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 ABCB4 0 genome.wustl.edu 37 7 87037370 87037370 + Missense_Mutation SNP G G T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 7 87037370 87037370 G T SNP ABCB4 ENST00000265723 human ensembl 69_37n -1 known missense c.3262 p.P1088T 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 9 0 0.00 20 7 25.93 - - - ADCY9 0 genome.wustl.edu 37 16 4057514 4057514 + Missense_Mutation SNP C C G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 16 4057514 4057514 C G SNP ADCY9 ENST00000294016 human ensembl 69_37n -1 known missense c.1739 p.R580P 0.063 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 32 0 0.00 23 10 30.30 - - - AGRN 0 genome.wustl.edu 37 1 984735 984735 + Missense_Mutation SNP A A T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 1 984735 984735 A T SNP AGRN ENST00000379370 human ensembl 69_37n +1 known missense c.4418 p.E1473V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 20 0 0.00 21 9 29.03 - - - ALKBH3 0 genome.wustl.edu 37 11 43940636 43940636 + Missense_Mutation SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 11 43940636 43940636 G A SNP ALKBH3 ENST00000302708 human ensembl 69_37n +1 known missense c.718 p.D240N 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 43 0 0.00 46 15 24.59 - - - ANPEP 0 genome.wustl.edu 37 15 90342682 90342682 + Missense_Mutation SNP T T G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 15 90342682 90342682 T G SNP ANPEP ENST00000300060 human ensembl 69_37n -1 known missense c.1928 p.Q643P 0.988 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 48 0 0.00 52 26 33.33 - - - APMAP 0 genome.wustl.edu 37 20 24954310 24954310 + Missense_Mutation SNP G G C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 20 24954310 24954310 G C SNP APMAP ENST00000217456 human ensembl 69_37n -1 known missense c.392 p.T131S 0.942 NULL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 47 0 0.00 41 18 30.51 - - - ATP9A 0 genome.wustl.edu 37 20 50238710 50238710 + Missense_Mutation SNP A A T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 20 50238710 50238710 A T SNP ATP9A ENST00000338821 human ensembl 69_37n -1 known missense c.2018 p.V673D 0.998 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 30 0 0.00 30 21 41.18 - - - BRCA1 0 genome.wustl.edu 37 17 41223090 41223090 + Frame_Shift_Del DEL G G - TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 17 41223090 41223090 G - DEL BRCA1 ENST00000471181 human ensembl 69_37n -1 known frame_shift_del c.4904 p.P1635fs 0.000 pirsf_BRCA1,superfamily_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 50 0 0.00 49 23 31.94 - - - C12orf70 0 genome.wustl.edu 37 12 27654981 27654981 + Missense_Mutation SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 12 27654981 27654981 G A SNP C12orf70 ENST00000416383 human ensembl 69_37n +1 known missense c.959 p.R320H 0.000 NULL NULL - no_errors C12orf70 HGNC ENSG00000165935 52 0 0.00 68 25 26.88 - - - C15orf53 0 genome.wustl.edu 37 15 38990578 38990578 + Silent SNP C C G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 15 38990578 38990578 C G SNP C15orf53 ENST00000318792 human ensembl 69_37n +1 known silent c.372 p.P124 0.000 NULL NULL - no_errors C15orf53 HGNC ENSG00000175779 20 0 0.00 11 8 42.11 - - - CCDC74A 0 genome.wustl.edu 37 2 132288293 132288293 + Missense_Mutation SNP G G C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 2 132288293 132288293 G C SNP CCDC74A ENST00000295171 human ensembl 69_37n +1 known missense c.437 p.G146A 0.006 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 31 0 0.00 32 6 15.79 - - - CEP350 0 genome.wustl.edu 37 1 180062936 180062936 + Missense_Mutation SNP A A G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 1 180062936 180062936 A G SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.7696 p.I2566V 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 26 0 0.00 20 7 25.93 - - - CNKSR1 0 genome.wustl.edu 37 1 26508367 