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 DBT 0 genome.wustl.edu 37 1 100684199 100684199 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 100684199 100684199 G A SNP DBT ENST00000370132 human ensembl 74_37 -1 known silent c.538 p.L180 1.000 pfam_E3-bd,superfamily_E3-bd pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 175 0 0 86 33 27.7311 SLC16A1 0 genome.wustl.edu 37 1 113456781 113456781 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 113456781 113456781 A T SNP SLC16A1 ENST00000369626 human ensembl 74_37 -1 known missense c.1235 p.L412H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 89 0 0 49 10 16.9492 DENND2C 0 genome.wustl.edu 37 1 115130457 115130457 + Nonsense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 115130457 115130457 C A SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known nonsense c.2548 p.E850* 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 71 0 0 40 13 24.5283 NOTCH2 0 genome.wustl.edu 37 1 120480053 120480053 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 120480053 120480053 A C SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.3374 p.V1125G 0.014 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 51 0 0 27 19 41.3043 HNRNPCL1 0 genome.wustl.edu 37 1 12907401 12907401 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 12907401 12907401 C A SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.742 p.A248S 0.994 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 138 0 0 102 23 18.4 PDE4DIP 0 genome.wustl.edu 37 1 144882804 144882804 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 144882804 144882804 T A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.3215 p.E1072V 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 415 0 0 465 54 10.4046 POGZ 0 genome.wustl.edu 37 1 151378394 151378394 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 151378394 151378394 G A SNP POGZ ENST00000271715 human ensembl 74_37 -1 known silent c.3117 p.R1039 0.017 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 143 0 0 161 19 10.5556 TDRD10 0 genome.wustl.edu 37 1 154479756 154479756 + Silent SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 154479756 154479756 G C SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known silent c.42 p.L14 0.000 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 48 0 0 46 11 19.2982 FCRL5 0 genome.wustl.edu 37 1 157516861 157516861 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 157516861 157516861 C A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.179 p.R60L 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 108 0 0 130 19 12.7517 IFI16 0 genome.wustl.edu 37 1 158984584 158984584 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 158984584 158984584 A T SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.114 p.K38N 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 79 0 0 91 14 13.3333 SPEN 0 genome.wustl.edu 37 1 16261743 16261743 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 16261743 16261743 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.9008 p.S3003L 0.123 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 79 0 0 47 32 40.5063 RC3H1 0 genome.wustl.edu 37 1 173915728 173915728 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 173915728 173915728 T C SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known silent c.2847 p.S949 0.963 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 92 0 0 73 39 34.8214 RFWD2 0 genome.wustl.edu 37 1 176118177 176118177 + Nonsense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 176118177 176118177 C A SNP RFWD2 ENST00000367669 human ensembl 74_37 -1 known nonsense c.796 p.E266* 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 56 0 0 33 51 60.7143 BRINP2 0 genome.wustl.edu 37 1 177250236 177250236 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 177250236 177250236 G C SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1924 p.V642L 0.994 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 80 0 0 39 52 57.1429 UBR4 0 genome.wustl.edu 37 1 19436703 19436703 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 19436703 19436703 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.11992 p.L3998F 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 85 0 0 38 15 28.3019 CFH 0 genome.wustl.edu 37 1 196659341 196659341 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 196659341 196659341 G C SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1308 p.W436C 0.960 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 76 0 0 23 13 36.1111 NFASC 0 genome.wustl.edu 37 1 204945883 204945883 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 204945883 204945883 G C SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.1791 p.E597D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 191 0 0 107 44 29.1391 PINK1 0 genome.wustl.edu 37 1 20975025 20975025 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 20975025 20975025 A G SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.1151 p.D384G 0.996 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_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 - no_errors PINK1 HGNC ENSG00000158828 54 0 0 35 19 35.1852 ALPL 0 genome.wustl.edu 37 1 21904089 21904089 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 21904089 21904089 C A SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.1523 p.A508E 0.004 NULL pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 40 0 0 17 5 22.7273 LYPLAL1 0 genome.wustl.edu 37 1 219366473 219366473 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 219366473 219366473 T C SNP LYPLAL1 ENST00000366928 human ensembl 74_37 +1 known missense c.241 p.F81L 1.000 pfam_PLipase/COase/thioEstase,pfam_Esterase_put pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 55 0 0 43 13 23.2143 GUK1 0 genome.wustl.edu 37 1 228333735 228333735 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 228333735 228333735 A G SNP GUK1 ENST00000366722 human ensembl 74_37 +1 known missense c.121 p.R41G 0.974 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 81 0 0 46 36 43.9024 EPHA8 0 genome.wustl.edu 37 1 22903206 22903206 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 22903206 22903206 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.656 p.T219M 1.000 pirsf_Tyr_kinase_ephrin_rcpt 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 61 0 0 29 15 34.0909 TAF5L 0 genome.wustl.edu 37 1 229730770 229730770 + Silent SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 229730770 229730770 C G SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known silent c.1044 p.T348 0.008 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 127 0 0 71 36 33.6449 RBM34 0 genome.wustl.edu 37 1 235324532 235324532 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 235324532 235324532 C G SNP RBM34 ENST00000408888 human ensembl 74_37 -1 known missense c.10 p.E4Q 0.002 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 166 0 0 129 20 13.4228 ARID4B 0 genome.wustl.edu 37 1 235377164 235377164 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 235377164 235377164 C A SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.1761 p.M587I 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Tudor pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 175 0 0 84 76 47.5 LYST 0 genome.wustl.edu 37 1 235866229 235866229 + Nonsense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 235866229 235866229 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known nonsense c.10192 p.R3398* 0.992 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 213 0 0 153 52 25.3659 CEP170 0 genome.wustl.edu 37 1 243289777 243289777 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 243289777 243289777 C T SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.4729 p.E1577K 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 16 0 0 13 4 23.5294 MYOM3 0 genome.wustl.edu 37 1 24409198 24409198 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 24409198 24409198 T C SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.1980 p.T660 0.016 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 73 0 0 25 14 35.8974 MYOM3 0 genome.wustl.edu 37 1 24433597 24433597 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 24433597 24433597 C T SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.371 p.R124H 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 23 0 0 17 6 26.087 CSMD2 0 genome.wustl.edu 37 1 34052731 34052731 + Silent SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 34052731 34052731 G T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.6894 p.L2298 0.985 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 15 0 0 11 3 21.4286 BMP8B 0 genome.wustl.edu 37 1 40230409 40230409 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 40230409 40230409 A G SNP BMP8B ENST00000372827 human ensembl 74_37 -1 known missense c.754 p.F252L 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8B HGNC ENSG00000116985 90 0 0 83 33 28.4483 RAVER2 0 genome.wustl.edu 37 1 65247062 65247062 + Splice_Site SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 65247062 65247062 G C SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known splice_site c.787-1 e4-1 1.000 - - - no_errors RAVER2 HGNC ENSG00000162437 112 0 0 62 36 36.7347 DIRAS3 0 genome.wustl.edu 37 1 68512430 68512430 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 68512430 68512430 G C SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known missense c.551 p.T184S 0.001 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 132 0 0 64 61 48.8 WLS 0 genome.wustl.edu 37 1 68616029 68616029 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 68616029 68616029 C T SNP WLS ENST00000540432 human ensembl 74_37 -1 known missense c.814 p.A272T 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 112 0 0 81 27 25 NOC2L 0 genome.wustl.edu 37 1 883896 883896 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 883896 883896 C T SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.1531 p.V511I 0.323 pfam_Noc2,superfamily_ARM-type_fold pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 74 0 0 30 19 38.7755 SPSB1 0 genome.wustl.edu 37 1 9416346 9416346 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 9416346 9416346 