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 AASDHPPT 0 genome.wustl.edu 37 11 105962133 105962133 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 11 105962133 105962133 G C SNP AASDHPPT ENST00000278618 human ensembl 69_37n +1 known missense c.622 p.D208H 1.000 superfamily_4-PPantetheinyl_Trfase pfam_4-PPantetheinyl_Trfase,superfamily_4-PPantetheinyl_Trfase - no_errors AASDHPPT HGNC ENSG00000149313 79 0 0.00 52 10 16.13 - - - ADCY10 0 genome.wustl.edu 37 1 167787330 167787330 + Missense_Mutation SNP T T A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 167787330 167787330 T A SNP ADCY10 ENST00000367851 human ensembl 69_37n -1 known missense c.4462 p.S1488C 0.098 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 65 0 0.00 117 23 16.43 - - - AIFM1 0 genome.wustl.edu 37 X 129263589 129263589 + Silent SNP A A T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 X 129263589 129263589 A T SNP AIFM1 ENST00000287295 human ensembl 69_37n -1 known silent c.1785 p.G595 0.994 superfamily_FAD/NAD-linked_Rdtase_dimer pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 79 0 0.00 106 25 19.08 - - - ANK3 0 genome.wustl.edu 37 10 61822913 61822913 + Nonsense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 10 61822913 61822913 C A SNP ANK3 ENST00000514197 human ensembl 69_37n -1 novel nonsense c.232 p.E78* 1.000 superfamily_DEATH-like pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death - no_start_codon:pseudogene:no_stop_codon ANK3 HGNC ENSG00000151150 66 0 0.00 39 17 30.36 - - - ANKK1 0 genome.wustl.edu 37 11 113264435 113264435 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 11 113264435 113264435 C G SNP ANKK1 ENST00000303941 human ensembl 69_37n +1 known missense c.418 p.P140A 0.715 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_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ANKK1 HGNC ENSG00000170209 29 0 0.00 37 6 13.95 - - - APBA1 0 genome.wustl.edu 37 9 72130950 72130950 + Missense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 9 72130950 72130950 C A SNP APBA1 ENST00000265381 human ensembl 69_37n -1 known missense c.1177 p.D393Y 1.000 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA1 HGNC ENSG00000107282 19 0 0.00 21 9 30.00 - - - ARL17B 0 genome.wustl.edu 37 17 44430254 44430254 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 17 44430254 44430254 G C SNP ARL17B ENST00000450673 human ensembl 69_37n -1 known missense c.191 p.A64G 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL17B HGNC ENSG00000228696 9 0 0.00 2 4 66.67 - - - ASB9 0 genome.wustl.edu 37 X 15262744 15262744 + Missense_Mutation SNP A A G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 X 15262744 15262744 A G SNP ASB9 ENST00000380488 human ensembl 69_37n -1 known missense c.769 p.S257P 0.834 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB9 HGNC ENSG00000102048 53 0 0.00 69 16 18.82 - - - ATF4P4 0 genome.wustl.edu 37 11 113660393 113660394 + RNA DEL TT TT - TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 11 113660393 113660394 TT - DEL ATF4P4 ENST00000393544 human ensembl 69_37n +1 known rna NULL NULL 1.000:1.000 - - - no_errors ATF4P4 HGNC ENSG00000256167 25 0 0.00 8 9 45.00 - - - AXL 0 genome.wustl.edu 37 19 41736883 41736883 + Missense_Mutation SNP A A G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 19 41736883 41736883 A G SNP AXL ENST00000301178 human ensembl 69_37n +1 known missense c.598 p.T200A 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 11 0 0.00 28 9 24.32 - - - BIN2 0 genome.wustl.edu 37 12 51693051 51693051 + Missense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 12 51693051 51693051 C A SNP BIN2 ENST00000267012 human ensembl 69_37n -1 known missense c.538 p.A180S 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 55 0 0.00 82 11 11.70 - - - BPI 0 genome.wustl.edu 37 20 36935973 36935973 + Missense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 20 36935973 36935973 C A SNP BPI ENST00000262865 human ensembl 69_37n +1 known missense c.147 p.S49R 0.983 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPI HGNC ENSG00000101425 17 0 0.00 22 11 33.33 - - - C12orf75 0 genome.wustl.edu 37 12 105760448 105760448 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 12 105760448 105760448 C G SNP C12orf75 ENST00000443585 human ensembl 69_37n +1 known missense c.161 p.S54C 0.707 NULL NULL - no_errors C12orf75 HGNC ENSG00000235162 67 0 0.00 52 36 40.91 - - - C1orf173 0 genome.wustl.edu 37 1 75037611 75037611 + Missense_Mutation SNP T T A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 75037611 75037611 T A SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known missense c.3783 p.Q1261H 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 51 0 0.00 83 12 12.63 - - - CARD9 0 genome.wustl.edu 37 9 139261697 139261697 + Missense_Mutation SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 9 139261697 139261697 C T SNP CARD9 ENST00000371732 human ensembl 69_37n -1 known missense c.1282 p.E428K 1.000 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 30 0 0.00 65 16 19.75 - - - CCDC142 0 genome.wustl.edu 37 2 74708475 74708475 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 2 74708475 74708475 G C SNP CCDC142 ENST00000393965 human ensembl 69_37n -1 known missense c.1133 p.A378G 0.603 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 63 0 0.00 113 22 16.30 - - - CCT6P3 0 genome.wustl.edu 37 7 64533818 64533818 + Splice_Site DEL G G - TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 7 64533818 64533818 G - DEL CCT6P3 ENST00000426828 human ensembl 69_37n +1 known splice_site_del c.NULL NULL 0.998 - - - no_errors CCT6P3 HGNC ENSG00000234585 12 0 0.00 4 2 33.33 - - - CDA 0 genome.wustl.edu 37 1 20944945 20944945 + Missense_Mutation SNP T T G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 20944945 20944945 T G SNP CDA ENST00000375071 human ensembl 69_37n +1 known missense c.325 p.F109V 1.000 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,tigrfam_Cyt_deam_tetra pfam_CMP_dCMP_Zn-bd,pfam_Cyd/dCyd_deaminase_Zn-bd,superfamily_Cytidine_deaminase-like,tigrfam_Cyt_deam_tetra - no_errors CDA HGNC ENSG00000158825 17 0 0.00 21 5 19.23 - - - CKMT1B 0 genome.wustl.edu 37 15 43890514 43890514 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 15 43890514 43890514 C G SNP CKMT1B ENST00000300283 human ensembl 69_37n +1 known missense c.1000 p.L334V 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT1B HGNC ENSG00000237289 50 0 0.00 80 21 20.59 - - - COL14A1 0 genome.wustl.edu 37 8 121239591 121239591 + Missense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 8 121239591 121239591 C A SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known missense c.2137 p.L713I 1.000 superfamily_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 40 0 0.00 81 12 12.90 - - - CROCC 0 genome.wustl.edu 37 1 17264148 17264148 + Silent SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 17264148 17264148 G C SNP CROCC ENST00000375541 human ensembl 69_37n +1 known silent c.1206 p.L402 0.952 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 46 0 0.00 46 14 23.33 - - - CRYM 0 genome.wustl.edu 37 16 21288827 21288827 + Silent SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 16 21288827 21288827 G A SNP CRYM ENST00000219599 human ensembl 69_37n -1 known silent c.249 p.R83 0.968 pfam_ODC_Mu_crystall pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420 - no_errors CRYM HGNC ENSG00000103316 19 0 0.00 14 13 48.15 - - - CT47B1 0 genome.wustl.edu 37 X 120009232 120009234 + In_Frame_Del DEL TCC TCC - TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 X 120009232 120009234 TCC - DEL CT47B1 ENST00000371311 human ensembl 69_37n -1 known in_frame_del c.293_291 p.E99in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 11 0 0.00 13 9 40.91 - - - DCLK2 0 genome.wustl.edu 37 4 151153843 151153843 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 4 151153843 151153843 C G SNP DCLK2 ENST00000302176 human ensembl 69_37n +1 known missense c.1480 p.L494V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK2 HGNC ENSG00000170390 51 0 0.00 51 