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 ADAMTSL2 0 genome.wustl.edu 37 9 136405814 136405814 + Silent SNP A A G TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 9 136405814 136405814 A G SNP ADAMTSL2 ENST00000393061 human ensembl 69_37n +1 known silent c.834 p.T278 0.017 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 20 0 0.00 11 12 52.17 - - - ANO10 0 genome.wustl.edu 37 3 43596874 43596874 + Missense_Mutation SNP C C A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 3 43596874 43596874 C A SNP ANO10 ENST00000292246 human ensembl 69_37n -1 known missense c.1564 p.A522S 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 45 0 0.00 22 18 45.00 - - - ANO3 0 genome.wustl.edu 37 11 26620415 26620415 + Missense_Mutation SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 11 26620415 26620415 G A SNP ANO3 ENST00000256737 human ensembl 69_37n +1 known missense c.1541 p.R514H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 25 0 0.00 33 6 15.38 - - - APOB 0 genome.wustl.edu 37 2 21234906 21234906 + Missense_Mutation SNP A A G TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 2 21234906 21234906 A G SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.4834 p.F1612L 0.247 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 17 0 0.00 39 12 23.53 - - - APOL6 0 genome.wustl.edu 37 22 36055202 36055202 + Silent SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 22 36055202 36055202 G A SNP APOL6 ENST00000409652 human ensembl 69_37n +1 known silent c.591 p.L197 0.000 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 31 0 0.00 23 6 20.69 - - - BNIPL 0 genome.wustl.edu 37 1 151018589 151018589 + Missense_Mutation SNP C C A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 1 151018589 151018589 C A SNP BNIPL ENST00000368931 human ensembl 69_37n +1 known missense c.985 p.L329M 0.998 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIPL HGNC ENSG00000163141 60 0 0.00 64 15 18.99 - - - C7 0 genome.wustl.edu 37 5 40959618 40959618 + Silent SNP A A G TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 5 40959618 40959618 A G SNP C7 ENST00000313164 human ensembl 69_37n +1 known silent c.1557 p.R519 0.229 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 52 0 0.00 26 31 54.39 - - - CASC5 0 genome.wustl.edu 37 15 40917759 40917761 + In_Frame_Del DEL AAG AAG - TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 15 40917759 40917761 AAG - DEL CASC5 ENST00000346991 human ensembl 69_37n +1 known in_frame_del c.5375_5377 p.E1795in_frame_del 0.980:0.985:0.981 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 33 0 0.00 16 2 11.11 - - - CDKL5 0 genome.wustl.edu 37 X 18638042 18638042 + Nonsense_Mutation SNP G G T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc X 18638042 18638042 G T SNP CDKL5 ENST00000379989 human ensembl 69_37n +1 known nonsense c.2332 p.G778* 1.000 NULL 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 CDKL5 HGNC ENSG00000008086 32 0 0.00 18 7 28.00 - - - CNNM3 0 genome.wustl.edu 37 2 97498311 97498311 + Silent SNP C C T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 2 97498311 97498311 C T SNP CNNM3 ENST00000305510 human ensembl 69_37n +1 known silent c.2082 p.G694 0.001 NULL pfam_DUF21,superfamily_RNA_pol_subH/Rpb5_C,superfamily_cNMP-bd-like - no_errors CNNM3 HGNC ENSG00000168763 50 0 0.00 31 11 26.19 - - - COL22A1 0 genome.wustl.edu 37 8 139856380 139856380 + Missense_Mutation SNP C C T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 8 139856380 139856380 C T SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known missense c.680 p.R227H 0.042 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 69 0 0.00 102 21 17.07 - - - CTTNBP2 0 genome.wustl.edu 37 7 117432213 117432213 + Missense_Mutation SNP C C A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 7 117432213 117432213 C A SNP CTTNBP2 ENST00000160373 human ensembl 69_37n -1 known missense c.1037 p.C346F 0.026 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 35 0 0.00 20 8 28.57 - - - DDB1 0 genome.wustl.edu 37 11 61094351 61094351 + Silent SNP C C