C T SNP SPSB1 ENST00000328089 human ensembl 74_37 +1 known silent c.396 p.L132 0.387 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 74 0 0 49 5 9.25926 CUTC 0 genome.wustl.edu 37 10 101502973 101502973 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 101502973 101502973 G A SNP CUTC ENST00000370476 human ensembl 74_37 +1 known missense c.257 p.G86E 1.000 pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom - no_errors CUTC HGNC ENSG00000119929 190 0 0 46 47 50.5376 NEURL 0 genome.wustl.edu 37 10 105349314 105349314 + Nonsense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 105349314 105349314 C A SNP NEURL ENST00000369780 human ensembl 74_37 +1 known nonsense c.1383 p.C461* 1.000 NULL pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 95 0 0 26 44 62.8571 HSPA12A 0 genome.wustl.edu 37 10 118434408 118434408 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 118434408 118434408 C T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.1912 p.A638T 0.018 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 96 0 0 49 40 44.9438 PDZD8 0 genome.wustl.edu 37 10 119043502 119043502 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 119043502 119043502 T G SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.2742 p.L914F 0.029 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 78 0 0 51 11 17.7419 TACC2 0 genome.wustl.edu 37 10 123845760 123845760 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 123845760 123845760 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.3745 p.E1249K 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 199 0 0 182 84 31.5789 ALOX5 0 genome.wustl.edu 37 10 45938620 45938620 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 45938620 45938620 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known silent c.1407 p.Y469 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 334 1 0.298507 234 49 17.3145 SLC16A9 0 genome.wustl.edu 37 10 61432609 61432609 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 61432609 61432609 A C SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known missense c.259 p.F87V 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 SLC16A9 HGNC ENSG00000165449 71 0 0 53 10 15.873 RHOBTB1 0 genome.wustl.edu 37 10 62631340 62631340 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 62631340 62631340 T G SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.1991 p.Q664P 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 49 0 0 30 22 42.3077 DNA2 0 genome.wustl.edu 37 10 70231547 70231547 + Splice_Site SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 70231547 70231547 C G SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known splice_site c.332+1 e1+1 0.956 - - - no_errors DNA2 HGNC ENSG00000138346 29 0 0 19 6 24 CHST3 0 genome.wustl.edu 37 10 73767623 73767623 + Silent SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 73767623 73767623 G T SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known silent c.834 p.R278 0.542 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 20 0 0 14 8 36.3636 PDLIM1 0 genome.wustl.edu 37 10 97023630 97023630 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 10 97023630 97023630 T C SNP PDLIM1 ENST00000329399 human ensembl 74_37 -1 known missense c.524 p.N175S 0.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM1 HGNC ENSG00000107438 71 0 0 20 3 13.0435 CWF19L2 0 genome.wustl.edu 37 11 107197652 107197652 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 107197652 107197652 T A SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.2669 p.K890I 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 50 0 0 44 14 24.1379 BTG4 0 genome.wustl.edu 37 11 111366030 111366030 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 111366030 111366030 A C SNP BTG4 ENST00000356018 human ensembl 74_37 -1 known missense c.520 p.L174V 0.025 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC ENSG00000137707 90 0 0 73 18 19.7802 FDXACB1 0 genome.wustl.edu 37 11 111749799 111749799 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 111749799 111749799 G A SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known silent c.58 p.L20 0.989 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 52 0 0 58 13 18.3099 APOA5 0 genome.wustl.edu 37 11 116661139 116661139 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 116661139 116661139 C A SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known missense c.806 p.G269V 0.000 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 80 0 0 68 59 46.4567 TECTA 0 genome.wustl.edu 37 11 120998579 120998579 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 120998579 120998579 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.1893 p.C631 0.927 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 103 0 0 56 36 39.1304 BSX 0 genome.wustl.edu 37 11 122848402 122848402 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 122848402 122848402 G A SNP BSX ENST00000343035 human ensembl 74_37 -1 known silent c.657 p.D219 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 62 0 0 50 31 38.2716 OR6M1 0 genome.wustl.edu 37 11 123676812 123676812 