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 FMNL2 0 genome.wustl.edu 37 2 153475531 153475531 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475531 153475531 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1486 p.V496I 0.896 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 39 0 0.00 76 13 14.61 89 0 0.00 119 32 21.19 FMNL2 0 genome.wustl.edu 37 2 153475473 153475473 + Silent SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475473 153475473 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known silent c.1428 p.E476 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 48 0 0.00 66 12 15.38 92 0 0.00 141 28 16.57 ATP2C2 0 genome.wustl.edu 37 16 84444193 84444193 + Missense_Mutation SNP C C T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 16 84444193 84444193 C T SNP ATP2C2 ENST00000262429 human ensembl 74_37 +1 known missense c.437 p.T146I 0.993 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 tier1 - - 22 0 0.00 34 8 19.05 68 0 0.00 33 11 25.00 FMNL2 0 genome.wustl.edu 37 2 153475615 153475615 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475615 153475615 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1570 p.G524R 0.686 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 31 0 0.00 119 21 15.00 57 0 0.00 105 22 17.32 BRWD3 0 genome.wustl.edu 37 X 79989633 79989633 + Missense_Mutation SNP T T G TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 X 79989633 79989633 T G SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.1070 p.E357A 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 177 0 0.00 89 29 24.58 94 0 0.00 66 30 31.25 OR6T1 0 genome.wustl.edu 37 11 123813912 123813912 + Missense_Mutation SNP C C A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 11 123813912 123813912 C A SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.634 p.A212S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 tier1 - - 35 0 0.00 5 24 82.76 69 0 0.00 19 46 70.77 TMPRSS15 0 genome.wustl.edu 37 21 19732162 19732162 + Silent SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 21 19732162 19732162 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.792 p.S264 0.954 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 141 1 0.70 42 23 35.38 86 0 0.00 54 28 34.15 FMNL2 0 genome.wustl.edu 37 2 153475465 153475465 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475465 153475465 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1420 p.E474K 1.000 pfam_FH3_dom pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 50 0 0.00 67 11 14.10 97 0 0.00 131 24 15.48 EIF4G3 0 genome.wustl.edu 37 1 21167469 21167469 + Missense_Mutation SNP A A G TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 1 21167469 21167469 A G SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.3791 p.F1264S 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI 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 - - 47 0 0.00 54 32 37.21 94 0 0.00 67 34 33.66 FMNL2 0 genome.wustl.edu 37 2 153475500 153475500 + Silent SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475500 153475500 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known silent c.1455 p.K485 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 40 0 0.00 69 15 17.86 91 1 1.09 132 32 19.51 SIX4 0 genome.wustl.edu 37 14 61180804 61180804 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 14 61180804 61180804 G A SNP SIX4 ENST00000216513 human ensembl 74_37 -1 known missense c.1667 p.T556M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX4 HGNC ENSG00000100625 tier1 - - 42 0 0.00 32 14 30.43 75 0 0.00 52 32 38.10 UGT3A2 0 genome.wustl.edu 37 5 36035888 36035888 + Missense_Mutation SNP A A T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 5 36035888 36035888 A T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.1484 p.L495H 0.019 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 - - 17 0 0.00 26 15 36.59 46 0 0.00 46 23 33.33 IGDCC3 0 genome.wustl.edu 37 15 65621811 65621811 + Missense_Mutation SNP C C A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 15 65621811 65621811 C A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.2122 p.D708Y 0.007 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 - - 60 0 0.00 50 31 38.27 15 0 0.00 10 8 44.44 KIAA0355 0 genome.wustl.edu 37 19 34819042 34819042 + Missense_Mutation SNP C C G TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 19 34819042 34819042 C G SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.1090 p.L364V 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 tier1 - - 30 0 0.00 49 9 15.52 77 0 0.00 42 10 19.23 FMNL2 0 genome.wustl.edu 37 2 153475423 153475423 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475423 153475423 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1378 p.E460K 1.000 pfam_FH3_dom pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 50 0 0.00 58 12 17.14 79 0 0.00 123 17 11.89 FMNL2 0 genome.wustl.edu 37 2 153475564 153475564 