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 ABCA6 23460 genome.wustl.edu 37 17 67108351 67108351 + Missense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 67108351 67108351 C A SNP ABCA6 ENST00000284425 human ensembl 70_37 -1 known missense c.2105 p.R702I 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ABCC2 1244 genome.wustl.edu 37 10 101557086 101557086 + Missense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 10 101557086 101557086 C A SNP ABCC2 ENST00000370449 human ensembl 70_37 +1 known missense c.865 p.L289M 0.997 tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ABR 29 genome.wustl.edu 37 17 1028642 1028642 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 1028642 1028642 G A SNP ABR ENST00000302538 human ensembl 70_37 -1 known missense c.122 p.P41L 0.986 NULL pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ANKFN1 162282 genome.wustl.edu 37 17 54526549 54526549 + Splice_Site SNP T T C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 54526549 54526549 T C SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known splice_site c.1216+2 e10+2 1.000 - - - no_errors ANKFN1 HGNC ANKRD18CP 100287922 genome.wustl.edu 37 9 99924198 99924198 + RNA SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 9 99924198 99924198 C T SNP ANKRD18CP ENST00000354752 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ANKRD18CP HGNC ANKUB1 389161 genome.wustl.edu 37 3 149485593 149485593 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 149485593 149485593 G T SNP ANKUB1 ENST00000446160 human ensembl 70_37 -1 known missense c.856 p.H286N 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup - no_errors ANKUB1 HGNC ARHGAP35 2909 genome.wustl.edu 37 19 47423758 47423758 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 19 47423758 47423758 C T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.1826 p.A609V 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC BRD7 29117 genome.wustl.edu 37 16 50360205 50360205 + Missense_Mutation SNP T T G TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 16 50360205 50360205 T G SNP BRD7 ENST00000394689 human ensembl 70_37 -1 known missense c.1185 p.K395N 0.999 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD7 HGNC C12orf54 121273 genome.wustl.edu 37 12 48881835 48881835 + RNA SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 12 48881835 48881835 G T SNP C12orf54 ENST00000548913 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors C12orf54 HGNC C16orf86 388284 genome.wustl.edu 37 16 67700945 67700945 + Silent SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 16 67700945 67700945 G A SNP C16orf86 ENST00000403458 human ensembl 70_37 +1 known silent c.72 p.T24 0.000 NULL NULL - no_errors C16orf86 HGNC CLINT1 9685 genome.wustl.edu 37 5 157232884 157232884 + Missense_Mutation SNP G G C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 5 157232884 157232884 G C SNP CLINT1 ENST00000296951 human ensembl 70_37 -1 known missense c.878 p.S293C 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC CREBBP 1387 genome.wustl.edu 37 16 3799625 3799626 + Splice_Site INS - - A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 16 3799625 3799626 - A INS CREBBP ENST00000262367 human ensembl 70_37 -1 known splice_site_ins c.3836+2_3836+1 e21+2 1.000:1.000 - - - no_errors CREBBP HGNC CT47B1 643311 genome.wustl.edu 37 X 120009305 120009305 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 120009305 120009305 C T SNP CT47B1 ENST00000371311 human ensembl 70_37 -1 known missense c.220 p.A74T 0.000 NULL NULL - no_errors CT47B1 HGNC DCTN1 1639 genome.wustl.edu 37 2 74594182 74594182 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 74594182 74594182 G A SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.2306 p.A769V 1.000 pfam_Dynactin pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC DLC1 10395 genome.wustl.edu 37 8 12948839 12948839 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 8 12948839 12948839 C T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.3843 p.K1281 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DYNC1I2 1781 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC DYNC1I2 1781 genome.wustl.edu 37 2 172600662 172600662 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 172600662 172600662 G T SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.1640 p.G547V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC EML5 161436 genome.wustl.edu 37 14 89130940 89130940 + Silent SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 14 89130940 89130940 G T SNP EML5 ENST00000554922 human ensembl 70_37 -1 known silent c.3306 p.S1102 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000232301 0 genome.wustl.edu 37 7 100944258 100944258 + RNA SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 7 100944258 100944258 G A SNP ENSG00000232301 ENST00000429254 human ensembl 70_37 +1 known rna NULL NULL 0.140 - - - no_errors RP11-132A1.3 Clone_based_vega_gene ENSG00000262580 0 genome.wustl.edu 