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 123676812 123676812 G A SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known silent c.246 p.C82 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 94 0 0 84 47 35.8779 ACRV1 0 genome.wustl.edu 37 11 125547724 125547724 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 125547724 125547724 G A SNP ACRV1 ENST00000533904 human ensembl 74_37 -1 known missense c.521 p.A174V 0.003 NULL NULL - no_errors ACRV1 HGNC ENSG00000134940 105 1 0.943396 28 91 76.4706 PAMR1 0 genome.wustl.edu 37 11 35492330 35492330 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 35492330 35492330 G A SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known silent c.531 p.C177 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 49 0 0 15 22 59.4595 CRY2 0 genome.wustl.edu 37 11 45891339 45891339 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 45891339 45891339 C T SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known missense c.1228 p.L410F 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 61 0 0 55 25 31.25 MAPK8IP1 0 genome.wustl.edu 37 11 45926588 45926588 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 45926588 45926588 A C SNP MAPK8IP1 ENST00000241014 human ensembl 74_37 +1 known missense c.1960 p.N654H 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 84 0 0 56 33 37.0787 ATG13 0 genome.wustl.edu 37 11 46671862 46671862 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 46671862 46671862 A C SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known missense c.453 p.L151F 0.653 pfam_Autophagy-rel_p13 pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 136 0 0 102 71 41.0405 OR5M8 0 genome.wustl.edu 37 11 56257957 56257957 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 56257957 56257957 T A SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.890 p.K297I 0.841 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 53 0 0 40 5 11.1111 ZDHHC5 0 genome.wustl.edu 37 11 57457633 57457633 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 57457633 57457633 T A SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.515 p.L172H 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 138 0 0 103 43 29.4521 OR5A1 0 genome.wustl.edu 37 11 59210971 59210971 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 59210971 59210971 G A SNP OR5A1 ENST00000302030 human ensembl 74_37 +1 known missense c.330 p.M110I 0.002 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5A1 HGNC ENSG00000172320 250 0 0 196 46 19.0083 SLC22A9 0 genome.wustl.edu 37 11 63141464 63141464 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 63141464 63141464 G C SNP SLC22A9 ENST00000279178 human ensembl 74_37 +1 known missense c.760 p.A254P 0.457 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 44 0 0 48 11 18.6441 SUV420H1 0 genome.wustl.edu 37 11 67947642 67947642 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 67947642 67947642 G T SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.334 p.H112N 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 19 0 0 14 3 17.6471 CPT1A 0 genome.wustl.edu 37 11 68582853 68582853 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 68582853 68582853 T A SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.90 p.Q30H 0.986 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 58 0 0 60 16 21.0526 WNT11 0 genome.wustl.edu 37 11 75898212 75898212 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 11 75898212 75898212 T C SNP WNT11 ENST00000322563 human ensembl 74_37 -1 known missense c.962 p.Y321C 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 80 0 0 58 39 40.2062 PTPN11 0 genome.wustl.edu 37 12 112892407 112892407 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 112892407 112892407 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.565 p.S189A 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 70 0 0 41 3 6.81818 CACNA1C 0 genome.wustl.edu 37 12 2795345 2795345 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 2795345 2795345 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.5907 p.S1969 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 151 0 0 117 50 29.9401 IQSEC3 0 genome.wustl.edu 37 12 280291 280291 + Silent SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 280291 280291 C G SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known silent c.3078 p.A1026 0.