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 ARHGEF9 0 genome.wustl.edu 37 X 62894024 62894024 + Missense_Mutation SNP G G A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda X 62894024 62894024 G A SNP ARHGEF9 ENST00000253401 human ensembl 69_37n -1 known missense c.818 p.A273V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 31 0 0.00 35 24 40.68 - - - BCOR 0 genome.wustl.edu 37 X 39937175 39937175 + Nonsense_Mutation SNP G G C TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda X 39937175 39937175 G C SNP BCOR ENST00000378444 human ensembl 69_37n -1 known nonsense c.8 p.S3* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 35 0 0.00 21 13 38.24 - - - CACNA1H 0 genome.wustl.edu 37 16 1251677 1251677 + Missense_Mutation SNP C C A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 16 1251677 1251677 C A SNP CACNA1H ENST00000348261 human ensembl 69_37n +1 known missense c.1227 p.F409L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 25 0 0.00 35 4 10.26 - - - CKS1B 0 genome.wustl.edu 37 1 154950513 154950513 + Missense_Mutation SNP T T G TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 1 154950513 154950513 T G SNP CKS1B ENST00000308987 human ensembl 69_37n +1 known missense c.110 p.L37R 1.000 pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub - no_errors CKS1B HGNC ENSG00000173207 118 0 0.00 170 32 15.84 - - - COG3 0 genome.wustl.edu 37 13 46065553 46065553 + Silent SNP A A G TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 13 46065553 46065553 A G SNP COG3 ENST00000349995 human ensembl 69_37n +1 known silent c.975 p.Q325 0.888 NULL pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 88 0 0.00 46 22 32.35 - - - CUBN 0 genome.wustl.edu 37 10 16960643 16960643 + Silent SNP T T C TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 10 16960643 16960643 T C SNP CUBN ENST00000377833 human ensembl 69_37n -1 known silent c.6978 p.G2326 0.842 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 32 0 0.00 28 20 41.67 - - - CXorf40B 0 genome.wustl.edu 37 X 149100974 149100974 + Missense_Mutation SNP T T A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda X 149100974 149100974 T A SNP CXorf40B ENST00000355203 human ensembl 69_37n -1 known missense c.265 p.I89F 0.990 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40B HGNC ENSG00000197021 62 0 0.00 46 16 25.81 - - - DYTN 0 genome.wustl.edu 37 2 207530593 207530593 + Splice_Site SNP C C A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 2 207530593 207530593 C A SNP DYTN ENST00000452335 human ensembl 69_37n -1 known splice_site c.1140+1 e10+1 1.000 - - - no_errors DYTN HGNC ENSG00000232125 77 0 0.00 91 20 18.02 - - - EFNA1 0 genome.wustl.edu 37 1 155103837 155103837 + Missense_Mutation SNP A A G TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 1 155103837 155103837 A G SNP EFNA1 ENST00000368407 human ensembl 69_37n +1 known missense c.115 p.I39V 0.843 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA1 HGNC ENSG00000169242 27 0 0.00 39 6 13.33 - - - F13A1 0 genome.wustl.edu 37 6 6182294 6182294 + Silent SNP C C A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 6 6182294 6182294 C A SNP F13A1 ENST00000264870 human ensembl 69_37n -1 known silent c.1386 p.G462 0.998 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 45 0 0.00 51 24 32.00 - - - FGD6 0 genome.wustl.edu 37 12 95602823 95602823 + Missense_Mutation SNP G G A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 12 95602823 95602823 G A SNP FGD6 ENST00000343958 human ensembl 69_37n -1 known missense c.2237 p.P746L 0.981 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 32 0 0.00 25 9 26.47 - - - FLNC 0 genome.wustl.edu 37 7 128495365 128495365 + Silent SNP C C T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 7 128495365 128495365 C T SNP FLNC ENST00000325888 human ensembl 69_37n +1 known silent c.7248 p.L2416 0.998 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 24 0 0.00 25 6 19.35 - - - FRMD3 0 genome.wustl.edu 37 9 85881994 85881994 + Missense_Mutation SNP G G C TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 9 85881994 85881994 G C SNP FRMD3 ENST00000328788 human ensembl 69_37n -1 known missense c.99 p.N33K 1.000 NULL NULL - no_errors FRMD3 HGNC ENSG00000172159 50 0 0.00 64 14 17.95 - - - GABRG1 0 genome.wustl.edu 