T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 11 61094351 61094351 C T SNP DDB1 ENST00000301764 human ensembl 69_37n -1 known silent c.564 p.R188 0.999 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 27 0 0.00 26 11 29.73 - - - DERA 0 genome.wustl.edu 37 12 16115830 16115830 + Nonsense_Mutation SNP G G T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 12 16115830 16115830 G T SNP DERA ENST00000428559 human ensembl 69_37n +1 known nonsense c.457 p.E153* 1.000 pfam_DeoC/AroFGH_arch,pirsf_DeoC,tigrfam_DeoC pfam_DeoC/AroFGH_arch,pirsf_DeoC,tigrfam_DeoC - no_errors DERA HGNC ENSG00000023697 56 0 0.00 47 11 18.97 - - - DSP 0 genome.wustl.edu 37 6 7582932 7582932 + Missense_Mutation SNP G G C TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 6 7582932 7582932 G C SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.5437 p.E1813Q 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 41 0 0.00 34 27 44.26 - - - EN1 0 genome.wustl.edu 37 2 119600587 119600587 + Missense_Mutation SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 2 119600587 119600587 G A SNP EN1 ENST00000295206 human ensembl 69_37n -1 known missense c.1106 p.A369V 1.000 pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,prints_Homeodomain_engrailed pfam_Homeodomain,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 34 0 0.00 27 12 30.77 - - - FAM149A 0 genome.wustl.edu 37 4 187077211 187077211 + Silent SNP C C T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 4 187077211 187077211 C T SNP FAM149A ENST00000356371 human ensembl 69_37n +1 known silent c.1314 p.L438 0.035 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 56 0 0.00 52 10 16.13 - - - FAM160A2 0 genome.wustl.edu 37 11 6232928 6232928 + Silent SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 11 6232928 6232928 G A SNP FAM160A2 ENST00000265978 human ensembl 69_37n -1 known silent c.2769 p.G923 0.007 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 27 0 0.00 18 8 30.77 - - - FMN2 0 genome.wustl.edu 37 1 240256746 240256746 + Missense_Mutation SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 1 240256746 240256746 G A SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.1337 p.R446Q 0.617 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 21 0 0.00 26 6 18.75 - - - FYN 0 genome.wustl.edu 37 6 112015900 112015900 + Silent SNP T T C TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 6 112015900 112015900 T C SNP FYN ENST00000354650 human ensembl 69_37n -1 known silent c.1050 p.L350 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 43 0 0.00 31 23 42.59 - - - GRIK2 0 genome.wustl.edu 37 6 101847171 101847171 + Silent SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 6 101847171 101847171 G A SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known silent c.18 p.P6 0.999 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 54 0 0.00 56 9 13.64 - - - GRM1 0 genome.wustl.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 6 146350671 146350672 - T INS GRM1 ENST00000282753 human ensembl 69_37n +1 known frame_shift_ins c.18_19 p.P10fs 0.050:0.003 prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C - no_errors GRM1 HGNC ENSG00000152822 40 0 0.00 59 10 14.49 - - - IL12RB1 0 genome.wustl.edu 37 19 18188415 18188415 + Missense_Mutation SNP G G T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 19 18188415 18188415 G T SNP IL12RB1 ENST00000430026 human ensembl 69_37n -1 known missense c.460 p.Q154K 0.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 31 0 0.00 24 4 14.29 - - - INMT 0 genome.wustl.edu 37 7 30795418 30795418 + Missense_Mutation SNP C C A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 7 30795418 30795418 C A SNP INMT ENST00000013222 human ensembl 69_37n +1 known missense c.743 p.A248D 0.045 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 26 0 0.00 17 13 43.33 - - - KIAA2026 0 genome.wustl.edu 37 9 5988477 5988477 + Missense_Mutation SNP C C A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 9 5988477 5988477 C A SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.662 p.G221V 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 