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 89 0 0 62 37 37.3737 IPO8 0 genome.wustl.edu 37 12 30834694 30834694 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 30834694 30834694 C T SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known nonsense c.381 p.W127* 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 58 0 0 15 22 59.4595 DDX23 0 genome.wustl.edu 37 12 49226289 49226289 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 49226289 49226289 G C SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.1871 p.P624R 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 71 0 0 16 44 73.3333 KRT73 0 genome.wustl.edu 37 12 53007514 53007514 + Silent SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 53007514 53007514 G C SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known silent c.942 p.A314 0.030 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 100 0 0 27 41 60.2941 ENSG00000258260 0 genome.wustl.edu 37 12 56663858 56663858 + RNA SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 56663858 56663858 A T SNP ENSG00000258260 ENST00000546464 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-977G19.14 Clone_based_vega_gene ENSG00000258260 67 0 0 11 29 72.5 TPH2 0 genome.wustl.edu 37 12 72425323 72425323 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 72425323 72425323 C T SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.1321 p.R441C 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 58 0 0 29 32 52.459 KCNC2 0 genome.wustl.edu 37 12 75444690 75444690 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 75444690 75444690 A T SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.1095 p.F365L 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 69 0 0 54 14 20.5882 ACSS3 0 genome.wustl.edu 37 12 81647273 81647273 + Splice_Site SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 81647273 81647273 G C SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known splice_site c.1820-1 e15-1 1.000 - - - no_errors ACSS3 HGNC ENSG00000111058 89 0 0 66 27 29.0323 ZNF705A 0 genome.wustl.edu 37 12 8329733 8329733 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 8329733 8329733 C A SNP ZNF705A ENST00000359286 human ensembl 74_37 +1 known missense c.457 p.L153I 0.015 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705A HGNC ENSG00000196946 238 0 0 53 89 62.6761 ENSG00000258177 0 genome.wustl.edu 37 12 96617557 96617557 + RNA SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 12 96617557 96617557 C T SNP ENSG00000258177 ENST00000551844 human ensembl 74_37 -1 known rna NULL NULL 0.077 - - - no_errors RP11-394J1.2 Clone_based_vega_gene ENSG00000258177 35 0 0 7 16 69.5652 TNFSF13B 0 genome.wustl.edu 37 13 108922355 108922355 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 13 108922355 108922355 T G SNP TNFSF13B ENST00000375887 human ensembl 74_37 +1 known missense c.112 p.S38A 0.909 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors TNFSF13B HGNC ENSG00000102524 284 0 0 401 43 9.68468 PCID2 0 genome.wustl.edu 37 13 113834471 113834471 + Splice_Site SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 13 113834471 113834471 C A SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known splice_site c.1022+1 e11+1 1.000 - - - no_errors PCID2 HGNC ENSG00000126226 109 0 0 116 84 42 DIAPH3 0 genome.wustl.edu 37 13 60545039 60545039 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 13 60545039 60545039 G C SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.1906 p.P636A 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 71 0 0 101 16 13.6752 TBC1D4 0 genome.wustl.edu 37 13 76055753 76055753 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 13 76055753 76055753 T C SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.151 p.T51A 1.000 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 32 0 0 18 8 30.7692 SLITRK6 0 genome.wustl.edu 37 13 86370114 86370114 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 13 86370114 86370114 G A SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.530 p.P177L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 162 0 0 124 66 34.7368 TRMT61A 0 genome.wustl.edu 37 14 103996627 103996627 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 103996627 103996627 C A SNP TRMT61A ENST00000389749 human ensembl 74_37 +1 known silent c.312 p.G104 0.997 pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14 pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14 - no_errors TRMT61A HGNC ENSG00000166166 79 0 0 52 16 23.5294 C14orf80 0 genome.wustl.edu 37 14 105960171 105960171 + Splice_Site SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 105960171 105960171 G C SNP C14orf80 ENST00000392523 human ensembl 74_37 +1 known splice_site c.586-1 e5-1 0.708 - - - no_errors C14orf80 HGNC ENSG00000185347 35 0 0 19 12 38.7097 ENSG00000244306 0 genome.wustl.edu 37 14 19856910 19856910 + RNA SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 19856910 19856910 T C SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 47 0 0 36 13 26.5306 NPAS3 0 genome.wustl.edu 37 14 34269574 34269574 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 34269574 34269574 C A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.2061 p.S687R 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 100 1 0.990099 83 21 20.1923 GEMIN2 0 genome.wustl.edu 37 14 39583510 39583510 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 39583510 39583510 A T SNP GEMIN2 ENST00000308317 human ensembl 74_37 +1 known missense c.1 p.M1L 0.819 NULL pirsf_GEMIN2_metazoa - no_errors GEMIN2 HGNC ENSG00000092208 33 0 0 21 6 22.2222 RTN1 0 genome.wustl.edu 37 14 60213055 60213055 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 60213055 60213055 T C SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.386 p.K129R 0.998 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 57 0 0 29 12 29.2683 ACYP1 