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 ACLY 0 genome.wustl.edu 37 17 40042364 40042364 + Splice_Site SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 17 40042364 40042364 C T SNP ACLY ENST00000352035 human ensembl 69_37n -1 known splice_site c.2072+1 e17+1 1.000 - - - no_errors ACLY HGNC ENSG00000131473 82 0 0.00 50 33 39.76 - - - BTNL8 0 genome.wustl.edu 37 5 180377233 180377233 + Missense_Mutation SNP G G A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 5 180377233 180377233 G A SNP BTNL8 ENST00000340184 human ensembl 69_37n +1 known missense c.1192 p.V398I 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL8 HGNC ENSG00000113303 162 0 0.00 35 101 74.26 - - - C7orf23 0 genome.wustl.edu 37 7 86825961 86825961 + Silent SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 7 86825961 86825961 C T SNP C7orf23 ENST00000257637 human ensembl 69_37n -1 known silent c.348 p.V116 1.000 pfam_DUF2678 pfam_DUF2678 - no_errors C7orf23 HGNC ENSG00000135185 146 0 0.00 82 56 40.58 - - - CABIN1 0 genome.wustl.edu 37 22 24463095 24463095 + Frame_Shift_Del DEL C C - TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 22 24463095 24463095 C - DEL CABIN1 ENST00000263119 human ensembl 69_37n +1 known frame_shift_del c.2195 p.I733fs 0.996 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 101 0 0.00 22 26 54.17 - - - CHD1 0 genome.wustl.edu 37 5 98236686 98236686 + Silent SNP T T G TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 5 98236686 98236686 T G SNP CHD1 ENST00000284049 human ensembl 69_37n -1 known silent c.688 p.R230 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 376 0 0.00 200 78 27.96 - - - COPA 0 genome.wustl.edu 37 1 160261650 160261650 + Missense_Mutation SNP G G C TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 1 160261650 160261650 G C SNP COPA ENST00000368069 human ensembl 69_37n -1 known missense c.3244 p.L1082V 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPA HGNC ENSG00000122218 215 0 0.00 96 40 29.20 - - - CUL7 0 genome.wustl.edu 37 6 43014812 43014812 + Frame_Shift_Del DEL G G - TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 6 43014812 43014812 G - DEL CUL7 ENST00000535468 human ensembl 69_37n -1 known frame_shift_del c.2455 p.L819fs 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 62 0 0.00 43 13 23.21 - - - ECE1 0 genome.wustl.edu 37 1 21546502 21546502 + Missense_Mutation SNP G G C TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 1 21546502 21546502 G C SNP ECE1 ENST00000374893 human ensembl 69_37n -1 known missense c.2259 p.F753L 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 182 0 0.00 34 53 60.92 - - - FER1L6 0 genome.wustl.edu 37 8 125047696 125047696 + Splice_Site SNP G G T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 8 125047696 125047696 G T SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known splice_site c.2464+1 e18+1 1.000 - - - no_errors FER1L6 HGNC ENSG00000214814 83 0 0.00 92 34 26.98 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685786 23685786 + Silent SNP G G A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 15 23685786 23685786 G A SNP GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative silent c.1836 p.D612 0.069 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 28 0 0.00 27 7 20.59 - - - GPR179 0 genome.wustl.edu 37 17 36491508 36491508 + Missense_Mutation SNP T T C TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 17 36491508 36491508 T C SNP GPR179 ENST00000342292 human ensembl 69_37n -1 known missense c.1372 p.I458V 0.834 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 104 0 0.00 55 21 27.63 - - - HMGB2 0 genome.wustl.edu 37 4 174254765 174254765 + Missense_Mutation SNP T T A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 4 174254765 174254765 T A SNP HMGB2 ENST00000296503 human ensembl 69_37n -1 known missense c.36 p.K12N 0.941 superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB2 HGNC ENSG00000164104 129 0 0.00 87 30 25.64 - - - HNRNPH1 0 genome.wustl.edu 37 5 179044055 179044055 + Missense_Mutation SNP A A T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 5 179044055 179044055 A T SNP HNRNPH1 ENST00000356731 human ensembl 69_37n -1 known missense c.1114 p.Y372N 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 268 0 0.00 91 63 40.91 - - - KIAA1755 0 genome.wustl.edu 37 20 36869418 36869418 + Missense_Mutation SNP G G A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 20 36869418 36869418 G A SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known missense c.1115 p.S372F 0.037 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 41 0 0.00 30 12 28.57 - - - KISS1R 0 genome.wustl.edu 37 19 918593 918593 + Silent SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 19 918593 918593 C T SNP KISS1R ENST00000234371 human ensembl 69_37n +1 known silent c.294 p.F98 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_KiSS_1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors KISS1R HGNC ENSG00000116014 38 0 0.00 8 5 38.46 - - - LAMA5 0 genome.wustl.edu 37 20 60886146 60886147 + Frame_Shift_Del DEL TG TG - TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 20 60886146 60886147 TG - DEL LAMA5 ENST00000252999 human ensembl 69_37n -1 known frame_shift_del c.10093_10092 p.S3367fs 0.033:0.035 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 26 0 0.00 26 7 20.59 - - - LOXL3 0 genome.wustl.edu 37 2 74762803 74762803 + Missense_Mutation SNP C C A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 2 74762803 74762803 C A SNP LOXL3 ENST00000264094 human ensembl 69_37n -1 known missense c.1328 p.G443V 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 45 0 0.00 24 19 44.19 - - - LRRC4B 0 genome.wustl.edu 37 19 51021653 51021653 + Silent SNP C C A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 19 51021653 51021653 C A SNP LRRC4B ENST00000389201 human ensembl 69_37n -1 known silent c.1317 p.T439 