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 ABHD2 0 genome.wustl.edu 37 15 89731451 89731451 + Missense_Mutation SNP G G C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 15 89731451 89731451 G C SNP ABHD2 ENST00000352732 human ensembl 69_37n +1 known missense c.843 p.K281N 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 38 0 0.00 24 4 14.29 - - - CPNE8 0 genome.wustl.edu 37 12 39170041 39170041 + Missense_Mutation SNP C C G TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 12 39170041 39170041 C G SNP CPNE8 ENST00000331366 human ensembl 69_37n -1 known missense c.470 p.R157T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 106 0 0.00 57 7 10.94 - - - CRBN 0 genome.wustl.edu 37 3 3192638 3192638 + Missense_Mutation SNP A A G TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 3 3192638 3192638 A G SNP CRBN ENST00000231948 human ensembl 69_37n -1 known missense c.1240 p.F414L 1.000 NULL pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 75 0 0.00 46 7 13.21 - - - CTTNBP2 0 genome.wustl.edu 37 7 117501284 117501284 + Missense_Mutation SNP G G T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 7 117501284 117501284 G T SNP CTTNBP2 ENST00000160373 human ensembl 69_37n -1 known missense c.168 p.D56E 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 32 0 0.00 15 4 21.05 - - - CYP4A11 0 genome.wustl.edu 37 1 47402424 47402424 + Missense_Mutation SNP T T C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 1 47402424 47402424 T C SNP CYP4A11 ENST00000371904 human ensembl 69_37n -1 known missense c.422 p.Q141R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 57 0 0.00 33 4 10.81 - - - DDX11 0 genome.wustl.edu 37 12 31249874 31249874 + Missense_Mutation SNP C C A TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 12 31249874 31249874 C A SNP DDX11 ENST00000407793 human ensembl 69_37n +1 known missense c.1712 p.A571E 0.008 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 100 0 0.00 51 9 15.00 - - - ENSG00000255185 0 genome.wustl.edu 37 16 70070460 70070460 + RNA SNP T T A TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 16 70070460 70070460 T A SNP ENSG00000255185 ENST00000527016 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RP11-106J23.2 Clone_based_vega_gene ENSG00000255185 103 0 0.00 68 9 11.69 - - - FAAH 0 genome.wustl.edu 37 1 46874204 46874204 + Missense_Mutation SNP T T C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 1 46874204 46874204 T C SNP FAAH ENST00000243167 human ensembl 69_37n +1 known missense c.1025 p.M342T 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 71 0 0.00 45 5 10.00 - - - FAT1 0 genome.wustl.edu 37 4 187541716 187541716 + Missense_Mutation SNP G G C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 4 187541716 187541716 G C SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.6024 p.I2008M 0.998 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 35 0 0.00 27 6 17.65 - - - FREM2 0 genome.wustl.edu 37 13 39263585 39263585 + Missense_Mutation SNP G G C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 13 39263585 39263585 G C SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.2104 p.E702Q 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 86 0 0.00 44 10 18.52 - - - GLB1 0 genome.wustl.edu 37 3 33099722 33099722 + Missense_Mutation SNP C C G TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 3 33099722 33099722 C G SNP GLB1 ENST00000445488 human ensembl 69_37n -1 known missense c.736 p.D246H 0.012 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 24 0 0.00 23 7 23.33 - - - HCFC1 0 genome.wustl.edu 37 X 153220381 153220381 + Missense_Mutation SNP C C G TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 X 153220381 153220381 C G SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.3469 p.E1157Q 0.