8 13.56 - - - DNAH9 0 genome.wustl.edu 37 17 11597316 11597316 + Splice_Site SNP G G T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 17 11597316 11597316 G T SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known splice_site c.4745+1 e21+1 1.000 - - - no_errors DNAH9 HGNC ENSG00000007174 43 0 0.00 20 20 50.00 - - - DNAI1 0 genome.wustl.edu 37 9 34514510 34514510 + Nonsense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 9 34514510 34514510 G A SNP DNAI1 ENST00000242317 human ensembl 69_37n +1 known nonsense c.1688 p.W563* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 27 0 0.00 27 20 42.55 - - - DSPP 0 genome.wustl.edu 37 4 88537096 88537096 + Silent SNP T T C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 4 88537096 88537096 T C SNP DSPP ENST00000282478 human ensembl 69_37n +1 known silent c.3282 p.S1094 0.001 NULL NULL - no_errors DSPP HGNC ENSG00000152591 12 0 0.00 19 8 29.63 - - - ENSG00000248710 0 genome.wustl.edu 37 3 160156484 160156484 + Missense_Mutation SNP A A C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 3 160156484 160156484 A C SNP ENSG00000248710 ENST00000483754 human ensembl 69_37n -1 known missense c.488 p.L163R 0.443 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 62 0 0.00 35 11 23.91 - - - ERMP1 0 genome.wustl.edu 37 9 5805055 5805055 + Missense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 9 5805055 5805055 C A SNP ERMP1 ENST00000339450 human ensembl 69_37n -1 known missense c.1886 p.G629V 0.001 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 52 0 0.00 27 11 28.95 - - - ESF1 0 genome.wustl.edu 37 20 13699616 13699616 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 20 13699616 13699616 G C SNP ESF1 ENST00000202816 human ensembl 69_37n -1 known missense c.2054 p.S685W 0.997 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 77 0 0.00 108 41 27.52 - - - FAM105A 0 genome.wustl.edu 37 5 14609028 14609028 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 5 14609028 14609028 C G SNP FAM105A ENST00000274217 human ensembl 69_37n +1 known missense c.799 p.L267V 0.026 prints_FAM105 prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 54 0 0.00 53 6 10.17 - - - FAM13B 0 genome.wustl.edu 37 5 137292177 137292177 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 5 137292177 137292177 C G SNP FAM13B ENST00000425075 human ensembl 69_37n -1 known missense c.1142 p.R381T 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 68 0 0.00 49 7 12.50 - - - FAM184A 0 genome.wustl.edu 37 6 119337997 119337997 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 6 119337997 119337997 G C SNP FAM184A ENST00000338891 human ensembl 69_37n -1 known missense c.1445 p.T482S 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 87 0 0.00 90 23 20.35 - - - FAM65C 0 genome.wustl.edu 37 20 49232576 49232576 + Missense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 20 49232576 49232576 G A SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known missense c.311 p.S104F 0.119 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 55 0 0.00 97 13 11.82 - - - FBXW7 0 genome.wustl.edu 37 4 153250888 153250888 + Missense_Mutation SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 4 153250888 153250888 C T SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.1172 p.G391D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 42 0 0.00 19 23 54.76 - - - FCRL3 0 genome.wustl.edu 37 1 157648560 157648560 + Missense_Mutation SNP T T A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 157648560 157648560 T A SNP FCRL3 ENST00000368186 human ensembl 69_37n -1 known missense c.2145 p.E715D 0.002 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL3 HGNC ENSG00000160856 70 0 0.00 133 20 13.07 - - - GAB3 0 genome.wustl.edu 37 X 153908516 153908516 + Silent SNP G G T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 X 153908516 153908516 G T SNP GAB3 ENST00000424127 human ensembl 69_37n -1 known silent c.1540 p.R514 0.004 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 34 0 0.00 29 8 21.05 - - - GBP4 0 