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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ALPK3 0 genome.wustl.edu 37 15 85382261 85382262 + Frame_Shift_Ins INS - - A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 15 85382261 85382262 - A INS ALPK3 ENST00000258888 human ensembl 69_37n +1 known frame_shift_ins c.961_962 p.R321fs 1.000:1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 13 0 0.00 12 16 57.14 - - - ARFGEF1 0 genome.wustl.edu 37 8 68179153 68179153 + Missense_Mutation SNP T T C TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 8 68179153 68179153 T C SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known missense c.1879 p.S627G 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 90 0 0.00 104 61 36.97 - - - ARHGEF15 0 genome.wustl.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 17 8224297 8224298 - C INS ARHGEF15 ENST00000361926 human ensembl 69_37n +1 known frame_shift_ins c.2512_2513 p.P841fs 0.000:0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 17 0 0.00 34 4 10.53 - - - ARHGEF5 0 genome.wustl.edu 37 7 144061486 144061486 + Missense_Mutation SNP C C A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 7 144061486 144061486 C A SNP ARHGEF5 ENST00000056217 human ensembl 69_37n +1 known missense c.1724 p.P575Q 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 35 0 0.00 34 5 12.82 - - - BCL9 0 genome.wustl.edu 37 1 147092581 147092581 + Missense_Mutation SNP C C G TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 1 147092581 147092581 C G SNP BCL9 ENST00000234739 human ensembl 69_37n +1 known missense c.2620 p.P874A 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 106 0 0.00 195 27 12.16 - - - BRI3BP 0 genome.wustl.edu 37 12 125509844 125509845 + Frame_Shift_Ins INS - - G TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 12 125509844 125509845 - G INS BRI3BP ENST00000341446 human ensembl 69_37n +1 known frame_shift_ins c.624_625 p.P208fs 0.982:0.979 NULL NULL - no_errors BRI3BP HGNC ENSG00000184992 17 0 0.00 12 5 29.41 - - - CEP350 0 genome.wustl.edu 37 1 180062453 180062453 + Missense_Mutation SNP C C T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 1 180062453 180062453 C T SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.7213 p.L2405F 0.019 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 32 0 0.00 44 11 20.00 - - - CHSY3 0 genome.wustl.edu 37 5 129243904 129243904 + Missense_Mutation SNP C C G TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 5 129243904 129243904 C G SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known missense c.937 p.P313A 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 53 0 0.00 24 12 33.33 - - - COL11A2 0 genome.wustl.edu 37 6 33152074 33152075 + Frame_Shift_Ins INS - - G TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 6 33152074 33152075 - G INS COL11A2 ENST00000341947 human ensembl 69_37n -1 known frame_shift_ins c.967_966 p.T322fs 0.999:0.989 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 14 0 0.00 16 3 15.79 - - - CXorf22 0 genome.wustl.edu 37 X 35993847 35993847 + Missense_Mutation SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d X 35993847 35993847 G A SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known missense c.2530 p.V844I 0.004 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 183 0 0.00 224 50 18.25 - - - DACT3 0 genome.wustl.edu 37 19 47151768 47151768 + Missense_Mutation SNP C C A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 19 47151768 47151768 C A SNP DACT3 ENST00000391916 human ensembl 69_37n -1 known missense c.1861 p.G621C 0.999 NULL NULL - no_errors DACT3 HGNC ENSG00000197380 199 1 0.50 250 61 19.61 - - - DCHS1 0 genome.wustl.edu 37 11 6646655 6646655 + Missense_Mutation SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 11 6646655 6646655 G A SNP DCHS1 ENST00000299441 human ensembl 69_37n -1 known missense c.6920 p.P2307L 