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 ABL1 0 genome.wustl.edu 37 9 133753945 133753945 + Missense_Mutation SNP A A T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 9 133753945 133753945 A T SNP ABL1 ENST00000372348 human ensembl 69_37n +1 known missense c.1471 p.M491L 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_F-actin_binding,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,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 36 0 0.00 44 12 21.43 - - - ACAN 0 genome.wustl.edu 37 15 89401123 89401123 + Silent SNP A A T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 15 89401123 89401123 A T SNP ACAN ENST00000439576 human ensembl 69_37n +1 known silent c.5307 p.A1769 0.117 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 65 0 0.00 99 29 22.66 - - - ANKZF1 0 genome.wustl.edu 37 2 220100577 220100577 + Missense_Mutation SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 2 220100577 220100577 G A SNP ANKZF1 ENST00000323348 human ensembl 69_37n +1 known missense c.1951 p.A651T 0.827 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 14 0 0.00 17 9 33.33 - - - BRCA1 0 genome.wustl.edu 37 17 41244296 41244296 + Silent SNP A A T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 17 41244296 41244296 A T SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known silent c.3252 p.L1084 0.000 pirsf_BRCA1 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 33 0 0.00 33 7 17.50 - - - BTK 0 genome.wustl.edu 37 X 100615095 100615095 + Missense_Mutation SNP C C T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 X 100615095 100615095 C T SNP BTK ENST00000308731 human ensembl 69_37n -1 known missense c.820 p.D274N 1.000 pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 73 0 0.00 51 36 41.38 - - - C21orf37 0 genome.wustl.edu 37 21 18814102 18814102 + Nonsense_Mutation SNP G G T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 21 18814102 18814102 G T SNP C21orf37 ENST00000440664 human ensembl 69_37n +1 known nonsense c.4 p.E2* 0.000 NULL NULL - no_errors C21orf37 HGNC ENSG00000232560 27 0 0.00 25 4 13.79 - - - CEACAM18 0 genome.wustl.edu 37 19 51984799 51984799 + Missense_Mutation SNP C C A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 19 51984799 51984799 C A SNP CEACAM18 ENST00000451626 human ensembl 69_37n +1 known missense c.736 p.P246T 0.002 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM18 HGNC ENSG00000213822 72 0 0.00 57 23 28.75 - - - COL6A1 0 genome.wustl.edu 37 21 47423450 47423450 + Silent SNP C C T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 21 47423450 47423450 C T SNP COL6A1 ENST00000361866 human ensembl 69_37n +1 known silent c.2610 p.D870 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 28 0 0.00 31 15 32.61 - - - DHRS4 0 genome.wustl.edu 37 14 24424346 24424346 + Silent SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 14 24424346 24424346 G A SNP DHRS4 ENST00000313250 human ensembl 69_37n +1 known silent c.231 p.Q77 0.984 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS4 HGNC ENSG00000157326 45 0 0.00 71 8 10.00 - - - FAM22D 0 genome.wustl.edu 37 10 89125892 89125892 + RNA SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 10 89125892 89125892 G A SNP FAM22D ENST00000465545 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors FAM22D HGNC ENSG00000214562 17 0 0.00 23 9 28.12 - - - GAN 0 genome.wustl.edu 37 16 81391441 81391441 + Missense_Mutation SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 16 81391441 81391441 G A SNP GAN ENST00000248272 human ensembl 69_37n +1 known missense c.878 p.R293Q 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000127688 71 0 0.00 39 30 43.48 - - - HNRNPF 0 genome.wustl.edu 37 10 43882627 43882627 + Missense_Mutation SNP A A G TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 10 43882627 43882627 A G SNP HNRNPF ENST00000337970 human ensembl 69_37n -1 known missense c.706 p.Y236H 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 56 0 0.00 60 27 31.03 - - - IDS 0 genome.wustl.edu 37 X 148584951 148584951 + Silent SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 X 148584951 148584951 G A SNP IDS ENST00000340855 human ensembl 69_37n -1 known silent c.309 p.Y103 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 36 0 0.00 42 21 33.33 - - - KLF6 0 genome.wustl.edu 37 10 3821561 