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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF CD53 0 genome.wustl.edu 37 1 111441780 111441780 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 1 111441780 111441780 G T SNP CD53 ENST00000271324 human ensembl 74_37 +1 known missense c.623 p.C208F 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD53 HGNC ENSG00000143119 81 0 0 57 6 9.52381 MAGI3 0 genome.wustl.edu 37 1 114225853 114225853 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 1 114225853 114225853 G A SNP MAGI3 ENST00000307546 human ensembl 74_37 +1 novel silent c.3663 p.S1221 0.698 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 142 0 0 110 13 10.5691 PDE4DIP 0 genome.wustl.edu 37 1 144917576 144917576 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 1 144917576 144917576 G A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1528 p.R510C 0.238 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 737 2 0.270636 556 39 6.55462 DNAH14 0 genome.wustl.edu 37 1 225142780 225142780 + Missense_Mutation SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 1 225142780 225142780 T C SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.197 p.L66S 0.024 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 342 0 0 233 32 12.0755 EPHA8 0 genome.wustl.edu 37 1 22927491 22927491 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 1 22927491 22927491 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2639 p.A880V 0.994 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 118 0 0 53 7 11.6667 SIPA1L2 0 genome.wustl.edu 37 1 232650895 232650895 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 1 232650895 232650895 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.191 p.P64L 0.930 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 139 0 0 129 12 8.51064 OR2T12 0 genome.wustl.edu 37 1 248457935 248457935 + Missense_Mutation SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 1 248457935 248457935 C A SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.946 p.A316S 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 429 1 0.232558 289 30 9.40439 GJD4 0 genome.wustl.edu 37 10 35896709 35896709 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 10 35896709 35896709 G A SNP GJD4 ENST00000321660 human ensembl 74_37 +1 known missense c.268 p.A90T 0.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD4 HGNC ENSG00000177291 147 0 0 69 10 12.6582 MRPS16 0 genome.wustl.edu 37 10 75010581 75010581 + RNA SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 10 75010581 75010581 C T SNP MRPS16 ENST00000471251 human ensembl 74_37 -1 known rna NULL NULL 0.969 - - - no_errors MRPS16 HGNC ENSG00000182180 349 0 0 230 33 12.5475 OR51T1 0 genome.wustl.edu 37 11 4904053 4904053 + Silent SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 11 4904053 4904053 G T SNP OR51T1 ENST00000380378 human ensembl 74_37 +1 known silent c.1005 p.L335 0.131 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51T1 HGNC ENSG00000176900 179 0 0 113 10 8.13008 OR4D10 0 genome.wustl.edu 37 11 59245145 59245145 + Silent SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 11 59245145 59245145 T C SNP OR4D10 ENST00000530162 human ensembl 74_37 +1 known silent c.243 p.V81 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 329 0 0 240 72 23.0769 AKAP3 0 genome.wustl.edu 37 12 4736611 4736611 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 12 4736611 4736611 C T SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.1457 p.R486H 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 106 0 0 74 14 15.9091 BAZ2A 0 genome.wustl.edu 37 12 57005736 57005736 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 12 57005736 57005736 G T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.1436 p.A479E 0.972 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 42 0 0 22 7 24.1379 RASSF3 0 genome.wustl.edu 37 12 65085273 65085273 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 12 65085273 65085273 C T SNP RASSF3 ENST00000336061 human ensembl 74_37 +1 known missense c.481 p.R161W 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF3 HGNC ENSG00000153179 114 0 0 84 12 12.5 APOBEC1 0 genome.wustl.edu 37 12 7805130 7805130 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 12 7805130 7805130 C T SNP APOBEC1 ENST00000229304 human ensembl 74_37 -1 known missense c.346 p.V116I 0.005 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC ENSG00000111701 178 0 0 107 15 12.2951 NBEA 0 genome.wustl.edu 37 13 36046612 36046612 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 13 36046612 36046612 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6524 p.T2175M 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 78 0 0 53 9 14.5161 SIPA1L1 0 genome.wustl.edu 37 14 72139105 72139105 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 14 72139105 72139105 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.2870 