0 genome.wustl.edu 37 14 75520211 75520211 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 75520211 75520211 G A SNP ACYP1 ENST00000238618 human ensembl 74_37 -1 known missense c.236 p.A79V 1.000 pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase - no_errors ACYP1 HGNC ENSG00000119640 151 1 0.657895 61 29 32.2222 CCDC88C 0 genome.wustl.edu 37 14 91791123 91791123 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 91791123 91791123 C A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.1342 p.A448S 0.995 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 117 0 0 50 26 34.2105 BTBD7 0 genome.wustl.edu 37 14 93755041 93755041 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 93755041 93755041 A C SNP BTBD7 ENST00000298896 human ensembl 74_37 -1 known missense c.1175 p.V392G 0.066 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 94 0 0 50 16 24.2424 ATG2B 0 genome.wustl.edu 37 14 96798640 96798640 + Splice_Site SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 96798640 96798640 A T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known splice_site c.1468+2 e10+2 1.000 - - - no_errors ATG2B HGNC ENSG00000066739 91 0 0 47 23 32.8571 DNM1P47 0 genome.wustl.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 102304772 102304772 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors DNM1P47 HGNC ENSG00000259660 32 0 0 30 6 16.6667 OR4N4 0 genome.wustl.edu 37 15 22382673 22382673 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 22382673 22382673 C A SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known silent c.201 p.A67 0.980 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 402 0 0 271 38 12.2977 CSNK1A1P1 0 genome.wustl.edu 37 15 37110170 37110170 + RNA SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 37110170 37110170 G C SNP CSNK1A1P1 ENST00000430593 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CSNK1A1P1 HGNC ENSG00000223518 61 0 0 47 7 12.963 EXD1 0 genome.wustl.edu 37 15 41482139 41482139 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 41482139 41482139 G A SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.878 p.T293I 0.001 superfamily_RNaseH-like_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 128 0 0 37 55 59.7826 SPTBN5 0 genome.wustl.edu 37 15 42171635 42171635 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 42171635 42171635 A G SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.3005 p.V1002A 0.189 NULL pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 23 0 0 5 9 64.2857 CCNDBP1 0 genome.wustl.edu 37 15 43483628 43483628 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 43483628 43483628 G T SNP CCNDBP1 ENST00000300213 human ensembl 74_37 +1 known missense c.615 p.L205F 1.000 NULL NULL - no_errors CCNDBP1 HGNC ENSG00000166946 89 0 0 23 37 61.6667 TGM7 0 genome.wustl.edu 37 15 43572086 43572086 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 43572086 43572086 G C SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.1415 p.A472G 0.035 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 143 0 0 50 52 50.9804 STRC 0 genome.wustl.edu 37 15 43892850 43892850 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 43892850 43892850 A T SNP STRC ENST00000450892 human ensembl 74_37 -1 known missense c.4875 p.H1625Q 0.988 NULL NULL - no_errors STRC HGNC ENSG00000242866 113 0 0 44 13 22.807 CYP19A1 0 genome.wustl.edu 37 15 51529166 51529166 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 51529166 51529166 G A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known silent c.186 p.H62 0.010 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 72 0 0 57 48 45.7143 ALDH1A2 0 genome.wustl.edu 37 15 58306438 58306438 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 58306438 58306438 T C SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known silent c.159 p.R53 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 121 0 0 77 47 37.9032 DAPK2 0 genome.wustl.edu 37 15 64200767 64200767 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 64200767 64200767 G A SNP DAPK2 ENST00000261891 human ensembl 74_37 -1 known silent c.1065 p.I355 0.720 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 11 0 0 10 9 47.3684 LARP6 0 genome.wustl.edu 37 15 71124440 71124440 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 71124440 71124440 T G SNP LARP6 ENST00000299213 human ensembl 74_37 -1 known missense c.1427 p.D476A 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 213 0 0 78 32 29.0909 PKM 0 genome.wustl.edu 37 15 72499084 72499084 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 72499084 72499084 C T SNP PKM ENST00000319622 human ensembl 74_37 -1 known silent c.1125 p.V375 0.072 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 76 0 0 25 42 62.6866 CPLX3 0 genome.wustl.edu 37 15 75122677 75122677 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 75122677 75122677 G T SNP CPLX3 ENST00000395018 human ensembl 74_37 +1 known missense c.459 p.E153D 1.000 NULL pfam_Synaphin - no_errors CPLX3 HGNC ENSG00000213578 49 0 0 25 6 19.3548 TICRR 0 genome.wustl.edu 37 15 90119124 90119124 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 