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 64 0 0.00 61 9 12.86 - - - HPCAL4 0 genome.wustl.edu 37 1 40149691 40149691 + Missense_Mutation SNP T T C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 1 40149691 40149691 T C SNP HPCAL4 ENST00000372844 human ensembl 69_37n -1 known missense c.296 p.Q99R 1.000 pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 76 0 0.00 29 4 12.12 - - - LAIR2 0 genome.wustl.edu 37 19 55020268 55020268 + Missense_Mutation SNP C C A TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 19 55020268 55020268 C A SNP LAIR2 ENST00000301202 human ensembl 69_37n +1 known missense c.388 p.P130T 0.001 NULL smart_Ig_sub - no_errors LAIR2 HGNC ENSG00000167618 62 0 0.00 41 5 10.87 - - - LARP4B 0 genome.wustl.edu 37 10 931654 931654 + Missense_Mutation SNP G G T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 10 931654 931654 G T SNP LARP4B ENST00000316157 human ensembl 69_37n -1 known missense c.8 p.S3Y 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 51 0 0.00 18 3 14.29 - - - MAGEB10 0 genome.wustl.edu 37 X 27840129 27840129 + Missense_Mutation SNP A A G TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 X 27840129 27840129 A G SNP MAGEB10 ENST00000356790 human ensembl 69_37n +1 known missense c.706 p.I236V 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 27 0 0.00 15 3 16.67 - - - MCM3AP-AS1 0 genome.wustl.edu 37 21 47662235 47662235 + RNA DEL T T - TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 21 47662235 47662235 T - DEL MCM3AP-AS1 ENST00000421927 human ensembl 69_37n +1 known rna NULL NULL 0.165 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 34 0 0.00 21 6 20.69 - - - MYO10 0 genome.wustl.edu 37 5 16680162 16680162 + Missense_Mutation SNP G G T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 5 16680162 16680162 G T SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known missense c.4436 p.T1479N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 80 0 0.00 60 9 13.04 - - - NTMT1 0 genome.wustl.edu 37 9 132397566 132397566 + Nonsense_Mutation SNP C C G TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 9 132397566 132397566 C G SNP NTMT1 ENST00000372481 human ensembl 69_37n +1 known nonsense c.410 p.S137* 1.000 NULL pfam_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 44 0 0.00 27 5 15.62 - - - NUPL2 0 genome.wustl.edu 37 7 23239802 23239802 + Missense_Mutation SNP A A C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 7 23239802 23239802 A C SNP NUPL2 ENST00000258742 human ensembl 69_37n +1 known missense c.710 p.N237T 0.000 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 31 0 0.00 18 5 21.74 - - - OR10C1 0 genome.wustl.edu 37 6 29407976 29407976 + Silent SNP C C T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 6 29407976 29407976 C T SNP OR10C1 ENST00000444197 human ensembl 69_37n +1 known silent c.184 p.L62 0.996 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10C1 HGNC ENSG00000206474 38 0 0.00 46 12 20.69 - - - PCSK4 0 genome.wustl.edu 37 19 1482188 1482188 + Frame_Shift_Del DEL T T - TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 19 1482188 1482188 T - DEL PCSK4 ENST00000300954 human ensembl 69_37n -1 known frame_shift_del c.1838 p.Y613fs 0.271 superfamily_Growth_fac_rcpt pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 8 0 0.00 4 2 33.33 - - - PHPT1 0 genome.wustl.edu 37 9 139745248 139745248 + Silent SNP C C T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 9 139745248 139745248 C T SNP PHPT1 ENST00000247665 human ensembl 69_37n +1 known silent c.327 p.I109 1.000 pfam_Ocnus pfam_Ocnus - no_errors PHPT1 HGNC ENSG00000054148 96 0 0.00 52 6 10.34 - - - PKD1 0 genome.wustl.edu 37 16 2149969 2149969 + Missense_Mutation SNP A A C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 16 2149969 2149969 A C SNP PKD1 ENST00000567946 human ensembl 69_37n -1 novel missense c.1418 p.V473G 0.903 NULL pfam_LipOase_LH2,pfam_GPS_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PKD1 HGNC ENSG00000008710 147 0 0.00 111 20 15.27 - - - PKLR 0 genome.wustl.edu 37 1 155265234 155265234 + Silent SNP C C T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 1 155265234 155265234 C T SNP PKLR ENST00000342741 human ensembl 69_37n -1 known silent c.501 p.L167 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 75 0 0.00 49 8 14.04 - - - PLXNB3 0 genome.wustl.edu 37 X 153031697 153031697 + Missense_Mutation SNP G G C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 X 153031697 153031697 G C SNP PLXNB3 ENST00000538966 human ensembl 69_37n +1 known missense c.32 p.C11S 0.