p.R957Q 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 203 0 0 132 20 13.1579 SLC12A6 0 genome.wustl.edu 37 15 34528245 34528245 + Silent SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 15 34528245 34528245 T C SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known silent c.3171 p.E1057 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 316 0 0 207 35 14.4628 GJD2 0 genome.wustl.edu 37 15 35045227 35045227 + Nonsense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 15 35045227 35045227 G A SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known nonsense c.418 p.R140* 0.992 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 350 0 0 250 31 11.032 MYO9A 0 genome.wustl.edu 37 15 72227776 72227776 + Nonsense_Mutation SNP T T A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 15 72227776 72227776 T A SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known nonsense c.2428 p.R810* 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 168 0 0 145 15 9.375 ADAMTSL3 0 genome.wustl.edu 37 15 84690187 84690187 + Nonsense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 15 84690187 84690187 G A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known nonsense c.4299 p.W1433* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 276 0 0 190 20 9.52381 GRIN2A 0 genome.wustl.edu 37 16 10274134 10274134 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 16 10274134 10274134 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.135 p.D45 1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 105 1 0.943396 66 28 29.7872 FLYWCH2 0 genome.wustl.edu 37 16 2946611 2946611 + Missense_Mutation SNP T T G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 16 2946611 2946611 T G SNP FLYWCH2 ENST00000293981 human ensembl 74_37 +1 known missense c.161 p.V54G 0.154 NULL NULL - no_errors FLYWCH2 HGNC ENSG00000162076 138 0 0 87 14 13.8614 NOD2 0 genome.wustl.edu 37 16 50750497 50750497 + Splice_Site SNP G G C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 16 50750497 50750497 G C SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known splice_site c.2463-1 e5-1 1.000 - - - no_errors NOD2 HGNC ENSG00000167207 46 0 0 53 5 8.62069 IRX5 0 genome.wustl.edu 37 16 54967637 54967637 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 16 54967637 54967637 C T SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.1304 p.P435L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 100 0 0 78 9 10.3448 CHTF18 0 genome.wustl.edu 37 16 844151 844151 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 16 844151 844151 C T SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known missense c.2527 p.R843C 0.996 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 63 0 0 40 10 20 COX4I1 0 genome.wustl.edu 37 16 85839412 85839412 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 16 85839412 85839412 C T SNP COX4I1 ENST00000253452 human ensembl 74_37 +1 known silent c.315 p.G105 0.001 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I1 HGNC ENSG00000131143 119 0 0 71 5 6.57895 ALKBH5 0 genome.wustl.edu 37 17 18110185 18110185 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 18110185 18110185 C T SNP ALKBH5 ENST00000399138 human ensembl 74_37 +1 known missense c.908 p.P303L 1.000 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 596 0 0 439 34 7.18816 PIGS 0 genome.wustl.edu 37 17 26890883 26890883 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 26890883 26890883 C T SNP PIGS ENST00000308360 human ensembl 74_37 -1 known missense c.329 p.R110K 0.525 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 322 0 0 230 13 5.34979 LRRC37B 0 genome.wustl.edu 37 17 30349784 30349784 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 30349784 30349784 A G SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known missense c.1619 p.Q540R 0.055 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 289 0 0 174 51 22.6667 CAMTA2 0 genome.wustl.edu 37 17 4875783 4875783 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 4875783 4875783 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.2621 p.S874F 0.983 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 19 0 0 10 3 23.0769 ACE 0 genome.wustl.edu 37 17 61568741 61568741 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 61568741 61568741 C T SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.2911 p.R971W 1.000 pfam_Peptidase_M2,prints_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 96 0 0 69 24 25.8065 DLG4 0 genome.wustl.edu 37 17 7106879 7106879 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 7106879 7106879 C T SNP DLG4 ENST00000399510 human ensembl 74_37 -1 known silent c.498 p.V166 1.000 pirsf_M-assoc_guanylate_kinase,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG4 HGNC ENSG00000132535 87 0 0 49 11 18.3333 ARHGEF15 0 genome.wustl.edu 37 17 8216418 8216418 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 8216418 8216418 