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 ABCA1 19 genome.wustl.edu 37 9 107593363 107593363 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 9 107593363 107593363 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known nonsense c.1735 p.R579* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ABCB7 22 genome.wustl.edu 37 X 74295234 74295234 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 74295234 74295234 G A SNP ABCB7 ENST00000253577 human ensembl 70_37 -1 known missense c.821 p.P274L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ABCC11 85320 genome.wustl.edu 37 16 48249195 48249195 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 48249195 48249195 G A SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known missense c.1012 p.R338C 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ANAPC2 29882 genome.wustl.edu 37 9 140082274 140082274 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 9 140082274 140082274 C T SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known silent c.399 p.E133 1.000 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC AR 367 genome.wustl.edu 37 X 66765450 66765450 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 66765450 66765450 C T SNP AR ENST00000374690 human ensembl 70_37 +1 known silent c.462 p.D154 0.705 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ARHGAP36 158763 genome.wustl.edu 37 X 130215717 130215717 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 130215717 130215717 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known silent c.78 p.S26 0.081 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ART1 417 genome.wustl.edu 37 11 3681284 3681284 + Nonsense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 3681284 3681284 C T SNP ART1 ENST00000250693 human ensembl 70_37 +1 known nonsense c.535 p.R179* 0.995 pfam_ART pfam_ART,prints_ART - no_errors ART1 HGNC C15orf40 123207 genome.wustl.edu 37 15 83680351 83680351 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 83680351 83680351 C T SNP C15orf40 ENST00000451195 human ensembl 70_37 -1 known silent c.9 p.R3 0.000 NULL pfam_DUF167,superfamily_DUF167 - no_errors C15orf40 HGNC C1orf173 127254 genome.wustl.edu 37 1 75038216 75038216 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 75038216 75038216 G A SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known nonsense c.3178 p.R1060* 0.409 NULL NULL - no_errors C1orf173 HGNC CA6 765 genome.wustl.edu 37 1 9034438 9034438 + Nonsense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 9034438 9034438 C T SNP CA6 ENST00000377436 human ensembl 70_37 +1 putative nonsense c.877 p.Q293* 0.004 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC CASC5 57082 genome.wustl.edu 37 15 40914824 40914824 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 40914824 40914824 G A SNP CASC5 ENST00000346991 human ensembl 70_37 +1 known missense c.2440 p.E814K 0.894 NULL NULL - no_errors CASC5 HGNC CCDC141 285025 genome.wustl.edu 37 2 179749674 179749674 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 179749674 179749674 G A SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.1673 p.S558L 0.409 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC CCDC74B 91409 genome.wustl.edu 37 2 130900165 130900165 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 130900165 130900165 G A SNP CCDC74B ENST00000392984 human ensembl 70_37 -1 known missense c.391 p.L131F 0.000 NULL NULL - no_errors CCDC74B HGNC CCNT1 904 genome.wustl.edu 37 12 49093609 49093609 + Missense_Mutation SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 49093609 49093609 T C SNP CCNT1 ENST00000261900 human ensembl 70_37 -1 known missense c.448 p.I150V 1.000 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC CDHR2 54825 genome.wustl.edu 37 5 176004413 176004413 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 176004413 176004413 C G SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.1208 p.T403S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC CDK5RAP3 80279 genome.wustl.edu 37 17 46053338 46053338 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 46053338 46053338 C T SNP CDK5RAP3 ENST00000338399 human ensembl 70_37 +1 known missense c.757 p.P253S 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC CDKL5 6792 genome.wustl.edu 37 X 18593569 18593569 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 18593569 18593569 C T SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known missense c.241 p.R81W 0.994 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 CDKL5 HGNC CEACAM8 1088 genome.wustl.edu 37 19 43093883 43093883 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 43093883 43093883 C G SNP CEACAM8 ENST00000244336 human ensembl 70_37 -1 known missense c.429 p.E143D 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM8 HGNC CLHC1 130162 genome.wustl.edu 37 2 55436648 55436648 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 55436648 55436648 G C SNP CLHC1 ENST00000401408 human ensembl 70_37 -1 known missense c.706 p.Q236E 0.994 pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC CNN3 1266 genome.wustl.edu 37 1 95367349 95367349 + RNA SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 95367349 95367349 G T SNP CNN3 ENST00000461018 human ensembl 70_37 -1 known rna NULL NULL 0.923 - - - no_errors CNN3 HGNC CUL7 9820 genome.wustl.edu 37 6 43006110 43006110 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 43006110 43006110 G A SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known silent c.4920 p.D1640 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC CX3CR1 1524 genome.wustl.edu 37 3 39307021 39307021 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 39307021 39307021 G C SNP CX3CR1 ENST00000358309 human ensembl 70_37 -1 known missense c.1076 p.S359C 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_fractalkine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC DCP2 167227 genome.wustl.edu 37 5 112327822 112327822 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 112327822 112327822 C T SNP DCP2 ENST00000389063 human ensembl 70_37 +1 known silent c.210 p.F70 1.000 pfam_mRNA_decapping_BoxA pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC DENND2A 27147 genome.wustl.edu 37 7 140302004 140302004 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 7 140302004 140302004 C T SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known missense c.194 p.S65N 0.006 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 DENND2A HGNC DGAT2L6 347516 genome.wustl.edu 37 X 69424301 69424301 + Missense_Mutation SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 69424301 69424301 A G SNP DGAT2L6 ENST00000333026 human ensembl 70_37 +1 known missense c.794 p.H265R 1.000 pfam_DAGAT pfam_DAGAT - no_errors DGAT2L6 HGNC DHRS9 10170 genome.wustl.edu 37 2 169938392 169938392 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 169938392 169938392 G T SNP DHRS9 ENST00000432060 human ensembl 70_37 +1 known missense c.481 p.V161F 0.999 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC DLG3 1741 genome.wustl.edu 37 X 69670155 69670155 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 69670155 69670155 G A SNP DLG3 ENST00000194900 human ensembl 70_37 +1 known silent c.894 p.A298 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG3 HGNC DNAJA2 10294 genome.wustl.edu 37 16 46992983 46992983 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 46992983 46992983 C G SNP DNAJA2 ENST00000317089 human ensembl 70_37 -1 known missense c.979 p.G327R 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA2 HGNC DNAJC1 64215 genome.wustl.edu 37 10 22048362 22048362 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 10 22048362 22048362 G A SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1333 p.R445W 0.997 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC ECHDC3 79746 genome.wustl.edu 37 10 11797400 11797400 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 10 11797400 11797400 C T SNP ECHDC3 ENST00000495787 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ECHDC3 HGNC ELK1 2002 genome.wustl.edu 37 X 47498360 47498360 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 47498360 47498360 G T SNP ELK1 ENST00000247161 human ensembl 70_37 -1 known missense c.588 p.S196R 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENAH 55740 genome.wustl.edu 37 1 225705419 225705419 + Missense_Mutation SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 225705419 225705419 T C SNP ENAH ENST00000284563 human ensembl 70_37 -1 novel missense c.1133 p.K378R 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000214776 0 genome.wustl.edu 37 12 9723469 9723469 + RNA SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 9723469 9723469 A G SNP ENSG00000214776 ENST00000520314 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000218819 0 genome.wustl.edu 37 2 21363796 21363796 + Missense_Mutation SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 21363796 21363796 A G SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel missense c.3457 p.M1153V 0.001 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000227582 0 genome.wustl.edu 37 9 66517927 66517927 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 9 66517927 66517927 G A SNP ENSG00000227582 ENST00000590130 human ensembl 70_37 -1 known rna NULL NULL 0.948 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000229203 0 genome.wustl.edu 37 2 132587476 132587476 