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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABCD1 215 genome.wustl.edu 37 X 152990941 152990941 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 152990941 152990941 C T SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.220 p.R74W 0.849 pfam_ABC_Ald_N,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ADCY2 108 genome.wustl.edu 37 5 7396481 7396481 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 5 7396481 7396481 C T SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known silent c.72 p.D24 0.030 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC AFM 173 genome.wustl.edu 37 4 74354469 74354469 + Missense_Mutation SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 4 74354469 74354469 G T SNP AFM ENST00000226355 human ensembl 70_37 +1 known missense c.836 p.R279L 0.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin,prints_Alpha-fetoprotein - no_errors AFM HGNC AFMID 125061 genome.wustl.edu 37 17 76203007 76203007 + Missense_Mutation SNP A A G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 17 76203007 76203007 A G SNP AFMID ENST00000327898 human ensembl 70_37 +1 known missense c.916 p.I306V 0.984 NULL pfam_AB_hydrolase_3 - no_errors AFMID HGNC AKAP8L 26993 genome.wustl.edu 37 19 15512270 15512270 + Silent SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 15512270 15512270 G T SNP AKAP8L ENST00000397410 human ensembl 70_37 -1 known silent c.507 p.R169 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ANKRD20A4 728747 genome.wustl.edu 37 9 69416171 69416171 + Missense_Mutation SNP A A G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 9 69416171 69416171 A G SNP ANKRD20A4 ENST00000357336 human ensembl 70_37 +1 known missense c.1118 p.Q373R 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ANKRD20A5P 440482 genome.wustl.edu 37 18 14234762 14234762 + RNA SNP T T C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 18 14234762 14234762 T C SNP ANKRD20A5P ENST00000577614 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors ANKRD20A5P HGNC AP3S1 1176 genome.wustl.edu 37 5 115238600 115238600 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 5 115238600 115238600 G A SNP AP3S1 ENST00000316788 human ensembl 70_37 +1 known missense c.364 p.E122K 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120295078 120295078 + Silent SNP T T G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 11 120295078 120295078 T G SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known silent c.303 p.T101 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ASL 435 genome.wustl.edu 37 7 65546867 65546867 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 7 65546867 65546867 C T SNP ASL ENST00000304874 human ensembl 70_37 +1 known silent c.90 p.Y30 0.782 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ATP6V0D1 9114 genome.wustl.edu 37 16 67487585 67487585 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 16 67487585 67487585 C T SNP ATP6V0D1 ENST00000290949 human ensembl 70_37 -1 known missense c.164 p.G55D 1.000 pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC BICD2 23299 genome.wustl.edu 37 9 95477597 95477597 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 9 95477597 95477597 G C SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.2407 p.H803D 1.000 NULL pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC C1QC 714 genome.wustl.edu 37 1 22974214 22974214 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 22974214 22974214 G A SNP C1QC ENST00000374637 human ensembl 70_37 +1 known missense c.676 p.D226N 0.998 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC CACNA2D3 55799 genome.wustl.edu 37 3 55107570 55107570 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 3 55107570 55107570 C T SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known missense c.3086 p.P1029L 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC CARD8 22900 genome.wustl.edu 37 19 48685630 48685631 + RNA INS - - A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 48685630 48685631 - A INS CARD8 ENST00000600800 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors CARD8 HGNC CEP128 145508 genome.wustl.edu 37 14 81259223 81259223 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 14 81259223 81259223 C T SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.1441 p.D481N 1.000 NULL NULL - no_errors CEP128 HGNC CHRFAM7A 89832 genome.wustl.edu 37 15 30654961 30654961 + Silent SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 15 30654961 30654961 G A SNP CHRFAM7A ENST00000299847 human ensembl 70_37 -1 known silent c.774 p.P258 0.202 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC DHRS3 9249 genome.wustl.edu 37 1 12632817 12632817 + Nonsense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 12632817 12632817 G A SNP DHRS3 ENST00000376223 human ensembl 70_37 -1 known nonsense c.763 p.Q255* 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC DPPA3P2 400206 genome.wustl.edu 37 14 36840868 36840868 + RNA SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 14 36840868 