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 ACTL6B 0 genome.wustl.edu 37 7 100244424 100244424 + Missense_Mutation SNP C C G TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 7 100244424 100244424 C G SNP ACTL6B ENST00000160382 human ensembl 69_37n -1 known missense c.967 p.G323R 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ENSG00000077080 9 0 0.00 18 9 33.33 - - - ADAMTS7 0 genome.wustl.edu 37 15 79058631 79058631 + Missense_Mutation SNP G G T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 15 79058631 79058631 G T SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known missense c.3622 p.P1208T 0.001 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 12 0 0.00 15 15 50.00 - - - AMBRA1 0 genome.wustl.edu 37 11 46419045 46419045 + Silent SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 11 46419045 46419045 G A SNP AMBRA1 ENST00000458649 human ensembl 69_37n -1 known silent c.3852 p.S1284 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 59 0 0.00 77 22 22.22 - - - ATXN7 0 genome.wustl.edu 37 3 63981414 63981414 + Missense_Mutation SNP G G C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 3 63981414 63981414 G C SNP ATXN7 ENST00000398590 human ensembl 69_37n +1 known missense c.1916 p.C639S 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 95 0 0.00 149 87 36.86 - - - BRD3 0 genome.wustl.edu 37 9 136918532 136918532 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 9 136918532 136918532 G A SNP BRD3 ENST00000303407 human ensembl 69_37n -1 known missense c.68 p.P23L 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 29 0 0.00 14 31 68.89 - - - C3orf55 0 genome.wustl.edu 37 3 157289743 157289743 + Splice_Site SNP G G T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 3 157289743 157289743 G T SNP C3orf55 ENST00000449199 human ensembl 69_37n +1 known splice_site c.214-1 e3-1 0.008 - - - no_errors C3orf55 HGNC ENSG00000174899 82 0 0.00 144 107 42.46 - - - CCDC23 0 genome.wustl.edu 37 1 43282112 43282112 + Missense_Mutation SNP T T C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 1 43282112 43282112 T C SNP CCDC23 ENST00000372521 human ensembl 69_37n -1 known missense c.104 p.Q35R 1.000 NULL NULL - no_errors CCDC23 HGNC ENSG00000177868 128 0 0.00 203 133 39.58 - - - CTCF 0 genome.wustl.edu 37 16 67644736 67644736 + Missense_Mutation SNP A A G TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 16 67644736 67644736 A G SNP CTCF ENST00000264010 human ensembl 69_37n +1 known missense c.1 p.M1V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 9 0 0.00 10 10 50.00 - - - DSC1 0 genome.wustl.edu 37 18 28714069 28714069 + Missense_Mutation SNP C C T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 18 28714069 28714069 C T SNP DSC1 ENST00000257198 human ensembl 69_37n -1 known missense c.1901 p.R634Q 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmocollin,prints_Cadherin,prints_Desmo_cadherin - no_errors DSC1 HGNC ENSG00000134765 30 0 0.00 59 41 41.00 - - - EXOSC9 0 genome.wustl.edu 37 4 122735146 122735146 + Missense_Mutation SNP T T C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 4 122735146 122735146 T C SNP EXOSC9 ENST00000379663 human ensembl 69_37n +1 known missense c.1100 p.I367T 0.980 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 39 0 0.00 65 42 39.25 - - - FAM214A 0 genome.wustl.edu 37 15 52879367 52879367 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 15 52879367 52879367 G A SNP FAM214A ENST00000261844 human ensembl 69_37n -1 known missense c.2858 p.P953L 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 45 0 0.00 98 51 34.23 - - - FOXG1 0 genome.wustl.edu 37 14 29237628 29237628 + Silent SNP C C T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 14 29237628 29237628 C T SNP FOXG1 ENST00000313071 human ensembl 69_37n +1 known silent c.1143 p.A381 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 15 0 0.00 11 13 54.17 - - - GAP43 0 genome.wustl.edu 37 3 115439676 115439676 + Missense_Mutation SNP C C T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 3 115439676 115439676 C T SNP GAP43 ENST00000305124 human ensembl 69_37n +1 known missense c.664 p.R222W 1.000 pfam_Neuromodulin_C pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Neuromodulin,pfscan_IQ_motif_EF-hand-BS - no_errors GAP43 HGNC ENSG00000172020 65 0 0.00 95 65 40.62 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 43 