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 132587476 132587476 C T SNP ENSG00000229203 ENST00000437330 human ensembl 70_37 -1 known rna NULL NULL 0.855 - - - no_errors AC103564.7 Clone_based_vega_gene ENSG00000232274 0 genome.wustl.edu 37 1 143210571 143210572 + RNA DEL AC AC - TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 143210571 143210572 AC - DEL ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.083:0.084 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000261727 0 genome.wustl.edu 37 16 32095751 32095751 + RNA SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 32095751 32095751 C G SNP ENSG00000261727 ENST00000566806 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-1166P10.6 Clone_based_vega_gene ENSG00000263606 0 genome.wustl.edu 37 18 2946117 2946117 + RNA SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 18 2946117 2946117 C A SNP ENSG00000263606 ENST00000581139 human ensembl 70_37 -1 known rna NULL NULL 0.913 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000266490 0 genome.wustl.edu 37 17 29119682 29119682 + RNA SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 29119682 29119682 C G SNP ENSG00000266490 ENST00000580085 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2349P21.9 Clone_based_vega_gene ENSG00000267776 0 genome.wustl.edu 37 19 56888204 56888204 + RNA SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 56888204 56888204 C A SNP ENSG00000267776 ENST00000591836 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006116.24 Clone_based_vega_gene ENSG00000268713 0 genome.wustl.edu 37 19 57773086 57773086 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 57773086 57773086 G A SNP ENSG00000268713 ENST00000600047 human ensembl 70_37 +1 known rna NULL NULL 0.027 - - - no_errors CTC-444N24.8 Clone_based_vega_gene EPB41L3 23136 genome.wustl.edu 37 18 5445243 5445243 + Missense_Mutation SNP T T G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 18 5445243 5445243 T G SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known missense c.382 p.K128Q 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L3 HGNC ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,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 ERV3-1 2086 genome.wustl.edu 37 7 64467013 64467013 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 7 64467013 64467013 G A SNP ERV3-1 ENST00000528878 human ensembl 70_37 -1 known rna NULL NULL 0.052 - - - no_errors ERV3-1 HGNC EXO1 9156 genome.wustl.edu 37 1 242016700 242016700 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 242016700 242016700 C T SNP EXO1 ENST00000348581 human ensembl 70_37 +1 known missense c.322 p.R108C 1.000 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors EXO1 HGNC FAM115C 285966 genome.wustl.edu 37 7 143417134 143417134 + Missense_Mutation SNP A A T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 7 143417134 143417134 A T SNP FAM115C ENST00000441159 human ensembl 70_37 +1 known missense c.982 p.N328Y 0.660 NULL NULL - no_errors FAM115C HGNC FAM58A 92002 genome.wustl.edu 37 X 152858020 152858020 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 152858020 152858020 G A SNP FAM58A ENST00000406277 human ensembl 70_37 -1 known nonsense c.595 p.Q199* 0.998 superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors FAM58A HGNC FAP 2191 genome.wustl.edu 37 2 163051248 163051248 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 163051248 163051248 G A SNP FAP ENST00000188790 human ensembl 70_37 -1 known silent c.1413 p.I471 0.980 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC FRYL 285527 genome.wustl.edu 37 4 48542058 48542058 + Missense_Mutation SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 4 48542058 48542058 A G SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.6323 p.L2108S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC GGACT 87769 genome.wustl.edu 37 13 101184552 101184552 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 101184552 101184552 C T SNP GGACT ENST00000376250 human ensembl 70_37 -1 known silent c.294 p.L98 0.010 pfam_AIG2-like pfam_AIG2-like - no_errors GGACT HGNC GNB3 2784 genome.wustl.edu 37 12 6950484 6950484 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 6950484 6950484 G A SNP GNB3 ENST00000229264 human ensembl 70_37 +1 known silent c.33 p.A11 0.337 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC GREB1 9687 genome.wustl.edu 37 2 11765420 11765420 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 11765420 11765420 C G SNP GREB1 ENST00000234142 human ensembl 70_37 +1 known missense c.4288 p.Q1430E 0.234 NULL NULL - no_errors GREB1 HGNC GRIK4 2900 genome.wustl.edu 37 11 120852839 120852839 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 120852839 120852839 G T SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known missense c.2420 p.G807V 1.000 pfam_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC GRM6 2916 genome.wustl.edu 37 5 178418889 178418889 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 178418889 178418889 C T SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known missense c.700 p.V234I 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC GUCY1B3 2983 genome.wustl.edu 37 4 156698760 156698760 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 4 156698760 156698760 G A SNP GUCY1B3 ENST00000264424 human ensembl 70_37 +1 known missense c.263 p.R88H 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC MROH2A 339766 genome.wustl.edu 37 2 234698660 234698660 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 234698660 234698660 G A SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel missense c.571 p.V191M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC HERC2P4 100289574 genome.wustl.edu 37 16 32163830 32163830 + RNA SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 32163830 32163830 C A SNP HERC2P4 ENST00000563904 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC HIST2H2BE 8349 genome.wustl.edu 37 1 149857969 149857969 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 149857969 149857969 G A SNP HIST2H2BE ENST00000369155 human ensembl 70_37 -1 known silent c.222 p.I74 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC HLA-A 3105 genome.wustl.edu 37 6 29910398 29910398 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 29910398 29910398 G A SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.68 p.W23* 0.091 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HMGB1P5 10354 genome.wustl.edu 37 3 22424366 22424366 + RNA SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 22424366 22424366 G T SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC HOXB4 3214 genome.wustl.edu 37 17 46654215 46654215 + Missense_Mutation SNP A A C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 46654215 46654215 A C SNP HOXB4 ENST00000332503 human ensembl 70_37 -1 known missense c.625 p.W209G 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC HSPA14 51182 genome.wustl.edu 37 10 14885843 14885843 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 10 14885843 14885843 C T SNP HSPA14 ENST00000309584 human ensembl 70_37 +1 known silent c.769 p.L257 1.000 NULL NULL - no_errors HSPA14 HGNC HUWE1 10075 genome.wustl.edu 37 X 53564520 53564520 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 53564520 53564520 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.12134 p.R4045Q 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC IL3RA 3563 genome.wustl.edu 37 X 1464225 1464225 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 1464225 1464225 C G SNP IL3RA ENST00000331035 human ensembl 70_37 +1 known missense c.81 p.I27M 0.003 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC INTS5 80789 genome.wustl.edu 37 11 62416084 62416084 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 62416084 62416084 G A SNP INTS5 ENST00000330574 human ensembl 70_37 -1 known nonsense c.1468 p.R490* 0.986 NULL NULL - no_errors INTS5 HGNC JAKMIP1 152789 genome.wustl.edu 37 4 6037785 6037785 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 4 6037785 6037785 G A SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known missense c.2225 p.P742L 0.886 NULL NULL - no_errors JAKMIP1 HGNC KCNMA1 3778 genome.wustl.edu 37 10 79396114 79396114 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 10 79396114 79396114 C T SNP KCNMA1 ENST00000480683 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNMA1 HGNC KL 9365 genome.wustl.edu 37 13 33635286 33635286 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 33635286 33635286 G A SNP KL ENST00000380099 human ensembl 70_37 +1 known silent c.2070 p.P690 0.005 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC KRT16 3868 genome.wustl.edu 37 17 39768637 39768637 + Missense_Mutation SNP A A C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 39768637 39768637 A C SNP KRT16 ENST00000301653 human ensembl 70_37 -1 known missense c.304 p.F102V 0.013 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC KRT17P1 147228 genome.wustl.edu 37 17 16748885 16748885 + RNA SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 16748885 16748885 A G SNP KRT17P1 ENST00000577449 human ensembl 70_37 -1 putative rna NULL NULL 0.510 - - - no_errors KRT17P1 HGNC LOC389634 389634 genome.wustl.edu 37 12 8542870 8542870 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 8542870 8542870 C T SNP LOC389634 ENST00000420040 human ensembl 70_37 -1 known rna NULL NULL 0.743 - - - no_errors RP11-90D4.2 Clone_based_vega_gene LPIN1 23175 