60 0 0.00 47 8 14.55 - - - LAMB2 0 genome.wustl.edu 37 3 49168209 49168209 + Missense_Mutation SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 3 49168209 49168209 G A SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known missense c.1000 p.R334C 0.996 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 43 0 0.00 35 11 23.40 - - - MAP1B 0 genome.wustl.edu 37 5 71492990 71492991 + Frame_Shift_Ins INS - - C TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 5 71492990 71492991 - C INS MAP1B ENST00000296755 human ensembl 69_37n +1 known frame_shift_ins c.3808_3809 p.L1272fs 1.000:1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 30 0 0.00 26 10 27.78 - - - MAP2 0 genome.wustl.edu 37 2 210560612 210560612 + Nonsense_Mutation SNP G G T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 2 210560612 210560612 G T SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known nonsense c.3718 p.E1240* 0.989 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 44 0 0.00 39 9 18.75 - - - MS4A14 0 genome.wustl.edu 37 11 60184021 60184021 + Missense_Mutation SNP C C T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 11 60184021 60184021 C T SNP MS4A14 ENST00000300187 human ensembl 69_37n +1 known missense c.1580 p.S527F 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 34 0 0.00 30 6 16.67 - - - MYO6 0 genome.wustl.edu 37 6 76551053 76551054 + Frame_Shift_Ins INS - - TA TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 6 76551053 76551054 - TA INS MYO6 ENST00000369981 human ensembl 69_37n +1 known frame_shift_ins c.774_775 p.I258fs 0.991:1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 63 0 0.00 89 17 16.04 - - - PGBD1 0 genome.wustl.edu 37 6 28269126 28269126 + Missense_Mutation SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 6 28269126 28269126 G A SNP PGBD1 ENST00000259883 human ensembl 69_37n +1 known missense c.1495 p.E499K 1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 27 0 0.00 39 12 23.08 - - - PI16 0 genome.wustl.edu 37 6 36922584 36922584 + Silent SNP A A G TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 6 36922584 36922584 A G SNP PI16 ENST00000373674 human ensembl 69_37n +1 known silent c.48 p.L16 0.602 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 33 0 0.00 18 5 21.74 - - - PLB1 0 genome.wustl.edu 37 2 28775833 28775833 + Missense_Mutation SNP C C T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 2 28775833 28775833 C T SNP PLB1 ENST00000404858 human ensembl 69_37n +1 putative missense c.1151 p.T384I 0.046 NULL pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLB1 HGNC ENSG00000163803 50 0 0.00 49 10 16.95 - - - POC1A 0 genome.wustl.edu 37 3 52109949 52109949 + Missense_Mutation SNP T T G TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 3 52109949 52109949 T G SNP POC1A ENST00000296484 human ensembl 69_37n -1 known missense c.1178 p.Q393P 1.000 NULL pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors POC1A HGNC ENSG00000164087 48 0 0.00 12 9 42.86 - - - RAB9B 0 genome.wustl.edu 37 X 103080689 103080689 + Missense_Mutation SNP T T G TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc X 103080689 103080689 T G SNP RAB9B ENST00000243298 human ensembl 69_37n -1 known missense c.26 p.K9T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB9B HGNC ENSG00000123570 31 0 0.00 14 8 36.36 - - - RFC2 0 genome.wustl.edu 37 7 73651677 73651677 + Missense_Mutation SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 7 73651677 73651677 G A SNP RFC2 ENST00000485545 human ensembl 69_37n -1 known missense c.232 p.P78S 0.000 NULL superfamily_DNA_pol3_clamp-load_cplx_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RFC2 HGNC ENSG00000049541 58 0 0.00 29 11 27.50 - - - RNF182 0 genome.wustl.edu 37 6 13977923 13977923 + Missense_Mutation SNP G G T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 6 13977923 13977923 G T SNP RNF182 ENST00000488300 human ensembl 69_37n +1 known missense c.573 p.L191F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 90 0 0.00 105 34 24.46 - - - SLC8A1 0 genome.wustl.edu 37 2 40656069 40656069 + Missense_Mutation