37 4 46066490 46066490 + Missense_Mutation SNP T T C TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 4 46066490 46066490 T C SNP GABRG1 ENST00000295452 human ensembl 69_37n -1 known missense c.593 p.D198G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 61 0 0.00 42 8 15.69 - - - HOMER2 0 genome.wustl.edu 37 15 83561570 83561570 + Missense_Mutation SNP C C T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 15 83561570 83561570 C T SNP HOMER2 ENST00000304231 human ensembl 69_37n -1 known missense c.29 p.R10Q 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER2 HGNC ENSG00000103942 57 0 0.00 38 6 13.64 - - - HRH2 0 genome.wustl.edu 37 5 175111006 175111006 + Missense_Mutation SNP G G A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 5 175111006 175111006 G A SNP HRH2 ENST00000377291 human ensembl 69_37n +1 known missense c.770 p.R257H 0.890 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,prints_7TM_GPCR_Rhodpsn,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors HRH2 HGNC ENSG00000113749 22 0 0.00 23 12 34.29 - - - IGSF1 0 genome.wustl.edu 37 X 130409566 130409566 + Missense_Mutation SNP G G T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda X 130409566 130409566 G T SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known missense c.3085 p.P1029T 0.081 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 71 0 0.00 50 24 32.43 - - - KITLG 0 genome.wustl.edu 37 12 88928486 88928486 + Silent SNP C C T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 12 88928486 88928486 C T SNP KITLG ENST00000378535 human ensembl 69_37n -1 putative silent c.6 p.P2 0.002 superfamily_4_helix_cytokine-like_core pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 58 0 0.00 36 27 42.86 - - - KPNA7 0 genome.wustl.edu 37 7 98792809 98792809 + Missense_Mutation SNP G G A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 7 98792809 98792809 G A SNP KPNA7 ENST00000327442 human ensembl 69_37n -1 known missense c.437 p.S146L 0.308 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA7 HGNC ENSG00000185467 25 0 0.00 22 12 35.29 - - - MCC 0 genome.wustl.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 5 112824048 112824049 - GCC INS MCC ENST00000408903 human ensembl 69_37n -1 putative in_frame_ins c.64_63 p.21in_frame_insG 0.854:0.894 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MCC HGNC ENSG00000171444 9 0 0.00 5 2 28.57 - - - MDN1 0 genome.wustl.edu 37 6 90388353 90388353 + Missense_Mutation SNP G G T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 6 90388353 90388353 G T SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.12377 p.A4126D 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 52 0 0.00 48 7 12.73 - - - MYLK4 0 genome.wustl.edu 37 6 2685633 2685633 + Missense_Mutation SNP C C T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 6 2685633 2685633 C T SNP MYLK4 ENST00000268446 human ensembl 69_37n -1 known missense c.442 p.V148M 1.000 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 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 MYLK4 HGNC ENSG00000145949 40 0 0.00 49 11 18.33 - - - NKX2-2 0 genome.wustl.edu 37 20 21492969 21492969 + Silent SNP C C T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 20 21492969 21492969 C T SNP NKX2-2 ENST00000377142 human ensembl 69_37n -1 known silent c.414 p.A138 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 87 0 0.00 76 9 10.59 - - - NMT1 0 genome.wustl.edu 37 17 43138787 43138787 + Nonsense_Mutation SNP C C A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 17 43138787 43138787 C A SNP NMT1 ENST00000258960 human ensembl 69_37n +1 known nonsense c.90 p.C30* 1.000 pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 42 0 0.00 12 10 45.45 - - - OR10G2 0 genome.wustl.edu 37 14 22102916 22102916 + Missense_Mutation SNP C C G TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 14 22102916 22102916 C G SNP OR10G2 ENST00000542433 human ensembl 69_37n -1 known missense c.83 p.R28T 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 17 0 0.00 10 5 33.33 - - - ORC5 0 genome.wustl.edu 37 7 103801544 103801544 + Silent SNP A A G TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 7 103801544 103801544 A G SNP ORC5 ENST00000297431 human ensembl 69_37n -1 known silent c.1125 p.A375 1.000 NULL