26508367 + Missense_Mutation SNP A A C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 1 26508367 26508367 A C SNP CNKSR1 ENST00000374253 human ensembl 69_37n +1 known missense c.412 p.N138H 1.000 pfam_CRIC_domain_Chordata pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 39 0 0.00 41 8 16.33 - - - DOCK8 0 genome.wustl.edu 37 9 390476 390476 + Silent SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 9 390476 390476 C T SNP DOCK8 ENST00000453981 human ensembl 69_37n +1 known silent c.2880 p.F960 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 99 0 0.00 134 23 14.65 - - - DSPP 0 genome.wustl.edu 37 4 88537123 88537123 + Silent SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 4 88537123 88537123 C T SNP DSPP ENST00000282478 human ensembl 69_37n +1 known silent c.3309 p.S1103 0.989 NULL NULL - no_errors DSPP HGNC ENSG00000152591 12 0 0.00 7 6 46.15 - - - ESPNP 0 genome.wustl.edu 37 1 17029281 17029281 + RNA SNP G G C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 1 17029281 17029281 G C SNP ESPNP ENST00000492551 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000116219 10 0 0.00 7 5 41.67 - - - FAM166A 0 genome.wustl.edu 37 9 140138642 140138642 + Missense_Mutation SNP G G C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 9 140138642 140138642 G C SNP FAM166A ENST00000344774 human ensembl 69_37n -1 known missense c.846 p.F282L 1.000 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 37 0 0.00 46 7 12.96 - - - FAM171B 0 genome.wustl.edu 37 2 187626600 187626600 + Nonsense_Mutation SNP G G T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 2 187626600 187626600 G T SNP FAM171B ENST00000304698 human ensembl 69_37n +1 known nonsense c.1531 p.E511* 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 36 0 0.00 33 19 36.54 - - - FAM75D5 0 genome.wustl.edu 37 9 84531130 84531130 + RNA SNP C C G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 9 84531130 84531130 C G SNP FAM75D5 ENST00000527857 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM75D5 HGNC ENSG00000240632 46 0 0.00 36 8 18.18 - - - FAM83A 0 genome.wustl.edu 37 8 124221764 124221764 + Splice_Site SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 8 124221764 124221764 G A SNP FAM83A ENST00000522648 human ensembl 69_37n +1 known splice_site c.875-1 e4-1 0.000 - - - no_errors FAM83A HGNC ENSG00000147689 36 0 0.00 45 24 34.78 - - - FMO1 0 genome.wustl.edu 37 1 171250104 171250104 + Silent SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 1 171250104 171250104 C T SNP FMO1 ENST00000354841 human ensembl 69_37n +1 known silent c.807 p.Y269 0.996 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 42 0 0.00 46 6 11.54 - - - FREM3 0 genome.wustl.edu 37 4 144545312 144545312 + Missense_Mutation SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 4 144545312 144545312 C T SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative missense c.5602 p.V1868I 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 58 0 0.00 71 18 20.22 - - - FTSJD1 0 genome.wustl.edu 37 16 71318994 71318994 + Missense_Mutation SNP A A C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 16 71318994 71318994 A C SNP FTSJD1 ENST00000338099 human ensembl 69_37n -1 known missense c.830 p.F277C 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJD1 HGNC ENSG00000180917 20 0 0.00 37 13 26.00 - - - GCC2 0 genome.wustl.edu 37 2 109086705 109086705 + Nonsense_Mutation SNP C C A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 2 109086705 109086705 C A SNP GCC2 ENST00000309863 human ensembl 69_37n +1 known nonsense c.920 p.S307* 0.671 superfamily_tRNA-bd_arm pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 27 0 0.00 26 8 23.53 - - - GSTP1 0 genome.wustl.edu 37 11 67352214 67352214 + Missense_Mutation SNP C C G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 11 67352214 67352214 C G SNP GSTP1 ENST00000398606 human ensembl 69_37n +1 known missense c.203 p.T68S 