SNP G G T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 2 40656069 40656069 G T SNP SLC8A1 ENST00000332839 human ensembl 69_37n -1 known missense c.1352 p.A451E 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 14 0 0.00 18 5 21.74 - - - SNX19 0 genome.wustl.edu 37 11 130781614 130781614 + Missense_Mutation SNP T T C TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 11 130781614 130781614 T C SNP SNX19 ENST00000265909 human ensembl 69_37n -1 known missense c.1727 p.Y576C 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 73 0 0.00 29 29 50.00 - - - STAG2 0 genome.wustl.edu 37 X 123196791 123196791 + Missense_Mutation SNP A A T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc X 123196791 123196791 A T SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known missense c.1678 p.R560W 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 43 0 0.00 23 19 45.24 - - - TMX3 0 genome.wustl.edu 37 18 66354926 66354926 + Silent SNP G G T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 18 66354926 66354926 G T SNP TMX3 ENST00000299608 human ensembl 69_37n -1 known silent c.714 p.L238 0.993 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 40 0 0.00 38 16 29.63 - - - TP53 0 genome.wustl.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 17 7577568 7577568 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.713 p.C238F 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 40 0 0.00 13 15 53.57 - - - TSEN54 0 genome.wustl.edu 37 17 73520470 73520470 + Silent SNP T T C TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 17 73520470 73520470 T C SNP TSEN54 ENST00000333213 human ensembl 69_37n +1 known silent c.1558 p.L520 0.999 NULL NULL - no_errors TSEN54 HGNC ENSG00000182173 59 0 0.00 55 10 15.38 - - - UNC13B 0 genome.wustl.edu 37 9 35295823 35295823 + Silent SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 9 35295823 35295823 G A SNP UNC13B ENST00000396787 human ensembl 69_37n +1 known silent c.693 p.P231 0.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 57 0 0.00 14 24 63.16 - - - USH2A 0 genome.wustl.edu 37 1 216246478 216246479 + Frame_Shift_Ins INS - - T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 1 216246478 216246479 - T INS USH2A ENST00000366943 human ensembl 69_37n -1 known frame_shift_ins c.5737_5736 p.E1912fs 0.002:0.001 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 39 0 0.00 70 11 13.58 - - - YTHDF1 0 genome.wustl.edu 37 20 61834989 61834989 + Silent SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 20 61834989 61834989 G A SNP YTHDF1 ENST00000370339 human ensembl 69_37n -1 known silent c.303 p.H101 0.006 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 34 0 0.00 65 17 20.48 - - - ZAN 0 genome.wustl.edu 37 7 100385563 100385563 + Frame_Shift_Del DEL C C - TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 7 100385563 100385563 C - DEL ZAN ENST00000546292 human ensembl 69_37n +1 known frame_shift_del c.7029 p.F2344fs 0.005 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 25 0 0.00 7 2 14.29 - - - ZFP36L2 0 genome.wustl.edu 37 2 43453434 43453434 + Silent SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 2 43453434 43453434 G A SNP ZFP36L2 ENST00000282388 human ensembl 69_37n -1 known silent c.21 p.S7 0.998 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 27 0 0.00 21 11 34.38 - - - ZNF233 0 genome.wustl.edu 37 19 44778658 44778658 + Silent SNP G G A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 19 44778658 44778658 G A SNP ZNF233 ENST00000391958 human ensembl 69_37n +1 known silent c.1845 p.T615 0.042 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 ZNF233 HGNC ENSG00000159915 52 0 0.00 61 16 20.51 - - - ZP4 0 genome.wustl.edu 37 1 238051727 238051727 + Nonsense_Mutation SNP C C A TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db4526d4-e344-4b5a-bb66-fd43b41764ca 6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc 1 238051727 238051727 C A SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known nonsense c.484 p.G162* 0.001 pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 44 0 0.00 73 11 13.10 - - -