37 17 78175491 78175491 + RNA SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 78175491 78175491 C T SNP ENSG00000262580 ENST00000570309 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-334C17.5 Clone_based_vega_gene EVX2 344191 genome.wustl.edu 37 2 176948108 176948108 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 176948108 176948108 C T SNP EVX2 ENST00000308618 human ensembl 70_37 -1 known missense c.397 p.A133T 0.025 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC GLIPR1 11010 genome.wustl.edu 37 12 75874739 75874739 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 12 75874739 75874739 G A SNP GLIPR1 ENST00000266659 human ensembl 70_37 +1 known missense c.79 p.D27N 0.822 superfamily_CAP_domain pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC GRIA3 2892 genome.wustl.edu 37 X 122336540 122336540 + Silent SNP T T C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 122336540 122336540 T C SNP GRIA3 ENST00000371264 human ensembl 70_37 +1 known silent c.321 p.N107 0.000 NULL NULL - no_errors GRIA3 HGNC HERC1 8925 genome.wustl.edu 37 15 63972276 63972276 + Missense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 15 63972276 63972276 C A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.6549 p.K2183N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HHIPL2 79802 genome.wustl.edu 37 1 222717481 222717481 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 1 222717481 222717481 C T SNP HHIPL2 ENST00000343410 human ensembl 70_37 -1 known silent c.372 p.T124 0.435 pfam_Folate_rcpt-like,superfamily_Saposin-like pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ITGAE 3682 genome.wustl.edu 37 17 3656605 3656605 + Silent SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 3656605 3656605 G A SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known silent c.1647 p.Y549 0.109 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC LINC00588 26138 genome.wustl.edu 37 8 58192647 58192647 + RNA SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 8 58192647 58192647 G T SNP LINC00588 ENST00000521663 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00588 HGNC LRRC69 100130742 genome.wustl.edu 37 8 92139388 92139388 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 8 92139388 92139388 G T SNP LRRC69 ENST00000448384 human ensembl 70_37 +1 novel missense c.383 p.R128I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC69 HGNC MAGEB2 4113 genome.wustl.edu 37 X 30236904 30236904 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 30236904 30236904 C T SNP MAGEB2 ENST00000378988 human ensembl 70_37 +1 known silent c.207 p.A69 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC MAGI3 260425 genome.wustl.edu 37 1 114224863 114224863 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 1 114224863 114224863 G A SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.3358 p.V1120M 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC MCM5 4174 genome.wustl.edu 37 22 35820213 35820213 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 22 35820213 35820213 C T SNP MCM5 ENST00000216122 human ensembl 70_37 +1 known missense c.2170 p.R724C 1.000 NULL pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC MYH6 4624 genome.wustl.edu 37 14 23866005 23866005 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 14 23866005 23866005 C T SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known silent c.2190 p.V730 0.369 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC NLRP5 126206 genome.wustl.edu 37 19 56538760 56538760 + Silent SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 19 56538760 56538760 G A SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known silent c.1161 p.P387 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC PARP12 64761 genome.wustl.edu 37 7 139734130 139734130 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 7 139734130 139734130 G T SNP PARP12 ENST00000473341 human ensembl 70_37 -1 known missense c.1184 p.P395H 0.278 NULL pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom - no_errors PARP12 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 178917478 178917478 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.353 p.G118D 1.000 NULL 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 PRDM10 56980 genome.wustl.edu 37 11 129788548 129788548 + Silent SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 11 129788548 129788548 G A SNP PRDM10 ENST00000358825 human ensembl 70_37 -1 known silent c.2112 p.A704 0.019 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC SASH3 54440 genome.wustl.edu 37 X 128926434 128926434 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 128926434 128926434 C T SNP SASH3 ENST00000356892 human ensembl 70_37 +1 known silent c.573 p.H191 0.062 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC SCN11A 11280 genome.wustl.edu 37 3 38924826 38924826 + Missense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 38924826 38924826 C A SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.3117 