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known silent c.780 p.A260 0.079 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 96 0 0 66 9 12 ARHGEF15 0 genome.wustl.edu 37 17 8219149 8219149 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 8219149 8219149 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1498 p.A500T 0.972 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 102 0 0 65 8 10.9589 MYH10 0 genome.wustl.edu 37 17 8380351 8380351 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 8380351 8380351 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5692 p.A1898T 1.000 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 91 0 0 64 5 7.24638 FHOD3 0 genome.wustl.edu 37 18 34340614 34340614 + Missense_Mutation SNP C C G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 18 34340614 34340614 C G SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.3944 p.P1315R 0.997 smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 121 0 0 83 14 14.433 ZBTB14 0 genome.wustl.edu 37 18 5291265 5291265 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 18 5291265 5291265 G A SNP ZBTB14 ENST00000357006 human ensembl 74_37 -1 known silent c.942 p.F314 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB14 HGNC ENSG00000198081 138 0 0 106 7 6.19469 NFATC1 0 genome.wustl.edu 37 18 77246792 77246792 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 18 77246792 77246792 G A SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known silent c.2637 p.P879 0.134 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 71 0 0 48 5 9.43396 CYP4F2 0 genome.wustl.edu 37 19 15989736 15989736 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 15989736 15989736 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1408 p.G470R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 65 0 0 51 3 5.55556 TSHZ3 0 genome.wustl.edu 37 19 31769496 31769496 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 31769496 31769496 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.1203 p.L401 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 291 2 0.682594 283 25 8.11688 ZNF529 0 genome.wustl.edu 37 19 37039085 37039085 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 37039085 37039085 G T SNP ZNF529 ENST00000591340 human ensembl 74_37 -1 known missense c.375 p.S125R 0.298 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 ZNF529 HGNC ENSG00000186020 141 0 0 110 14 11.2903 ZNF229 0 genome.wustl.edu 37 19 44933774 44933774 + Silent SNP G G C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 44933774 44933774 G C SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known silent c.1182 p.V394 0.002 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 ZNF229 HGNC ENSG00000167383 246 0 0 173 42 19.5349 FEM1A 0 genome.wustl.edu 37 19 4793005 4793005 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 4793005 4793005 G A SNP FEM1A ENST00000269856 human ensembl 74_37 +1 known missense c.1139 p.R380H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 134 0 0 72 41 36.2832 KLK1 0 genome.wustl.edu 37 19 51322566 51322566 + Nonsense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 51322566 51322566 G A SNP KLK1 ENST00000301420 human ensembl 74_37 -1 known nonsense c.673 p.Q225* 0.994 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK1 HGNC ENSG00000167748 68 0 0 58 7 10.7692 ZNRF4 0 genome.wustl.edu 37 19 5456204 5456204 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 5456204 5456204 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known silent c.702 p.A234 0.742 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 97 0 0 52 12 18.75 C19orf18 0 genome.wustl.edu 37 19 58472857 58472857 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 58472857 58472857 G A SNP C19orf18 ENST00000314391 human ensembl 74_37 -1 known missense c.434 p.P145L 0.116 NULL NULL - no_errors C19orf18 HGNC ENSG00000177025 237 0 0 187 13 6.5 PRAM1 0 genome.wustl.edu 37 19 8564247 8564247 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 8564247 8564247 C T SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.445 p.G149S 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 45 0 0 51 4 7.27273 ZNF177 0 genome.wustl.edu 37 19 9492250 9492250 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 9492250 9492250 A G SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known missense c.1243 p.K415E 1.000 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 ZNF177 HGNC ENSG00000188629 295 0 0 262 22 7.74648 NFE2L2 0 genome.wustl.edu 37 2 178096690 178096690 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 2 178096690 178096690 G T SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.641 p.P214Q 0.168 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 199 0 0 161 21 11.5385 TTN 0 genome.wustl.edu 37 2 179426117 179426117 + Missense_Mutation SNP G G C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 2 179426117 179426117 