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 ELL2 0 genome.wustl.edu 37 5 95236750 95236750 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 5 95236750 95236750 G A SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.776 p.T259I 1.000 pfam_R_pol_II_elong_fac_ELL pfam_R_pol_II_elong_fac_ELL,pfam_Occludin_Rpol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 tier1 - - 43 0 0.00 29 25 46.30 94 0 0.00 57 31 34.83 HCN1 0 genome.wustl.edu 37 5 45695937 45695937 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 5 45695937 45695937 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.259 p.P87S 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 37 0 0.00 25 12 31.58 31 0 0.00 13 7 35.00 KIAA1217 0 genome.wustl.edu 37 10 24832973 24832973 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 10 24832973 24832973 G A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.4774 p.G1592R 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 66 0 0.00 74 41 35.65 115 0 0.00 100 52 34.21 TCHHL1 0 genome.wustl.edu 37 1 152057988 152057988 + Missense_Mutation SNP G G T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 1 152057988 152057988 G T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.2170 p.L724I 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 33 0 0.00 28 24 46.15 112 0 0.00 102 42 29.17 FBXO5 0 genome.wustl.edu 37 6 153292351 153292351 + Missense_Mutation SNP T T C TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 6 153292351 153292351 T C SNP FBXO5 ENST00000229758 human ensembl 74_37 -1 known missense c.1291 p.I431V 0.304 NULL pfam_F-box_dom,superfamily_F-box_dom - no_errors FBXO5 HGNC ENSG00000112029 tier1 - - 83 0 0.00 317 33 9.43 92 0 0.00 236 38 13.82 PEG3 0 genome.wustl.edu 37 19 57336013 57336013 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 19 57336013 57336013 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.11 p.P4L 0.932 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 36 0 0.00 43 12 21.82 141 0 0.00 101 59 36.88 PTCHD2 0 genome.wustl.edu 37 1 11595642 11595642 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 1 11595642 11595642 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3757 p.V1253I 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 rs200620988 - 87 0 0.00 57 31 35.23 46 0 0.00 19 11 36.67 SDR39U1 0 genome.wustl.edu 37 14 24911572 24911572 + Missense_Mutation SNP C C T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 14 24911572 24911572 C T SNP SDR39U1 ENST00000399395 human ensembl 74_37 -1 known missense c.103 p.G35R 0.697 pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 tier1 - - 74 0 0.00 73 29 28.43 71 0 0.00 36 21 36.84 PRKCB 0 genome.wustl.edu 37 16 24192129 24192129 + Silent SNP C C T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 16 24192129 24192129 C T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.1413 p.N471 0.577 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_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,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 56 0 0.00 67 30 30.93 109 0 0.00 74 27 26.73 MPO 0 genome.wustl.edu 37 17 56348017 56348017 + Nonstop_Mutation SNP C C A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 17 56348017 56348017 C A SNP MPO ENST00000340482 human ensembl 74_37 -1 known nonstop c.2334 p.*778Y 0.724 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 - - 26 0 0.00 22 13 37.14 88 0 0.00 71 43 37.72 DH9 0 genome.wustl.edu 37 17 11725755 11725755 + Missense_Mutation SNP G G T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 17 11725755 11725755 G T SNP DH9 ENST00000262442 human ensembl 74_37 +1 known missense c.8851 p.V2951L 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 - - 39 0 0.00 36 22 37.93 95 0 0.00 70 35 33.33 GPRASP2 0 genome.wustl.edu 37 X 101970023 101970023 + Missense_Mutation SNP A A T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 X 101970023 101970023 A T SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.226 p.T76S 0.894 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 tier1 - - 12 0 0.00 8 19 70.37 73 0 0.00 28 65 69.89 FOXS1 0 genome.wustl.edu 37 20 