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 ANKRD34C 0 genome.wustl.edu 37 15 79585975 79585975 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 15 79585975 79585975 C T SNP ANKRD34C ENST00000421388 human ensembl 69_37n +1 known missense c.349 p.R117C 0.836 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC ENSG00000235711 52 0 0.00 37 26 41.27 - - - ANKRD34C 0 genome.wustl.edu 37 15 79585975 79585975 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 15 79585975 79585975 C T SNP ANKRD34C ENST00000421388 human ensembl 69_37n +1 known missense c.349 p.R117C 0.836 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC ENSG00000235711 59 0 0.00 37 26 41.27 - - - C12orf40 0 genome.wustl.edu 37 12 40044140 40044140 + Missense_Mutation SNP T T G TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 12 40044140 40044140 T G SNP C12orf40 ENST00000324616 human ensembl 69_37n +1 known missense c.670 p.F224V 0.346 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 359 0 0.00 146 36 19.78 - - - C12orf40 0 genome.wustl.edu 37 12 40044140 40044140 + Missense_Mutation SNP T T G TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 12 40044140 40044140 T G SNP C12orf40 ENST00000324616 human ensembl 69_37n +1 known missense c.670 p.F224V 0.346 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 265 0 0.00 146 36 19.78 - - - CACNA1B 0 genome.wustl.edu 37 9 140952286 140952286 + Silent SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 9 140952286 140952286 G A SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known silent c.4074 p.T1358 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 108 0 0.00 113 46 28.57 - - - CACNA1B 0 genome.wustl.edu 37 9 140952286 140952286 + Silent SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 9 140952286 140952286 G A SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known silent c.4074 p.T1358 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 158 0 0.00 113 46 28.57 - - - CAT 0 genome.wustl.edu 37 11 34492955 34492955 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 11 34492955 34492955 C T SNP CAT ENST00000241052 human ensembl 69_37n +1 known missense c.1559 p.A520V 0.021 NULL pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 183 0 0.00 145 70 32.56 - - - CAT 0 genome.wustl.edu 37 11 34492955 34492955 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 11 34492955 34492955 C T SNP CAT ENST00000241052 human ensembl 69_37n +1 known missense c.1559 p.A520V 0.021 NULL pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 290 0 0.00 145 70 32.56 - - - CBFB 0 genome.wustl.edu 37 16 67070600 67070601 + Frame_Shift_Del DEL GA GA - TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 16 67070600 67070601 GA - DEL CBFB ENST00000290858 human ensembl 69_37n +1 known frame_shift_del c.224_225 p.E76fs 1.000:1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 193 0 0.00 97 59 37.82 - - - CBFB 0 genome.wustl.edu 37 16 67070600 67070601 + Frame_Shift_Del DEL GA GA - TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 16 67070600 67070601 GA - DEL CBFB ENST00000290858 human ensembl 69_37n +1 known frame_shift_del c.224_225 p.E76fs 1.000:1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 258 0 0.00 97 59 37.82 - - - CCDC112 0 genome.wustl.edu 37 5 114620509 114620509 + Missense_Mutation SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 5 114620509 114620509 G A SNP CCDC112 ENST00000379611 human ensembl 69_37n -1 known missense c.214 p.R72C 0.952 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 220 0 0.00 136 57 29.53 - - - CCDC112 0 genome.wustl.edu 37 5 114620509 114620509 + Missense_Mutation SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 5 114620509 114620509 G A SNP CCDC112 ENST00000379611 human ensembl 69_37n -1 known missense c.214 p.R72C 0.952 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 240 0 0.00 136 57 29.53 - - - DBH 0 genome.wustl.edu 37 9 136508616 136508616 + Missense_Mutation SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 9 136508616 136508616 G A SNP DBH ENST00000393056 human ensembl 69_37n +1 known missense c.826 p.V276I 0.017 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 29 0 0.00 28 6 17.65 - - - DBH 0 genome.wustl.edu 37 9 136508616 136508616 + Missense_Mutation SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 9 136508616 136508616 G A SNP DBH ENST00000393056 human ensembl 69_37n +1 known missense c.826 p.V276I 0.017 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 46 0 0.00 28 6 17.65 - - - EPHA5 0 genome.wustl.edu 37 4 66201815 66201815 