTGATTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 1 21183897 21183906 TTAGTGATTT - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.3188_3179 p.K1060fs 1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 tier1 123 0 0.00 88 25 22.12 123 0 0.00 88 25 22.12 TEK 0 genome.wustl.edu 37 9 27158026 27158026 + Frame_Shift_Del DEL A A - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 9 27158026 27158026 A - DEL TEK ENST00000380036 human ensembl 74_37 +1 known frame_shift_del c.250 p.V86fs 1.000 pfam_Tyr_kin_Tie2_Ig-like_dom-1_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 147 0 0.00 136 35 20.47 80 0 0.00 74 24 24.49 PRKCE 0 genome.wustl.edu 37 2 46378274 46378300 + In_Frame_Del DEL CCGACAATGAGGACGACCTATTTGAGT CCGACAATGAGGACGACCTATTTGAGT - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 CCGACAATGAGGACGACCTATTTGAGT CCGACAATGAGGACGACCTATTTGAGT CCGACAATGAGGACGACCTATTTGAGT - CCGACAATGAGGACGACCTATTTGAGT CCGACAATGAGGACGACCTATTTGAGT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 2 46378274 46378300 CCGACAATGAGGACGACCTATTTGAGT - DEL PRKCE ENST00000306156 human ensembl 74_37 +1 known in_frame_del c.1826_1852 p.DNEDDLFES610in_frame_del 1.000:0.054:1.000:1.000:1.000:1.000:1.000:0.814:1.000:1.000:1.000:1.000:1.000:0.979:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 tier1 36 0 0.00 18 4 18.18 36 0 0.00 18 4 18.18 FGD5 0 genome.wustl.edu 37 3 14861642 14861642 + Frame_Shift_Del DEL C C - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 3 14861642 14861642 C - DEL FGD5 ENST00000285046 human ensembl 74_37 +1 known frame_shift_del c.1064 p.S356fs 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 tier1 103 0 0.00 64 59 47.97 26 0 0.00 29 7 19.44 TBC1D29 0 genome.wustl.edu 37 17 28887198 28887198 + Frame_Shift_Del DEL G G - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 17 28887198 28887198 G - DEL TBC1D29 ENST00000579181 human ensembl 74_37 +1 known frame_shift_del c.76 p.I27fs 0.001 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 tier1 160 0 0.00 223 23 9.35 30 0 0.00 28 7 20.00 AKD1 0 genome.wustl.edu 37 1 109394841 109394842 + In_Frame_Ins INS - - TAA TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 - - - TAA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 1 109394841 109394842 - TAA INS AKD1 ENST00000370001 human ensembl 74_37 -1 known in_frame_ins c.446_445 p.149in_frame_insI 0.324:0.324 NULL pfam_TF_AT-hook - no_errors AKD1 HGNC ENSG00000162641 tier1 61 0 0.00 52 7 11.86 103 0 0.00 73 10 12.05 ANKRD30A 0 genome.wustl.edu 37 10 37488707 37488707 + Missense_Mutation SNP G G C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 10 37488707 37488707 G C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2601 p.W867C 0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 338 0 0.00 26 143 84.12 20 0 0.00 2 12 85.71 ENSG00000267660 0 genome.wustl.edu 37 16 67978141 67978141 + R SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 16 67978141 67978141 G A SNP ENSG00000267660 ENST00000590594 human ensembl 74_37 -1 known rna NULL NULL 0.083 - - - no_errors CTC-479C5.17 Clone_based_vega_gene ENSG00000267660 tier1 - - 47 0 0.00 5 35 87.50 16 0 0.00 0 14 100.00 KCNG4 0 genome.wustl.edu 37 16 84270722 84270722 + Missense_Mutation SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 16 84270722 84270722 C T SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.370 p.V124M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 tier1 - - 119 0 0.00 11 79 87.78 31 0 0.00 3 13 81.25 LOC338963 0 genome.wustl.edu 37 15 83380050 83380050 + R SNP G G C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 15 83380050 83380050 G C SNP LOC338963 ENST00000440089 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC105339.1 Clone_based_vega_gene ENSG00000228141 tier1 - - 61 0 0.00 40 59 59.00 17 0 0.00 8 9 52.94 RINL 0 genome.wustl.edu 37 19 39361491 39361491 + Missense_Mutation SNP T T C TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 