15 90119124 90119124 G A SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.307 p.A103T 0.287 NULL NULL - no_errors TICRR HGNC ENSG00000140534 14 0 0 15 2 11.7647 BAIAP3 0 genome.wustl.edu 37 16 1395887 1395887 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 16 1395887 1395887 G T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.2309 p.G770V 0.996 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 13 0 0 10 4 28.5714 STX4 0 genome.wustl.edu 37 16 31049878 31049878 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 16 31049878 31049878 G A SNP STX4 ENST00000313843 human ensembl 74_37 +1 known silent c.612 p.S204 0.166 superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX4 HGNC ENSG00000103496 72 0 0 13 34 72.3404 CHTF8 0 genome.wustl.edu 37 16 69154257 69154257 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 16 69154257 69154257 C T SNP CHTF8 ENST00000306585 human ensembl 74_37 -1 known silent c.75 p.R25 0.907 NULL NULL - no_errors CHTF8 HGNC ENSG00000168802 24 0 0 8 8 50 MARVELD3 0 genome.wustl.edu 37 16 71668441 71668441 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 16 71668441 71668441 C A SNP MARVELD3 ENST00000268485 human ensembl 74_37 +1 known missense c.941 p.A314E 0.128 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 74 0 0 19 30 61.2245 USP32P1 0 genome.wustl.edu 37 17 16705670 16705670 + RNA SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 16705670 16705670 G T SNP USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors USP32P1 HGNC ENSG00000188933 60 0 0 36 27 42.8571 EVPLL 0 genome.wustl.edu 37 17 18284926 18284926 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 18284926 18284926 G A SNP EVPLL ENST00000399134 human ensembl 74_37 +1 novel silent c.228 p.Q76 0.960 NULL NULL - no_errors EVPLL HGNC ENSG00000214860 49 0 0 44 15 25.4237 EVPLL 0 genome.wustl.edu 37 17 18284928 18284928 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 18284928 18284928 T C SNP EVPLL ENST00000399134 human ensembl 74_37 +1 novel missense c.230 p.L77P 0.998 NULL NULL - no_errors EVPLL HGNC ENSG00000214860 48 0 0 45 14 23.7288 SLC6A4 0 genome.wustl.edu 37 17 28537594 28537594 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 28537594 28537594 T C SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known missense c.1388 p.E463G 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 135 0 0 92 26 22.0339 MSL1 0 genome.wustl.edu 37 17 38282661 38282661 + Splice_Site SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 38282661 38282661 T A SNP MSL1 ENST00000398532 human ensembl 74_37 +1 known splice_site c.992+2 e2+2 1.000 - - - no_errors MSL1 HGNC ENSG00000188895 39 0 0 18 8 30.7692 ATP2A3 0 genome.wustl.edu 37 17 3839595 3839595 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 3839595 3839595 A C SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.2490 p.S830R 0.988 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 106 0 0 52 33 38.8235 TNS4 0 genome.wustl.edu 37 17 38645216 38645216 + Nonsense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 38645216 38645216 T A SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known nonsense c.445 p.K149* 1.000 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 93 0 0 33 43 56.5789 KRT9 0 genome.wustl.edu 37 17 39728197 39728197 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 39728197 39728197 C T SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known silent c.48 p.G16 0.005 NULL pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 17 0 0 2 8 80 RUNDC3A 0 genome.wustl.edu 37 17 42392111 42392111 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 42392111 42392111 A G SNP RUNDC3A ENST00000426726 human ensembl 74_37 +1 known missense c.467 p.Y156C 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 52 0 0 53 6 10.1695 HIGD1B 0 genome.wustl.edu 37 17 42926756 42926756 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 42926756 42926756 G C SNP HIGD1B ENST00000253410 human ensembl 74_37 +1 known missense c.235 p.G79R 0.999 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD1B HGNC ENSG00000131097 70 0 0 39 25 39.0625 KIF18B 0 genome.wustl.edu 37 17 43005443 43005443 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 43005443 43005443 C G SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.2236 p.D746H 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 22 0 0 38 5 11.6279 SPNS2 0 genome.wustl.edu 37 17 4416589 4416589 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 4416589 4416589 G A SNP SPNS2 ENST00000329078 human ensembl 74_37 +1 known missense c.418 p.A140T 0.927 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 106 0 0 17 64 79.0123 CDC27 0 genome.wustl.edu 37 17 45249321 45249321 + Nonsense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 45249321 45249321 G T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known nonsense c.213 p.C71* 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 31 0 0 50 4 7.40741 CDC27 0 genome.wustl.edu 37 17 45259002 45259002 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 45259002 45259002 G T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.29 