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 ACCSL 0 genome.wustl.edu 37 11 44081434 44081434 + Missense_Mutation SNP G G C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 11 44081434 44081434 G C SNP ACCSL ENST00000378832 human ensembl 69_37n +1 known missense c.1671 p.L557F 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors ACCSL HGNC ENSG00000205126 119 0 0.00 298 75 20.11 - - - ANAPC1 0 genome.wustl.edu 37 2 112619981 112619981 + Missense_Mutation SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 2 112619981 112619981 G A SNP ANAPC1 ENST00000341068 human ensembl 69_37n -1 known missense c.1247 p.T416M 0.027 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 19 0 0.00 58 12 17.14 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015302 133015302 + RNA SNP T T G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 2 133015302 133015302 T G SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.013 - - - no_errors ANKRD30BL HGNC ENSG00000163046 15 0 0.00 29 21 42.00 - - - ANKRD36C 0 genome.wustl.edu 37 2 96657310 96657311 + Frame_Shift_Ins INS - - TTCA TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 2 96657310 96657311 - TTCA INS ANKRD36C ENST00000456556 human ensembl 69_37n -1 known frame_shift_ins c.147_146 p.K49fs 0.005:0.002 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 34 0 0.00 123 19 13.38 - - - APC 0 genome.wustl.edu 37 5 112164629 112164629 + Missense_Mutation SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 5 112164629 112164629 G A SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.1703 p.S568N 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 126 0 0.00 53 63 54.31 - - - ATG4A 0 genome.wustl.edu 37 X 107396925 107396925 + Nonsense_Mutation SNP G G T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 X 107396925 107396925 G T SNP ATG4A ENST00000372232 human ensembl 69_37n +1 known nonsense c.1180 p.E394* 1.000 NULL pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 149 0 0.00 75 64 46.04 - - - ATXN7L3 0 genome.wustl.edu 37 17 42274624 42274624 + Missense_Mutation SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 17 42274624 42274624 G A SNP ATXN7L3 ENST00000454077 human ensembl 69_37n -1 known missense c.328 p.R110W 0.998 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 42 0 0.00 15 17 53.12 - - - BCL6 0 genome.wustl.edu 37 3 187444543 187444543 + Missense_Mutation SNP C C T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 3 187444543 187444543 C T SNP BCL6 ENST00000232014 human ensembl 69_37n -1 known missense c.1684 p.A562T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 89 0 0.00 53 27 27.27 - - - BRWD1 0 genome.wustl.edu 37 21 40600483 40600484 + Frame_Shift_Del DEL CA CA - TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 21 40600483 40600484 CA - DEL BRWD1 ENST00000333229 human ensembl 69_37n -1 known frame_shift_del c.3151_3150 p.D1051fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 23 0 0.00 18 10 35.71 - - - CASP7 0 genome.wustl.edu 37 10 115486182 115486182 + Missense_Mutation SNP C C T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 10 115486182 115486182 C T SNP CASP7 ENST00000369321 human ensembl 69_37n +1 known missense c.770 p.S257F 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP7 HGNC ENSG00000165806 59 0 0.00 20 16 44.44 - - - CD9 0 genome.wustl.edu 37 12 6342590 6342590 + Missense_Mutation SNP C C A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 12 6342590 6342590 C A SNP CD9 ENST00000009180 human ensembl 69_37n +1 known missense c.286 p.L96I 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 102 0 0.00 100 122 54.95 - - - CELSR3 0 genome.wustl.edu 37 3 48677877 48677877 + Nonsense_Mutation SNP G G C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 3 48677877 48677877 G C SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known nonsense c.9156 p.Y3052* 0.968 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 15 0 0.00 6 6 50.00 - - - CHD6 0 genome.wustl.edu 37 20 40049505 40049505 + Missense_Mutation SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 20 40049505 40049505 G A SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known missense c.5770 p.P1924S 0.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 114 0 0.00 40 67 62.62 - - - COG3 0 genome.wustl.edu 37 13 46070345 46070345 + Silent SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 13 46070345 46070345 G A SNP COG3 ENST00000349995 human ensembl 69_37n +1 known silent c.1386 p.E462 1.000 NULL pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 71 0 0.00 22 33 60.00 - - - CRIPAK 0 genome.wustl.edu 37 4 1388693 1388693 + Missense_Mutation SNP C C G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 4 1388693 1388693 C G SNP CRIPAK ENST00000324803 human ensembl 69_37n +1 known missense c.394 p.H132D 0.000 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 8 0 0.00 53 44 45.36 - - - DHRS1 0 genome.wustl.edu 37 14 24760122 24760122 + Silent SNP C C G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 14 24760122 24760122 C G SNP DHRS1 ENST00000288111 human ensembl 69_37n -1 known silent c.885 p.L295 0.972 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors DHRS1 HGNC ENSG00000157379 61 0 0.00 40 25 38.46 - - - GOLGA8DP 0 genome.wustl.edu 37 15 22706758 22706758 + RNA SNP T T A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 15 22706758 22706758 T A SNP GOLGA8DP ENST00000314246 human ensembl 69_37n -1 known rna NULL NULL 0.928 - - - no_errors GOLGA8DP HGNC ENSG00000185182 29 0 0.00 43 6 12.24 - - - HECTD1 0 genome.wustl.edu 37 14 31582337 31582337 + Nonsense_Mutation SNP A A C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 14 31582337 31582337 A C SNP HECTD1 ENST00000554882 human ensembl 69_37n -1 novel nonsense c.1220 p.L407* 1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HECTD1 HGNC ENSG00000092148 116 0 0.00 81 82 50.31 - - - HSP90AB1 0 genome.wustl.edu 37 6 44218045 44218045 + Silent SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 6 44218045 44218045 G A SNP HSP90AB1 ENST00000353801 human ensembl 69_37n +1 known silent c.666 p.E222 1.000 pfam_Hsp90,superfamily_ATPase-like_ATP-bd,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 56 0 0.00 66 39 37.14 - - - IGKV4-1 0 genome.wustl.edu 37 2 89185360 89185360 + Silent SNP C C T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 2 89185360 89185360 C T SNP IGKV4-1 ENST00000390243 human ensembl 69_37n +1 known silent c.54 p.A18 0.261 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV4-1 HGNC ENSG00000211598 69 0 0.00 58 37 38.54 - - - ITPR2 0 genome.wustl.edu 37 12 26640139 26640139 + Missense_Mutation SNP A A C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 12 26640139 26640139 A C SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.5416 p.F1806V 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 99 0 0.00 153 67 30.45 - - - KLHL12 0 genome.wustl.edu 37 1 202862535 202862535 + Missense_Mutation SNP A A G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 1 202862535 202862535 A G SNP KLHL12 ENST00000435533 human ensembl 69_37n -1 known missense c.1526 p.L509P 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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 KLHL12 HGNC ENSG00000117153 81 0 0.00 81 47 36.72 - - - KRTAP4-11 0 genome.wustl.edu 37 17 39274161 39274161 + Missense_Mutation SNP T T C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 17 39274161 39274161 T C SNP KRTAP4-11 ENST00000391413 human ensembl 69_37n -1 known missense c.407 p.H136R 0.002 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 19 0 0.00 19 29 59.18 - - - KRTAP5-5 0 genome.wustl.edu 37 11 1651229 1651229 + Silent SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 11 1651229 1651229 G A SNP KRTAP5-5 ENST00000399676 human ensembl 69_37n +1 known silent c.159 p.A53 0.325 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 12 0 0.00 45 20 30.77 - - - LRCH4 0 genome.wustl.edu 37 7 100180051 100180051 + Silent SNP G G C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 7 100180051 100180051 G C SNP LRCH4 ENST00000310300 human ensembl 69_37n -1 known silent c.252 p.P84 0.005 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 40 0 0.00 23 35 60.34 - - - LRRC32 0 genome.wustl.edu 37 11 76371884 76371884 + Silent SNP C C G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 11 76371884 76371884 C G SNP LRRC32 ENST00000260061 human ensembl 69_37n -1 known silent c.753 p.R251 0.990 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 42 0 0.00 39 11 22.00 - - - MAGEC2 0 genome.wustl.edu 37 X 141291033 141291033 + Missense_Mutation SNP C C G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 X 141291033 141291033 C G SNP MAGEC2 ENST00000247452 human ensembl 69_37n -1 known missense c.741 p.E247D 0.004 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 69 0 0.00 43 58 57.43 - - - MAMLD1 0 genome.wustl.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 X 149639325 149639327 CAG - DEL MAMLD1 ENST00000432680 human ensembl 69_37n +1 known in_frame_del c.1405_1407 p.Q472in_frame_del 0.006:0.000:0.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 50 0 0.00 30 4 11.76 - - - MTF1 0 genome.wustl.edu 37 1 38323086 38323086 + Missense_Mutation SNP T T A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 1 38323086 38323086 T A SNP MTF1 ENST00000373036 human ensembl 69_37n -1 known missense c.245 p.H82L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 125 0 0.00 153 52 25.37 - - - NOTCH2 0 genome.wustl.edu 37 1 120458147 120458147 + Nonsense_Mutation SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 1 120458147 120458147 G A SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known nonsense c.7198 p.R2400* 1.000 pirsf_Notch,pfam_DUF3454_notch pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 66 0 0.00 41 20 32.79 - - - OR10G4 0 genome.wustl.edu 37 11 123886542 123886542 + Silent SNP C C