0.999 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 40 0 0.00 23 8 25.81 - - - MAGEB1 0 genome.wustl.edu 37 X 30268880 30268880 + Silent SNP T T C TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 X 30268880 30268880 T C SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known silent c.270 p.N90 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 72 0 0.00 42 15 26.32 - - - MAP3K1 0 genome.wustl.edu 37 5 56160578 56160579 + Frame_Shift_Del DEL CA CA - TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 5 56160578 56160579 CA - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.852_853 p.P286fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 110 0 0.00 66 30 31.25 - - - MCCC1 0 genome.wustl.edu 37 3 182817227 182817228 + Frame_Shift_Ins INS - - T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 3 182817227 182817228 - T INS MCCC1 ENST00000265594 human ensembl 69_37n -1 known frame_shift_ins c.2_1 p.M1fs 0.283:0.272 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 12 0 0.00 5 5 50.00 - - - MTOR 0 genome.wustl.edu 37 1 11188177 11188177 + Missense_Mutation SNP T T A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 1 11188177 11188177 T A SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.5917 p.I1973F 1.000 pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 225 0 0.00 43 66 60.55 - - - NEK5 0 genome.wustl.edu 37 13 52684534 52684534 + Missense_Mutation SNP T T C TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 13 52684534 52684534 T C SNP NEK5 ENST00000355568 human ensembl 69_37n -1 known missense c.409 p.S137G 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 417 0 0.00 72 107 59.78 - - - PCDHA3 0 genome.wustl.edu 37 5 140182767 140182767 + Missense_Mutation SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 5 140182767 140182767 C T SNP PCDHA3 ENST00000522353 human ensembl 69_37n +1 known missense c.1985 p.T662M 0.995 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 PCDHA3 HGNC ENSG00000255408 50 0 0.00 20 23 53.49 - - - RBM19 0 genome.wustl.edu 37 12 114386694 114386694 + Missense_Mutation SNP C C A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 12 114386694 114386694 C A SNP RBM19 ENST00000261741 human ensembl 69_37n -1 known missense c.1220 p.R407L 0.701 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 161 0 0.00 164 48 22.64 - - - SERPINA5 0 genome.wustl.edu 37 14 95053768 95053768 + Missense_Mutation SNP C C A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 14 95053768 95053768 C A SNP SERPINA5 ENST00000329597 human ensembl 69_37n +1 known missense c.69 p.H23Q 0.000 superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA5 HGNC ENSG00000188488 61 0 0.00 26 15 36.59 - - - SLC35F3 0 genome.wustl.edu 37 1 234367371 234367371 + Silent SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 1 234367371 234367371 C T SNP SLC35F3 ENST00000366618 human ensembl 69_37n +1 known silent c.492 p.D164 0.993 NULL pfam_DMT,pfam_DUF250,pfam_DUF914_euk - no_errors SLC35F3 HGNC ENSG00000183780 70 0 0.00 53 19 26.39 - - - SOAT1 0 genome.wustl.edu 37 1 179310278 179310278 + Missense_Mutation SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 1 179310278 179310278 C T SNP SOAT1 ENST00000367619 human ensembl 69_37n +1 known missense c.613 p.H205Y 0.001 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 318 0 0.00 163 90 35.57 - - - STAG1 0 genome.wustl.edu 37 3 136078054 136078054 + Missense_Mutation SNP G G A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 3 136078054 136078054 G A SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.2872 p.R958C 0.998 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 167 0 0.00 35 65 65.00 - - - TACSTD2 0 genome.wustl.edu 37 1 59042071 59042071 + Missense_Mutation SNP A A C TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 1 59042071 59042071 A C SNP TACSTD2 ENST00000371225 human ensembl 69_37n -1 known missense c.758 p.V253G 0.999 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors TACSTD2 HGNC ENSG00000184292 37 0 0.00 25 5 16.67 - - - TCOF1 0 genome.wustl.edu 37 5 149773041 149773041 + Missense_Mutation SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 5 149773041 149773041 C T SNP TCOF1 ENST00000451292 human ensembl 69_37n +1 known missense c.3818 p.A1273V 0.000 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 156 0 0.00 83 50 37.59 - - - TFAM 0 genome.wustl.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 10 60148570 60148570 A - DEL TFAM ENST00000487519 human ensembl 69_37n +1 known frame_shift_del c.432 p.E148fs 0.006 superfamily_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TFAM HGNC ENSG00000108064 86 0 0.00 61 7 10.29 - - - UBE4B 0 genome.wustl.edu 37 1 10205077 10205077 + Missense_Mutation SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 1 10205077 10205077 C T SNP UBE4B ENST00000343090 human ensembl 69_37n +1 known missense c.2443 p.R815C 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 116 0 0.00 19 37 66.07 - - - USP32P1 0 genome.wustl.edu 37 17 16691307 16691307 + RNA SNP T T A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 17 16691307 16691307 T A SNP USP32P1 ENST00000393005 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors USP32P1 HGNC ENSG00000188933 55 0 0.00 34 12 26.09 - - - WASH3P 0 genome.wustl.edu 37 15 102516165 102516165 + RNA SNP C C G TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 15 102516165 102516165 C G SNP WASH3P ENST00000557932 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 24 0 0.00 8 2 20.00 - - - ZNF492 0 genome.wustl.edu 37 19 22847203 22847203 + Silent SNP G G A TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39c1df91-b670-4f6b-b5ff-dbb6b66d30af 6fb74fc6-17aa-4a5c-ba62-17a1609eef50 19 22847203 22847203 G A SNP ZNF492 ENST00000456783 human ensembl 69_37n +1 known silent c.732 p.K244 0.957 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 24 0 0.00 20 4 16.67 - - -