36840868 G A SNP DPPA3P2 ENST00000557188 human ensembl 70_37 +1 known rna NULL NULL 0.117 - - - no_errors DPPA3P2 HGNC DPY19L4 286148 genome.wustl.edu 37 8 95789995 95789995 + Missense_Mutation SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 8 95789995 95789995 C A SNP DPY19L4 ENST00000414645 human ensembl 70_37 +1 known missense c.1556 p.T519N 0.997 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000161103 0 genome.wustl.edu 37 22 18844558 18844558 + RNA SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 22 18844558 18844558 C T SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.097 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000232765 0 genome.wustl.edu 37 X 55307817 55307817 + RNA SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 55307817 55307817 G A SNP ENSG00000232765 ENST00000440645 human ensembl 70_37 +1 known rna NULL NULL 0.025 - - - no_errors RP11-382F24.2 Clone_based_vega_gene ENSG00000243175 0 genome.wustl.edu 37 4 144346441 144346441 + RNA SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 4 144346441 144346441 G C SNP ENSG00000243175 ENST00000494591 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-58H15.1 Clone_based_vega_gene EPHA10 284656 genome.wustl.edu 37 1 38227721 38227721 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 38227721 38227721 C T SNP EPHA10 ENST00000427468 human ensembl 70_37 -1 known missense c.206 p.R69H 0.984 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt 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_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA10 HGNC EPHA7 2045 genome.wustl.edu 37 6 94066638 94066638 + Missense_Mutation SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 94066638 94066638 C A SNP EPHA7 ENST00000369303 human ensembl 70_37 -1 known missense c.1121 p.W374L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 EPHA7 HGNC ERBB3 2065 genome.wustl.edu 37 12 56482537 56482537 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 12 56482537 56482537 G C SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.994 p.E332Q 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC FLRT2 23768 genome.wustl.edu 37 14 86087985 86087985 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 14 86087985 86087985 G A SNP FLRT2 ENST00000330753 human ensembl 70_37 +1 known missense c.127 p.D43N 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC FOLH1 2346 genome.wustl.edu 37 11 49207317 49207317 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 11 49207317 49207317 C T SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known missense c.730 p.D244N 0.995 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC FOLH1B 219595 genome.wustl.edu 37 11 89392796 89392796 + RNA SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 11 89392796 89392796 G A SNP FOLH1B ENST00000525540 human ensembl 70_37 +1 known rna NULL NULL 0.884 - - - no_errors FOLH1B HGNC GPR45 11250 genome.wustl.edu 37 2 105858468 105858468 + Silent SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 2 105858468 105858468 C A SNP GPR45 ENST00000258456 human ensembl 70_37 +1 known silent c.153 p.G51 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC HDC 3067 genome.wustl.edu 37 15 50535348 50535348 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 15 50535348 50535348 G A SNP HDC ENST00000267845 human ensembl 70_37 -1 known missense c.1234 p.R412C 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors HDC HGNC IL1RAPL2 26280 genome.wustl.edu 37 X 104961396 104961396 + Missense_Mutation SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 104961396 104961396 G T SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known missense c.809 p.G270V 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC JAKMIP3 282973 genome.wustl.edu 37 10 133950592 133950592 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 10 133950592 133950592 G C SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known missense c.1186 p.E396Q 1.000 NULL NULL - no_errors JAKMIP3 HGNC KATNBL1 79768 genome.wustl.edu 37 15 34438961 34438961 + Splice_Site SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 15 34438961 34438961 C A SNP KATNBL1 ENST00000256544 human ensembl 70_37 -1 known splice_site c.788+1 e7+1 1.000 - - - no_errors KATNBL1 HGNC KCNH5 27133 genome.wustl.edu 37 14 63246573 63246573 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 14 63246573 63246573 C T SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known missense c.1892 p.R631Q 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC KCNK5 8645 genome.wustl.edu 37 6 39158873 39158873 + Silent SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 39158873 39158873 G A SNP KCNK5 ENST00000359534 human ensembl 70_37 -1 known silent c.1293 p.D431 0.044 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC L3MBTL3 84456 genome.wustl.edu 37 6 130392142 130392142 + Silent SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 130392142 130392142 C A SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known silent c.1114 p.R372 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC LAMA5 3911 genome.wustl.edu 37 20 60889699 60889699 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 20 60889699 60889699 G C SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.8279 p.T2760S 1.000 pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LBH 81606 genome.wustl.edu 37 2 30480657 30480657 + RNA DEL T T - TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 2 30480657 30480657 T - DEL LBH ENST00000467242 human ensembl 70_37 +1 known rna NULL NULL 0.930 - - - no_errors LBH HGNC LRSAM1 90678 genome.wustl.edu 37 9 130257661 130257661 + Silent SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 9 130257661 130257661 G T SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known silent c.1662 p.R554 0.990 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC LYPLAL1 127018 genome.wustl.edu 37 1 219347236 219347236 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 219347236 219347236 G A SNP LYPLAL1 ENST00000366928 human ensembl 70_37 +1 known missense c.4 p.A2T 0.776 NULL pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC NARFL 64428 genome.wustl.edu 37 16 789659 789659 + Missense_Mutation SNP T T A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 16 789659 789659 T A SNP NARFL ENST00000251588 human ensembl 70_37 -1 known missense c.146 p.Y49F 1.000 NULL pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC NDUFA9 4704 genome.wustl.edu 37 12 4764034 4764034 + Missense_Mutation SNP A A C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 12 4764034 4764034 A C SNP NDUFA9 ENST00000266544 human ensembl 70_37 +1 known missense c.264 p.K88N 0.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC NLRP3 114548 genome.wustl.edu 37 1 247587315 247587315 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 247587315 247587315 C T SNP NLRP3 ENST00000336119 human ensembl 70_37 +1 known silent c.570 p.I190 0.002 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC NOD1 10392 genome.wustl.edu 37 7 30468996 30468996 + Missense_Mutation SNP T T C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 7 30468996 30468996 T C SNP NOD1 ENST00000222823 human ensembl 70_37 -1 known missense c.2783 p.E928G 0.999 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC NRP1 8829 genome.wustl.edu 37 10 33502528 33502528 + Missense_Mutation SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 10 33502528 33502528 C G SNP NRP1 ENST00000265371 human ensembl 70_37 -1 known missense c.1400 p.S467T 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pirsf_Neuropilin,pfscan_Coagulation_fac_5/8-C_type_dom pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP1 HGNC OXSR1 9943 genome.wustl.edu 37 3 38232252 38232252 + Missense_Mutation SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 3 38232252 38232252 C G SNP OXSR1 ENST00000311806 human ensembl 70_37 +1 known missense c.214 p.H72D 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,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors OXSR1 HGNC PABPC5 140886 genome.wustl.edu 37 X 90691628 90691628 + Missense_Mutation SNP T T C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 90691628 90691628 T C SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known missense c.1052 p.F351S 0.998 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC PAK7 57144 genome.wustl.edu 37 20 9546832 9546832 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 20 9546832 9546832 G A SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known missense c.1190 p.T397M 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC PALM 5064 genome.wustl.edu 37 19 736065 736065 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 736065 736065 C T SNP PALM ENST00000338448 human ensembl 70_37 +1 known silent c.489 p.P163 0.852 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC PCDHGB4 8641 genome.wustl.edu 37 5 140769353 140769353 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 5 140769353 140769353 C T SNP PCDHGB4 ENST00000519479 human ensembl 70_37 +1 known silent c.1902 p.D634 0.954 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC PDIA5 10954 genome.wustl.edu 37 3 122869160 122869160 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 3 122869160 122869160 C T SNP PDIA5 ENST00000316218 human ensembl 70_37 +1 known missense c.1222 p.R408W 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC PEX5 5830 genome.wustl.edu 37 12 7360372 7360372 + Missense_Mutation SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 12 7360372 7360372 G T SNP PEX5 ENST00000434354 human ensembl 70_37 +1 known missense c.1129 p.V377L 1.000 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC SAMD1 90378 genome.wustl.edu 37 19 14200150 14200150 + Missense_Mutation SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 14200150 14200150 C G SNP SAMD1 ENST00000533683 human ensembl 70_37 -1 novel missense c.661 p.E221Q 0.999 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC SLC5A2 6524 genome.wustl.edu 37 16 31500316 31500316 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 16 31500316 31500316 C T SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known