genome.wustl.edu 37 1 89660995 89660995 + Silent SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 89660995 89660995 C G SNP GBP4 ENST00000355754 human ensembl 69_37n -1 known silent c.348 p.L116 0.993 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 50 0 0.00 51 11 17.74 - - - GCFC1 0 genome.wustl.edu 37 21 34117167 34117167 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 21 34117167 34117167 C G SNP GCFC1 ENST00000331923 human ensembl 69_37n -1 known missense c.2126 p.G709A 0.998 pfam_GCFC_dom pfam_GCFC_dom - no_errors GCFC1 HGNC ENSG00000159086 74 0 0.00 60 8 11.76 - - - GPR149 0 genome.wustl.edu 37 3 154147332 154147332 + Missense_Mutation SNP G G T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 3 154147332 154147332 G T SNP GPR149 ENST00000389740 human ensembl 69_37n -1 known missense c.73 p.L25I 0.019 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR149 HGNC ENSG00000174948 35 0 0.00 26 13 33.33 - - - GPR98 0 genome.wustl.edu 37 5 90049486 90049486 + Nonsense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 5 90049486 90049486 C A SNP GPR98 ENST00000509621 human ensembl 69_37n +1 putative nonsense c.3914 p.S1305* 0.121 NULL pfam_Calx_beta,pfam_EPTP,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GPR98 HGNC ENSG00000164199 66 0 0.00 19 17 47.22 - - - HOXB3 0 genome.wustl.edu 37 17 46629656 46629656 + Missense_Mutation SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 17 46629656 46629656 C T SNP HOXB3 ENST00000311626 human ensembl 69_37n -1 known missense c.181 p.A61T 0.974 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 13 0 0.00 9 16 64.00 - - - HRNR 0 genome.wustl.edu 37 1 152186041 152186042 + Frame_Shift_Ins INS - - GG TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 152186041 152186042 - GG INS HRNR ENST00000368801 human ensembl 69_37n -1 known frame_shift_ins c.8064_8063 p.L2688fs 0.000:0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 8 0 0.00 4 2 33.33 - - - HYDIN 0 genome.wustl.edu 37 16 71101180 71101180 + Silent SNP T T C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 16 71101180 71101180 T C SNP HYDIN ENST00000288168 human ensembl 69_37n -1 known silent c.2139 p.P713 0.016 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 13 0 0.00 18 8 30.77 - - - IFT20 0 genome.wustl.edu 37 17 26658938 26658938 + Missense_Mutation SNP T T A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 17 26658938 26658938 T A SNP IFT20 ENST00000585089 human ensembl 69_37n -1 known missense c.152 p.E51V 1.000 NULL NULL - no_errors IFT20 HGNC ENSG00000109083 85 0 0.00 70 53 42.74 - - - INTS12 0 genome.wustl.edu 37 4 106614625 106614625 + Missense_Mutation SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 4 106614625 106614625 C T SNP INTS12 ENST00000340139 human ensembl 69_37n -1 known missense c.328 p.E110K 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 72 0 0.00 62 7 10.14 - - - IREB2 0 genome.wustl.edu 37 15 78790455 78790455 + Missense_Mutation SNP A A C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 15 78790455 78790455 A C SNP IREB2 ENST00000258886 human ensembl 69_37n +1 known missense c.2862 p.L954F 0.997 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 78 0 0.00 39 8 17.02 - - - KIF1A 0 genome.wustl.edu 37 2 241700197 241700197 + Missense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 2 241700197 241700197 G A SNP KIF1A ENST00000498729 human ensembl 69_37n -1 known missense c.2329 p.P777S 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 21 0 0.00 19 11 36.67 - - - KLHL1 0 genome.wustl.edu 37 13 70535549 70535549 + Silent SNP A A G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 13 70535549 70535549 A G SNP KLHL1 ENST00000377844 human ensembl 69_37n -1 known silent c.708 p.Y236 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 57 0 0.00 48 8 14.29 - - - KRIT1 0 genome.wustl.edu 37 7 91864817 91864817 + Missense_Mutation SNP T T C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 7 91864817 91864817 T C SNP KRIT1 ENST00000340022 human ensembl 69_37n -1 known missense