19 39361491 39361491 T C SNP RINL ENST00000591812 human ensembl 74_37 -1 known missense c.743 p.D248G 0.121 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors RINL HGNC ENSG00000187994 tier1 - - 79 0 0.00 74 59 44.03 15 0 0.00 3 3 50.00 TP53 0 genome.wustl.edu 37 17 7578290 7578290 + Splice_Site SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 17 7578290 7578290 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.560-1 e5-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 93 0 0.00 14 51 77.27 118 0 0.00 6 48 88.89 EWSR1 0 genome.wustl.edu 37 22 29693838 29693838 + Missense_Mutation SNP A A T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 22 29693838 29693838 A T SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.1331 p.K444I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 tier1 - - 82 0 0.00 51 6 10.53 105 1 0.94 91 5 5.15 ALOX15 0 genome.wustl.edu 37 17 4541604 4541604 + Missense_Mutation SNP C C T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 17 4541604 4541604 C T SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.781 p.V261M 0.997 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 tier1 rs3892408 - 30 0 0.00 16 5 23.81 7 0 0.00 7 1 12.50 ENSG00000216089 0 genome.wustl.edu 37 4 160216901 160216908 + R DEL GTGTGTGC GTGTGTGC - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 GTGTGTGC GTGTGTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 4 160216901 160216908 GTGTGTGC - DEL ENSG00000216089 ENST00000401270 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000:0.000:0.000:0.002:0.000:0.000:0.000 - - - no_errors AC105316.1 Clone_based_ensembl_gene ENSG00000216089 tier1 6 0 0.00 6 1 14.29 6 0 0.00 6 1 14.29 ENSG00000237452 0 genome.wustl.edu 37 19 46265047 46265048 + In_Frame_Ins INS - - TCCAGC TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 19 46265047 46265048 - TCCAGC INS ENSG00000237452 ENST00000457052 human ensembl 74_37 +1 putative in_frame_ins c.1356_1357 p.456in_frame_insSS 0.000:0.004 NULL pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier1 6 0 0.00 0 1 100.00 6 0 0.00 0 1 100.00 CAPNS1 0 genome.wustl.edu 37 19 36632024 36632025 + In_Frame_Ins INS - - GGC TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 19 36632024 36632025 - GGC INS CAPNS1 ENST00000588780 human ensembl 74_37 +1 known in_frame_ins c.111_112 p.41in_frame_insG 0.001:0.907 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 tier1 38 0 0.00 28 4 12.50 1 0 0.00 4 0 0.00 LOC101927345 0 genome.wustl.edu 37 1 143380578 143380578 + R SNP G G T TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 1 143380578 143380578 G T SNP LOC101927345 ENST00000423394 human ensembl 74_37 +1 known rna NULL NULL 0.425 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 68 0 0.00 39 20 33.90 1 0 0.00 0 0 0.00 TMEM130 0 genome.wustl.edu 37 7 98445133 98445142 + R DEL GTGTGTGTGT GTGTGTGTGT - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 GTGTGTGTGT GTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 7 98445133 98445142 GTGTGTGTGT - DEL TMEM130 ENST00000474857 human ensembl 74_37 -1 putative rna NULL NULL 0.006:0.003:0.003:0.001:0.000:0.000:0.001:0.001:0.002:0.001 - - - no_errors TMEM130 HGNC ENSG00000166448 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 SALL3 0 genome.wustl.edu 37 18 76755241 76755241 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 18 76755241 76755241 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.3250 p.V1084I 0.054 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 29 0 0.00 2 16 88.89 3 0 0.00 1 4 80.00 MAN1B1 0 genome.wustl.edu 37 9 139998693 139998693 + R DEL G G - TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98730fa6-9c2d-4fd3-8862-ba7f78473395 971c456f-5be0-4a53-9780-492252d16f2e 9 139998693 139998693 G - DEL MAN1B1 ENST00000540391 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors MAN1B1 HGNC ENSG00000177239 tier1 11 0 0.00 18 4 18.18 22 0 0.00 20 2 9.09