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 ABCC5 0 genome.wustl.edu 37 3 183685546 183685546 + Silent SNP C C T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 3 183685546 183685546 C T SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known silent c.1770 p.L590 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 716 0 0.00 249 239 48.78 - - - ALOXE3 0 genome.wustl.edu 37 17 8012603 8012603 + Frame_Shift_Del DEL A A - TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 17 8012603 8012603 A - DEL ALOXE3 ENST00000318227 human ensembl 69_37n -1 known frame_shift_del c.1847 p.F616fs 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 65 0 0.00 11 2 15.38 - - - AMDHD2 0 genome.wustl.edu 37 16 2578618 2578619 + Frame_Shift_Ins INS - - C TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 16 2578618 2578619 - C INS AMDHD2 ENST00000413459 human ensembl 69_37n +1 known frame_shift_ins c.1028_1029 p.R346fs 0.000:0.000 pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 30 0 0.00 4 2 33.33 - - - ATP1A4 0 genome.wustl.edu 37 1 160144375 160144375 + Missense_Mutation SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 1 160144375 160144375 G A SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known missense c.2149 p.V717I 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 233 0 0.00 102 19 15.70 - - - BIN1 0 genome.wustl.edu 37 2 127827627 127827627 + Frame_Shift_Del DEL C C - TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 2 127827627 127827627 C - DEL BIN1 ENST00000316724 human ensembl 69_37n -1 known frame_shift_del c.355 p.V119fs 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 60 0 0.00 3 2 40.00 - - - C11orf1 0 genome.wustl.edu 37 11 111753281 111753281 + Missense_Mutation SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 11 111753281 111753281 G A SNP C11orf1 ENST00000260276 human ensembl 69_37n +1 known missense c.235 p.D79N 0.960 pfam_UPF0686 pfam_UPF0686 - no_errors C11orf1 HGNC ENSG00000137720 155 0 0.00 49 14 22.22 - - - C2CD2 0 genome.wustl.edu 37 21 43321826 43321826 + Missense_Mutation SNP C C G TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 21 43321826 43321826 C G SNP C2CD2 ENST00000380486 human ensembl 69_37n -1 known missense c.1465 p.A489P 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC ENSG00000157617 237 0 0.00 54 7 11.48 - - - CCDC170 0 genome.wustl.edu 37 6 151859360 151859360 + Missense_Mutation SNP G G C TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 6 151859360 151859360 G C SNP CCDC170 ENST00000367290 human ensembl 69_37n +1 known missense c.367 p.E123Q 0.566 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 608 0 0.00 1213 827 40.50 - - - FAM116A 0 genome.wustl.edu 37 3 57616502 57616502 + Missense_Mutation SNP A A G TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 3 57616502 57616502 A G SNP FAM116A ENST00000311128 human ensembl 69_37n -1 known missense c.1457 p.L486P 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom - no_errors FAM116A HGNC ENSG00000174839 253 0 0.00 151 47 23.74 - - - FAM154A 0 genome.wustl.edu 37 9 18928791 18928791 + Missense_Mutation SNP C C A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 9 18928791 18928791 C A SNP FAM154A ENST00000380534 human ensembl 69_37n -1 known missense c.684 p.R228S 0.877 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 312 0 0.00 137 42 23.46 - - - FBN1 0 genome.wustl.edu 37 15 48719825 48719825 + Missense_Mutation SNP C C T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 15 48719825 48719825 C T SNP FBN1 ENST00000559133 human ensembl 69_37n -1 known missense c.2512 p.G838R 0.999 NULL pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FBN1 HGNC ENSG00000166147 222 0 0.00 87 35 28.69 - - - FILIP1L 0 genome.wustl.edu 37 3 99569408 99569408 + Missense_Mutation SNP T T A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 3 99569408 99569408 T A SNP FILIP1L ENST00000354552 human ensembl 69_37n -1 known missense c.1112 p.E371V 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 1608 0 0.00 776 225 22.46 - - - GPC5 0 genome.wustl.edu 37 13 92408591 92408591 + Silent SNP A A C TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 13 92408591 92408591 A C SNP GPC5 ENST00000377067 human ensembl 69_37n +1 known silent c.1197 p.G399 0.900 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 800 0 0.00 573 133 18.84 - - - HEPH 0 genome.wustl.edu 37 X 65392232 65392232 + Missense_Mutation SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 X 65392232 65392232 G A SNP HEPH ENST00000519389 human