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 FUT10 0 genome.wustl.edu 37 8 33247235 33247235 + Missense_Mutation SNP T T C TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 8 33247235 33247235 T C SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known missense c.458 p.K153R 1.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 tier1 - - 42 0 0.00 31 28 47.46 90 0 0.00 51 42 45.16 MTUS1 0 genome.wustl.edu 37 8 17612954 17612954 + Missense_Mutation SNP A A C TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 8 17612954 17612954 A C SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.363 p.C121W 0.002 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 tier1 - - 30 0 0.00 25 26 50.98 60 0 0.00 43 32 42.67 BCAR3 0 genome.wustl.edu 37 1 94037299 94037299 + Silent SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 1 94037299 94037299 C T SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known silent c.1902 p.A634 0.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 tier1 - - 26 0 0.00 42 9 17.65 38 0 0.00 71 11 13.41 CALN1 0 genome.wustl.edu 37 7 71252851 71252851 + Missense_Mutation SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 7 71252851 71252851 C T SNP CALN1 ENST00000395275 human ensembl 74_37 -1 known missense c.695 p.R232Q 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALN1 HGNC ENSG00000183166 tier1 - - 31 0 0.00 13 5 26.32 70 0 0.00 35 25 41.67 PTPRK 0 genome.wustl.edu 37 6 128294875 128294875 + Missense_Mutation SNP A A T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 6 128294875 128294875 A T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.4118 p.I1373K 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 25 0 0.00 30 17 36.17 55 0 0.00 50 31 38.27 RHO 0 genome.wustl.edu 37 3 129247673 129247673 + Missense_Mutation SNP G G A TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 3 129247673 129247673 G A SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.97 p.E33K 0.999 pfam_Rhodopsin_N,prints_Rhodopsin pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 tier1 - - 46 0 0.00 13 6 31.58 68 1 1.43 43 22 33.85 DTHD1 0 genome.wustl.edu 37 4 36345327 36345327 + Missense_Mutation SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 4 36345327 36345327 C T SNP DTHD1 ENST00000456874 human ensembl 74_37 +1 known missense c.2227 p.L743F 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain - no_errors DTHD1 HGNC ENSG00000197057 tier1 - - 21 0 0.00 22 16 42.11 28 0 0.00 41 30 42.25 AQP4 0 genome.wustl.edu 37 18 24436401 24436401 + Missense_Mutation SNP T T C TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 18 24436401 24436401 T C SNP AQP4 ENST00000383168 human ensembl 74_37 -1 known missense c.746 p.E249G 1.000 superfamily_Aquaporin-like,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP4 HGNC ENSG00000171885 tier1 - - 28 0 0.00 12 17 58.62 116 0 0.00 85 41 32.54 NOTCH4 0 genome.wustl.edu 37 6 32185035 32185035 + Missense_Mutation SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 6 32185035 32185035 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.1633 p.G545S 0.996 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 32 0 0.00 19 9 32.14 49 0 0.00 45 23 33.82 TCOF1 0 genome.wustl.edu 37 5 149753842 149753842 + Missense_Mutation SNP G G T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 5 149753842 149753842 G T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.976 p.V326L 0.000 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 - - 54 0 0.00 44 4 8.33 14 0 0.00 14 2 12.50 DPT 0 genome.wustl.edu 37 1 168698150 168698150 + Missense_Mutation SNP G G A TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 1 168698150 168698150 G A SNP DPT ENST00000367817 human ensembl 74_37 -1 known missense c.263 p.T88M 0.808 NULL NULL - no_errors DPT HGNC ENSG00000143196 tier1 rs200918644 GMAF=0.0005 48 0 0.00 21 25 54.35 63 0 0.00 32 16 33.33 CDH19 0 genome.wustl.edu 37 18 64235825 64235825 + Silent SNP A A G TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 18 64235825 64235825 A G SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known silent c.318 p.D106 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 15 0 0.00 41 14 25.45 18 0 0.00 55 21 27.63 DHX29 0 genome.wustl.edu 37 5 54586147 54586147 + Missense_Mutation SNP G G A TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 5 54586147 54586147 G A SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known missense c.806 p.A269V 0.998 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 tier1 - - 44 0 0.00 30 31 50.82 37 0 0.00 41 26 38.81 PARD3B 0 genome.wustl.edu 37 2 206480689 206480689 + R SNP A A G TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 2 206480689 206480689 A G SNP PARD3B ENST00000488622 