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 56 0 0.00 32 5 13.51 - - - DCHS2 0 genome.wustl.edu 37 4 155219117 155219117 + Missense_Mutation SNP T T A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 4 155219117 155219117 T A SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.4984 p.I1662F 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 106 1 0.93 27 79 74.53 - - - DKK3 0 genome.wustl.edu 37 11 11986224 11986225 + Frame_Shift_Ins INS - - A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 11 11986224 11986225 - A INS DKK3 ENST00000326932 human ensembl 69_37n -1 known frame_shift_ins c.840_839 p.V281fs 0.998:1.000 NULL pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 29 0 0.00 21 14 40.00 - - - DSCAM 0 genome.wustl.edu 37 21 42080507 42080507 + Silent SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 21 42080507 42080507 G A SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.234 p.N78 1.000 smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 108 0 0.00 107 35 24.48 - - - DUS3L 0 genome.wustl.edu 37 19 5789306 5789307 + Frame_Shift_Ins INS - - C TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 19 5789306 5789307 - C INS DUS3L ENST00000309061 human ensembl 69_37n -1 known frame_shift_ins c.812_811 p.T271fs 0.000:0.000 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 8 0 0.00 9 5 35.71 - - - EPHB6 0 genome.wustl.edu 37 7 142568064 142568064 + Missense_Mutation SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 7 142568064 142568064 G A SNP EPHB6 ENST00000392957 human ensembl 69_37n +1 known missense c.2705 p.R902H 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 111 0 0.00 112 33 22.76 - - - FCAR 0 genome.wustl.edu 37 19 55399582 55399582 + Frame_Shift_Del DEL C C - TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 19 55399582 55399582 C - DEL FCAR ENST00000355524 human ensembl 69_37n +1 known frame_shift_del c.570 p.Y191fs 0.012 smart_Ig_sub smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 24 0 0.00 47 39 44.83 - - - IKBKAP 0 genome.wustl.edu 37 9 111668755 111668755 + Missense_Mutation SNP C C T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 9 111668755 111668755 C T SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known missense c.1471 p.E491K 0.990 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 149 0 0.00 182 38 17.27 - - - KCNA6 0 genome.wustl.edu 37 12 4919672 4919672 + Silent SNP C C T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 12 4919672 4919672 C T SNP KCNA6 ENST00000280684 human ensembl 69_37n +1 known silent c.465 p.P155 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 52 0 0.00 25 8 24.24 - - - KCNJ12 0 genome.wustl.edu 37 17 21318782 21318782 + Missense_Mutation SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 17 21318782 21318782 G A SNP KCNJ12 ENST00000331718 human ensembl 69_37n +1 known missense c.128 p.R43H 1.000 pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 8 0 0.00 18 7 28.00 - - - KCNK9 0 genome.wustl.edu 37 8 140631121 140631121 + Missense_Mutation SNP C C T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 8 140631121 140631121 C T SNP KCNK9 ENST00000303015 human ensembl 69_37n -1 known missense c.505 p.G169R 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 48 0 0.00 41 34 45.33 - - - KIAA0922 0 genome.wustl.edu 37 4 154553903 154553904 + Frame_Shift_Ins INS - - G TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 4 154553903 154553904 - G INS KIAA0922 ENST00000409959 human ensembl 69_37n +1 known frame_shift_ins c.4241_4242 p.P1415fs 0.989:0.992 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 28 0 0.00 30 6 16.67 - - - LMO7 0 genome.wustl.edu 37 13 76382190 76382190 + Missense_Mutation SNP C C T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 13 76382190 76382190 C T SNP LMO7 ENST00000357063 human ensembl 69_37n +1 known missense c.1927 p.R643C 0.999 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 