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.77038 p.P25680A 0.922 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 445 0 0 332 28 7.77778 TTN 0 genome.wustl.edu 37 2 179581972 179581972 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 2 179581972 179581972 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.21757 p.R7253C 0.965 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 147 0 0 92 18 16.3636 PARD3B 0 genome.wustl.edu 37 2 205990415 205990415 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 2 205990415 205990415 C T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.1388 p.S463L 0.091 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 256 0 0 165 18 9.83607 SLC16A14 0 genome.wustl.edu 37 2 230910835 230910835 + Missense_Mutation SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 2 230910835 230910835 T C SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1007 p.H336R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 85 0 0 58 8 12.1212 TOMM34 0 genome.wustl.edu 37 20 43572151 43572151 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 20 43572151 43572151 C T SNP TOMM34 ENST00000372813 human ensembl 74_37 -1 known silent c.768 p.L256 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 243 0 0 213 32 13.0612 GRIK1 0 genome.wustl.edu 37 21 31045467 31045467 + Missense_Mutation SNP C C G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 21 31045467 31045467 C G SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.562 p.E188Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 148 0 0 93 20 17.6991 PLXNB2 0 genome.wustl.edu 37 22 50715103 50715103 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 22 50715103 50715103 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.5292 p.Q1764 0.996 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 132 0 0 92 10 9.80392 KALRN 0 genome.wustl.edu 37 3 124436117 124436117 + Missense_Mutation SNP A A T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 3 124436117 124436117 A T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8300 p.D2767V 1.000 pfam_Prot_kinase_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_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 234 0 0 170 26 13.2653 VEPH1 0 genome.wustl.edu 37 3 157188240 157188240 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 3 157188240 157188240 C T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.217 p.E73K 0.976 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 348 0 0 237 20 7.7821 SAMD7 0 genome.wustl.edu 37 3 169644391 169644391 + Missense_Mutation SNP T T A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 3 169644391 169644391 T A SNP SAMD7 ENST00000335556 human ensembl 74_37 +1 known missense c.341 p.I114N 0.479 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 157 0 0 100 16 13.7931 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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_dom,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 ENSG00000121879 107 0 0 88 10 10.2041 TRANK1 0 genome.wustl.edu 37 3 36896947 36896947 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 3 36896947 36896947 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.4134 p.S1378 0.115 pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 292 0 0 177 23 11.5 TLL1 0 genome.wustl.edu 37 4 167012436 167012436 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 4 167012436 167012436 C T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.2599 p.R867W 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 95 0 0 69 11 13.75 WDR19 0 genome.wustl.edu 37 4 39271702 39271702 + Missense_Mutation SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 4 39271702 39271702 C A SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3465 p.H1155Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 145 0 0 132 8 5.71429 HNRNPD 0 genome.wustl.edu 37 4 83278030 83278030 + Missense_Mutation SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 4 83278030 83278030 T C SNP HNRNPD ENST00000313899 human ensembl 74_37 -1 known missense c.772 p.M258V 1.000 pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPD HGNC ENSG00000138668 549 1 0.181818 422 63 12.9897 CDS1 0 genome.wustl.edu 37 4 85553014 85553014 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 4 85553014 85553014 G A SNP CDS1 ENST00000295887 human ensembl 74_37 +1 known missense c.623 p.R208H 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 411 1 0.242718 390 21 5.10949 PCDHA1 0 genome.wustl.edu 37 5 140166324 140166324 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 5 140166324 140166324 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.449 p.S150L 0.391 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 194 0 0 138 20 12.6582 PCDHA6 0 genome.wustl.edu 37 5 140208285 140208285 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 5 140208285 140208285 G T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.609 