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 SYNE2 0 genome.wustl.edu 37 14 64445579 64445579 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 14 64445579 64445579 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.1416 p.N472 0.989 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 69 0 0.00 65 28 30.11 41 0 0.00 60 30 33.33 LHX1 0 genome.wustl.edu 37 17 35300104 35300104 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 17 35300104 35300104 C T SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known silent c.897 p.G299 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 tier1 - - 16 0 0.00 28 7 20.00 24 0 0.00 27 6 17.65 REN 0 genome.wustl.edu 37 1 204125025 204125025 + Missense_Mutation SNP C C G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 1 204125025 204125025 C G SNP REN ENST00000272190 human ensembl 74_37 -1 known missense c.982 p.G328R 0.228 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors REN HGNC ENSG00000143839 tier1 - - 55 0 0.00 41 32 43.84 28 0 0.00 30 42 56.76 HAVCR1 0 genome.wustl.edu 37 5 156482487 156482487 + Missense_Mutation SNP G G T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 5 156482487 156482487 G T SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known missense c.104 p.P35H 0.958 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 tier1 - - 35 0 0.00 65 16 19.75 41 0 0.00 69 9 11.54 MEF2B 0 genome.wustl.edu 37 19 19260125 19260125 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 19260125 19260125 C T SNP MEF2B ENST00000162023 human ensembl 74_37 -1 known silent c.168 p.Q56 1.000 pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 tier1 - - 60 0 0.00 91 16 14.95 23 0 0.00 54 8 12.90 PKLR 0 genome.wustl.edu 37 1 155263113 155263113 + Missense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 1 155263113 155263113 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.1291 p.A431T 0.998 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 tier1 - - 65 0 0.00 114 11 8.80 24 0 0.00 84 21 20.00 ZNF852 0 genome.wustl.edu 37 3 44541497 44541497 + Missense_Mutation SNP G G A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 3 44541497 44541497 G A SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known missense c.772 p.L258F 0.007 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF852 HGNC ENSG00000178917 tier1 - - 55 0 0.00 49 22 30.56 15 0 0.00 39 8 17.02 CHAF1A 0 genome.wustl.edu 37 19 4430604 4430604 + Missense_Mutation SNP A A G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 4430604 4430604 A G SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.1913 p.H638R 1.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 - - 55 0 0.00 64 18 21.95 98 0 0.00 91 37 28.91 TUBGCP3 0 genome.wustl.edu 37 13 113153364 113153364 + Missense_Mutation SNP T T A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 13 113153364 113153364 T A SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.2443 p.I815F 0.001 NULL pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 tier1 - - 47 0 0.00 87 26 23.01 56 0 0.00 138 36 20.69 COL18A1 0 genome.wustl.edu 37 21 46925093 46925093 + Missense_Mutation SNP C C A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 21 46925093 46925093 C A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4159 p.P1387T 1.000 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 70 0 0.00 83 15 15.31 17 0 0.00 23 4 14.81 XIRP2 0 genome.wustl.edu 37 2 168104932 168104932 + Missense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 2 168104932 168104932 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7030 p.L2344F 0.921 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 53 0 0.00 56 15 21.13 53 0 0.00 58 12 17.14 FBXO3 0 genome.wustl.edu 37 11 33773135 33773135 + Nonsense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 11 33773135 33773135 C T SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known nonsense c.743 p.W248* 1.000 smart_SMI1/KNR4_like_dom pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 tier1 - - 51 0 0.00 82 11 11.83 55 0 0.00 81 18 18.18 DYM 0 genome.wustl.edu 37 18 46860165 46860165 + Missense_Mutation SNP A A C TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 18 46860165 46860165 A C SNP DYM ENST00000269445 human ensembl 74_37 -1 known missense c.553 p.C185G 1.000 pfam_Dymeclin pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 tier1 - - 31 0 0.00 34 21 38.18 