genome.wustl.edu 37 2 11919735 11919735 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 11919735 11919735 G A SNP LPIN1 ENST00000449576 human ensembl 70_37 +1 known missense c.1068 p.M356I 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC MAS1L 116511 genome.wustl.edu 37 6 29454755 29454755 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 29454755 29454755 C T SNP MAS1L ENST00000377127 human ensembl 70_37 -1 known missense c.925 p.A309T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MAS1L HGNC KMT2C 58508 genome.wustl.edu 37 7 151962134 151962134 + Nonsense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 7 151962134 151962134 G T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.1173 p.C391* 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MORC1 27136 genome.wustl.edu 37 3 108688569 108688569 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 108688569 108688569 G A SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known silent c.2551 p.L851 0.996 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC MRPL44 65080 genome.wustl.edu 37 2 224824505 224824508 + Frame_Shift_Del DEL ACCC ACCC - TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 ACCC ACCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 224824505 224824508 ACCC - DEL MRPL44 ENST00000258383 human ensembl 70_37 +1 known frame_shift_del c.434_437 p.Y145fs 0.011:0.564:0.998:1.000 superfamily_RNase_III_dom superfamily_RNase_III_dom,pfscan_Ds-RNA-bd - no_errors MRPL44 HGNC MSH3 4437 genome.wustl.edu 37 5 80071547 80071547 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 80071547 80071547 G A SNP MSH3 ENST00000265081 human ensembl 70_37 +1 known missense c.2288 p.C763Y 1.000 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC MSLN 10232 genome.wustl.edu 37 16 816385 816385 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 816385 816385 C T SNP MSLN ENST00000382862 human ensembl 70_37 +1 known silent c.1125 p.L375 0.984 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC MYBPC1 4604 genome.wustl.edu 37 12 102038471 102038471 + Nonsense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 102038471 102038471 C T SNP MYBPC1 ENST00000361466 human ensembl 70_37 +1 known nonsense c.862 p.Q288* 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC1 HGNC MYH15 22989 genome.wustl.edu 37 3 108149738 108149738 + Nonsense_Mutation SNP T T A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 108149738 108149738 T A SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known nonsense c.3313 p.K1105* 0.289 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC NCAM1 4684 genome.wustl.edu 37 11 113076287 113076287 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 113076287 113076287 G A SNP NCAM1 ENST00000316851 human ensembl 70_37 +1 known missense c.359 p.R120Q 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM1 HGNC NEB 4703 genome.wustl.edu 37 2 152476075 152476075 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 152476075 152476075 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known nonsense c.10762 p.Q3588* 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NF2 4771 genome.wustl.edu 37 22 30000004 30000004 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 22 30000004 30000004 C T SNP NF2 ENST00000338641 human ensembl 70_37 +1 known missense c.17 p.A6V 1.000 NULL pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain - no_errors NF2 HGNC OCRL 4952 genome.wustl.edu 37 X 128695163 128695163 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 128695163 128695163 G A SNP OCRL ENST00000371113 human ensembl 70_37 +1 known missense c.832 p.E278K 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC OR4D9 390199 genome.wustl.edu 37 11 59282804 59282804 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 59282804 59282804 G A SNP OR4D9 ENST00000329328 human ensembl 70_37 +1 known missense c.419 p.R140Q 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC OR8K5 219453 genome.wustl.edu 37 11 55927137 55927137 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 55927137 55927137 C T SNP OR8K5 ENST00000313447 human ensembl 70_37 -1 known missense c.657 p.M219I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC OTOA 146183 genome.wustl.edu 37 16 21689852 21689852 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 21689852 21689852 C T SNP OTOA ENST00000286149 human ensembl 70_37 +1 known missense c.17 p.T6M 0.000 NULL NULL - no_errors OTOA HGNC PALM 5064 genome.wustl.edu 37 19 726146 726146 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 726146 726146 C T SNP PALM ENST00000338448 human ensembl 70_37 +1 known missense c.14 p.A5V 0.012 NULL pfam_Paralemmin - no_errors PALM HGNC PARP9 83666 genome.wustl.edu 37 3 122247475 