c.629 p.Y210C 1.000 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 80 0 0.00 118 17 12.59 - - - LRRC16A 0 genome.wustl.edu 37 6 25600824 25600824 + Missense_Mutation SNP G G T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 6 25600824 25600824 G T SNP LRRC16A ENST00000329474 human ensembl 69_37n +1 novel missense c.3402 p.E1134D 0.075 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 30 0 0.00 19 4 17.39 - - - LURAP1L 0 genome.wustl.edu 37 9 12775717 12775717 + Frame_Shift_Del DEL G G - TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 9 12775717 12775717 G - DEL LURAP1L ENST00000319264 human ensembl 69_37n +1 known frame_shift_del c.3 p.E2fs 1.000 NULL NULL - no_errors LURAP1L HGNC ENSG00000153714 8 0 0.00 4 2 33.33 - - - MBTD1 0 genome.wustl.edu 37 17 49270117 49270117 + Silent SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 17 49270117 49270117 G C SNP MBTD1 ENST00000586898 human ensembl 69_37n -1 known silent c.261 p.V87 0.998 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt - no_start_codon MBTD1 HGNC ENSG00000011258 49 0 0.00 65 16 19.75 - - - MEF2C 0 genome.wustl.edu 37 5 88100452 88100452 + Missense_Mutation SNP T T A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 5 88100452 88100452 T A SNP MEF2C ENST00000437473 human ensembl 69_37n -1 known missense c.221 p.E74V 1.000 superfamily_TF_MADSbox pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 59 0 0.00 85 17 16.67 - - - MUC21 0 genome.wustl.edu 37 6 30954438 30954438 + Silent SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 6 30954438 30954438 C T SNP MUC21 ENST00000376296 human ensembl 69_37n +1 known silent c.486 p.A162 0.000 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 30 0 0.00 44 9 16.98 - - - MUC4 0 genome.wustl.edu 37 3 195505807 195505807 + Missense_Mutation SNP G G T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 3 195505807 195505807 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.12644 p.S4215Y 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 109 0 0.00 216 25 10.37 - - - NLRP9 0 genome.wustl.edu 37 19 56244393 56244393 + Missense_Mutation SNP T T A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 19 56244393 56244393 T A SNP NLRP9 ENST00000332836 human ensembl 69_37n -1 known missense c.804 p.E268D 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 54 0 0.00 34 13 27.66 - - - NPHP4 0 genome.wustl.edu 37 1 5923388 5923388 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 5923388 5923388 G C SNP NPHP4 ENST00000378156 human ensembl 69_37n -1 known missense c.4218 p.I1406M 0.999 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 57 0 0.00 90 11 10.89 - - - NUDT9 0 genome.wustl.edu 37 4 88363019 88363019 + Missense_Mutation SNP T T G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 4 88363019 88363019 T G SNP NUDT9 ENST00000302174 human ensembl 69_37n +1 known missense c.482 p.L161R 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT9 HGNC ENSG00000170502 33 0 0.00 34 5 12.82 - - - PALM2-AKAP2 0 genome.wustl.edu 37 9 112898669 112898669 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 9 112898669 112898669 G C SNP PALM2-AKAP2 ENST00000374530 human ensembl 69_37n +1 known missense c.845 p.R282T 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 46 0 0.00 46 16 25.81 - - - PALM3 0 genome.wustl.edu 37 19 14165323 14165323 + Silent SNP T T A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 19 14165323 14165323 T A SNP PALM3 ENST00000340790 human ensembl 69_37n -1 known silent c.1116 p.G372 0.000 NULL NULL - no_errors PALM3 HGNC ENSG00000187867 56 0 0.00 74 15 16.67 - - - PCK2 0 genome.wustl.edu 37 14 24572061 24572061 + Missense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 14 24572061 24572061 C A SNP PCK2 ENST00000216780 human ensembl 69_37n +1 known missense c.1334 p.P445H 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 37 0 0.00 39 13 25.00 - - - POFUT2 0 genome.wustl.edu 37 21 46703436 46703436 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 21 46703436 46703436 C G SNP POFUT2 