52 0 0.00 66 33 33.00 LAPTM5 0 genome.wustl.edu 37 1 31210526 31210526 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 1 31210526 31210526 C T SNP LAPTM5 ENST00000294507 human ensembl 74_37 -1 known silent c.531 p.E177 0.283 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 - no_errors LAPTM5 HGNC ENSG00000162511 tier1 - - 45 0 0.00 52 14 21.21 47 0 0.00 76 10 11.63 SCAMP5 0 genome.wustl.edu 37 15 75305127 75305127 + Missense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 15 75305127 75305127 C T SNP SCAMP5 ENST00000545456 human ensembl 74_37 +1 known missense c.61 p.P21S 0.998 NULL pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 tier1 - - 33 0 0.00 62 18 22.50 43 0 0.00 87 15 14.71 SLC17A6 0 genome.wustl.edu 37 11 22391670 22391670 + Missense_Mutation SNP T T C TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 11 22391670 22391670 T C SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.977 p.F326S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 77 0 0.00 95 23 19.49 35 0 0.00 72 13 15.29 PCDHA6 0 genome.wustl.edu 37 5 140209098 140209098 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 5 140209098 140209098 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1422 p.I474 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 rs146722468 - 284 0 0.00 261 66 20.18 28 0 0.00 13 3 18.75 ADAM21 0 genome.wustl.edu 37 14 70924558 70924558 + Nonsense_Mutation SNP C C G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 14 70924558 70924558 C G SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known nonsense c.342 p.Y114* 0.288 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 tier1 - - 36 0 0.00 60 9 13.04 71 0 0.00 119 26 17.93 OR56A3 0 genome.wustl.edu 37 11 5969021 5969021 + Missense_Mutation SNP G G A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 11 5969021 5969021 G A SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known missense c.445 p.A149T 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 OR56A3 HGNC ENSG00000184478 tier1 - - 39 0 0.00 43 11 20.37 89 0 0.00 105 19 15.32 COL28A1 0 genome.wustl.edu 37 7 7571327 7571327 + Missense_Mutation SNP C C G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 7 7571327 7571327 C G SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.333 p.W111C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 tier1 - - 23 0 0.00 43 11 20.37 53 0 0.00 118 25 17.36 CCDC146 0 genome.wustl.edu 37 7 76912006 76912006 + Missense_Mutation SNP G G A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 7 76912006 76912006 G A SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.2052 p.M684I 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 tier1 - - 54 0 0.00 85 13 13.27 34 0 0.00 70 18 20.22 ZNF467 0 genome.wustl.edu 37 7 149461979 149461979 + Missense_Mutation SNP T T C TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 7 149461979 149461979 T C SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.1612 p.T538A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 tier1 - - 132 0 0.00 178 30 14.42 28 0 0.00 21 3 12.50 KPNB1 0 genome.wustl.edu 37 17 45735974 45735974 + Missense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 17 45735974 45735974 C T SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.584 p.T195M 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 tier1 - - 35 0 0.00 31 11 26.19 58 0 0.00 55 11 16.67 HERC2P3 0 genome.wustl.edu 37 15 20588706 20588706 + R SNP T T C TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 15 20588706 20588706 T C SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 76 0 0.00 78 22 21.78 15 0 0.00 29 6 17.14 POLD1 0 genome.wustl.edu 37 19 50912435 50912435 + Missense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 50912435 50912435 C T SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.1949 p.S650L 0.089 pfam_D-dir_D_pol_B_multi_dom,smart_D-dir_D_pol_B,tigrfam_D-dir_D_pol_B_pol2 pfam_D-dir_D_pol_B_multi_dom,pfam_D-dir_D_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B,prints_D-dir_D_pol_B,tigrfam_D-dir_D_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 tier1 - - 30 0 0.00 49 20 28.99 52 0 0.00 77 29 27.36 SLC9A3 0 genome.wustl.edu 37 5 482667 482667 + Missense_Mutation SNP A A T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 5 482667 482667 A T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.1352 p.F451Y 0.992 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 