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475564 153475564 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1519 p.E507K 0.085 prints_Wilms_tumour pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 28 0 0.00 78 13 14.29 71 0 0.00 120 30 20.00 CD86 0 genome.wustl.edu 37 3 121822505 121822505 + Missense_Mutation SNP G G C TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 3 121822505 121822505 G C SNP CD86 ENST00000330540 human ensembl 74_37 +1 known missense c.211 p.G71R 0.603 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD86 HGNC ENSG00000114013 tier1 - - 74 0 0.00 49 21 30.00 102 0 0.00 70 24 25.53 OTOA 0 genome.wustl.edu 37 16 21702929 21702929 + Silent SNP C C T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 16 21702929 21702929 C T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known silent c.660 p.Y220 0.567 NULL NULL - no_errors OTOA HGNC ENSG00000155719 tier1 rs139292090 GMAF=0.0005 54 0 0.00 22 23 51.11 70 0 0.00 61 31 33.70 SLC19A1 0 genome.wustl.edu 37 21 46935022 46935022 + Silent SNP A A G TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 21 46935022 46935022 A G SNP SLC19A1 ENST00000380010 human ensembl 74_37 -1 putative silent c.1338 p.H446 0.000 pirsf_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 - - 18 0 0.00 29 11 27.50 40 0 0.00 18 16 47.06 ZNF182 0 genome.wustl.edu 37 X 47842772 47842772 + Missense_Mutation SNP G G T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 X 47842772 47842772 G T SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known missense c.112 p.Q38K 0.877 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 tier1 - - 70 0 0.00 62 24 27.91 76 0 0.00 47 19 28.79 MMP26 0 genome.wustl.edu 37 11 5013310 5013310 + Missense_Mutation SNP T T C TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 11 5013310 5013310 T C SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known missense c.712 p.F238L 0.898 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 tier1 - - 35 0 0.00 32 9 21.95 98 0 0.00 43 7 14.00 GRHL2 0 genome.wustl.edu 37 8 102570802 102570802 + Missense_Mutation SNP C C T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 8 102570802 102570802 C T SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known missense c.440 p.S147F 0.803 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 tier1 - - 37 0 0.00 15 19 54.29 64 0 0.00 31 23 42.59 PCDHA7 0 genome.wustl.edu 37 5 140214891 140214891 + Missense_Mutation SNP T T A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 5 140214891 140214891 T A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.923 p.M308K 0.079 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 55 0 0.00 22 6 21.43 56 0 0.00 32 6 15.79 ABCA3 0 genome.wustl.edu 37 16 2329036 2329036 + Silent SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 16 2329036 2329036 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.4455 p.G1485 0.995 pfam_ABC_transporter-like,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 ABCA3 HGNC ENSG00000167972 tier1 - - 94 0 0.00 106 58 34.73 16 0 0.00 15 15 50.00 FMNL2 0 genome.wustl.edu 37 2 153475623 153475623 + Silent SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475623 153475623 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known silent c.1578 p.L526 0.733 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 30 0 0.00 114 23 16.79 54 0 0.00 100 21 17.21 MYH6 0 genome.wustl.edu 37 14 23853824 23853824 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 14 23853824 23853824 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.5392 p.R1798W 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 33 0 0.00 58 35 37.63 21 0 0.00 14 8 34.78 POT1 0 genome.wustl.edu 37 7 124493077 124493077 + Missense_Mutation SNP C C T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 7 124493077 124493077 C T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.818 p.R273Q 1.000 superfamily_-bd_OB-fold pfam_Telomer_end-bd_POT1/Cdc13,superfamily_-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 tier1 - - 108 0 0.00 67 12 15.19 105 0 0.00 95 16 14.41 WNK3 0 genome.wustl.edu 37 X 54319436 54319436 + Missense_Mutation SNP A A T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 X 54319436 54319436 A T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.1922 p.I641N 0.410 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 WNK3 HGNC ENSG00000196632 tier1 - - 113 0 0.00 74 13 14.94 104 0 0.00 100 21 17.36 FMNL2 0 genome.wustl.edu 37 2 153475589 153475589 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 153475589 153475589 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1544 p.G515E 0.991 prints_Wilms_tumour pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 32 0 0.00 107 17 13.71 64 0 0.00 124 28 18.42 CHRM2 0 genome.wustl.edu 37 7 136700328 136700328 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 7 136700328 136700328 G A SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.716 p.R239K 0.862 