ENST00000349485 human ensembl 69_37n -1 known missense c.389 p.G130A 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 61 0 0.00 73 21 22.34 - - - PPDPF 0 genome.wustl.edu 37 20 62152940 62152940 + Missense_Mutation SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 20 62152940 62152940 C T SNP PPDPF ENST00000370177 human ensembl 69_37n +1 known missense c.131 p.P44L 1.000 NULL NULL - no_errors PPDPF HGNC ENSG00000125534 19 0 0.00 37 18 32.73 - - - PTGER2 0 genome.wustl.edu 37 14 52793971 52793971 + Silent SNP A A C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 14 52793971 52793971 A C SNP PTGER2 ENST00000245457 human ensembl 69_37n +1 known silent c.876 p.R292 0.003 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP2_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 69 0 0.00 63 33 34.38 - - - PTPRG 0 genome.wustl.edu 37 3 62204610 62204610 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 3 62204610 62204610 G C SNP PTPRG ENST00000474889 human ensembl 69_37n +1 known missense c.2241 p.L747F 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 63 0 0.00 98 15 13.27 - - - RAB11FIP4 0 genome.wustl.edu 37 17 29758839 29758839 + Silent SNP A A G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 17 29758839 29758839 A G SNP RAB11FIP4 ENST00000325874 human ensembl 69_37n +1 known silent c.168 p.K56 1.000 pfscan_EF_HAND_2 pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2 - no_errors RAB11FIP4 HGNC ENSG00000131242 18 0 0.00 23 6 20.69 - - - RET 0 genome.wustl.edu 37 10 43607665 43607665 + Silent SNP T T C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 10 43607665 43607665 T C SNP RET ENST00000355710 human ensembl 69_37n +1 known silent c.1641 p.D547 0.582 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 29 0 0.00 29 24 45.28 - - - RTN3 0 genome.wustl.edu 37 11 63523641 63523644 + Frame_Shift_Del DEL AAGT AAGT - TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 11 63523641 63523644 AAGT - DEL RTN3 ENST00000377819 human ensembl 69_37n +1 known frame_shift_del c.3052_3053 p.K1018fs 1.000:1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 69 0 0.00 55 26 32.10 - - - RYR3 0 genome.wustl.edu 37 15 33928672 33928672 + Missense_Mutation SNP G G T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 15 33928672 33928672 G T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.3477 p.M1159I 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 68 0 0.00 56 14 20.00 - - - SEMA3A 0 genome.wustl.edu 37 7 83689801 83689801 + Missense_Mutation SNP A A T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 7 83689801 83689801 A T SNP SEMA3A ENST00000265362 human ensembl 69_37n -1 known missense c.527 p.L176Q 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC ENSG00000075213 63 0 0.00 28 7 20.00 - - - SLC12A5 0 genome.wustl.edu 37 20 44685909 44685909 + Missense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 20 44685909 44685909 G A SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.3295 p.G1099R 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 39 0 0.00 26 6 18.75 - - - SOD2 0 genome.wustl.edu 37 6 160109177 160109177 + Silent SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 6 160109177 160109177 G A SNP SOD2 ENST00000367055 human ensembl 69_37n -1 known silent c.324 p.N108 0.986 superfamily_Mn/Fe_SOD_C,pirsf_Mn/Fe_SOD pfam_Mn/Fe_SOD_C,pfam_Mn/Fe_SOD_N,superfamily_Mn/Fe_SOD_C,superfamily_Mn/Fe_SOD_N,pirsf_Mn/Fe_SOD,prints_Mn/Fe_SOD - no_errors SOD2 HGNC ENSG00000112096 57 0 0.00 54 6 10.00 - - - STARD9 0 genome.wustl.edu 37 15 42977487 42977487 + Missense_Mutation SNP C C G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 15 42977487 42977487 C G SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known missense c.3711 p.H1237Q 0.009 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 34 0 0.00 25 12 32.43 - - - STON1-GTF2A1L 0 genome.wustl.edu 37 2 48873664 48873664 + Missense_Mutation SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 2 48873664 48873664 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 