ensembl 69_37n +1 known missense c.365 p.R122Q 0.983 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 362 0 0.00 138 106 43.44 - - - HIST1H2AA 0 genome.wustl.edu 37 6 25726475 25726475 + Missense_Mutation SNP A A G TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 6 25726475 25726475 A G SNP HIST1H2AA ENST00000297012 human ensembl 69_37n -1 known missense c.281 p.L94P 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AA HGNC ENSG00000164508 304 0 0.00 198 57 22.35 - - - IFT88 0 genome.wustl.edu 37 13 21172876 21172876 + Silent SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 13 21172876 21172876 G A SNP IFT88 ENST00000319980 human ensembl 69_37n +1 known silent c.708 p.K236 1.000 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 276 0 0.00 129 28 17.83 - - - IGKV3-7 0 genome.wustl.edu 37 2 89278193 89278193 + Missense_Mutation SNP T T A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 2 89278193 89278193 T A SNP IGKV3-7 ENST00000390247 human ensembl 69_37n -1 known missense c.142 p.S48C 0.005 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3-7 HGNC ENSG00000243063 485 0 0.00 139 166 54.43 - - - KBTBD8 0 genome.wustl.edu 37 3 67053690 67053690 + Missense_Mutation SNP C C T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 3 67053690 67053690 C T SNP KBTBD8 ENST00000417314 human ensembl 69_37n +1 known missense c.299 p.S100L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 600 0 0.00 143 40 21.86 - - - KCNH2 0 genome.wustl.edu 37 7 150648151 150648151 + Missense_Mutation SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 7 150648151 150648151 G A SNP KCNH2 ENST00000262186 human ensembl 69_37n -1 known missense c.2003 p.S668L 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 56 0 0.00 10 6 37.50 - - - KIAA1984-AS1 0 genome.wustl.edu 37 9 139699271 139699271 + RNA DEL A A - TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 9 139699271 139699271 A - DEL KIAA1984-AS1 ENST00000414656 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors KIAA1984-AS1 HGNC ENSG00000228544 56 0 0.00 7 2 22.22 - - - KIF21B 0 genome.wustl.edu 37 1 200973473 200973474 + Frame_Shift_Ins INS - - C TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 1 200973473 200973474 - C INS KIF21B ENST00000422435 human ensembl 69_37n -1 known frame_shift_ins c.1011_1010 p.N338fs 0.760:1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 16 0 0.00 7 2 22.22 - - - MAGI3 0 genome.wustl.edu 37 1 114191882 114191882 + Missense_Mutation SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 1 114191882 114191882 G A SNP MAGI3 ENST00000369611 human ensembl 69_37n +1 known missense c.2179 p.V727I 1.000 superfamily_PDZ,pfscan_PDZ 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 407 0 0.00 133 49 26.92 - - - MTUS2 0 genome.wustl.edu 37 13 29600553 29600553 + Missense_Mutation SNP C C A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 13 29600553 29600553 C A SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known missense c.1748 p.P583H 0.141 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 416 0 0.00 121 75 38.27 - - - MYO9B 0 genome.wustl.edu 37 19 17313052 17313052 + Frame_Shift_Del DEL C C - TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 19 17313052 17313052 C - DEL MYO9B ENST00000397274 human ensembl 69_37n +1 known frame_shift_del c.4776 p.Q1593fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 49 0 0.00 2 4 57.14 - - - NEK9 0 genome.wustl.edu 37 14 75584015 75584015 + Silent SNP T T C TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 14 75584015 75584015 T C SNP NEK9 ENST00000238616 human ensembl 69_37n -1 known silent c.645 p.P215 0.991 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_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 321 0 0.00 168 31 15.58 - - - NHLRC2 0 genome.wustl.edu 37 10 115661613 115661613 + Missense_Mutation SNP A A T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 10 115661613 115661613 A T SNP NHLRC2 ENST00000369301 human ensembl 69_37n +1 known missense c.1328 p.D443V 1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 636 0 0.00 231 81 25.96 - - - PCDH15 0 genome.wustl.edu 37 10 55782835 55782835 + Silent SNP G G T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 10 55782835 55782835 G T SNP PCDH15 ENST00000320301 human ensembl 69_37n -1 known silent c.2343 p.V781 0.084 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 563 0 0.00 183 52 21.94 - - - PCDHAC2 0 genome.wustl.edu 37 5 140346876 140346876 + Silent SNP C C T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 