tier1 - - 124 0 0.00 163 17 9.39 71 0 0.00 73 10 12.05 IGFALS 0 genome.wustl.edu 37 16 1840734 1840734 + Missense_Mutation SNP A A G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 16 1840734 1840734 A G SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known missense c.1799 p.V600A 0.810 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 tier1 - - 242 0 0.00 241 108 30.95 36 0 0.00 44 18 28.57 ERGIC1 0 genome.wustl.edu 37 5 172362219 172362219 + Missense_Mutation SNP G G A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 5 172362219 172362219 G A SNP ERGIC1 ENST00000393784 human ensembl 74_37 +1 known missense c.671 p.R224H 1.000 pfam_Erv_C pfam_Erv_C - no_errors ERGIC1 HGNC ENSG00000113719 tier1 - - 78 0 0.00 161 30 15.62 30 0 0.00 64 10 13.51 RARB 0 genome.wustl.edu 37 3 25502747 25502747 + Missense_Mutation SNP C C G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 3 25502747 25502747 C G SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.242 p.P81R 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 tier1 - - 44 0 0.00 75 15 16.67 48 0 0.00 135 23 14.56 POM121L12 0 genome.wustl.edu 37 7 53103958 53103958 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 7 53103958 53103958 C T SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known silent c.594 p.F198 0.001 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 tier1 - - 80 0 0.00 199 31 13.42 46 0 0.00 40 16 28.57 ZNF99 0 genome.wustl.edu 37 19 22942170 22942170 + Missense_Mutation SNP A A T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 22942170 22942170 A T SNP ZNF99 ENST00000596209 human ensembl 74_37 -1 novel missense c.541 p.S181T 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF99 HGNC ENSG00000213973 tier1 - - 72 0 0.00 45 22 32.84 4 0 0.00 15 7 31.82 CEACAMP10 0 genome.wustl.edu 37 19 43752792 43752792 + R SNP T T C TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 43752792 43752792 T C SNP CEACAMP10 ENST00000489959 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CEACAMP10 HGNC ENSG00000241104 tier1 - - 34 0 0.00 31 16 34.04 8 0 0.00 14 4 22.22 PCSK9 0 genome.wustl.edu 37 1 55523034 55523034 + Missense_Mutation SNP G G T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 1 55523034 55523034 G T SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known missense c.1027 p.D343Y 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 tier1 - - 55 0 0.00 69 21 23.33 53 0 0.00 106 21 16.54 GGCX 0 genome.wustl.edu 37 2 85780578 85780578 + Missense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 2 85780578 85780578 C T SNP GGCX ENST00000233838 human ensembl 74_37 -1 known missense c.932 p.C311Y 1.000 pfam_VKG_COase,smart_HTTM pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 tier1 - - 12 0 0.00 12 6 33.33 27 0 0.00 42 12 22.22 CHD9 0 genome.wustl.edu 37 16 53191180 53191180 + Silent SNP A A G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 16 53191180 53191180 A G SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.1179 p.Q393 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD9 HGNC ENSG00000177200 tier1 - - 45 0 0.00 28 34 54.84 39 0 0.00 44 27 38.03 DGCR2 0 genome.wustl.edu 37 22 19055725 19055725 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 22 19055725 19055725 C T SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known silent c.216 p.E72 0.047 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 tier1 - - 51 0 0.00 77 46 37.40 55 0 0.00 47 11 18.97 RARS 0 genome.wustl.edu 37 5 167929104 167929104 + Missense_Mutation SNP G G C TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 5 167929104 167929104 G C SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.1051 p.D351H 1.000 pfam_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia pfam_Arg-tR-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tR-synth_N,superfamily_tRsynth_1a_anticodon-bd,superfamily_Arg-tR-synth_N,smart_DALR_anticod-bd,prints_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia - no_errors RARS HGNC ENSG00000113643 tier1 - - 66 0 0.00 63 11 14.67 32 0 0.00 67 11 14.10 CHST8 0 genome.wustl.edu 37 19 34263881 34263881 + Silent SNP G G A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 34263881 34263881 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known silent c.1188 p.S396 0.