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 4 66201815 66201815 C T SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known missense c.2687 p.R896H 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 233 1 0.43 231 60 20.62 - - - EPHA5 0 genome.wustl.edu 37 4 66201815 66201815 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 4 66201815 66201815 C T SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known missense c.2687 p.R896H 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 281 0 0.00 231 60 20.62 - - - GABRB2 0 genome.wustl.edu 37 5 160753392 160753392 + Missense_Mutation SNP C C A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 5 160753392 160753392 C A SNP GABRB2 ENST00000274547 human ensembl 69_37n -1 known missense c.1174 p.D392Y 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 390 0 0.00 230 94 29.01 - - - GABRB2 0 genome.wustl.edu 37 5 160753392 160753392 + Missense_Mutation SNP C C A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 5 160753392 160753392 C A SNP GABRB2 ENST00000274547 human ensembl 69_37n -1 known missense c.1174 p.D392Y 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 324 0 0.00 230 94 29.01 - - - KCNQ3 0 genome.wustl.edu 37 8 133141532 133141532 + Missense_Mutation SNP T T C TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 8 133141532 133141532 T C SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known missense c.2596 p.T866A 1.000 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 43 0 0.00 84 23 20.35 - - - KCNQ3 0 genome.wustl.edu 37 8 133141532 133141532 + Missense_Mutation SNP T T C TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 8 133141532 133141532 T C SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known missense c.2596 p.T866A 1.000 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 76 0 0.00 84 23 20.35 - - - MAPKBP1 0 genome.wustl.edu 37 15 42115928 42115928 + Silent SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 15 42115928 42115928 C T SNP MAPKBP1 ENST00000456763 human ensembl 69_37n +1 known silent c.3900 p.I1300 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 139 0 0.00 119 28 19.05 - - - MST1P9 0 genome.wustl.edu 37 1 17085795 17085795 + Silent SNP G G T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 1 17085795 17085795 G T SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known silent c.1026 p.I342 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 25 0 0.00 25 6 19.35 - - - MTMR12 0 genome.wustl.edu 37 5 32233993 32233993 + Silent SNP G G C TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 5 32233993 32233993 G C SNP MTMR12 ENST00000382142 human ensembl 69_37n -1 known silent c.1560 p.T520 0.995 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 202 0 0.00 285 77 21.21 - - - MTMR12 0 genome.wustl.edu 37 5 32233993 32233993 + Silent SNP G G C TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 5 32233993 32233993 G C SNP MTMR12 ENST00000382142 human ensembl 69_37n -1 known silent c.1560 p.T520 0.995 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 315 0 0.00 285 77 21.21 - - - MUT 0 genome.wustl.edu 37 6 49416584 49416584 + Missense_Mutation SNP T T C TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 6 49416584 49416584 T C SNP MUT ENST00000274813 human ensembl 69_37n -1 known missense c.1389 p.I463M 0.991 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 328 0 0.00 209 87 29.29 - - - MUT 0 genome.wustl.edu 37 6 49416584 49416584 + Missense_Mutation SNP T T C TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 6 49416584 49416584 T C SNP MUT ENST00000274813 human ensembl 69_37n -1 known missense c.1389 p.I463M 0.991 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 440 0 0.00 209 87 29.29 - - - NACAD 0 genome.wustl.edu 37 7 45123859 45123859 + Silent SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 7 45123859 45123859 G A SNP NACAD ENST00000490531 human ensembl 69_37n -1 known silent c.1920 p.S640 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 27 0 0.00 51 14 21.54 - - - OPRD1 0 genome.wustl.edu 37 1 29189416 29189416 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 1 29189416 29189416 C T SNP OPRD1 ENST00000234961 human ensembl 69_37n +1 known missense c.740 p.S247L 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Opioid_rcpt,prints_Neuropept_W_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 35 0 0.00 68 40 37.04 - - - OPRD1 0 genome.wustl.edu 37 1 29189416 29189416 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 1 29189416 29189416 C T SNP OPRD1 ENST00000234961 human ensembl 69_37n +1 known missense c.740 p.S247L 