122247475 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 122247475 122247475 G A SNP PARP9 ENST00000360356 human ensembl 70_37 -1 known silent c.2301 p.L767 0.972 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC PCDHA9 9752 genome.wustl.edu 37 5 140230183 140230183 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 140230183 140230183 C G SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known missense c.2103 p.I701M 0.988 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC PCDHB14 56122 genome.wustl.edu 37 5 140603943 140603943 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 140603943 140603943 G A SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.866 p.R289H 0.001 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 PCDHB14 HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144918884 144918884 + Missense_Mutation SNP T T G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 144918884 144918884 T G SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.1302 p.Q434H 0.891 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PIK3CA 5290 genome.wustl.edu 37 3 178916854 178916854 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 178916854 178916854 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.241 p.E81K 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_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 PITPNM2 57605 genome.wustl.edu 37 12 123471369 123471369 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 123471369 123471369 G T SNP PITPNM2 ENST00000320201 human ensembl 70_37 -1 known missense c.3421 p.Q1141K 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC PKHD1 5314 genome.wustl.edu 37 6 51921520 51921520 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 51921520 51921520 G T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.1669 p.L557I 0.006 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PLCXD3 345557 genome.wustl.edu 37 5 41382227 41382227 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 41382227 41382227 G A SNP PLCXD3 ENST00000328457 human ensembl 70_37 -1 known silent c.513 p.C171 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC PLEKHG5 57449 genome.wustl.edu 37 1 6537661 6537661 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 6537661 6537661 C T SNP PLEKHG5 ENST00000537245 human ensembl 70_37 -1 known missense c.208 p.E70K 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC PLEKHG6 55200 genome.wustl.edu 37 12 6422899 6422899 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 6422899 6422899 G C SNP PLEKHG6 ENST00000011684 human ensembl 70_37 +1 known missense c.243 p.K81N 0.905 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC POLRMT 5442 genome.wustl.edu 37 19 621725 621725 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 621725 621725 G A SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.2018 p.P673L 0.298 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC PRSS55 203074 genome.wustl.edu 37 8 10396148 10396148 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 8 10396148 10396148 G A SNP PRSS55 ENST00000328655 human ensembl 70_37 +1 known missense c.904 p.E302K 0.341 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS55 HGNC PTGER4 5734 genome.wustl.edu 37 5 40691969 40691969 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 40691969 40691969 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known missense c.956 p.S319F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC RALGAPB 57148 genome.wustl.edu 37 20 37153553 37153553 + Nonsense_Mutation SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 20 37153553 37153553 C A SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known nonsense c.1752 p.Y584* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC RALGAPB 57148 genome.wustl.edu 37 20 37154152 37154152 + Silent SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 20 37154152 37154152 C G SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known silent c.1893 p.V631 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC RB1 5925 genome.wustl.edu 37 13 49047512 49047512 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 49047512 49047512 G T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known missense c.2506 p.G836C 1.000 pfam_Rb_C pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RB1 5925 genome.wustl.edu 37 13 49050678 49050678 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 49050678 49050678 G A SNP RB1 ENST00000484879 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RB1 HGNC RB1 5925 genome.wustl.edu 37 13 49050707 49050707 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 49050707 49050707 G A SNP RB1 ENST00000484879 human ensembl 70_37 +1 known rna NULL NULL 