51 0 0.00 40 54 57.45 - - - LRBA 0 genome.wustl.edu 37 4 151392779 151392779 + Missense_Mutation SNP C C T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 4 151392779 151392779 C T SNP LRBA ENST00000357115 human ensembl 69_37n -1 known missense c.6697 p.A2233T 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 97 0 0.00 70 43 38.05 - - - MAP4 0 genome.wustl.edu 37 3 47894422 47894423 + Frame_Shift_Ins INS - - G TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 3 47894422 47894423 - G INS MAP4 ENST00000395734 human ensembl 69_37n -1 known frame_shift_ins c.3268_3267 p.T1089fs 1.000:1.000 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 14 0 0.00 14 18 56.25 - - - OBSL1 0 genome.wustl.edu 37 2 220427290 220427292 + In_Frame_Del DEL CAC CAC - TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 2 220427290 220427292 CAC - DEL OBSL1 ENST00000404537 human ensembl 69_37n -1 known in_frame_del c.2787_2785 p.V929in_frame_del 1.000:1.000:1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 13 0 0.00 10 5 33.33 - - - OR5T1 0 genome.wustl.edu 37 11 56043133 56043133 + Missense_Mutation SNP G G T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 11 56043133 56043133 G T SNP OR5T1 ENST00000313033 human ensembl 69_37n +1 known missense c.19 p.D7Y 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 332 0 0.00 439 80 15.41 - - - OR6B1 0 genome.wustl.edu 37 7 143701799 143701799 + Missense_Mutation SNP C C T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 7 143701799 143701799 C T SNP OR6B1 ENST00000408922 human ensembl 69_37n +1 known missense c.710 p.S237F 0.159 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6B1 HGNC ENSG00000221813 162 0 0.00 177 47 20.98 - - - OR8B8 0 genome.wustl.edu 37 11 124310466 124310466 + Missense_Mutation SNP G G T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 11 124310466 124310466 G T SNP OR8B8 ENST00000328064 human ensembl 69_37n -1 putative missense c.516 p.N172K 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 179 0 0.00 37 44 54.32 - - - PAWR 0 genome.wustl.edu 37 12 79990324 79990324 + Silent SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 12 79990324 79990324 G A SNP PAWR ENST00000328827 human ensembl 69_37n -1 known silent c.798 p.S266 0.775 NULL NULL - no_errors PAWR HGNC ENSG00000177425 67 0 0.00 76 35 31.25 - - - PDE12 0 genome.wustl.edu 37 3 57542498 57542499 + Frame_Shift_Del DEL CA CA - TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 3 57542498 57542499 CA - DEL PDE12 ENST00000311180 human ensembl 69_37n +1 known frame_shift_del c.392_393 p.A131fs 1.000:0.955 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 11 0 0.00 13 9 40.91 - - - PEX5 0 genome.wustl.edu 37 12 7343051 7343051 + Silent SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 12 7343051 7343051 G A SNP PEX5 ENST00000434354 human ensembl 69_37n +1 known silent c.78 p.Q26 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 16 0 0.00 4 9 69.23 - - - PIGV 0 genome.wustl.edu 37 1 27124150 27124150 + Missense_Mutation SNP A A T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 1 27124150 27124150 A T SNP PIGV ENST00000078527 human ensembl 69_37n +1 known missense c.1297 p.T433S 0.007 pfam_GPI_Mannosyltransferase_2-like pfam_GPI_Mannosyltransferase_2-like - no_errors PIGV HGNC ENSG00000060642 55 0 0.00 56 32 36.36 - - - PPP2R5B 0 genome.wustl.edu 37 11 64700359 64700359 + Nonsense_Mutation SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 11 64700359 64700359 G A SNP PPP2R5B ENST00000164133 human ensembl 69_37n +1 known nonsense c.1239 p.W413* 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 25 0 0.00 181 72 28.46 - - - PTEN 0 genome.wustl.edu 37 10 89653840 89653840 + Nonsense_Mutation SNP C C G TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 10 89653840 89653840 C G SNP PTEN ENST00000371953 human ensembl 69_37n +1 known nonsense c.138 p.Y46* 