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi - no_errors GSTP1 HGNC ENSG00000084207 15 0 0.00 14 6 30.00 - - - GYG2 0 genome.wustl.edu 37 X 2761348 2761348 + Silent SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab X 2761348 2761348 G A SNP GYG2 ENST00000381163 human ensembl 69_37n +1 known silent c.195 p.T65 0.908 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 34 0 0.00 44 6 11.76 - - - HERC2P2 0 genome.wustl.edu 37 15 23299924 23299924 + RNA SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 15 23299924 23299924 C T SNP HERC2P2 ENST00000560464 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 16 0 0.00 11 5 31.25 - - - HERC2P2 0 genome.wustl.edu 37 15 23299928 23299928 + RNA SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 15 23299928 23299928 C T SNP HERC2P2 ENST00000560464 human ensembl 69_37n -1 known rna NULL NULL 0.986 - - - no_errors HERC2P2 HGNC ENSG00000140181 14 0 0.00 10 5 33.33 - - - HLA-F 0 genome.wustl.edu 37 6 29692856 29692856 + Missense_Mutation SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 6 29692856 29692856 C T SNP HLA-F ENST00000259951 human ensembl 69_37n +1 known missense c.659 p.A220V 0.857 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC ENSG00000204642 43 0 0.00 46 22 31.88 - - - IGLC3 0 genome.wustl.edu 37 22 23248691 23248691 + Silent SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 22 23248691 23248691 C T SNP IGLC3 ENST00000390325 human ensembl 69_37n +1 known silent c.180 p.N60 0.993 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGLC3 HGNC ENSG00000211679 36 0 0.00 34 6 15.00 - - - IMPG1 0 genome.wustl.edu 37 6 76728458 76728458 + Missense_Mutation SNP G G T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 6 76728458 76728458 G T SNP IMPG1 ENST00000369950 human ensembl 69_37n -1 known missense c.784 p.L262I 0.872 pfam_SEA,smart_SEA,pfscan_SEA pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC ENSG00000112706 45 0 0.00 51 8 13.56 - - - KIF2A 0 genome.wustl.edu 37 5 61642964 61642964 + Missense_Mutation SNP A A G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 5 61642964 61642964 A G SNP KIF2A ENST00000407818 human ensembl 69_37n +1 known missense c.72 p.I24M 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 57 0 0.00 28 14 33.33 - - - KIF5C 0 genome.wustl.edu 37 2 149868144 149868144 + Missense_Mutation SNP G G T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 2 149868144 149868144 G T SNP KIF5C ENST00000435030 human ensembl 69_37n +1 known missense c.2828 p.R943L 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 27 0 0.00 18 5 21.74 - - - KIF6 0 genome.wustl.edu 37 6 39507890 39507890 + Missense_Mutation SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 6 39507890 39507890 G A SNP KIF6 ENST00000287152 human ensembl 69_37n -1 known missense c.1534 p.R512C 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 80 0 0.00 68 24 26.09 - - - KIFC1 0 genome.wustl.edu 37 6 33371565 33371565 + Silent SNP T T C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 6 33371565 33371565 T C SNP KIFC1 ENST00000428849 human ensembl 69_37n +1 known silent c.415 p.L139 0.830 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 19 0 0.00 15 8 34.78 - - - LILRA1 0 genome.wustl.edu 37 19 55106797 55106797 + Nonsense_Mutation SNP C C A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 19 55106797 55106797 C A SNP LILRA1 ENST00000251372 human ensembl 69_37n +1 known nonsense c.591 p.C197* 0.137 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA1 HGNC ENSG00000104974 83 0 0.00 79 32 28.83 - - - LRRC8C 0 genome.wustl.edu 37 1 90180366 90180366 + Missense_Mutation SNP C C A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 1 90180366 90180366 C A SNP LRRC8C ENST00000370454 human ensembl 69_37n +1 known missense c.2237 p.P746Q 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 41 0 0.00 40 15 27.27 - - - MYO16 0 genome.wustl.edu 37 13 109496701 109496701 + Missense_Mutation SNP G G