0.045 - - - no_errors RB1 HGNC RBM15 64783 genome.wustl.edu 37 1 110882167 110882167 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 110882167 110882167 G A SNP RBM15 ENST00000369784 human ensembl 70_37 +1 known missense c.140 p.G47E 1.000 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC SCN5A 6331 genome.wustl.edu 37 3 38627473 38627473 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 38627473 38627473 G A SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known silent c.2496 p.I832 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC SCN7A 6332 genome.wustl.edu 37 2 167262620 167262620 + Missense_Mutation SNP T T G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 167262620 167262620 T G SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.4519 p.N1507H 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC SEC14L2 23541 genome.wustl.edu 37 22 30805418 30805418 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 22 30805418 30805418 C T SNP SEC14L2 ENST00000312932 human ensembl 70_37 +1 known missense c.523 p.L175F 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC SETD2 29072 genome.wustl.edu 37 3 47163506 47163506 + Missense_Mutation SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 47163506 47163506 T C SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.2620 p.I874V 0.001 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC SIGLEC6 946 genome.wustl.edu 37 19 52034738 52034738 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 52034738 52034738 C T SNP SIGLEC6 ENST00000425629 human ensembl 70_37 -1 known missense c.103 p.G35R 0.000 pfam_Ig_V-set pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC SLC22A7 10864 genome.wustl.edu 37 6 43270123 43270123 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 43270123 43270123 C T SNP SLC22A7 ENST00000372585 human ensembl 70_37 +1 known missense c.1247 p.A416V 0.007 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC SLC26A9 115019 genome.wustl.edu 37 1 205897082 205897082 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 205897082 205897082 G A SNP SLC26A9 ENST00000340781 human ensembl 70_37 -1 known missense c.1049 p.A350V 0.999 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC SLC34A2 10568 genome.wustl.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 4 25678148 25678150 GCT - DEL SLC34A2 ENST00000382051 human ensembl 70_37 +1 known in_frame_del c.1850_1852 p.C621in_frame_del 0.353:0.958:1.000 NULL pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC SLC35B3 51000 genome.wustl.edu 37 6 8413801 8413801 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 8413801 8413801 G A SNP SLC35B3 ENST00000379660 human ensembl 70_37 -1 known missense c.1187 p.T396M 1.000 NULL pfam_UAA - no_errors SLC35B3 HGNC SMCHD1 23347 genome.wustl.edu 37 18 2697930 2697930 + Silent SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 18 2697930 2697930 T C SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known silent c.1233 p.F411 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC SOS1 6654 genome.wustl.edu 37 2 39213258 39213258 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 39213258 39213258 G C SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.3709 p.P1237A 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC SOX3 6658 genome.wustl.edu 37 X 139586614 139586614 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 139586614 139586614 C T SNP SOX3 ENST00000370536 human ensembl 70_37 -1 known silent c.612 p.P204 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX3 HGNC SRSF11 9295 genome.wustl.edu 37 1 70716118 70716120 + In_Frame_Del DEL AAG AAG - TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 70716118 70716120 AAG - DEL SRSF11 ENST00000370950 human ensembl 70_37 +1 known in_frame_del c.1189_1191 p.K400in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC STAP2 55620 genome.wustl.edu 37 19 4327333 4327333 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 4327333 4327333 C T SNP STAP2 ENST00000314714 human ensembl 70_37 -1 known missense c.640 p.V214M 0.771 pfscan_SH2 pfscan_SH2 - no_errors STAP2 HGNC STX3 6809 genome.wustl.edu 37 11 59560895 59560895 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 59560895 59560895 G A SNP STX3 ENST00000337979 human ensembl 70_37 +1 known missense c.583 p.E195K 1.000 superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC STXBP5L 9515 genome.wustl.edu 37 3 120957831 120957831 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 120957831 120957831 G C SNP STXBP5L ENST00000273666 human ensembl 70_37 +1 known missense c.1198 p.E400Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC SYNM 23336 genome.wustl.edu 37 15 99670051 99670051 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 