missense c.1396 p.P466S 0.996 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC SMCHD1 23347 genome.wustl.edu 37 18 2728529 2728529 + Nonsense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 18 2728529 2728529 C T SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known nonsense c.2848 p.Q950* 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC SPAST 6683 genome.wustl.edu 37 2 32339750 32339750 + Silent SNP T T C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 2 32339750 32339750 T C SNP SPAST ENST00000315285 human ensembl 70_37 +1 known silent c.726 p.T242 0.999 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC SRGAP1 57522 genome.wustl.edu 37 12 64456756 64456756 + Silent SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 12 64456756 64456756 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known silent c.861 p.A287 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SRPX2 27286 genome.wustl.edu 37 X 99920650 99920650 + Silent SNP A A G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 99920650 99920650 A G SNP SRPX2 ENST00000373004 human ensembl 70_37 +1 known silent c.777 p.V259 0.986 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC SSR4 6748 genome.wustl.edu 37 X 153059924 153059924 + RNA SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 153059924 153059924 G C SNP SSR4 ENST00000482902 human ensembl 70_37 +1 known rna NULL NULL 0.071 - - - no_errors SSR4 HGNC TDRD6 221400 genome.wustl.edu 37 6 46656457 46656457 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 46656457 46656457 C T SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.592 p.R198W 0.040 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TLK1 9874 genome.wustl.edu 37 2 171906600 171906600 + Missense_Mutation SNP T T G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 2 171906600 171906600 T G SNP TLK1 ENST00000431350 human ensembl 70_37 -1 known missense c.817 p.M273L 1.000 NULL 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 TLK1 HGNC TP53BP1 7158 genome.wustl.edu 37 15 43701248 43701248 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 15 43701248 43701248 C T SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.5447 p.R1816Q 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TRIOBP 11078 genome.wustl.edu 37 22 38120147 38120147 + Silent SNP A A C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 22 38120147 38120147 A C SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known silent c.1584 p.T528 0.062 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TSPAN7 7102 genome.wustl.edu 37 X 38533571 38533571 + Splice_Site SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 38533571 38533571 G A SNP TSPAN7 ENST00000422612 human ensembl 70_37 +1 known splice_site c.519+1 e5+1 1.000 - - - no_errors TSPAN7 HGNC UCN3 114131 genome.wustl.edu 37 10 5415995 5415995 + Missense_Mutation SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 10 5415995 5415995 G T SNP UCN3 ENST00000380433 human ensembl 70_37 +1 known missense c.312 p.R104S 0.004 NULL pfam_Urocortin_II/III - no_errors UCN3 HGNC USP51 158880 genome.wustl.edu 37 X 55514364 55514364 + Missense_Mutation SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 55514364 55514364 C G SNP USP51 ENST00000500968 human ensembl 70_37 -1 known missense c.1009 p.E337Q 1.000 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC VAV3 10451 genome.wustl.edu 37 1 108115882 108115882 + RNA SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 108115882 108115882 C G SNP VAV3 ENST00000343258 human ensembl 70_37 -1 known rna NULL NULL 0.722 - - - no_errors VAV3 HGNC VNN3 55350 genome.wustl.edu 37 6 133047960 133047960 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 133047960 133047960 G A SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known missense c.727 p.P243S 1.000 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC VPS13B 157680 genome.wustl.edu 37 8 100844677 100844677 + Silent SNP T T G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 8 100844677 100844677 T G SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known silent c.9486 p.P3162 0.998 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC WRAP53 55135 genome.wustl.edu 37 17 7604112 7604112 + Nonsense_Mutation SNP T T A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 17 7604112 7604112 T A SNP WRAP53 ENST00000316024 human ensembl 70_37 +1 known nonsense c.696 p.Y232* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ZMAT1 84460 genome.wustl.edu 37 X 101141647 101141647 + Missense_Mutation SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 101141647 101141647 C A SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known missense c.562 p.D188Y 1.000 smart_Znf_U1,smart_Znf_C2H2-like superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ZNF419 79744 genome.wustl.edu 37 19 58004475 58004475 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 58004475 58004475 G C SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known missense c.553 p.E185Q 0.001 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 ZNF419 HGNC