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 ABCC8 0 genome.wustl.edu 37 11 17424297 17424297 + Missense_Mutation SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 11 17424297 17424297 G T SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known missense c.3564 p.D1188E 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 72 0 0.00 45 35 43.75 - - - AGBL5 0 genome.wustl.edu 37 2 27280266 27280266 + Missense_Mutation SNP C C T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 2 27280266 27280266 C T SNP AGBL5 ENST00000360131 human ensembl 69_37n +1 known missense c.1631 p.P544L 0.995 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 59 0 0.00 45 34 42.50 - - - ARHGEF15 0 genome.wustl.edu 37 17 8219172 8219172 + Silent SNP T T C TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 17 8219172 8219172 T C SNP ARHGEF15 ENST00000361926 human ensembl 69_37n +1 known silent c.1521 p.Y507 0.972 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 58 0 0.00 27 23 46.00 - - - ARID3B 0 genome.wustl.edu 37 15 74889163 74889163 + RNA SNP C C T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 15 74889163 74889163 C T SNP ARID3B ENST00000563567 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors ARID3B HGNC ENSG00000179361 43 0 0.00 15 4 21.05 - - - BAAT 0 genome.wustl.edu 37 9 104130496 104130496 + Missense_Mutation SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 9 104130496 104130496 G T SNP BAAT ENST00000259407 human ensembl 69_37n -1 known missense c.575 p.A192D 0.959 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 56 0 0.00 38 5 11.63 - - - C1orf65 0 genome.wustl.edu 37 1 223568468 223568468 + Nonsense_Mutation SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 1 223568468 223568468 G T SNP C1orf65 ENST00000366875 human ensembl 69_37n +1 known nonsense c.1651 p.E551* 0.996 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 27 0 0.00 56 12 17.65 - - - CASK 0 genome.wustl.edu 37 X 41416285 41416285 + Silent SNP C C T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 X 41416285 41416285 C T SNP CASK ENST00000378163 human ensembl 69_37n -1 known silent c.1806 p.S602 1.000 superfamily_SH3_domain pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 60 0 0.00 37 32 46.38 - - - CXCR6 0 genome.wustl.edu 37 3 45988437 45988437 + Missense_Mutation SNP T T C TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 3 45988437 45988437 T C SNP CXCR6 ENST00000304552 human ensembl 69_37n +1 known missense c.464 p.I155T 0.526 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR6,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR6 HGNC ENSG00000172215 51 0 0.00 41 22 34.92 - - - DMD 0 genome.wustl.edu 37 X 31950256 31950256 + Missense_Mutation SNP T T A TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 X 31950256 31950256 T A SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.6703 p.S2235C 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 82 0 0.00 35 29 45.31 - - - DNAAF2 0 genome.wustl.edu 37 14 50101796 50101796 + Silent SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 14 50101796 50101796 G T SNP DNAAF2 ENST00000298292 human ensembl 69_37n -1 known silent c.72 p.T24 0.084 NULL NULL - no_errors DNAAF2 HGNC ENSG00000165506 94 0 0.00 40 13 24.53 - - - EI24 0 genome.wustl.edu 37 11 125454349 125454349 + RNA SNP C C G TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 11 125454349 125454349 C G SNP EI24 ENST00000530985 human ensembl 69_37n +1 known rna NULL NULL 0.020 - - - no_errors EI24 HGNC ENSG00000149547 42 0 0.00 20 9 31.03 - - - EIF2AK1 0 genome.wustl.edu 37 7 6080848 6080848 + Missense_Mutation SNP T T A TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 7 6080848 6080848 T A SNP EIF2AK1 ENST00000199389 human ensembl 69_37n -1 known missense c.794 p.E265V 0.468 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_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 EIF2AK1 HGNC ENSG00000086232 36 0 0.00 21 12 34.29 - - - FAM99B 0 genome.wustl.edu 37 11 1705462 1705462 + RNA SNP G G A TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 11 1705462 1705462 G A SNP FAM99B ENST00000382166 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors FAM99B HGNC ENSG00000205865 62 0 0.00 51 26 33.77 - - - FLJ10661 0 genome.wustl.edu 37 8 8098038 8098038 + RNA SNP T T C TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 8 8098038 8098038 T C SNP FLJ10661 ENST00000310542 human ensembl 69_37n +1 known rna NULL NULL 0.793 - - - no_errors RP11-556O5.3 Clone_based_vega_gene ENSG00000173295 93 0 0.00 38 5 11.36 - - - GLTP 0 genome.wustl.edu 37 12 110290498 110290498 + Missense_Mutation SNP C C T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 12 110290498 110290498 C T SNP GLTP ENST00000540772 human ensembl 69_37n -1 putative missense c.412 p.A138T 0.072 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GLTP HGNC ENSG00000139433 52 0 0.00 56 8 12.50 - - - HECW1 0 genome.wustl.edu 37 7 43484586 43484586 + Silent SNP G G A TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 7 43484586 43484586 G A SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known silent c.1815 p.T605 0.042 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 14 0 0.00 2 5 71.43 - - - HIC2 0 genome.wustl.edu 37 22 21800989 21800989 + Missense_Mutation SNP G G C TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 22 21800989 21800989 G C SNP HIC2 ENST00000407464 human ensembl 69_37n +1 known missense c.1805 p.R602P 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 HIC2 HGNC ENSG00000169635 88 0 0.00 61 9 12.86 - - - IK 0 genome.wustl.edu 37 5 140027592 140027593 + Splice_Site INS - - GT TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 5 140027592 140027593 - GT INS IK ENST00000523672 human ensembl 69_37n +1 known splice_site_ins c.NULL NULL 0.000:0.000 - - - no_errors IK HGNC ENSG00000113141 11 0 0.00 22 8 26.67 - - - KIAA0430 0 genome.wustl.edu 37 16 15696479 15696480 + Frame_Shift_Del DEL GA GA - TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 16 15696479 15696480 GA - DEL KIAA0430 ENST00000344181 human ensembl 69_37n -1 known frame_shift_del c.3340_3339 p.P1114fs 0.000:0.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 10 0 0.00 9 5 31.25 - - - LINGO2 0 genome.wustl.edu 37 9 28295319 28295319 + RNA SNP C C T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 9 28295319 28295319 C T SNP LINGO2 ENST00000493941 human ensembl 69_37n -1 known rna NULL NULL 0.691 - - - no_errors LINGO2 HGNC ENSG00000174482 62 0 0.00 28 18 39.13 - - - NPLOC4 0 genome.wustl.edu 37 17 79534473 79534473 + Missense_Mutation SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 17 79534473 79534473 G T SNP NPLOC4 ENST00000374747 human ensembl 69_37n -1 known missense c.1536 p.F512L 0.764 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 40 0 0.00 26 15 36.59 - - - OR14I1 0 genome.wustl.edu 37 1 248845530 248845530 + Missense_Mutation SNP C C T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 1 248845530 248845530 C T SNP OR14I1 ENST00000342623 human ensembl 69_37n -1 known missense c.76 p.A26T 0.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 31 0 0.00 64 20 23.81 - - - PARP1 0 genome.wustl.edu 37 1 226549141 226549141 + RNA SNP G G A TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 1 226549141 226549141 G A SNP PARP1 ENST00000463968 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors PARP1 HGNC ENSG00000143799 37 0 0.00 25 38 59.38 - - - RBMXL3 0 genome.wustl.edu 37 X 114425058 114425058 + Missense_Mutation SNP G G A TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 X 114425058 114425058 G A SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known missense c.1054 p.V352I 0.840 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 91 0 0.00 58 33 36.26 - - - SH2D3A 0 genome.wustl.edu 37 19 6755277 6755277 + Silent SNP C C T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 19 6755277 6755277 C T SNP SH2D3A ENST00000245908 human ensembl 69_37n -1 known silent c.546 p.P182 0.020 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 82 0 0.00 39 32 45.07 - - - SLC18B1 0 genome.wustl.edu 37 6 133118190 133118191 + Frame_Shift_Ins INS - - A TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 6 133118190 133118191 - A INS SLC18B1 ENST00000275227 human ensembl 69_37n -1 known frame_shift_ins c.114_113 p.S39fs 0.995:0.997 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC ENSG00000146409 38 0 0.00 21 19 47.50 - - - SMCR8 0 genome.wustl.edu 37 17 18220650 18220650 + Missense_Mutation SNP G G C TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 17 18220650 18220650 G C SNP SMCR8 ENST00000406438 human ensembl 69_37n +1 known missense c.1547 p.S516T 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 38 0 0.00 34 14 29.17 - - - TMEM41B 0 genome.wustl.edu 37 11 9310063 9310063 + Missense_Mutation SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 11 9310063 9310063 G T SNP TMEM41B ENST00000299596 human ensembl 69_37n -1 known missense c.388 p.P130T 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 25 0 0.00 31 4 11.43 - - - TSPAN7 0 genome.wustl.edu 37 X 38482195 38482195 + Missense_Mutation SNP C C T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 X 38482195 38482195 C T SNP TSPAN7 ENST00000475216 human ensembl 69_37n +1 known missense c.121 p.H41Y 0.037 NULL NULL - no_errors TSPAN7 HGNC ENSG00000156298 34 0 0.00 34 4 10.53 - - - UBE2A 0 genome.wustl.edu 37 X 118717178 118717178 + Missense_Mutation SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 X 118717178 118717178 G T SNP UBE2A ENST00000371558 human ensembl 69_37n +1 known missense c.419 p.R140L 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2A HGNC ENSG00000077721 67 0 0.00 30 35 53.85 - - - ZFP36L1 0 genome.wustl.edu 37 14 69256924 69256925 + Frame_Shift_Ins INS - - GC TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 468cd8a6-60b1-465a-b44f-1e3515166a34 b9a3f99c-a15f-4552-aa83-d22cbbd3c921 14 69256924 69256925 - GC INS ZFP36L1 ENST00000336440 human ensembl 69_37n -1 known frame_shift_ins c.343_342 p.Y114fs 1.000:1.000 smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 121 0 0.00 21 45 68.18 - - -