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 110 0 0.00 32 66 67.35 - - - SH3PXD2A 0 genome.wustl.edu 37 10 105362404 105362404 + Missense_Mutation SNP C C T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 10 105362404 105362404 C T SNP SH3PXD2A ENST00000420222 human ensembl 69_37n -1 known missense c.2350 p.G784R 0.035 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SH3PXD2A HGNC ENSG00000107957 59 0 0.00 23 18 43.90 - - - SLC18A2 0 genome.wustl.edu 37 10 119012920 119012920 + Missense_Mutation SNP C C A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 10 119012920 119012920 C A SNP SLC18A2 ENST00000298472 human ensembl 69_37n +1 known missense c.475 p.P159T 0.999 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 44 0 0.00 34 15 30.61 - - - SORBS2 0 genome.wustl.edu 37 4 186544746 186544747 + Frame_Shift_Ins INS - - T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 4 186544746 186544747 - T INS SORBS2 ENST00000284776 human ensembl 69_37n -1 known frame_shift_ins c.1825_1824 p.D608fs 1.000:0.761 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 45 0 0.00 45 36 44.44 - - - TNKS1BP1 0 genome.wustl.edu 37 11 57076427 57076428 + Frame_Shift_Del DEL CT CT - TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 11 57076427 57076428 CT - DEL TNKS1BP1 ENST00000358252 human ensembl 69_37n -1 known frame_shift_del c.3758_3757 p.S1253fs 1.000:0.998 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 290 0 0.00 159 118 42.60 - - - TTN 0 genome.wustl.edu 37 2 179595715 179595715 + Missense_Mutation SNP A A G TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 2 179595715 179595715 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.13945 p.Y4649H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 318 0 0.00 175 168 48.98 - - - TUBGCP5 0 genome.wustl.edu 37 15 22866766 22866766 + Nonsense_Mutation SNP T T A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 15 22866766 22866766 T A SNP TUBGCP5 ENST00000561214 human ensembl 69_37n +1 novel nonsense c.342 p.C114* 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TUBGCP5 HGNC ENSG00000153575 15 0 0.00 22 9 29.03 - - - UCK1 0 genome.wustl.edu 37 9 134400562 134400563 + Frame_Shift_Ins INS - - T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 9 134400562 134400563 - T INS UCK1 ENST00000372211 human ensembl 69_37n -1 known frame_shift_ins c.714_713 p.D239fs 0.058:0.998 NULL pfam_PRK/URK,prints_Uridine_kinase - no_errors UCK1 HGNC ENSG00000130717 9 0 0.00 10 8 44.44 - - - UNC5D 0 genome.wustl.edu 37 8 35544126 35544126 + Missense_Mutation SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 8 35544126 35544126 G A SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.983 p.R328Q 0.973 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 26 0 0.00 32 12 27.27 - - - VCAM1 0 genome.wustl.edu 37 1 101190191 101190191 + Missense_Mutation SNP A A T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 1 101190191 101190191 A T SNP VCAM1 ENST00000294728 human ensembl 69_37n +1 known missense c.673 p.N225Y 0.980 pfscan_Ig-like,prints_VCAM-1 pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 108 0 0.00 91 12 11.65 - - - ZFP57 0 genome.wustl.edu 37 6 29640364 29640364 + Silent SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 6 29640364 29640364 G A SNP ZFP57 ENST00000488757 human ensembl 69_37n -1 known silent c.1524 p.I508 0.025 NULL 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 ZFP57 HGNC ENSG00000204644 83 0 0.00 100 30 23.08 - - - ZNF726 0 genome.wustl.edu 37 19 24116032 24116032 + Missense_Mutation SNP G G A TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6465963-5ea6-44a5-96b0-dff0b0fae4c4 950408ef-e597-4d7c-852d-865fbc66f75d 19 24116032 24116032 G A SNP ZNF726 ENST00000322487 human ensembl 69_37n +1 known missense c.1114 p.E372K 0.007 pfam_Znf_C2H2,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 ZNF726 HGNC ENSG00000213967 182 1 0.55 127 71 35.86 - - -