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 AKAP1 0 genome.wustl.edu 37 17 55183615 55183615 + Missense_Mutation SNP G G C TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 17 55183615 55183615 G C SNP AKAP1 ENST00000337714 human ensembl 69_37n +1 known missense c.790 p.A264P 0.001 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 129 0 0.00 358 103 22.34 - - - AKR1B1 0 genome.wustl.edu 37 7 134136358 134136358 + Nonsense_Mutation SNP C C A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 7 134136358 134136358 C A SNP AKR1B1 ENST00000285930 human ensembl 69_37n -1 known nonsense c.214 p.E72* 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC ENSG00000085662 50 0 0.00 123 37 23.12 - - - ALDH1L2 0 genome.wustl.edu 37 12 105443688 105443688 + Nonsense_Mutation SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 12 105443688 105443688 G A SNP ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known nonsense c.1684 p.Q562* 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 141 0 0.00 78 15 16.13 - - - ANKRD27 0 genome.wustl.edu 37 19 33134217 33134217 + Silent SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 19 33134217 33134217 G A SNP ANKRD27 ENST00000306065 human ensembl 69_37n -1 known silent c.681 p.Y227 0.594 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 174 0 0.00 122 33 21.29 - - - ASH1L 0 genome.wustl.edu 37 1 155348180 155348182 + Frame_Shift_Del DEL TCT TCT - TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 1 155348180 155348182 TCT - DEL ASH1L ENST00000368346 human ensembl 69_37n -1 known frame_shift_del c.6239 p.N2080fs 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 131 0 0.00 176 29 14.15 - - - CCDC73 0 genome.wustl.edu 37 11 32636346 32636346 + Silent SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 11 32636346 32636346 C T SNP CCDC73 ENST00000335185 human ensembl 69_37n -1 known silent c.1518 p.T506 0.004 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 188 0 0.00 114 75 39.68 - - - CCDC82 0 genome.wustl.edu 37 11 96117839 96117839 + Missense_Mutation SNP C C A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 11 96117839 96117839 C A SNP CCDC82 ENST00000278520 human ensembl 69_37n -1 known missense c.73 p.D25Y 1.000 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 256 0 0.00 125 58 31.69 - - - CCNT1 0 genome.wustl.edu 37 12 49089558 49089558 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 12 49089558 49089558 C T SNP CCNT1 ENST00000261900 human ensembl 69_37n -1 known missense c.761 p.R254H 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 271 1 0.37 127 25 16.45 - - - CDH12 0 genome.wustl.edu 37 5 21802509 21802509 + Missense_Mutation SNP C C G TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 5 21802509 21802509 C G SNP CDH12 ENST00000382254 human ensembl 69_37n -1 known missense c.1023 p.K341N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH12 HGNC ENSG00000154162 110 0 0.00 57 26 31.33 - - - CHD3 0 genome.wustl.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 17 7801857 7801859 AAG - DEL CHD3 ENST00000330494 human ensembl 69_37n +1 known in_frame_del c.2095_2097 p.K702in_frame_del 1.000:1.000:1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 107 1 0.92 72 20 21.74 - - - CPSF1 0 genome.wustl.edu 37 8 145620395 145620395 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 8 145620395 145620395 C T SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known missense c.3190 p.E1064K 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 37 0 0.00 52 80 60.61 - - - CSGALNACT1 0 genome.wustl.edu 37 8 19277864 19277864 + Silent SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 8 19277864 19277864 C T SNP CSGALNACT1 ENST00000311540 human ensembl 69_37n -1 known silent c.1119 p.L373 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 94 0 0.00 70 25 26.32 - - - DNAH9 0 genome.wustl.edu 37 17 11572453 11572453 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 17 11572453 11572453 C T SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.2804 p.P935L 0.999 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 154 0 0.00 90 34 27.42 - - - EHD2 0 genome.wustl.edu 37 19 48239666 48239666 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 19 48239666 48239666 C T SNP EHD2 ENST00000263277 human ensembl 69_37n +1 known missense c.956 p.P319L 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 85 0 0.00 130 39 22.94 - - - ERV3-1 0 genome.wustl.edu 37 7 64453178 64453178 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 7 64453178 64453178 C T SNP ERV3-1 ENST00000394323 human ensembl 69_37n -1 known missense c.227 p.G76D 0.828 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 115 0 0.00 143 50 25.77 - - - EYA1 0 genome.wustl.edu 37 8 72234498 72234498 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 8 72234498 72234498 C T SNP EYA1 ENST00000340726 human ensembl 69_37n -1 known missense c.208 p.G70R 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 199 0 0.00 260 39 13.00 - - - GATA3 0 genome.wustl.edu 37 10 8111513 8111514 + Frame_Shift_Ins INS - - G TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 10 8111513 8111514 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1002_1003 p.D335fs 0.859:1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 81 0 0.00 162 92 36.22 - - - L3MBTL1 0 genome.wustl.edu 37 20 42164575 42164575 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 20 42164575 42164575 C T SNP L3MBTL1 ENST00000418998 human ensembl 69_37n +1 known missense c.1858 p.R620W 1.000 pfam_Znf_C2HC pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 57 0 0.00 89 25 21.93 - - - LLGL1 0 genome.wustl.edu 37 17 18145941 18145941 + Missense_Mutation SNP G G C TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 17 18145941 18145941 G C SNP LLGL1 ENST00000316843 human ensembl 69_37n +1 known missense c.3115 p.G1039R 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat - no_errors LLGL1 HGNC ENSG00000131899 10 0 0.00 22 19 46.34 - - - MAGI3 0 