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 129 0 0.00 57 9 13.64 - - - RBBP4 0 genome.wustl.edu 37 1 33123070 33123070 + Silent SNP G G T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 1 33123070 33123070 G T SNP RBBP4 ENST00000373493 human ensembl 69_37n +1 known silent c.207 p.G69 0.921 pfam_Histone-bd_RBBP4 pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 45 0 0.00 38 7 15.56 - - - RNF6 0 genome.wustl.edu 37 13 26788508 26788508 + Nonsense_Mutation SNP G G C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 13 26788508 26788508 G C SNP RNF6 ENST00000346166 human ensembl 69_37n -1 known nonsense c.1511 p.S504* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 50 0 0.00 39 5 11.36 - - - S100A3 0 genome.wustl.edu 37 1 153520190 153520190 + Missense_Mutation SNP C C T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 1 153520190 153520190 C T SNP S100A3 ENST00000368712 human ensembl 69_37n -1 known missense c.274 p.D92N 0.971 NULL pfam_S100_Ca-bd_sub - no_errors S100A3 HGNC ENSG00000188015 75 0 0.00 36 10 21.74 - - - SARDH 0 genome.wustl.edu 37 9 136535741 136535741 + Silent SNP G G A TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 9 136535741 136535741 G A SNP SARDH ENST00000371872 human ensembl 69_37n -1 known silent c.2460 p.G820 0.999 pfam_GCV_T_C pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 69 0 0.00 40 10 20.00 - - - SGOL2 0 genome.wustl.edu 37 2 201438212 201438212 + Missense_Mutation SNP C C A TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 2 201438212 201438212 C A SNP SGOL2 ENST00000357799 human ensembl 69_37n +1 known missense c.3143 p.T1048N 0.022 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 19 0 0.00 15 4 21.05 - - - SGPL1 0 genome.wustl.edu 37 10 72604367 72604367 + Missense_Mutation SNP G G T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 10 72604367 72604367 G T SNP SGPL1 ENST00000373202 human ensembl 69_37n +1 known missense c.165 p.W55C 0.997 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 71 0 0.00 36 4 10.00 - - - SIX6 0 genome.wustl.edu 37 14 60976445 60976445 + Missense_Mutation SNP T T G TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 14 60976445 60976445 T G SNP SIX6 ENST00000327720 human ensembl 69_37n +1 known missense c.329 p.V110G 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX6 HGNC ENSG00000184302 49 0 0.00 27 5 15.62 - - - SRPK1 0 genome.wustl.edu 37 6 35806552 35806552 + Missense_Mutation SNP G G T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 6 35806552 35806552 G T SNP SRPK1 ENST00000373822 human ensembl 69_37n -1 known missense c.1390 p.L464M 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_cat_dom - no_errors SRPK1 HGNC ENSG00000096063 33 0 0.00 34 4 10.53 - - - TMEM63A 0 genome.wustl.edu 37 1 226040471 226040471 + Splice_Site SNP C C T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 1 226040471 226040471 C T SNP TMEM63A ENST00000366835 human ensembl 69_37n -1 known splice_site c.1798-1 e18-1 1.000 - - - no_errors TMEM63A HGNC ENSG00000196187 30 0 0.00 24 10 29.41 - - - TMPRSS15 0 genome.wustl.edu 37 21 19698835 19698835 + Missense_Mutation SNP A A C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 21 19698835 19698835 A C SNP TMPRSS15 ENST00000284885 human ensembl 69_37n -1 known missense c.1835 p.M612R 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC ENSG00000154646 85 0 0.00 48 25 33.78 - - - TP53 0 genome.wustl.edu 37 17 7578268 7578268 + Missense_Mutation SNP A A C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 17 7578268 7578268 A C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.581 p.L194R 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 51 0 0.00 34 8 19.05 - - - TTN 0 genome.wustl.edu 37 2 179410788 179410788 + Silent SNP G G A TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 2 179410788 179410788 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.87471 p.C29157 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 31 0 0.00 19 3 13.64 - - - ZNF549 0 genome.wustl.edu 37 19 58050116 58050116 + Missense_Mutation SNP G G A TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5af23455-a0dc-4c6e-8577-e90599523caa 463b9a58-79b7-4b1c-abcb-25fe9c4de4e0 19 58050116 58050116 G A SNP ZNF549 ENST00000376233 human ensembl 69_37n +1 known missense c.1744 p.E582K 0.890 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 ZNF549 HGNC ENSG00000121406 34 0 0.00 19 3 13.64 - - -