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 24 0 0.00 30 10 25.00 106 0 0.00 63 51 44.74 LOC100131825 0 genome.wustl.edu 37 1 159170734 159170734 + R SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 1 159170734 159170734 G A SNP LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.123 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 - - 49 0 0.00 42 22 34.38 32 0 0.00 19 11 36.67 ZIM2 0 genome.wustl.edu 37 19 57301291 57301291 + Frame_Shift_Del DEL T T - TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 19 57301291 57301291 T - DEL ZIM2 ENST00000221722 human ensembl 74_37 -1 known frame_shift_del c.426 p.E143fs 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 tier1 37 0 0.00 76 16 17.39 58 0 0.00 114 20 14.93 CABP2 0 genome.wustl.edu 37 11 67288529 67288529 + Missense_Mutation SNP C C T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 11 67288529 67288529 C T SNP CABP2 ENST00000294288 human ensembl 74_37 -1 known missense c.346 p.E116K 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP2 HGNC ENSG00000167791 tier1 rs140767804 - 35 0 0.00 25 25 50.00 17 0 0.00 8 5 38.46 FHDC1 0 genome.wustl.edu 37 4 153875437 153875437 + Missense_Mutation SNP G G A TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 4 153875437 153875437 G A SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.629 p.R210Q 0.960 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 tier1 - - 28 0 0.00 3 24 88.89 64 0 0.00 9 32 78.05 SEC16A 0 genome.wustl.edu 37 9 139360765 139360765 + Frame_Shift_Del DEL G G - TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 9 139360765 139360765 G - DEL SEC16A ENST00000313050 human ensembl 74_37 -1 known frame_shift_del c.4079 p.A1360fs 0.006 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 59 0 0.00 85 35 29.17 5 0 0.00 4 3 42.86 DKK1 0 genome.wustl.edu 37 10 54074610 54074610 + R SNP C C T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 10 54074610 54074610 C T SNP DKK1 ENST00000467359 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors DKK1 HGNC ENSG00000107984 tier1 - - 48 0 0.00 42 5 10.64 90 0 0.00 66 5 7.04 USP7 0 genome.wustl.edu 37 16 8988658 8988658 + Missense_Mutation SNP C C T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 16 8988658 8988658 C T SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.3094 p.E1032K 1.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 tier1 - - 23 0 0.00 59 10 14.49 34 0 0.00 51 5 8.93 DNM1P51 0 genome.wustl.edu 37 15 84954198 84954212 + R DEL ATGGGCATGCTGACG ATGGGCATGCTGACG - TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 ATGGGCATGCTGACG ATGGGCATGCTGACG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 15 84954198 84954212 ATGGGCATGCTGACG - DEL DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 1.000:0.996:0.997:0.997:0.990:0.993:1.000:1.000:1.000:0.991:0.992:0.989:0.996:0.997:1.000 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 1 0 0.00 3 0 0.00 1 0 0.00 3 0 0.00 ENSG00000221704 0 genome.wustl.edu 37 2 236480576 236480577 + R INS - - TGTGTGTGTG TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 2 236480576 236480577 - TGTGTGTGTG INS ENSG00000221704 ENST00000408777 human ensembl 74_37 +1 novel rna NULL NULL 0.083:0.055 - - - no_errors AC012305.1 Clone_based_ensembl_gene ENSG00000221704 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LOR 0 genome.wustl.edu 37 1 153233991 153233992 + In_Frame_Ins INS - - CTCTGGCGGCGG TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 1 153233991 153233992 - CTCTGGCGGCGG INS LOR ENST00000368742 human ensembl 74_37 +1 known in_frame_ins c.566_567 p.193in_frame_insGSGG 0.014:0.200 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 2 0 0.00 3 0 0.00 2 0 0.00 3 0 0.00 SEPT5 0 genome.wustl.edu 37 22 19706405 19706474 + Splice_Site DEL GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA - TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 22 19706405 19706474 GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA - DEL SEPT5 ENST00000490204 human ensembl 74_37 +1 putative splice_site_del c.NULL NULL 0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.001:0.000:0.228:0.234:0.241:0.322:0.327:0.699:0.694:0.703:0.739:0.769:0.806:0.810:0.791:0.694:0.664:0.665:0.662:0.840:0.858:0.920:0.932:0.929:0.905:0.868:0.689:0.525:0.473:0.458:0.371:0.369:0.365:0.319:0.270:0.205:0.118:0.062:0.038:0.026:0.037:0.153:0.410:0.429:0.415:0.344:0.328:0.109:0.017:0.008:0.013:0.016:0.014:0.010:0.028:0.026:0.027:0.003:0.000:0.000 - - - no_errors SEPT5 HGNC ENSG00000184702 tier1 2 0 0.00 0 0 0.00 2 0 0.00 0 0 0.00 LOC642361 0 genome.wustl.edu 37 10 81586763 81586764 + R INS - - TCGCCTCGCC TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1dbf015e-3809-436e-b7c4-d2b40266bd0f b9ce481f-768d-40b6-aa4a-b571e5069c27 10 81586763 81586764 - TCGCCTCGCC INS LOC642361 ENST00000605920 human ensembl 74_37 +1 known rna NULL NULL 0.302:0.319 - - - no_errors RP11-182L21.6 Clone_based_vega_gene ENSG00000272447 tier1 2 0 0.00 6 2 25.00 2 0 0.00 6 2 25.00