30432800 30432800 + Silent SNP A A G TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 20 30432800 30432800 A G SNP FOXS1 ENST00000375978 human ensembl 74_37 -1 known silent c.546 p.T182 0.527 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 tier1 - - 51 0 0.00 45 15 25.00 41 0 0.00 36 10 21.74 DUSP27 0 genome.wustl.edu 37 1 167097263 167097263 + Silent SNP G G T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 1 167097263 167097263 G T SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known silent c.2895 p.S965 0.003 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 45 0 0.00 50 24 32.43 129 0 0.00 96 35 26.72 THBS3 0 genome.wustl.edu 37 1 155176138 155176138 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 1 155176138 155176138 G A SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.139 p.R47W 1.000 smart_Laminin_G pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 tier1 - - 25 0 0.00 25 17 40.48 90 0 0.00 55 20 26.32 GRIN2A 0 genome.wustl.edu 37 16 10273944 10273944 + Missense_Mutation SNP C C T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 16 10273944 10273944 C T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.325 p.V109I 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 tier1 - - 49 0 0.00 55 29 34.52 83 0 0.00 48 29 37.66 SELP 0 genome.wustl.edu 37 1 169586354 169586354 + Silent SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 1 169586354 169586354 G A SNP SELP ENST00000263686 human ensembl 74_37 -1 known silent c.393 p.C131 0.801 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 tier1 - - 76 0 0.00 70 33 32.04 99 0 0.00 101 47 31.76 CTBP2 0 genome.wustl.edu 37 10 126715438 126715438 + Silent SNP C C A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 10 126715438 126715438 C A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known silent c.891 p.L297 1.000 NULL pfam_D-isomer_2_OHA_DH_D-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 - - 19 0 0.00 8 7 46.67 42 0 0.00 24 15 38.46 HHLA1 0 genome.wustl.edu 37 8 133090154 133090154 + Silent SNP C C T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 8 133090154 133090154 C T SNP HHLA1 ENST00000414222 human ensembl 74_37 -1 known silent c.990 p.S330 0.000 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 tier1 - - 42 0 0.00 27 14 34.15 71 1 1.37 58 35 37.63 KIAA1456 0 genome.wustl.edu 37 8 12879396 12879396 + Missense_Mutation SNP T T C TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 8 12879396 12879396 T C SNP KIAA1456 ENST00000524591 human ensembl 74_37 +1 known missense c.1208 p.L403S 0.001 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 HGNC ENSG00000250305 tier1 - - 20 0 0.00 21 13 38.24 61 0 0.00 53 19 26.39 OR5J2 0 genome.wustl.edu 37 11 55944659 55944659 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 11 55944659 55944659 G A SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.566 p.C189Y 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 tier1 - - 51 0 0.00 32 21 39.62 30 0 0.00 39 15 27.78 TMEM178B 0 genome.wustl.edu 37 7 141170396 141170396 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 7 141170396 141170396 G A SNP TMEM178B ENST00000565468 human ensembl 74_37 +1 putative missense c.695 p.R232H 1.000 NULL NULL - no_errors TMEM178B HGNC ENSG00000261115 tier1 - - 28 0 0.00 50 13 20.63 79 0 0.00 55 22 28.57 MROH2B 0 genome.wustl.edu 37 5 41015559 41015559 + Missense_Mutation SNP C C T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 5 41015559 41015559 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.2906 p.R969K 0.817 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 59 0 0.00 48 27 36.00 134 0 0.00 77 34 30.36 ZNF280A 0 genome.wustl.edu 37 22 22869108 22869108 + Missense_Mutation SNP G G C TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 22 22869108 22869108 G C SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known missense c.847 p.Q283E 0.262 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 tier1 - - 91 0 0.00 60 18 23.08 45 0 0.00 37 7 15.91 ACSBG1 0 genome.wustl.edu 37 15 78500436 78500436 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 15 78500436 78500436 G A SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known missense c.140 p.T47I 0.002 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 tier1 - - 33 0 0.00 20 14 41.18 87 0 0.00 48 18 27.27 EPG5 0 genome.wustl.edu 37 18 43432446 43432446 + Missense_Mutation SNP C C G TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 18 43432446 43432446 C G SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.7726 p.D2576H 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 68 0 0.00 158 49 23.56 164 0 0.00 199 86 30.07 KLF6 0 genome.wustl.edu 37 10 3824222 3824223 + Frame_Shift_Ins INS - - A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 10 3824222 3824223 - A INS KLF6 ENST00000497571 human ensembl 74_37 -1 known frame_shift_ins c.287_286 p.C96fs 0.628:0.578 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 tier1 34 0 0.00 27 22 44.90 86 0 0.00 83 22 20.95 KDM2A 0 genome.wustl.edu 37 11 67023822 67023823 + R INS - - A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 11 67023822 67023823 - A INS KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 22 0 0.00 29 6 17.14 18 0 0.00 23 3 11.54 NPTN 0 genome.wustl.edu 37 15 73858110 73858110 + Splice_Site DEL C C - TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 15 73858110 73858110 C - DEL NPTN ENST00000545878 human ensembl 74_37 -1 known splice_site_del c.1122+1 e7+1 0.000 - - - no_errors NPTN HGNC ENSG00000156642 tier1 48 0 0.00 45 25 35.71 136 0 0.00 78 30 27.78 KIAA1432 0 genome.wustl.edu 37 9 5774107 5774107 + Frame_Shift_Del DEL G G - TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 9 5774107 5774107 G - DEL KIAA1432 ENST00000418622 human ensembl 74_37 +1 known frame_shift_del c.3896 p.G1300fs 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 tier1 56 0 0.00 39 31 44.29 62 0 0.00 29 19 39.58 FHDC1 0 genome.wustl.edu 37 4 153897251 153897251 + Silent SNP T T C TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 4 153897251 153897251 T C SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known silent c.2808 p.D936 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 tier1 - - 52 0 0.00 19 7 26.92 28 0 0.00 9 4 30.77 ENSG00000272231 0 genome.wustl.edu 37 12 74293705 74293712 + R DEL CACACACA CACACACA - TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 CACACACA CACACACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 12 74293705 74293712 CACACACA - DEL ENSG00000272231 ENST00000606199 human ensembl 74_37 +1 novel rna NULL NULL 0.029:0.033:0.036:0.039:0.041:0.043:0.044:0.045 - - - no_errors AC136188.1 Clone_based_ensembl_gene ENSG00000272231 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 FRG2B 0 genome.wustl.edu 37 10 135439803 135439803 + Silent SNP C C T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 10 135439803 135439803 C T SNP FRG2B ENST00000425520 human ensembl 74_37 -1 known silent c.183 p.S61 0.213 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 tier1 rs202189720 - 8 0 0.00 8 6 42.86 0 0 0.00 0 0 0.00 SPEG 0 genome.wustl.edu 37 2 220330658 220330661 + R DEL TGCA TGCA - TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 TGCA TGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 2 220330658 220330661 TGCA - DEL SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.005:0.000:0.000 - - - no_errors SPEG HGNC ENSG00000072195 tier1 12 0 0.00 15 7 31.82 0 0 0.00 0 0 0.00 SRRM4 0 genome.wustl.edu 37 12 119594485 119594485 + Missense_Mutation SNP G G A TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 12 119594485 119594485 G A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1718 p.R573H 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 tier1 - - 15 0 0.00 20 17 45.95 0 0 0.00 0 0 0.00 TTC40 0 genome.wustl.edu 37 10 134660723 134660723 + Missense_Mutation SNP C C T TCGA-DX-AB2G-01A-11D-A38Z-09 TCGA-DX-AB2G-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b779d1d-4305-4534-bbce-2ed53f2269c0 b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4 10 134660723 134660723 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.538 p.E180K 0.003 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 46 0 0.00 52 24 31.58 1 0 0.00 2 1 33.33