C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 13 109496701 109496701 G C SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known missense c.1042 p.V348L 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 39 0 0.00 44 10 18.52 - - - NCAPD3 0 genome.wustl.edu 37 11 134090556 134090556 + Missense_Mutation SNP T T A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 11 134090556 134090556 T A SNP NCAPD3 ENST00000534548 human ensembl 69_37n -1 known missense c.129 p.E43D 1.000 pirsf_Condns_HCP-6 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 - no_errors NCAPD3 HGNC ENSG00000151503 43 0 0.00 103 12 10.34 - - - OR10K1 0 genome.wustl.edu 37 1 158435435 158435435 + Missense_Mutation SNP T T G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 1 158435435 158435435 T G SNP OR10K1 ENST00000289451 human ensembl 69_37n +1 known missense c.84 p.F28L 0.008 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 36 0 0.00 51 14 21.54 - - - OTOP2 0 genome.wustl.edu 37 17 72920980 72920980 + Missense_Mutation SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 17 72920980 72920980 G A SNP OTOP2 ENST00000331427 human ensembl 69_37n +1 known missense c.253 p.V85M 0.657 NULL pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 9 0 0.00 6 4 40.00 - - - PANX3 0 genome.wustl.edu 37 11 124489712 124489712 + Missense_Mutation SNP G G C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 11 124489712 124489712 G C SNP PANX3 ENST00000284288 human ensembl 69_37n +1 known missense c.1060 p.D354H 1.000 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 41 0 0.00 34 16 32.00 - - - PLXNB3 0 genome.wustl.edu 37 X 153040401 153040401 + Missense_Mutation SNP A A G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab X 153040401 153040401 A G SNP PLXNB3 ENST00000538966 human ensembl 69_37n +1 known missense c.4067 p.Y1356C 0.998 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 8 0 0.00 6 4 40.00 - - - PMPCA 0 genome.wustl.edu 37 9 139313014 139313014 + Missense_Mutation SNP A A C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 9 139313014 139313014 A C SNP PMPCA ENST00000371717 human ensembl 69_37n +1 known missense c.998 p.D333A 0.999 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC ENSG00000165688 23 0 0.00 25 6 19.35 - - - POTEJ 0 genome.wustl.edu 37 2 131414573 131414573 + Missense_Mutation SNP A A C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 2 131414573 131414573 A C SNP POTEJ ENST00000409602 human ensembl 69_37n +1 novel missense c.2240 p.K747T 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEJ HGNC ENSG00000222038 22 0 0.00 24 11 31.43 - - - SMC1B 0 genome.wustl.edu 37 22 45802482 45802482 + Silent SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 22 45802482 45802482 G A SNP SMC1B ENST00000357450 human ensembl 69_37n -1 known silent c.474 p.I158 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 57 0 0.00 99 18 15.25 - - - SPTAN1 0 genome.wustl.edu 37 9 131367318 131367318 + Missense_Mutation SNP C C G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 9 131367318 131367318 C G SNP SPTAN1 ENST00000358161 human ensembl 69_37n +1 known missense c.3725 p.A1242G 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 22 0 0.00 22 6 21.43 - - - STARD10 0 genome.wustl.edu 37 11 72468901 72468901 + Missense_Mutation SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 11 72468901 72468901 C T SNP STARD10 ENST00000334805 human ensembl 69_37n -1 known missense c.488 p.R163Q 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD10 HGNC ENSG00000214530 36 0 0.00 47 13 21.31 - - - STK10 0 genome.wustl.edu 37 5 171533635 171533635 + Silent SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 5 171533635 171533635 C T SNP STK10 ENST00000176763 human ensembl 69_37n -1 known silent c.777 p.T259 0.364 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_PKK,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 - no_errors STK10 HGNC ENSG00000072786 38 0 