99670051 99670051 C G SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.1483 p.L495V 0.000 NULL pfam_F - no_errors SYNM HGNC TBC1D25 4943 genome.wustl.edu 37 X 48403316 48403316 + Missense_Mutation SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 48403316 48403316 T C SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known missense c.293 p.L98P 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC TCP10L2 401285 genome.wustl.edu 37 6 167585684 167585684 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 167585684 167585684 G C SNP TCP10L2 ENST00000283507 human ensembl 70_37 +1 known missense c.52 p.E18Q 0.001 NULL NULL - no_errors TCP10L2 HGNC TP53BP1 7158 genome.wustl.edu 37 15 43748156 43748156 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 43748156 43748156 C T SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.2650 p.A884T 0.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TRIM49C 642612 genome.wustl.edu 37 11 89774688 89774688 + Silent SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 89774688 89774688 C G SNP TRIM49C ENST00000448984 human ensembl 70_37 +1 known silent c.1329 p.L443 0.004 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49C HGNC TTF2 8458 genome.wustl.edu 37 1 117639973 117639973 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 117639973 117639973 G T SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known missense c.3187 p.V1063L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC TUBBP5 643224 genome.wustl.edu 37 9 141071667 141071667 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 9 141071667 141071667 C T SNP TUBBP5 ENST00000290377 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC UBE2E1 7324 genome.wustl.edu 37 3 23930675 23930675 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 23930675 23930675 G C SNP UBE2E1 ENST00000306627 human ensembl 70_37 +1 known missense c.409 p.D137H 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E1 HGNC VCAN 1462 genome.wustl.edu 37 5 82817176 82817176 + Silent SNP T T G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 82817176 82817176 T G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known silent c.3051 p.S1017 0.002 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VWA9 81556 genome.wustl.edu 37 15 65871854 65871854 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 65871854 65871854 G A SNP VWA9 ENST00000567744 human ensembl 70_37 -1 known silent c.1557 p.A519 1.000 NULL NULL - no_errors VWA9 HGNC ZC3H10 84872 genome.wustl.edu 37 12 56512080 56512080 + RNA SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 56512080 56512080 A G SNP ZC3H10 ENST00000549973 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZC3H10 HGNC ZFP28 140612 genome.wustl.edu 37 19 57066448 57066448 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 57066448 57066448 C T SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known missense c.2294 p.A765V 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,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 ZFP28 HGNC ZFP36L2 678 genome.wustl.edu 37 2 43452806 43452806 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 43452806 43452806 G A SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.137 p.S46L 0.996 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ZFPL1 7542 genome.wustl.edu 37 11 64854869 64854869 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 64854869 64854869 G A SNP ZFPL1 ENST00000294258 human ensembl 70_37 +1 known missense c.710 p.R237H 1.000 NULL NULL - no_errors ZFPL1 HGNC ZNF143 7702 genome.wustl.edu 37 11 9495505 9495505 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 9495505 9495505 G T SNP ZNF143 ENST00000396602 human ensembl 70_37 +1 known missense c.223 p.G75C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ZNF43 7594 genome.wustl.edu 37 19 21992363 21992363 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 21992363 21992363 G A SNP ZNF43 ENST00000354959 human ensembl 70_37 -1 known missense c.476 p.S159L 0.000 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 ZNF43 HGNC ZNF860 344787 genome.wustl.edu 37 3 32030845 32030845 + Missense_Mutation SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 32030845 32030845 C A SNP ZNF860 ENST00000360311 human ensembl 70_37 +1 known missense c.274 p.H92N 0.995 pfscan_Krueppel-associated_box 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 ZNF860 HGNC ZNF93 81931 genome.wustl.edu 37 19 20044223 20044223 + Silent SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 20044223 20044223 C G SNP ZNF93 ENST00000343769 human ensembl 70_37 +1 known silent c.459 p.V153 0.990 smart_Znf_C2H2-like,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 ZNF93 HGNC