5 140346876 140346876 C T SNP PCDHAC2 ENST00000289269 human ensembl 69_37n +1 known silent c.525 p.P175 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 41 0 0.00 12 4 25.00 - - - RYR1 0 genome.wustl.edu 37 19 38976819 38976819 + Missense_Mutation SNP C C G TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 19 38976819 38976819 C G SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.5524 p.L1842V 1.000 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 391 0 0.00 139 37 20.90 - - - SAGE1 0 genome.wustl.edu 37 X 134991157 134991157 + Missense_Mutation SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 X 134991157 134991157 G A SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known missense c.1576 p.D526N 0.007 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 343 1 0.29 140 27 16.17 - - - SCN10A 0 genome.wustl.edu 37 3 38739525 38739525 + Missense_Mutation SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 3 38739525 38739525 G A SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.5186 p.T1729M 0.996 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 570 1 0.17 316 86 21.34 - - - SCN2A 0 genome.wustl.edu 37 2 166152440 166152440 + Missense_Mutation SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 2 166152440 166152440 G A SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.107 p.R36K 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 262 0 0.00 112 41 26.45 - - - SEPT10 0 genome.wustl.edu 37 2 110301779 110301779 + Missense_Mutation SNP A A C TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 2 110301779 110301779 A C SNP SEPT10 ENST00000356688 human ensembl 69_37n -1 putative missense c.1555 p.F519V 0.348 NULL pfam_Cell_div_GTP-bd - no_errors SEPT10 HGNC ENSG00000186522 88 0 0.00 36 12 25.00 - - - SLC25A39 0 genome.wustl.edu 37 17 42397996 42397996 + Frame_Shift_Del DEL T T - TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 17 42397996 42397996 T - DEL SLC25A39 ENST00000377095 human ensembl 69_37n -1 known frame_shift_del c.795 p.T267fs 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A39 HGNC ENSG00000013306 76 0 0.00 16 2 11.11 - - - TNFRSF21 0 genome.wustl.edu 37 6 47202423 47202423 + Missense_Mutation SNP C C A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 6 47202423 47202423 C A SNP TNFRSF21 ENST00000296861 human ensembl 69_37n -1 known missense c.1721 p.G574V 1.000 NULL pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_21,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF21 HGNC ENSG00000146072 35 0 0.00 19 9 32.14 - - - TP53 0 genome.wustl.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 17 7578442 7578442 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.488 p.Y163C 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 165 0 0.00 26 39 60.00 - - - TRMT10A 0 genome.wustl.edu 37 4 100479258 100479258 + Missense_Mutation SNP C C T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 4 100479258 100479258 C T SNP TRMT10A ENST00000273962 human ensembl 69_37n -1 known missense c.296 p.S99N 0.946 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 136 0 0.00 60 17 22.08 - - - UNC13D 0 genome.wustl.edu 37 17 73836376 73836377 + Frame_Shift_Ins INS - - G TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 17 73836376 73836377 - G INS UNC13D ENST00000412096 human ensembl 69_37n -1 known frame_shift_ins c.788_787 p.L263fs 1.000:0.974 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC ENSG00000092929 21 0 0.00 4 2 33.33 - - - USPL1 0 genome.wustl.edu 37 13 31195310 31195310 + Silent SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 13 31195310 31195310 G A SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known silent c.33 p.L11 1.000 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 360 0 0.00 77 36 31.86 - - - WDR45L 0 genome.wustl.edu 37 17 80585138 80585140 + In_Frame_Del DEL TCT TCT - TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 17 80585138 80585140 TCT - DEL WDR45L ENST00000392325 human ensembl 69_37n -1 known in_frame_del c.274_272 p.K91in_frame_del 1.000:1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45L HGNC ENSG00000141580 506 0 0.00 91 77 45.03 - - - ZFPL1 0 genome.wustl.edu 37 11 64855582 64855582 + Missense_Mutation SNP C C T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4525400d-0a2c-4cc7-9c71-9ad6d9faf93f 7e92cfa5-68b6-4dd5-a911-b3a0f44a1635 11 64855582 64855582 C T SNP ZFPL1 ENST00000294258 human ensembl 69_37n +1 known missense c.929 p.S310F 1.000 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 97 0 0.00 17 6 26.09 - - -