0.00 22 14 36.84 - - - TCF20 0 genome.wustl.edu 37 22 42564676 42564676 + Missense_Mutation SNP G G T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 22 42564676 42564676 G T SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known missense c.5866 p.Q1956K 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 18 0 0.00 23 10 30.30 - - - TET2 0 genome.wustl.edu 37 4 106155404 106155406 + In_Frame_Del DEL CTC CTC - TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 4 106155404 106155406 CTC - DEL TET2 ENST00000380013 human ensembl 69_37n +1 known in_frame_del c.305_307 p.SL102in_frame_delF 1.000:1.000:1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 20 0 0.00 18 5 21.74 - - - TJP1 0 genome.wustl.edu 37 15 30011076 30011076 + Missense_Mutation SNP C C G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 15 30011076 30011076 C G SNP TJP1 ENST00000346128 human ensembl 69_37n -1 known missense c.3270 p.Q1090H 0.990 NULL pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 87 0 0.00 61 33 35.11 - - - TMEM155 0 genome.wustl.edu 37 4 122682813 122682813 + Missense_Mutation SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 4 122682813 122682813 G A SNP TMEM155 ENST00000337677 human ensembl 69_37n -1 known missense c.92 p.A31V 0.062 NULL NULL - no_errors TMEM155 HGNC ENSG00000164112 41 0 0.00 38 9 19.15 - - - TMPRSS11D 0 genome.wustl.edu 37 4 68725377 68725377 + Missense_Mutation SNP T T C TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 4 68725377 68725377 T C SNP TMPRSS11D ENST00000283916 human ensembl 69_37n -1 known missense c.28 p.T10A 0.000 pirsf_Pept_S1A_HAT/DESC1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6 - no_errors TMPRSS11D HGNC ENSG00000153802 24 0 0.00 39 8 17.02 - - - TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 60 0 0.00 35 21 37.50 - - - TTN 0 genome.wustl.edu 37 2 179477304 179477304 + Splice_Site SNP C C G TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 2 179477304 179477304 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known splice_site c.42245-1 e214-1 1.000 - - - no_errors TTN HGNC ENSG00000155657 80 0 0.00 82 27 24.55 - - - VPS13D 0 genome.wustl.edu 37 1 12374322 12374322 + Missense_Mutation SNP C C A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 1 12374322 12374322 C A SNP VPS13D ENST00000011700 human ensembl 69_37n +1 novel missense c.3554 p.S1185Y 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VPS13D HGNC ENSG00000048707 51 0 0.00 57 10 14.71 - - - VSTM2A 0 genome.wustl.edu 37 7 54610496 54610497 + Frame_Shift_Del DEL TC TC - TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 7 54610496 54610497 TC - DEL VSTM2A ENST00000402026 human ensembl 69_37n +1 known frame_shift_del c.70_71 p.Q25fs 1.000:1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2A HGNC ENSG00000170419 139 0 0.00 154 33 17.28 - - - ZNF263 0 genome.wustl.edu 37 16 3336103 3336103 + Silent SNP C C T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab 16 3336103 3336103 C T SNP ZNF263 ENST00000219069 human ensembl 69_37n +1 known silent c.723 p.L241 0.828 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 41 0 0.00 55 12 17.91 - - - ZNF75D 0 genome.wustl.edu 37 X 134426226 134426226 + Silent SNP G G T TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab X 134426226 134426226 G T SNP ZNF75D ENST00000370766 human ensembl 69_37n -1 known silent c.585 p.T195 0.029 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 65 0 0.00 103 16 13.45 - - - ZNF81 0 genome.wustl.edu 37 X 47774912 47774912 + Missense_Mutation SNP C C A TCGA-D8-A27M-01A-11D-A16D-09 TCGA-D8-A27M-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9257f9-ca3f-4c14-a680-6632175dd526 d57d98db-8901-497c-b97e-1fc813a6d1ab X 47774912 47774912 C A SNP ZNF81 ENST00000338637 human ensembl 69_37n +1 known missense c.867 p.F289L 0.004 pfscan_Znf_C2H2 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 ZNF81 HGNC ENSG00000197779 21 0 0.00 23 7 23.33 - - -