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors PARD3B HGNC ENSG00000116117 tier1 - - 9 0 0.00 11 5 31.25 55 0 0.00 39 27 40.91 SERINC1 0 genome.wustl.edu 37 6 122768037 122768037 + Missense_Mutation SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 6 122768037 122768037 C T SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known missense c.1108 p.D370N 0.990 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 tier1 rs200633097 GMAF=0.0005 35 0 0.00 19 16 45.71 81 0 0.00 56 40 41.67 KIF22 0 genome.wustl.edu 37 16 29808222 29808222 + Missense_Mutation SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 16 29808222 29808222 C T SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.79 p.R27C 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_D-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 tier1 - - 30 0 0.00 17 8 32.00 48 0 0.00 29 18 38.30 CSMD1 0 genome.wustl.edu 37 8 3008950 3008950 + Nonsense_Mutation SNP G G T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 8 3008950 3008950 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known nonsense c.6003 p.C2001* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 53 0 0.00 64 15 18.99 77 0 0.00 77 12 13.48 KANK2 0 genome.wustl.edu 37 19 11277131 11277131 + R SNP G G A TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 19 11277131 11277131 G A SNP KANK2 ENST00000587317 human ensembl 74_37 -1 known rna NULL NULL 0.275 - - - no_errors KANK2 HGNC ENSG00000197256 tier1 - - 68 0 0.00 20 10 33.33 53 0 0.00 14 20 58.82 SEC14L4 0 genome.wustl.edu 37 22 30890890 30890890 + Missense_Mutation SNP T T C TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 22 30890890 30890890 T C SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known missense c.482 p.K161R 0.655 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 tier1 - - 27 0 0.00 14 8 36.36 68 0 0.00 59 18 23.38 TP53 0 genome.wustl.edu 37 17 7578271 7578273 + In_Frame_Del DEL TGC TGC - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 TGC TGC TGC - TGC TGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 17 7578271 7578273 TGC - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.578_576 p.Q192in_frame_del 0.998:1.000:0.998 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd 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 103 0 0.00 9 26 74.29 155 0 0.00 24 27 52.94 ENSG00000258727 0 genome.wustl.edu 37 14 24030418 24030424 + R DEL CCATGAG CCATGAG - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 CCATGAG CCATGAG CCATGAG - CCATGAG CCATGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 14 24030418 24030424 CCATGAG - DEL ENSG00000258727 ENST00000555968 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 tier1 73 0 0.00 77 20 20.62 73 0 0.00 77 20 20.62 ASB10 0 genome.wustl.edu 37 7 150878106 150878106 + Missense_Mutation SNP G G C TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 7 150878106 150878106 G C SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.1159 p.L387V 0.122 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 tier1 - - 72 0 0.00 21 13 38.24 10 0 0.00 6 7 53.85 PAX1 0 genome.wustl.edu 37 20 21687507 21687507 + Missense_Mutation SNP C C A TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 20 21687507 21687507 C A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.718 p.P240T 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 194 0 0.00 8 40 83.33 50 0 0.00 5 15 75.00 PCDHGA9 0 genome.wustl.edu 37 5 140783160 140783160 + Missense_Mutation SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 5 140783160 140783160 C T SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.641 p.A214V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 tier1 - - 72 0 0.00 16 13 44.83 16 0 0.00 0 2 100.00 RB1 0 genome.wustl.edu 37 13 48919300 48919300 + Nonsense_Mutation SNP T T A TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 13 48919300 48919300 T A SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.465 p.Y155* 0.960 pfam_RB_N pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 - - 54 0 0.00 7 13 65.00 33 0 0.00 4 22 84.62 SETD1A 0 genome.wustl.edu 37 16 30976472 30976472 + Missense_Mutation SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 16 30976472 30976472 C T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.1409 p.S470F 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 tier1 - - 70 0 0.00 20 11 33.33 15 0 0.00 8 2 20.00 TMEM51 0 genome.wustl.edu 37 1 15541908 15541908 + Missense_Mutation SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 1 15541908 15541908 C T SNP TMEM51 ENST00000376008 human ensembl 74_37 +1 known missense c.325 p.H109Y 0.002 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 tier1 - - 110 0 0.00 32 28 46.67 23 0 0.00 6 3 33.33 ZNF446 0 genome.wustl.edu 37 19 58991842 58991842 + Missense_Mutation SNP G G A TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 19 58991842 58991842 G A SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.1102 p.G368R 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 tier1 - - 116 0 0.00 21 23 52.27 37 0 0.00 5 4 44.44 ARHGEF12 0 genome.wustl.edu 37 11 120291478 120291478 + Silent SNP C C T TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 11 120291478 120291478 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known silent c.159 p.C53 1.000 superfamily_PDZ,pfscan_PDZ pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 tier1 rs199795842 GMAF=0.0005 96 0 0.00 76 7 8.43 103 0 0.00 85 7 7.53 SBNO2 0 genome.wustl.edu 37 19 1111506 1111506 + Silent SNP C C G TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 19 1111506 1111506 C G SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known silent c.2808 p.R936 0.991 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 tier1 - - 88 0 0.00 60 13 17.81 47 0 0.00 68 6 8.11 LOC100132891 0 genome.wustl.edu 37 8 72967429 72967436 + R DEL AGAATATT AGAATATT - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 AGAATATT AGAATATT AGAATATT - AGAATATT AGAATATT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 8 72967429 72967436 AGAATATT - DEL LOC100132891 ENST00000457356 human ensembl 74_37 +1 known rna NULL NULL 0.376:0.321:0.267:0.212:0.159:0.106:0.053:0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 tier1 12 1 7.69 32 13 28.89 12 1 7.69 32 13 28.89 BRD9 0 genome.wustl.edu 37 5 891803 891805 + In_Frame_Del DEL CTT CTT - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 5 891803 891805 CTT - DEL BRD9 ENST00000467963 human ensembl 74_37 -1 known in_frame_del c.219_217 p.K73in_frame_del 0.975:1.000:1.000 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 tier1 94 0 0.00 16 2 11.11 23 0 0.00 3 0 0.00 CYP11B1 0 genome.wustl.edu 37 8 143956378 143956380 + In_Frame_Del DEL GCA GCA - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 8 143956378 143956380 GCA - DEL CYP11B1 ENST00000292427 human ensembl 74_37 -1 known in_frame_del c.1393_1391 p.L464in_frame_del 1.000:1.000:1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 78 0 0.00 30 4 11.76 6 0 0.00 5 0 0.00 EMC7 0 genome.wustl.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 15 34393991 34393993 AGC - DEL EMC7 ENST00000256545 human ensembl 74_37 -1 known in_frame_del c.50_48 p.L17in_frame_del 0.275:0.430:0.449 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold - no_errors EMC7 HGNC ENSG00000134153 tier1 47 0 0.00 14 2 12.50 11 0 0.00 8 0 0.00 ZNF395 0 genome.wustl.edu 37 8 28207583 28207584 + Frame_Shift_Del DEL GA GA - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 8 28207583 28207584 GA - DEL ZNF395 ENST00000344423 human ensembl 74_37 -1 known frame_shift_del c.1324_1323 p.P442fs 1.000:0.971 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 tier1 45 0 0.00 18 3 14.29 9 0 0.00 4 0 0.00 DMRTB1 0 genome.wustl.edu 37 1 53925373 53925374 + In_Frame_Ins INS - - CCGCCC TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 1 53925373 53925374 - CCGCCC INS DMRTB1 ENST00000371445 human ensembl 74_37 +1 known in_frame_ins c.247_248 p.87in_frame_insPA 0.002:0.001 NULL pfam_DM_D-bd,superfamily_DM_D-bd,smart_DM_D-bd,pfscan_DM_D-bd - no_errors DMRTB1 HGNC ENSG00000143006 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221704 0 genome.wustl.edu 37 2 236480576 236480577 + R INS - - TGTGTGTGTGTG TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 2 236480576 236480577 - TGTGTGTGTGTG 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 KRT18 0 genome.wustl.edu 37 12 53343288 53343288 + Frame_Shift_Del DEL A A - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 12 53343288 53343288 A - DEL KRT18 ENST00000388835 human ensembl 74_37 +1 known frame_shift_del c.331 p.I112fs 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 tier1 53 0 0.00 21 2 8.70 0 0 0.00 0 0 0.00 RRAGD 0 genome.wustl.edu 37 6 90121645 90121647 + In_Frame_Del DEL TCC TCC - TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 6 90121645 90121647 TCC - DEL RRAGD ENST00000369415 human ensembl 74_37 -1 known in_frame_del c.68_66 p.E22in_frame_del 0.998:1.000:0.999 NULL pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGD HGNC ENSG00000025039 tier1 39 0 0.00 18 2 10.00 2 0 0.00 1 0 0.00 DPP10 0 genome.wustl.edu 37 2 116510794 116510794 + Missense_Mutation SNP C C A TCGA-3B-A9I0-01A-11D-A38Z-09 TCGA-3B-A9I0-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ead7c3-30d8-4812-ab42-1b53baf2b5ae fa1a7e55-1d0b-430d-88b4-c845358435dc 2 116510794 116510794 C A SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1007 p.T336N 0.969 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 62 0 0.00 91 9 9.00 48 0 0.00 101 3 2.88