genome.wustl.edu 37 1 114184725 114184725 + Nonsense_Mutation SNP C C G TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 1 114184725 114184725 C G SNP MAGI3 ENST00000369611 human ensembl 69_37n +1 known nonsense c.1553 p.S518* 0.963 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 165 0 0.00 165 52 23.96 - - - MORN1 0 genome.wustl.edu 37 1 2268205 2268205 + Missense_Mutation SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 1 2268205 2268205 G A SNP MORN1 ENST00000378531 human ensembl 69_37n -1 known missense c.1121 p.P374L 0.347 NULL pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 9 0 0.00 9 13 56.52 - - - MSN 0 genome.wustl.edu 37 X 64955188 64955188 + Missense_Mutation SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 X 64955188 64955188 G A SNP MSN ENST00000360270 human ensembl 69_37n +1 known missense c.855 p.M285I 1.000 pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 93 0 0.00 159 72 31.17 - - - NCAM1 0 genome.wustl.edu 37 11 113130919 113130919 + Missense_Mutation SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 11 113130919 113130919 G A SNP NCAM1 ENST00000316851 human ensembl 69_37n +1 known missense c.1975 p.V659I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NCAM1 HGNC ENSG00000149294 121 0 0.00 115 60 34.29 - - - OSBPL2 0 genome.wustl.edu 37 20 60859166 60859166 + Missense_Mutation SNP T T G TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 20 60859166 60859166 T G SNP OSBPL2 ENST00000313733 human ensembl 69_37n +1 known missense c.937 p.S313A 0.013 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 116 0 0.00 161 42 20.69 - - - PDE4B 0 genome.wustl.edu 37 1 66838015 66838015 + Missense_Mutation SNP T T C TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 1 66838015 66838015 T C SNP PDE4B ENST00000329654 human ensembl 69_37n +1 known missense c.1865 p.I622T 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 31 0 0.00 55 18 24.66 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 123 0 0.00 107 85 44.27 - - - POM121 0 genome.wustl.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 7 72413723 72413724 - CTC INS POM121 ENST00000434423 human ensembl 69_37n +1 known in_frame_ins c.3191_3192 p.1065in_frame_insS 0.980:0.870 NULL NULL - no_errors POM121 HGNC ENSG00000196313 8 0 0.00 24 10 29.41 - - - RANBP3 0 genome.wustl.edu 37 19 5925701 5925701 + Missense_Mutation SNP G G C TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 19 5925701 5925701 G C SNP RANBP3 ENST00000340578 human ensembl 69_37n -1 known missense c.861 p.H287Q 0.988 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 39 0 0.00 99 28 22.05 - - - RPS6KA5 0 genome.wustl.edu 37 14 91341643 91341643 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 14 91341643 91341643 C T SNP RPS6KA5 ENST00000261991 human ensembl 69_37n -1 known missense c.1898 p.S633N 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA5 HGNC ENSG00000100784 126 0 0.00 57 22 27.85 - - - RYR2 0 genome.wustl.edu 37 1 237608817 237608817 + Silent SNP T T C TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 1 237608817 237608817 T C SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.1281 p.F427 0.994 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 409 0 0.00 219 95 29.78 - - - SCN8A 0 genome.wustl.edu 37 12 52082854 52082854 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 12 52082854 52082854 C T SNP SCN8A ENST00000550891 human ensembl 69_37n +1 novel missense c.680 p.A227V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,prints_Na_channel_a8su - no_errors SCN8A HGNC ENSG00000196876 53 0 0.00 50 18 26.47 - - - SCYL3 0 genome.wustl.edu 37 1 169823868 169823868 + Missense_Mutation SNP T T C TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 1 169823868 169823868 T C SNP SCYL3 ENST00000367770 human ensembl 69_37n -1 known missense c.1712 p.D571G 0.990 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,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC ENSG00000000457 76 0 0.00 33 16 32.00 - - - SH3KBP1 0 genome.wustl.edu 37 X 19854375 19854375 + Silent SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 X 19854375 19854375 G A SNP SH3KBP1 ENST00000397821 human ensembl 69_37n -1 known silent c.30 p.Y10 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 145 0 0.00 169 72 29.75 - - - SMPD2 0 genome.wustl.edu 37 6 109763931 109763931 + Missense_Mutation SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 6 109763931 109763931 G A SNP SMPD2 ENST00000458487 human ensembl 69_37n +1 putative missense c.158 p.R53H 0.029 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SMPD2 HGNC ENSG00000135587 64 0 0.00 91 16 14.95 - - - TCF4 0 genome.wustl.edu 37 18 52896202 52896202 + Silent SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 18 52896202 52896202 G A SNP TCF4 ENST00000398339 human ensembl 69_37n -1 known silent c.2061 p.N687 0.998 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF4 HGNC ENSG00000196628 56 0 0.00 197 38 16.17 - - - TRIM64B 0 genome.wustl.edu 37 11 89604106 89604106 + Missense_Mutation SNP C C A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 11 89604106 89604106 C A SNP TRIM64B ENST00000329862 human ensembl 69_37n -1 known missense c.1033 p.D345Y 0.884 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM64B HGNC ENSG00000189253 268 0 0.00 127 18 12.41 - - - YIF1A 0 genome.wustl.edu 37 11 66055109 66055109 + Silent SNP G G T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 11 66055109 66055109 G T SNP YIF1A ENST00000376901 human ensembl 69_37n -1 known silent c.387 p.P129 0.696 pfam_Hrf1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 42 0 0.00 42 9 17.65 - - - ZBTB40 0 genome.wustl.edu 37 1 22839582 22839582 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 444a1ef9-819a-41dc-baef-22057225efcd e7b0ba1b-04c8-48f1-ba7d-844ae3f70916 1 22839582 22839582 C T SNP ZBTB40 ENST00000375647 human ensembl 69_37n +1 known missense c.2627 p.A876V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 42 0 0.00 93 28 23.14 - - -