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Opioid_rcpt,prints_Neuropept_W_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 112 0 0.00 68 40 37.04 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 316 1 0.32 180 52 22.41 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 375 0 0.00 180 52 22.41 - - - RLTPR 0 genome.wustl.edu 37 16 67685827 67685827 + Silent SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 16 67685827 67685827 C T SNP RLTPR ENST00000334583 human ensembl 69_37n +1 known silent c.2592 p.D864 0.968 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 70 0 0.00 93 66 41.51 - - - RLTPR 0 genome.wustl.edu 37 16 67685827 67685827 + Silent SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 16 67685827 67685827 C T SNP RLTPR ENST00000334583 human ensembl 69_37n +1 known silent c.2592 p.D864 0.968 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 163 0 0.00 93 66 41.51 - - - SYCP1 0 genome.wustl.edu 37 1 115454161 115454161 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 1 115454161 115454161 C T SNP SYCP1 ENST00000369518 human ensembl 69_37n +1 known missense c.1487 p.S496L 0.953 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 356 0 0.00 210 82 28.08 - - - SYCP1 0 genome.wustl.edu 37 1 115454161 115454161 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 1 115454161 115454161 C T SNP SYCP1 ENST00000369518 human ensembl 69_37n +1 known missense c.1487 p.S496L 0.953 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 370 0 0.00 210 82 28.08 - - - TLL2 0 genome.wustl.edu 37 10 98129947 98129947 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 10 98129947 98129947 C T SNP TLL2 ENST00000357947 human ensembl 69_37n -1 known missense c.2788 p.G930S 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 51 0 0.00 62 15 19.48 - - - TLL2 0 genome.wustl.edu 37 10 98129947 98129947 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 10 98129947 98129947 C T SNP TLL2 ENST00000357947 human ensembl 69_37n -1 known missense c.2788 p.G930S 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 74 0 0.00 62 15 19.48 - - - TRIM74 0 genome.wustl.edu 37 7 72436307 72436307 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 7 72436307 72436307 C T SNP TRIM74 ENST00000285805 human ensembl 69_37n -1 known missense c.382 p.V128I 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM74 HGNC ENSG00000155428 10 0 0.00 19 8 29.63 - - - TRMT5 0 genome.wustl.edu 37 14 61444282 61444282 + Nonsense_Mutation SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 14 61444282 61444282 G A SNP TRMT5 ENST00000261249 human ensembl 69_37n -1 known nonsense c.742 p.R248* 1.000 pfam_tRNA_Trfase_Trm5/Tyw2 pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 301 2 0.66 235 85 26.56 - - - TRMT5 0 genome.wustl.edu 37 14 61444282 61444282 + Nonsense_Mutation SNP G G A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 14 61444282 61444282 G A SNP TRMT5 ENST00000261249 human ensembl 69_37n -1 known nonsense c.742 p.R248* 1.000 pfam_tRNA_Trfase_Trm5/Tyw2 pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 355 0 0.00 235 85 26.56 - - - UBE3D 0 genome.wustl.edu 37 6 83667047 83667047 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce 6 83667047 83667047 C T SNP UBE3D ENST00000369747 human ensembl 69_37n -1 known missense c.1133 p.R378H 0.000 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 120 0 0.00 128 36 21.95 - - - UBE3D 0 genome.wustl.edu 37 6 83667047 83667047 + Missense_Mutation SNP C C T TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 6 83667047 83667047 C T SNP UBE3D ENST00000369747 human ensembl 69_37n -1 known missense c.1133 p.R378H 0.000 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 206 1 0.48 128 36 21.95 - - - ZNF41 0 genome.wustl.edu 37 X 47326822 47326822 + Missense_Mutation SNP C C A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 66529b84-d110-45b3-acb9-fe08f97a7cce X 47326822 47326822 C A SNP ZNF41 ENST00000397050 human ensembl 69_37n -1 known missense c.49 p.A17S 0.002 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 ZNF41 HGNC ENSG00000147124 40 0 0.00 65 18 21.69 - - - ZNF41 0 genome.wustl.edu 37 X 47326822 47326822 + Missense_Mutation SNP C C A TCGA-E2-A153-01A-12D-A12B-09 TCGA-E2-A153-11A-31D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5087c0d3-3b55-4713-a448-4869ffccdde5 527161e1-3015-4b27-9f4b-53d6d2a05079 X 47326822 47326822 C A SNP ZNF41 ENST00000397050 human ensembl 69_37n -1 known missense c.49 p.A17S 0.002 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 ZNF41 HGNC ENSG00000147124 83 0 0.00 65 18 21.69 - - -