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 ALOXE3 0 genome.wustl.edu 37 17 8011882 8011882 + Missense_Mutation SNP A A C TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 17 8011882 8011882 A C SNP ALOXE3 ENST00000318227 human ensembl 69_37n -1 known missense c.1984 p.Y662D 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 14 0 0.00 17 7 29.17 - - - AP3B1 0 genome.wustl.edu 37 5 77523987 77523987 + Missense_Mutation SNP G G C TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 5 77523987 77523987 G C SNP AP3B1 ENST00000255194 human ensembl 69_37n -1 known missense c.356 p.T119S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu - no_errors AP3B1 HGNC ENSG00000132842 68 0 0.00 33 37 52.86 - - - ATP11C 0 genome.wustl.edu 37 X 138845570 138845570 + Missense_Mutation SNP C C A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 X 138845570 138845570 C A SNP ATP11C ENST00000327569 human ensembl 69_37n -1 known missense c.2408 p.R803I 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11C HGNC ENSG00000101974 132 0 0.00 71 54 43.20 - - - BHMT 0 genome.wustl.edu 37 5 78415130 78415130 + Missense_Mutation SNP A A C TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 5 78415130 78415130 A C SNP BHMT ENST00000274353 human ensembl 69_37n +1 known missense c.215 p.Q72P 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 34 0 0.00 42 5 10.64 - - - CENPL 0 genome.wustl.edu 37 1 173780350 173780350 + Nonsense_Mutation SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 1 173780350 173780350 G A SNP CENPL ENST00000356198 human ensembl 69_37n -1 known nonsense c.88 p.R30* 0.973 NULL NULL - no_errors CENPL HGNC ENSG00000120334 55 0 0.00 47 19 28.79 - - - CROCCP2 0 genome.wustl.edu 37 1 16952920 16952920 + RNA SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 1 16952920 16952920 G A SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 10 0 0.00 17 4 19.05 - - - DENND2C 0 genome.wustl.edu 37 1 115168327 115168327 + Silent SNP A A G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 1 115168327 115168327 A G SNP DENND2C ENST00000393274 human ensembl 69_37n -1 known silent c.279 p.S93 0.805 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 147 0 0.00 141 17 10.76 - - - DENND4B 0 genome.wustl.edu 37 1 153912954 153912954 + Silent SNP C C T TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 1 153912954 153912954 C T SNP DENND4B ENST00000361217 human ensembl 69_37n -1 known silent c.1455 p.P485 0.008 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 15 0 0.00 17 15 46.88 - - - FAT1 0 genome.wustl.edu 37 4 187539727 187539727 + Missense_Mutation SNP G G T TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 4 187539727 187539727 G T SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.8013 p.F2671L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 32 0 0.00 29 29 50.00 - - - FERMT2 0 genome.wustl.edu 37 14 53326539 53326539 + RNA DEL T T - TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 14 53326539 53326539 T - DEL FERMT2 ENST00000557255 human ensembl 69_37n -1 known rna NULL NULL 0.120 - - - no_errors FERMT2 HGNC ENSG00000073712 23 0 0.00 34 4 10.26 - - - HSD17B7P2 0 genome.wustl.edu 37 10 38645343 38645343 + RNA SNP C C T TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 10 38645343 38645343 C T SNP HSD17B7P2 ENST00000494540 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 31 0 0.00 40 5 11.11 - - - KCND3 0 genome.wustl.edu 37 1 112525097 112525097 + Silent SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 1 112525097 112525097 G A SNP KCND3 ENST00000315987 human ensembl 69_37n -1 known silent c.252 p.F84 0.747 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 11 0 0.00 4 7 63.64 - - - KHSRP 0 genome.wustl.edu 37 19 6416411 6416411 + Missense_Mutation SNP A A G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 19 6416411 6416411 A G SNP KHSRP ENST00000398148 human ensembl 69_37n -1 known missense c.1496 p.L499P 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 9 0 0.00 3 5 62.50 - - - MAT2A 0 genome.wustl.edu 37 2 85769379 85769379 + Silent SNP A A G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 2 85769379 85769379 A G SNP MAT2A ENST00000306434 human ensembl 69_37n +1 known silent c.651 p.E217 0.975 pfam_S-AdoMet_synt_central,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC ENSG00000168906 26 0 0.00 22 19 46.34 - - - MST1 0 genome.wustl.edu 37 3 49722303 49722303 + Missense_Mutation SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 3 49722303 49722303 G A SNP MST1 ENST00000449682 human ensembl 69_37n -1 known missense c.1637 p.T546M 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 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,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 17 0 0.00 19 5 20.83 - - - MYLK 0 genome.wustl.edu 37 3 123512533 123512533 + Silent SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 3 123512533 123512533 G A SNP MYLK ENST00000360304 human ensembl 69_37n -1 known silent c.156 p.F52 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 13 0 0.00 19 9 32.14 - - - MYT1L 0 genome.wustl.edu 37 2 2001120 2001120 + Splice_Site SNP C C T TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 2 2001120 2001120 C T SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known splice_site c.1-1 e1-1 1.000 - - - no_errors MYT1L HGNC ENSG00000186487 20 0 0.00 19 14 42.42 - - - NAPA 0 genome.wustl.edu 37 19 47994082 47994082 + Missense_Mutation SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 19 47994082 47994082 G A SNP NAPA ENST00000263354 human ensembl 69_37n -1 known missense c.698 p.P233L 1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPA HGNC ENSG00000105402 19 0 0.00 9 19 67.86 - - - NEMF 0 genome.wustl.edu 37 14 50267209 50267209 + Missense_Mutation SNP C C A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 14 50267209 50267209 C A SNP NEMF ENST00000298310 human ensembl 69_37n -1 known missense c.2301 p.M767I 0.358 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 162 0 0.00 114 94 45.19 - - - NHLRC3 0 genome.wustl.edu 37 13 39616426 39616426 + Silent SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 13 39616426 39616426 G A SNP NHLRC3 ENST00000379600 human ensembl 69_37n +1 known silent c.570 p.L190 0.994 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 190 1 0.52 24 85 77.98 - - - NRXN3 0 genome.wustl.edu 37 14 80328256 80328256 + Silent SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 14 80328256 80328256 G A SNP NRXN3 ENST00000335750 human ensembl 69_37n +1 known silent c.3135 p.S1045 0.092 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 28 0 0.00 12 13 52.00 - - - PADI4 0 genome.wustl.edu 37 1 17668504 17668504 + Missense_Mutation SNP T T C TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 1 17668504 17668504 T C SNP PADI4 ENST00000375448 human ensembl 69_37n +1 known missense c.719 p.V240A 0.001 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 15 0 0.00 5 7 58.33 - - - PHF20L1 0 genome.wustl.edu 37 8 133829783 133829784 + Frame_Shift_Ins INS - - G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 8 133829783 133829784 - G INS PHF20L1 ENST00000315808 human ensembl 69_37n +1 known frame_shift_ins c.1572_1573 p.A524fs 0.846:0.842 NULL pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 26 0 0.00 28 9 24.32 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 49 0 0.00 35 22 38.60 - - - RGS12 0 genome.wustl.edu 37 4 3318059 3318059 + Missense_Mutation SNP T T G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 4 3318059 3318059 T G SNP RGS12 ENST00000344733 human ensembl 69_37n +1 known missense c.162 p.D54E 0.002 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS12 HGNC ENSG00000159788 11 0 0.00 9 18 66.67 - - - RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 69_37n -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 34 0 0.00 37 19 33.33 - - - RPS20 0 genome.wustl.edu 37 8 56985781 56985781 + Silent SNP C C G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 8 56985781 56985781 C G SNP RPS20 ENST00000009589 human ensembl 69_37n -1 known silent c.228 p.T76 0.579 pfam_Ribosomal_S10,superfamily_Ribosomal_S10,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc pfam_Ribosomal_S10,superfamily_Ribosomal_S10,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc - no_errors RPS20 HGNC ENSG00000008988 96 0 0.00 47 61 55.96 - - - SATB1 0 genome.wustl.edu 37 3 18390811 18390811 + Missense_Mutation SNP C C T TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 3 18390811 18390811 C T SNP SATB1 ENST00000338745 human ensembl 69_37n -1 known missense c.2143 p.D715N 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 77 0 0.00 79 13 14.13 - - - SLC13A5 0 genome.wustl.edu 37 17 6590917 6590918 + Frame_Shift_Ins INS - - A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 17 6590917 6590918 - A INS SLC13A5 ENST00000433363 human ensembl 69_37n -1 known frame_shift_ins c.1506_1505 p.M503fs 1.000:1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 24 0 0.00 21 21 50.00 - - - SMOC2 0 genome.wustl.edu 37 6 169053691 169053691 + Missense_Mutation SNP C C A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 6 169053691 169053691 C A SNP SMOC2 ENST00000354536 human ensembl 69_37n +1 known missense c.1101 p.F367L 1.000 pfam_SPARC/Testican_Ca-bd-dom,pfscan_EF_HAND_2 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 47 0 0.00 43 8 15.69 - - - SPP2 0 genome.wustl.edu 37 2 234959682 234959682 + Silent SNP G G T TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 2 234959682 234959682 G T SNP SPP2 ENST00000168148 human ensembl 69_37n +1 known silent c.153 p.V51 0.995 pfam_Prot_inh_cystat pfam_Spp-24,pfam_Prot_inh_cystat - no_errors SPP2 HGNC ENSG00000072080 44 0 0.00 33 30 47.62 - - - SYVN1 0 genome.wustl.edu 37 11 64897543 64897543 + Missense_Mutation SNP C C G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 11 64897543 64897543 C G SNP SYVN1 ENST00000377190 human ensembl 69_37n -1 known missense c.1339 p.E447Q 0.043 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 10 0 0.00 8 9 50.00 - - - TAS2R16 0 genome.wustl.edu 37 7 122635425 122635425 + Frame_Shift_Del DEL A A - TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 7 122635425 122635425 A - DEL TAS2R16 ENST00000249284 human ensembl 69_37n -1 known frame_shift_del c.264 p.F88fs 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 76 0 0.00 55 30 35.29 - - - TTN 0 genome.wustl.edu 37 2 179427225 179427225 + Silent SNP A A G TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 2 179427225 179427225 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.75930 p.N25310 0.981 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 66 0 0.00 47 43 47.78 - - - VWA5B2 0 genome.wustl.edu 37 3 183956482 183956482 + Missense_Mutation SNP G G A TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 3 183956482 183956482 G A SNP VWA5B2 ENST00000426955 human ensembl 69_37n +1 known missense c.2023 p.E675K 0.998 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 11 0 0.00 11 9 45.00 - - - XPO7 0 genome.wustl.edu 37 8 21844661 21844661 + Missense_Mutation SNP G G T TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da42f10b-d515-4678-a038-ed9c92a8b56b 3ff1b637-7389-4e74-9e63-01642df895f4 8 21844661 21844661 G T SNP XPO7 ENST00000434536 human ensembl 69_37n +1 known missense c.1614 p.Q538H 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 37 0 0.00 4 18 81.82 - - -