p.E203D 0.421 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 151 0 0 111 14 11.2 PCDHA8 0 genome.wustl.edu 37 5 140222835 140222835 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 5 140222835 140222835 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.1929 p.P643 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 163 1 0.609756 100 13 11.5044 PCDHGB2 0 genome.wustl.edu 37 5 140741004 140741004 + Silent SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 5 140741004 140741004 C A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.1302 p.S434 0.820 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 203 0 0 110 25 18.5185 NR3C1 0 genome.wustl.edu 37 5 142779330 142779330 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 5 142779330 142779330 C T SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known missense c.1075 p.V359I 1.000 pfam_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 269 1 0.37037 186 18 8.82353 SYNE1 0 genome.wustl.edu 37 6 152673313 152673313 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 6 152673313 152673313 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11429 p.T3810M 0.035 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 445 1 0.224215 333 39 10.4839 MUT 0 genome.wustl.edu 37 6 49415470 49415470 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 6 49415470 49415470 C T SNP MUT ENST00000274813 human ensembl 74_37 -1 known silent c.1473 p.K491 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 164 0 0 130 8 5.7971 KCNQ5 0 genome.wustl.edu 37 6 73904416 73904416 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 6 73904416 73904416 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2108 p.T703M 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 181 0 0 113 17 13.0769 COL12A1 0 genome.wustl.edu 37 6 75838110 75838110 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 6 75838110 75838110 A G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.6242 p.I2081T 0.352 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 159 0 0 138 11 7.38255 MACC1 0 genome.wustl.edu 37 7 20198241 20198241 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 7 20198241 20198241 G A SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known silent c.1743 p.L581 1.000 pfam_SH3_2 pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 465 0 0 305 39 11.3372 HOXA11 0 genome.wustl.edu 37 7 27224468 27224468 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 7 27224468 27224468 G A SNP HOXA11 ENST00000006015 human ensembl 74_37 -1 known missense c.296 p.A99V 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA11 HGNC ENSG00000005073 73 0 0 52 10 16.129 RAMP3 0 genome.wustl.edu 37 7 45222946 45222946 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 7 45222946 45222946 G A SNP RAMP3 ENST00000242249 human ensembl 74_37 +1 known missense c.382 p.V128I 0.004 pfam_RAMP pfam_RAMP - no_errors RAMP3 HGNC ENSG00000122679 306 0 0 187 18 8.78049 TMEM130 0 genome.wustl.edu 37 7 98460898 98460898 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 7 98460898 98460898 G A SNP TMEM130 ENST00000416379 human ensembl 74_37 -1 known missense c.211 p.R71C 1.000 NULL superfamily_PKD_dom,pfscan_PKD_dom - no_errors TMEM130 HGNC ENSG00000166448 46 0 0 24 7 22.5806 RIMS2 0 genome.wustl.edu 37 8 104898187 104898187 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 8 104898187 104898187 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1360 p.L454 0.717 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 159 0 0 108 13 10.7438 RNF139 0 genome.wustl.edu 37 8 125499249 125499249 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 8 125499249 125499249 C T SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known silent c.1359 p.L453 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 624 0 0 485 62 11.3346 ADAM18 0 genome.wustl.edu 37 8 39587447 39587447 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 8 39587447 39587447 C T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known silent c.2208 p.D736 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 180 0 0 142 13 8.3871 FAM78A 0 genome.wustl.edu 37 9 134151258 134151258 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 9 134151258 134151258 G A SNP FAM78A ENST00000372271 human ensembl 74_37 -1 known silent c.309 p.Y103 0.491 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 44 0 0 29 3 9.375 ZNF658 0 genome.wustl.edu 37 9 40784149 40784149 + Missense_Mutation SNP G G C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 9 40784149 40784149 G C SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.196 p.P66A 0.322 smart_Krueppel-associated_box,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 ZNF658 HGNC ENSG00000196409 95 0 0 57 7 10.9375 KIAA1432 0 genome.wustl.edu 37 9 5772699 5772699 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 9 5772699 5772699 A G SNP KIAA1432 ENST00000418622 human