NULL - no_errors ORC5 HGNC ENSG00000164815 47 0 0.00 43 16 27.12 - - - OTX2 0 genome.wustl.edu 37 14 57270978 57270978 + Silent SNP C C T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 14 57270978 57270978 C T SNP OTX2 ENST00000339475 human ensembl 69_37n -1 known silent c.201 p.K67 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Otx2_TF,prints_Otx_TF,pfscan_Homeodomain - no_errors OTX2 HGNC ENSG00000165588 18 0 0.00 22 6 21.43 - - - PGBD3 0 genome.wustl.edu 37 10 50724809 50724809 + Missense_Mutation SNP C C T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 10 50724809 50724809 C T SNP PGBD3 ENST00000374127 human ensembl 69_37n -1 known missense c.352 p.D118N 0.334 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 86 0 0.00 58 63 52.07 - - - PLA2R1 0 genome.wustl.edu 37 2 160901625 160901625 + Nonsense_Mutation SNP G G T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 2 160901625 160901625 G T SNP PLA2R1 ENST00000283243 human ensembl 69_37n -1 known nonsense c.153 p.C51* 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 28 0 0.00 22 4 15.38 - - - PPP6R2 0 genome.wustl.edu 37 22 50879477 50879477 + RNA SNP C C G TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 22 50879477 50879477 C G SNP PPP6R2 ENST00000473283 human ensembl 69_37n +1 putative rna NULL NULL 0.012 - - - no_errors PPP6R2 HGNC ENSG00000100239 32 0 0.00 24 6 20.00 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda Y 10037863 10037863 C - DEL RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 41 0 0.00 22 3 11.11 - - - RRBP1 0 genome.wustl.edu 37 20 17594817 17594817 + RNA SNP A A G TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 20 17594817 17594817 A G SNP RRBP1 ENST00000468428 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RRBP1 HGNC ENSG00000125844 19 0 0.00 13 8 38.10 - - - RYR1 0 genome.wustl.edu 37 19 38954140 38954140 + Silent SNP C C T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 19 38954140 38954140 C T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known silent c.2655 p.R885 0.986 pfam_Ryanodine_rcpt,prints_Ryan_recept pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 56 0 0.00 41 21 33.87 - - - SEPT5 0 genome.wustl.edu 37 22 19708174 19708174 + Missense_Mutation SNP G G A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 22 19708174 19708174 G A SNP SEPT5 ENST00000413258 human ensembl 69_37n +1 novel missense c.196 p.E66K 1.000 pfam_Cell_div_GTP-bd pfam_Cell_div_GTP-bd - no_start_codon:pseudogene:no_stop_codon SEPT5 HGNC ENSG00000184702 38 0 0.00 38 24 38.71 - - - SOX4 0 genome.wustl.edu 37 6 21594936 21594936 + Silent SNP G G T TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 6 21594936 21594936 G T SNP SOX4 ENST00000244745 human ensembl 69_37n +1 known silent c.171 p.G57 1.000 superfamily_HMG_superfamily,pirsf_SOX-12/11/4a pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX4 HGNC ENSG00000124766 15 0 0.00 26 6 18.75 - - - TP53 0 genome.wustl.edu 37 17 7577525 7577526 + Frame_Shift_Ins INS - - A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 17 7577525 7577526 - A INS TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_ins c.756_755 p.T253fs 1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 48 0 0.00 28 15 34.88 - - - VGLL4 0 genome.wustl.edu 37 3 11600885 11600885 + Missense_Mutation SNP G G C TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 3 11600885 11600885 G C SNP VGLL4 ENST00000430365 human ensembl 69_37n -1 known missense c.540 p.N180K 1.000 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 75 0 0.00 44 9 16.98 - - - ZNF295 0 genome.wustl.edu 37 21 43413758 43413758 + Silent SNP G G A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 21 43413758 43413758 G A SNP ZNF295 ENST00000310826 human ensembl 69_37n -1 known silent c.447 p.V149 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ENSG00000173276 55 0 0.00 48 24 33.33 - - - ZSWIM3 0 genome.wustl.edu 37 20 44506183 44506183 + Missense_Mutation SNP G G A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61f61966-d139-4a02-9c5c-5598d5322407 d061e421-1f2b-4e80-8765-38016a91cbda 20 44506183 44506183 G A SNP ZSWIM3 ENST00000255152 human ensembl 69_37n +1 known missense c.986 p.R329K 0.007 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 27 0 0.00 27 12 30.00 - - -