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 tier1 - - 44 0 0.00 41 30 42.25 60 0 0.00 87 45 34.09 RSBN1 0 genome.wustl.edu 37 1 114308661 114308661 + Frame_Shift_Del DEL T T - TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 1 114308661 114308661 T - DEL RSBN1 ENST00000261441 human ensembl 74_37 -1 known frame_shift_del c.2350 p.S784fs 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 tier1 81 0 0.00 79 22 21.78 59 0 0.00 79 23 22.55 PRKCG 0 genome.wustl.edu 37 19 54409605 54409605 + Nonsense_Mutation SNP C C A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 54409605 54409605 C A SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known nonsense c.1799 p.S600* 0.810 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 tier1 - - 52 0 0.00 97 12 11.01 72 0 0.00 106 7 6.19 DOCK9 0 genome.wustl.edu 37 13 99461377 99461377 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 13 99461377 99461377 C T SNP DOCK9 ENST00000376460 human ensembl 74_37 -1 known silent c.5373 p.A1791 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 tier1 - - 39 0 0.00 60 7 10.45 27 0 0.00 80 7 8.05 HAPLN3 0 genome.wustl.edu 37 15 89436251 89436251 + Missense_Mutation SNP A A T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 15 89436251 89436251 A T SNP HAPLN3 ENST00000562889 human ensembl 74_37 -1 novel missense c.93 p.S31R 0.000 NULL pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 tier1 - - 52 0 0.00 49 5 9.26 114 0 0.00 115 9 7.20 RASGEF1C 0 genome.wustl.edu 37 5 179564684 179564684 + Missense_Mutation SNP C C A TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 5 179564684 179564684 C A SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.206 p.S69I 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 tier1 - - 26 0 0.00 32 8 20.00 44 1 2.22 65 17 20.73 PARG 0 genome.wustl.edu 37 10 51041063 51041064 + R INS - - T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 10 51041063 51041064 - T INS PARG ENST00000492350 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PARG HGNC ENSG00000227345 tier1 20 0 0.00 22 3 12.00 33 1 2.94 64 9 12.33 ENSG00000266156 0 genome.wustl.edu 37 19 20988369 20988370 + R INS - - T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 20988369 20988370 - T INS ENSG00000266156 ENST00000582722 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 tier1 13 0 0.00 16 2 11.11 8 0 0.00 6 0 0.00 OBSCN 0 genome.wustl.edu 37 1 228451874 228451874 + Missense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 1 228451874 228451874 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.4643 p.A1548V 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 137 0 0.00 104 29 21.80 5 0 0.00 0 1 100.00 AGGF1 0 genome.wustl.edu 37 5 76332520 76332520 + Missense_Mutation SNP A A G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 5 76332520 76332520 A G SNP AGGF1 ENST00000312916 human ensembl 74_37 +1 known missense c.656 p.H219R 1.000 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 tier1 - - 50 0 0.00 35 17 32.69 0 0 0.00 0 0 0.00 APC2 0 genome.wustl.edu 37 9 140070016 140070016 + R SNP G G C TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 9 140070016 140070016 G C SNP APC2 ENST00000483432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors APC2 HGNC ENSG00000176248 tier1 - - 55 0 0.00 71 12 14.29 1 0 0.00 2 0 0.00 ENSG00000237357 0 genome.wustl.edu 37 9 44403192 44403192 + R SNP C C G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 9 44403192 44403192 C G SNP ENSG00000237357 ENST00000425309 human ensembl 74_37 +1 known rna NULL NULL 0.242 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000237357 tier1 - - 40 0 0.00 53 8 13.11 0 0 0.00 0 0 0.00 JPH1 0 genome.wustl.edu 37 8 75227796 75227796 + Missense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 8 75227796 75227796 C T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.439 p.V147M 1.000 smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 tier1 - - 20 0 0.00 12 3 20.00 3 0 0.00 4 0 0.00 SPPL2B 0 genome.wustl.edu 37 19 2341094 2341101 + R DEL CTCCCTGG CTCCCTGG - TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 CTCCCTGG CTCCCTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7768147-81e0-42bd-aa71-2a835e66dbe4 e6bb0106-9ac8-4f88-b90b-01e3b3269f2f 19 2341094 2341101 CTCCCTGG - DEL SPPL2B ENST00000592738 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.010:0.001:0.000:0.000:0.001:0.000 - - - no_errors SPPL2B HGNC ENSG00000005206 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00