0 0 63 38 36.54 - - - HCFC2 0 genome.wustl.edu 37 12 104495851 104495851 + Missense_Mutation SNP G G C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 12 104495851 104495851 G C SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known missense c.1984 p.G662R 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 79 0 0.00 123 75 37.88 - - - KAT2B 0 genome.wustl.edu 37 3 20167590 20167590 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 3 20167590 20167590 G A SNP KAT2B ENST00000263754 human ensembl 69_37n +1 known missense c.1607 p.R536Q 1.000 pirsf_Hist_acetylase_PCAF,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2B HGNC ENSG00000114166 22 0 0.00 43 40 48.19 - - - KDM4C 0 genome.wustl.edu 37 9 6805599 6805599 + Missense_Mutation SNP G G C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 9 6805599 6805599 G C SNP KDM4C ENST00000381309 human ensembl 69_37n +1 known missense c.145 p.V49L 1.000 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 11 0 0.00 20 22 52.38 - - - LIMS1 0 genome.wustl.edu 37 2 109300418 109300418 + Missense_Mutation SNP G G T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 2 109300418 109300418 G T SNP LIMS1 ENST00000542845 human ensembl 69_37n +1 known missense c.1127 p.R376I 1.000 pirsf_PINCH pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC ENSG00000169756 43 0 0.00 86 24 21.82 - - - MAP3K1 0 genome.wustl.edu 37 5 56160679 56160680 + Frame_Shift_Ins INS - - A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 5 56160679 56160680 - A INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.953_954 p.L319fs 0.965:0.937 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 50 0 0.00 69 120 63.49 - - - MARS 0 genome.wustl.edu 37 12 57894289 57894289 + Missense_Mutation SNP A A T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 12 57894289 57894289 A T SNP MARS ENST00000262027 human ensembl 69_37n +1 known missense c.1277 p.N426I 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 59 0 0.00 62 54 46.55 - - - MLL3 0 genome.wustl.edu 37 7 151841851 151841852 + Frame_Shift_Ins INS - - CC TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 7 151841851 151841852 - CC INS MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_ins c.14461_14460 p.K4820fs 0.999:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 99 0 0.00 192 121 38.66 - - - MTUS2 0 genome.wustl.edu 37 13 29608146 29608146 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 13 29608146 29608146 G A SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known missense c.2360 p.R787H 0.992 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 73 0 0.00 97 84 46.41 - - - NCKAP1L 0 genome.wustl.edu 37 12 54902260 54902260 + Missense_Mutation SNP C C T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 12 54902260 54902260 C T SNP NCKAP1L ENST00000293373 human ensembl 69_37n +1 known missense c.451 p.R151W 0.997 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 61 0 0.00 164 37 18.41 - - - NEUROD2 0 genome.wustl.edu 37 17 37761947 37761948 + Frame_Shift_Ins INS - - G TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 17 37761947 37761948 - G INS NEUROD2 ENST00000302584 human ensembl 69_37n -1 known frame_shift_ins c.906_905 p.L303fs 1.000:1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd - no_errors NEUROD2 HGNC ENSG00000171532 27 0 0.00 27 12 30.77 - - - NFE2L2 0 genome.wustl.edu 37 2 178098009 178098009 + Missense_Mutation SNP G G C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 2 178098009 178098009 G C SNP NFE2L2 ENST00000397062 human ensembl 69_37n -1 known missense c.371 p.A124G 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,superfamily_Sepin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 92 0 0.00 72 54 42.52 - - - NHSL1 0 genome.wustl.edu 37 6 138752045 138752045 + Frame_Shift_Del DEL C C - TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 6 138752045 138752045 C - DEL NHSL1 ENST00000427025 human ensembl 69_37n -1 known frame_shift_del c.3449 p.S1150fs 0.029 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 23 0 0.00 27 17 38.64 - - - P4HTM 0 genome.wustl.edu 37 3 49044240 49044240 + Missense_Mutation SNP T T C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 3 49044240 49044240 T C SNP P4HTM ENST00000343546 human ensembl 69_37n +1 known missense c.1592 p.F531S 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 8 0 0.00 