ensembl 74_37 +1 known missense c.3515 p.E1172G 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 103 0 0 76 11 12.6437 IDNK 0 genome.wustl.edu 37 9 86258434 86258434 + Missense_Mutation SNP A A C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 9 86258434 86258434 A C SNP IDNK ENST00000376417 human ensembl 74_37 +1 novel missense c.259 p.S87R 0.000 NULL pfam_Shikimate_kinase/TSH1,superfamily_P-loop_NTPase - no_errors IDNK HGNC ENSG00000148057 128 0 0 88 10 10.2041 CENPI 0 genome.wustl.edu 37 X 100417865 100417865 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 100417865 100417865 G A SNP CENPI ENST00000372927 human ensembl 74_37 +1 known missense c.2180 p.G727E 0.514 NULL pfam_CENP-I - no_errors CENPI HGNC ENSG00000102384 291 0 0 199 62 23.7548 ZMAT1 0 genome.wustl.edu 37 X 101139539 101139539 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 101139539 101139539 G A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.860 p.S287L 0.242 superfamily_Asn/Gln_tRNA_amidoTrfrase-rel superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 539 0 0 441 42 8.69565 TCEAL5 0 genome.wustl.edu 37 X 102529130 102529130 + Missense_Mutation SNP T T G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 102529130 102529130 T G SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known missense c.362 p.D121A 0.003 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 286 0 0 250 26 9.42029 ACTRT1 0 genome.wustl.edu 37 X 127185408 127185408 + Nonsense_Mutation SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 127185408 127185408 C A SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known nonsense c.778 p.E260* 0.987 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 398 0 0 266 73 21.5339 CXorf23 0 genome.wustl.edu 37 X 19973635 19973635 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 19973635 19973635 C T SNP CXorf23 ENST00000379687 human ensembl 74_37 -1 known missense c.1324 p.A442T 1.000 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 170 0 0 152 15 8.98204 FAM47B 0 genome.wustl.edu 37 X 34961131 34961131 + Silent SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 34961131 34961131 C A SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known silent c.183 p.A61 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 131 0 0 109 17 13.4921 NUDT10 0 genome.wustl.edu 37 X 51076257 51076257 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 51076257 51076257 G A SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known missense c.440 p.G147D 1.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 58 0 0 45 7 13.4615 HUWE1 0 genome.wustl.edu 37 X 53655786 53655786 + Missense_Mutation SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 53655786 53655786 C A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.1031 p.S344I 1.000 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_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 ENSG00000086758 108 0 0 115 14 10.8527 KIAA2022 0 genome.wustl.edu 37 X 73962731 73962731 + Missense_Mutation SNP A A C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 X 73962731 73962731 A C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.1661 p.M554R 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 267 0 0 227 27 10.6299 BIRC3 0 genome.wustl.edu 37 11 102195974 102195975 + Frame_Shift_Del DEL AC AC - TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 11 102195974 102195975 AC - DEL BIRC3 ENST00000263464 human ensembl 74_37 +1 known frame_shift_del c.734_735 p.T246fs 0.001:0.012 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 241 0 0 166 16 8.79121 TUBD1 0 genome.wustl.edu 37 17 57968199 57968201 + In_Frame_Del DEL CTC CTC - TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 17 57968199 57968201 CTC - DEL TUBD1 ENST00000325752 human ensembl 74_37 -1 known in_frame_del c.165_163 p.E55in_frame_del 0.975:0.976:0.919 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 340 0 0 278 26 8.55263 MAG 0 genome.wustl.edu 37 19 35786676 35786676 + Frame_Shift_Del DEL C C - TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 19 35786676 35786676 C - DEL MAG ENST00000392213 human ensembl 74_37 +1 known frame_shift_del c.207 p.P71fs 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 202 0 0 190 12 5.94059 ANKRD55 0 genome.wustl.edu 37 5 55407173 55407173 + Frame_Shift_Del DEL G G - TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 5 55407173 55407173 G - DEL ANKRD55 ENST00000341048 human ensembl 74_37 -1 known frame_shift_del c.1402 p.Q468fs 0.576 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 227 0 0 174 20 10.3093 UHRF1BP1 0 genome.wustl.edu 37 6 34827349 34827350 + Splice_Site INS - - T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 6 34827349 34827350 - T INS UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known splice_site_ins c.3215+1_3215+1 e14+1 1.000:1.000 - - - no_errors UHRF1BP1 HGNC ENSG00000065060 332 0 0 228 33 12.6437