p.W1039C 0.023 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC SCN4A 6329 genome.wustl.edu 37 17 62041962 62041962 + Missense_Mutation SNP T T C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 62041962 62041962 T C SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known missense c.1318 p.N440D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC SI 6476 genome.wustl.edu 37 3 164735793 164735793 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 164735793 164735793 G T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.3485 p.A1162D 1.000 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SLC27A5 10998 genome.wustl.edu 37 19 59022902 59022902 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 19 59022902 59022902 C T SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.421 p.G141S 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC SLC2A11 66035 genome.wustl.edu 37 22 24227028 24227028 + Nonsense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 22 24227028 24227028 G T SNP SLC2A11 ENST00000398356 human ensembl 70_37 +1 known nonsense c.1504 p.E502* 0.439 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A11 HGNC SLC38A1 81539 genome.wustl.edu 37 12 46589960 46589960 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 12 46589960 46589960 C A SNP SLC38A1 ENST00000552197 human ensembl 70_37 -1 novel nonsense c.1462 p.E488* 0.001 NULL pfam_AA_transpt_TM - no_errors SLC38A1 HGNC SNX14 57231 genome.wustl.edu 37 6 86235932 86235932 + Silent SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 6 86235932 86235932 C A SNP SNX14 ENST00000314673 human ensembl 70_37 -1 known silent c.2019 p.L673 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX14 HGNC STAB1 23166 genome.wustl.edu 37 3 52552812 52552812 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 52552812 52552812 G A SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.4961 p.R1654Q 0.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC T 6862 genome.wustl.edu 37 6 166571847 166571847 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 6 166571847 166571847 G A SNP T ENST00000296946 human ensembl 70_37 -1 known missense c.1264 p.R422C 0.893 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box - no_errors T HGNC TAF4 6874 genome.wustl.edu 37 20 60584215 60584215 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 20 60584215 60584215 C T SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known missense c.1777 p.V593M 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC TCF25 22980 genome.wustl.edu 37 16 89954104 89954104 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 16 89954104 89954104 G A SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known missense c.593 p.R198Q 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC TRAPPC5 126003 genome.wustl.edu 37 19 7747433 7747433 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 19 7747433 7747433 C T SNP TRAPPC5 ENST00000317378 human ensembl 70_37 +1 known silent c.294 p.F98 0.987 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31 - no_errors TRAPPC5 HGNC TRH 7200 genome.wustl.edu 37 3 129694732 129694732 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 129694732 129694732 C T SNP TRH ENST00000302649 human ensembl 70_37 +1 known nonsense c.73 p.Q25* 0.034 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC TRIL 9865 genome.wustl.edu 37 7 28996305 28996305 + RNA SNP T T G TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 7 28996305 28996305 T G SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.282 - - - no_errors TRIL HGNC USP43 124739 genome.wustl.edu 37 17 9604465 9604465 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 9604465 9604465 C T SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.1565 p.A522V 0.980 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC TBC1D31 93594 genome.wustl.edu 37 8 124140520 124140521 + Frame_Shift_Ins INS - - T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 8 124140520 124140521 - T INS WDR67 ENST00000287380 human ensembl 70_37 +1 known frame_shift_ins c.1886_1885 p.H632fs 1.000:1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC WDR92 116143 genome.wustl.edu 37 2 68358570 68358570 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 68358570 68358570 G T SNP WDR92 ENST00000295121 human ensembl 70_37 -1 known missense c.874 p.P292T 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 WDR92 HGNC ZIC3 7547 genome.wustl.edu 37 X 136659320 136659320 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 136659320 136659320 G A SNP ZIC3 ENST00000370606 human ensembl 70_37 +1 known missense c.1264 p.D422N 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ZNF479 90827 genome.wustl.edu 37 7 57188264 57188264 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 7 57188264 57188264 G T SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known missense c.858 p.N286K 0.017 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 ZNF479 HGNC