T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 11 123886542 123886542 C T SNP OR10G4 ENST00000320891 human ensembl 69_37n +1 known silent c.261 p.S87 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 99 1 1.00 51 18 26.09 - - - PCNXL2 0 genome.wustl.edu 37 1 233394715 233394715 + Missense_Mutation SNP C C G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 1 233394715 233394715 C G SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.893 p.R298P 0.001 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 38 0 0.00 71 17 19.32 - - - PDILT 0 genome.wustl.edu 37 16 20387485 20387485 + Nonsense_Mutation SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 16 20387485 20387485 G A SNP PDILT ENST00000302451 human ensembl 69_37n -1 known nonsense c.448 p.R150* 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 68 0 0.00 50 23 31.08 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037842 10037842 + RNA SNP A A G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 Y 10037842 10037842 A G SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 18 0 0.00 34 10 22.73 - - - RNF19A 0 genome.wustl.edu 37 8 101271360 101271360 + Silent SNP G G C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 8 101271360 101271360 G C SNP RNF19A ENST00000341084 human ensembl 69_37n -1 known silent c.1941 p.G647 0.003 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 95 0 0.00 96 40 29.41 - - - SGCD 0 genome.wustl.edu 37 5 156022038 156022038 + Missense_Mutation SNP G G T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 5 156022038 156022038 G T SNP SGCD ENST00000337851 human ensembl 69_37n +1 known missense c.479 p.G160V 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 70 0 0.00 41 30 42.25 - - - SLC9A4 0 genome.wustl.edu 37 2 103141572 103141572 + Missense_Mutation SNP G G C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 2 103141572 103141572 G C SNP SLC9A4 ENST00000295269 human ensembl 69_37n +1 known missense c.1908 p.R636S 0.906 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 85 0 0.00 64 94 59.49 - - - SOGA2 0 genome.wustl.edu 37 18 8784556 8784556 + Silent SNP G G C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 18 8784556 8784556 G C SNP SOGA2 ENST00000359865 human ensembl 69_37n +1 known silent c.1446 p.A482 0.241 NULL pfam_DUF3166 - no_errors SOGA2 HGNC ENSG00000168502 13 0 0.00 11 10 45.45 - - - SYDE1 0 genome.wustl.edu 37 19 15223187 15223187 + Missense_Mutation SNP C C T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 19 15223187 15223187 C T SNP SYDE1 ENST00000342784 human ensembl 69_37n +1 known missense c.1609 p.R537C 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 24 0 0.00 35 17 32.69 - - - SYDE1 0 genome.wustl.edu 37 19 15223341 15223341 + Missense_Mutation SNP A A G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 19 15223341 15223341 A G SNP SYDE1 ENST00000342784 human ensembl 69_37n +1 known missense c.1763 p.H588R 0.998 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 12 0 0.00 19 21 52.50 - - - TMEM150A 0 genome.wustl.edu 37 2 85827041 85827041 + Silent SNP C C G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 2 85827041 85827041 C G SNP TMEM150A ENST00000334462 human ensembl 69_37n -1 known silent c.369 p.A123 0.001 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150A HGNC ENSG00000168890 56 0 0.00 50 43 45.74 - - - TOM1 0 genome.wustl.edu 37 22 35734720 35734720 + Missense_Mutation SNP C C T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 22 35734720 35734720 C T SNP TOM1 ENST00000411850 human ensembl 69_37n +1 known missense c.1163 p.A388V 1.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 31 0 0.00 12 18 60.00 - - - TUBBP5 0 genome.wustl.edu 37 9 141069885 141069885 + RNA SNP A A C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 9 141069885 141069885 A C SNP TUBBP5 ENST00000290377 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 12 0 0.00 18 6 25.00 - - - UFL1 0 genome.wustl.edu 37 6 96971168 96971168 + Splice_Site SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 6 96971168 96971168 G A SNP UFL1 ENST00000369278 human ensembl 69_37n +1 known splice_site c.223+1 e2+1 1.000 - - - no_errors UFL1 HGNC ENSG00000014123 58 0 0.00 76 37 32.74 - - - ZNF12 0 genome.wustl.edu 37 7 6731888 6731888 + Missense_Mutation SNP C C T TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 7 6731888 6731888 C T SNP ZNF12 ENST00000405858 human ensembl 69_37n -1 known missense c.685 p.D229N 0.000 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 ZNF12 HGNC ENSG00000164631 52 0 0.00 61 28 31.46 - - - ZNFX1 0 genome.wustl.edu 37 20 47886966 47886966 + Silent SNP G G A TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e55f338f-97e2-4394-ae23-c92606069485 45c5228f-0317-4c73-a84a-257abfbb5ae8 20 47886966 47886966 G A SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known silent c.1383 p.F461 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 73 0 0.00 21 24 53.33 - - -