3821561 + RNA SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 10 3821561 3821561 G A SNP KLF6 ENST00000173785 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors KLF6 HGNC ENSG00000067082 8 0 0.00 5 8 61.54 - - - KRT13 0 genome.wustl.edu 37 17 39659272 39659272 + Missense_Mutation SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 17 39659272 39659272 G A SNP KRT13 ENST00000246635 human ensembl 69_37n -1 known missense c.814 p.R272C 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 26 0 0.00 35 12 25.53 - - - LINC00650 0 genome.wustl.edu 37 21 35335100 35335100 + RNA SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 21 35335100 35335100 G A SNP LINC00650 ENST00000381181 human ensembl 69_37n +1 known rna NULL NULL 0.117 - - - no_errors LINC00650 HGNC ENSG00000205673 34 0 0.00 36 10 21.74 - - - LRRC42 0 genome.wustl.edu 37 1 54417833 54417833 + Missense_Mutation SNP A A C TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 1 54417833 54417833 A C SNP LRRC42 ENST00000319223 human ensembl 69_37n +1 known missense c.161 p.E54A 1.000 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 44 0 0.00 47 28 37.33 - - - LUZP1 0 genome.wustl.edu 37 1 23418097 23418097 + Silent SNP A A G TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 1 23418097 23418097 A G SNP LUZP1 ENST00000302291 human ensembl 69_37n -1 known silent c.2658 p.P886 0.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 56 0 0.00 57 19 25.00 - - - MAGEE2 0 genome.wustl.edu 37 X 75004573 75004573 + Missense_Mutation SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 X 75004573 75004573 G A SNP MAGEE2 ENST00000373359 human ensembl 69_37n -1 known missense c.314 p.T105M 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 17 0 0.00 19 9 32.14 - - - MBIP 0 genome.wustl.edu 37 14 36783731 36783731 + Missense_Mutation SNP A A C TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 14 36783731 36783731 A C SNP MBIP ENST00000416007 human ensembl 69_37n -1 known missense c.558 p.I186M 1.000 NULL NULL - no_errors MBIP HGNC ENSG00000151332 30 0 0.00 31 15 32.61 - - - MBIP 0 genome.wustl.edu 37 14 36783732 36783732 + Missense_Mutation SNP A A G TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 14 36783732 36783732 A G SNP MBIP ENST00000416007 human ensembl 69_37n -1 known missense c.557 p.I186T 1.000 NULL NULL - no_errors MBIP HGNC ENSG00000151332 30 0 0.00 31 15 32.61 - - - MIR4477A 0 genome.wustl.edu 37 9 68415353 68415353 + RNA SNP T T G TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 9 68415353 68415353 T G SNP MIR4477A ENST00000581659 human ensembl 69_37n +1 known rna NULL NULL 0.189 - - - no_errors MIR4477A HGNC ENSG00000266017 12 0 0.00 8 5 38.46 - - - MIR508 0 genome.wustl.edu 37 X 146318500 146318500 + RNA SNP T T C TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 X 146318500 146318500 T C SNP MIR508 ENST00000384857 human ensembl 69_37n -1 known rna NULL NULL 0.026 - - - no_errors MIR508 HGNC ENSG00000207589 47 0 0.00 27 25 48.08 - - - NACAD 0 genome.wustl.edu 37 7 45123881 45123881 + Missense_Mutation SNP C C T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 7 45123881 45123881 C T SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.1898 p.G633D 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 38 0 0.00 101 20 16.39 - - - NWD1 0 genome.wustl.edu 37 19 16908579 16908579 + Missense_Mutation SNP C C T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 19 16908579 16908579 C T SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known missense c.3341 p.S1114L 0.354 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 43 0 0.00 38 21 35.59 - - - NYNRIN 0 genome.wustl.edu 37 14 24878032 24878032 + Nonsense_Mutation SNP C C A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 14 24878032 24878032 C A SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known nonsense c.1032 p.C344* 0.390 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 31 0 0.00 41 15 26.79 - - - RBMXL3 0 genome.wustl.edu 37 X 114426378 114426378 + Missense_Mutation SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 X 114426378 114426378 G A SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known missense c.2374 p.G792R 0.932 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 50 0 0.00 81 48 37.21 - - - RCN1 0 genome.wustl.edu 37 11 32124950 32124950 + Frame_Shift_Del DEL A A - TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 11 32124950 32124950 A - DEL RCN1 ENST00000054950 human ensembl 69_37n +1 known frame_shift_del c.812 p.H271fs 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors RCN1 HGNC ENSG00000049449 77 0 0.00 78 21 21.21 - - - RCN1 0 genome.wustl.edu 37 11 32124952 32124953 + Frame_Shift_Del DEL TG TG - TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 11 32124952 32124953 TG - DEL RCN1 ENST00000054950 human ensembl 69_37n +1 known frame_shift_del c.814_815 p.W272fs 1.000:1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors RCN1 HGNC ENSG00000049449 82 0 0.00 78 21 21.21 - - - RNF187 0 genome.wustl.edu 37 1 228681782 228681782 + RNA SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 1 228681782 228681782 G A SNP RNF187 ENST00000482739 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RNF187 HGNC ENSG00000168159 10 0 0.00 10 10 50.00 - - - SCN2A 0 genome.wustl.edu 37 2 166179831 166179831 + Missense_Mutation SNP G G A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 2 166179831 166179831 G A SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.1837 p.V613M 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 33 0 0.00 30 16 34.78 - - - SPRED2 0 genome.wustl.edu 37 2 65561392 65561392 + Silent SNP C C T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 2 65561392 65561392 C T SNP SPRED2 ENST00000426832 human ensembl 69_37n -1 known silent c.258 p.E86 0.254 NULL pfam_EVH1,pfscan_EVH1 - no_start_codon SPRED2 HGNC ENSG00000198369 26 0 0.00 29 4 12.12 - - - TGM2 0 genome.wustl.edu 37 20 36766789 36766789 + Splice_Site SNP T T C TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 20 36766789 36766789 T C SNP TGM2 ENST00000361475 human ensembl 69_37n -1 known splice_site c.1343-2 e10-2 1.000 - - - no_errors TGM2 HGNC ENSG00000198959 38 0 0.00 45 22 32.84 - - - TMEM196 0 genome.wustl.edu 37 7 19765246 19765246 + Frame_Shift_Del DEL C C - TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 7 19765246 19765246 C - DEL TMEM196 ENST00000405764 human ensembl 69_37n -1 known frame_shift_del c.350 p.G117fs 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 59 0 0.00 80 33 29.20 - - - TRBV7-3 0 genome.wustl.edu 37 7 142247285 142247285 + Missense_Mutation SNP G G C TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 7 142247285 142247285 G C SNP TRBV7-3 ENST00000390361 human ensembl 69_37n -1 known missense c.171 p.S57R 0.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV7-3 HGNC ENSG00000211714 15 0 0.00 31 9 22.50 - - - TRBV7-3 0 genome.wustl.edu 37 7 142247288 142247288 + Silent SNP T T C TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 7 142247288 142247288 T C SNP TRBV7-3 ENST00000390361 human ensembl 69_37n -1 known silent c.168 p.Q56 0.005 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV7-3 HGNC ENSG00000211714 15 0 0.00 26 12 31.58 - - - TTN 0 genome.wustl.edu 37 2 179439401 179439401 + Missense_Mutation SNP C C A TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 2 179439401 179439401 C A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.63754 p.A21252S 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 53 0 0.00 42 8 16.00 - - - UCA1 0 genome.wustl.edu 37 19 15940075 15940075 + RNA SNP T T C TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 19 15940075 15940075 T C SNP UCA1 ENST00000397381 human ensembl 69_37n +1 known rna NULL NULL 0.012 - - - no_errors UCA1 HGNC ENSG00000214049 18 0 0.00 15 27 64.29 - - - USP4 0 genome.wustl.edu 37 3 49377435 49377435 + Missense_Mutation SNP C C T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 3 49377435 49377435 C T SNP USP4 ENST00000265560 human ensembl 69_37n -1 known missense c.23 p.R8H 0.341 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC ENSG00000114316 41 0 0.00 37 32 46.38 - - - ZNF334 0 genome.wustl.edu 37 20 45130701 45130703 + In_Frame_Del DEL CTT CTT - TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91e55d7f-2591-42d9-9044-6415471489a4 79fb420d-e3af-4d04-aad6-ee75efd4ab29 20 45130701 45130703 CTT - DEL ZNF334 ENST00000347606 human ensembl 69_37n -1 known in_frame_del c.1277_1275 p.R425in_frame_del 0.886:0.994:0.997 smart_Znf_C2H2-like,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 ZNF334 HGNC ENSG00000198185 42 0 0.00 32 17 34.00 - - -