16 10 38.46 - - - PCDH19 0 genome.wustl.edu 37 X 99662740 99662740 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae X 99662740 99662740 G A SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.856 p.R286C 0.115 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 PCDH19 HGNC ENSG00000165194 77 0 0.00 60 59 49.58 - - - PLD3 0 genome.wustl.edu 37 19 40883954 40883954 + Silent SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 19 40883954 40883954 G A SNP PLD3 ENST00000356508 human ensembl 69_37n +1 known silent c.1347 p.T449 0.495 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 15 0 0.00 14 16 53.33 - - - PLEKHM1P 0 genome.wustl.edu 37 17 62796759 62796759 + RNA SNP A A C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 17 62796759 62796759 A C SNP PLEKHM1P ENST00000578036 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 10 0 0.00 15 10 40.00 - - - PSMA3 0 genome.wustl.edu 37 14 58737668 58737668 + Missense_Mutation SNP T T A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 14 58737668 58737668 T A SNP PSMA3 ENST00000216455 human ensembl 69_37n +1 known missense c.675 p.H225Q 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 15 0 0.00 49 26 34.67 - - - RGPD4 0 genome.wustl.edu 37 2 108479165 108479165 + Missense_Mutation SNP G G C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 2 108479165 108479165 G C SNP RGPD4 ENST00000354986 human ensembl 69_37n +1 known missense c.2233 p.E745Q 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 9 0 0.00 3 7 70.00 - - - SAP18 0 genome.wustl.edu 37 13 21714920 21714920 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 13 21714920 21714920 G A SNP SAP18 ENST00000450573 human ensembl 69_37n +1 putative missense c.8 p.G3D 0.000 NULL pfam_SAP18 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SAP18 HGNC ENSG00000150459 8 0 0.00 11 6 35.29 - - - SEC23IP 0 genome.wustl.edu 37 10 121674317 121674317 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 10 121674317 121674317 G A SNP SEC23IP ENST00000369075 human ensembl 69_37n +1 known missense c.1388 p.S463N 1.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 237 0 0.00 368 217 36.90 - - - SLC26A6 0 genome.wustl.edu 37 3 48668568 48668568 + Missense_Mutation SNP A A C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 3 48668568 48668568 A C SNP SLC26A6 ENST00000395550 human ensembl 69_37n -1 known missense c.992 p.V331G 0.007 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 36 0 0.00 45 6 11.76 - - - TAB3 0 genome.wustl.edu 37 X 30872398 30872398 + Missense_Mutation SNP C C T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae X 30872398 30872398 C T SNP TAB3 ENST00000288422 human ensembl 69_37n -1 known missense c.1384 p.A462T 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 75 0 0.00 107 38 26.21 - - - TBX3 0 genome.wustl.edu 37 12 115118782 115118782 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 12 115118782 115118782 G A SNP TBX3 ENST00000257566 human ensembl 69_37n -1 known missense c.559 p.H187Y 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 37 0 0.00 61 37 37.76 - - - TRIM49C 0 genome.wustl.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 11 89774252 89774252 G A SNP TRIM49C ENST00000448984 human ensembl 69_37n +1 known missense c.893 p.S298N 0.001 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49C HGNC ENSG00000204449 13 0 0.00 23 8 25.81 - - - UGT1A4 0 genome.wustl.edu 37 2 234680995 234680995 + Silent SNP T T C TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 2 234680995 234680995 T C SNP UGT1A4 ENST00000373409 human ensembl 69_37n +1 known silent c.1395 p.F465 0.994 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 25 0 0.00 47 47 49.47 - - - USP24 0 genome.wustl.edu 37 1 55589159 55589159 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 1 55589159 55589159 G A SNP USP24 ENST00000294383 human ensembl 69_37n -1 known missense c.4237 p.L1413F 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 35 0 0.00 66 39 36.79 - - - VSIG8 0 genome.wustl.edu 37 1 159828685 159828685 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1951aa38-481b-464c-9a78-0819312a0a93 4a4bd36e-5543-429f-aabe-a9811e0df7ae 1 159828685 159828685 G A SNP VSIG8 ENST00000368100 human ensembl 69_37n -1 known missense c.67 p.R23W 1.000 pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG8 HGNC ENSG00000243284 18 0 0.00 34 23 40.35 - - -