69_37n +1 known missense c.2573 p.P858L 0.962 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 42 0 0.00 39 20 33.90 - - - SWI5 0 genome.wustl.edu 37 9 131038582 131038582 + Nonsense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 9 131038582 131038582 G A SNP SWI5 ENST00000418976 human ensembl 69_37n +1 novel nonsense c.60 p.W20* 0.000 NULL pfam_DNA-repair_Swi5 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SWI5 HGNC ENSG00000175854 8 0 0.00 2 6 75.00 - - - TCEB3 0 genome.wustl.edu 37 1 24075528 24075528 + Silent SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 24075528 24075528 G A SNP TCEB3 ENST00000418390 human ensembl 69_37n +1 known silent c.171 p.K57 1.000 pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 74 0 0.00 62 10 13.89 - - - TMEM18 0 genome.wustl.edu 37 2 669836 669836 + Missense_Mutation SNP T T C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 2 669836 669836 T C SNP TMEM18 ENST00000281017 human ensembl 69_37n -1 known missense c.248 p.Y83C 1.000 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 36 0 0.00 15 12 44.44 - - - TRAPPC8 0 genome.wustl.edu 37 18 29487548 29487548 + Nonsense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 18 29487548 29487548 G A SNP TRAPPC8 ENST00000283351 human ensembl 69_37n -1 known nonsense c.1264 p.Q422* 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 38 0 0.00 55 10 15.38 - - - TSR2 0 genome.wustl.edu 37 X 54467208 54467208 + Missense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 X 54467208 54467208 G A SNP TSR2 ENST00000375151 human ensembl 69_37n +1 known missense c.167 p.R56H 0.917 pfam_Pre-rRNA_process_TSR2 pfam_Pre-rRNA_process_TSR2 - no_errors TSR2 HGNC ENSG00000158526 19 0 0.00 17 5 22.73 - - - TTN 0 genome.wustl.edu 37 2 179471857 179471857 + Silent SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 2 179471857 179471857 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.45768 p.I15256 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 77 0 0.00 52 25 32.47 - - - UBE2L6 0 genome.wustl.edu 37 11 57322087 57322087 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 11 57322087 57322087 G C SNP UBE2L6 ENST00000287156 human ensembl 69_37n -1 known missense c.133 p.P45A 1.000 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L6 HGNC ENSG00000156587 25 0 0.00 39 8 17.02 - - - VIPR2 0 genome.wustl.edu 37 7 158829459 158829459 + Nonsense_Mutation SNP G G T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 7 158829459 158829459 G T SNP VIPR2 ENST00000262178 human ensembl 69_37n -1 known nonsense c.732 p.Y244* 0.965 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 19 0 0.00 16 9 36.00 - - - ZBTB12 0 genome.wustl.edu 37 6 31868782 31868782 + Missense_Mutation SNP C C A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 6 31868782 31868782 C A SNP ZBTB12 ENST00000375527 human ensembl 69_37n -1 known missense c.301 p.V101F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 21 0 0.00 28 9 24.32 - - - ZNF642 0 genome.wustl.edu 37 1 40960790 40960790 + Missense_Mutation SNP T T A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 1 40960790 40960790 T A SNP ZNF642 ENST00000372705 human ensembl 69_37n +1 known missense c.640 p.L214M 0.705 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF642 HGNC ENSG00000187815 44 0 0.00 25 4 13.79 - - - ZNF662 0 genome.wustl.edu 37 3 42955921 42955921 + Missense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 3 42955921 42955921 G A SNP ZNF662 ENST00000328199 human ensembl 69_37n +1 known missense c.434 p.G145E 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF662 HGNC ENSG00000182983 45 0 0.00 33 11 25.00 - - - ZNF99 0 genome.wustl.edu 37 19 22939510 22939510 + Silent SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a1d7dafc-a755-44a6-b45b-dc6aae309d3e 126314e2-cbf4-40e6-9277-05857e870852 19 22939510 22939510 C T SNP ZNF99 ENST00000397104 human ensembl 69_37n -1 known silent c.2661 p.P887 0.077 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 ZNF99 HGNC ENSG00000213973 50 0 0.00 49 9 15.52 - - -