p.A10D 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 25 0 0 38 3 7.31707 UTP18 0 genome.wustl.edu 37 17 49354532 49354532 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 49354532 49354532 G C SNP UTP18 ENST00000225298 human ensembl 74_37 +1 known missense c.879 p.L293F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP18 HGNC ENSG00000011260 87 0 0 70 30 30 KIF2B 0 genome.wustl.edu 37 17 51900950 51900950 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 51900950 51900950 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.556 p.E186K 0.950 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 123 1 0.806452 89 67 42.9487 NLRP1 0 genome.wustl.edu 37 17 5442791 5442791 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 5442791 5442791 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.2814 p.G938 0.013 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 53 0 0 27 6 18.1818 HEATR6 0 genome.wustl.edu 37 17 58123518 58123518 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 58123518 58123518 T G SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.2842 p.T948P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 96 0 0 100 32 24.2424 DDX5 0 genome.wustl.edu 37 17 62496077 62496077 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 62496077 62496077 C T SNP DDX5 ENST00000225792 human ensembl 74_37 -1 known missense c.1809 p.M603I 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 52 0 0 52 18 25.7143 AXIN2 0 genome.wustl.edu 37 17 63554148 63554148 + Silent SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 63554148 63554148 G C SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known silent c.591 p.L197 0.999 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 85 0 0 80 39 32.7731 BPTF 0 genome.wustl.edu 37 17 65862627 65862627 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 65862627 65862627 G C SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.1484 p.S495T 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 144 0 0 66 60 47.619 LINC00674 0 genome.wustl.edu 37 17 66110573 66110573 + RNA SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 66110573 66110573 G T SNP LINC00674 ENST00000435469 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00674 HGNC ENSG00000237854 25 0 0 12 18 60 ABCA8 0 genome.wustl.edu 37 17 66929370 66929370 + Nonsense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 66929370 66929370 G C SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known nonsense c.509 p.S170* 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 151 0 0 135 30 18.1818 AZI1 0 genome.wustl.edu 37 17 79180992 79180992 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 79180992 79180992 C G SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.320 p.S107T 0.000 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 74 0 0 38 45 54.2169 SLC38A10 0 genome.wustl.edu 37 17 79226981 79226981 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 79226981 79226981 C G SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.1348 p.E450Q 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 124 0 0 71 68 48.9209 ZNF271 0 genome.wustl.edu 37 18 32887361 32887361 + RNA SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 18 32887361 32887361 G T SNP ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.939 - - - no_errors ZNF271 HGNC ENSG00000257267 91 0 0 80 5 5.88235 SMAD7 0 genome.wustl.edu 37 18 46476217 46476217 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 18 46476217 46476217 C T SNP SMAD7 ENST00000262158 human ensembl 74_37 -1 known missense c.578 p.C193Y 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD7 HGNC ENSG00000101665 33 0 0 35 5 12.5 EPB41L3 0 genome.wustl.edu 37 18 5630549 5630549 + RNA SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 18 5630549 5630549 G T SNP EPB41L3 ENST00000578431 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors EPB41L3 HGNC ENSG00000082397 62 0 0 14 27 65.8537 ANGPTL6 0 genome.wustl.edu 37 19 10205482 10205482 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 10205482 10205482 C A SNP ANGPTL6 ENST00000253109 human ensembl 74_37 -1 known missense c.715 p.A239S 0.054 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL6 HGNC ENSG00000130812 142 0 0 111 69 38.3333 DNM2 0 genome.wustl.edu 37 19 10893683 10893683 + Nonsense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 10893683 10893683 A T SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known nonsense c.736 p.K246* 1.000 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 78 0 0 55 26 32.0988 MAST1 0 genome.wustl.edu 37 19 12984515 12984515 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 12984515 12984515 G C SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.3544 p.G1182R 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 22 0 0 19 9 32.1429 CACNA1A 0 genome.wustl.edu 37 19 13418938 13418938 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 13418938 13418938 C A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.1909 p.G637C 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 65 0 0 36 16 30.7692 AKAP8 0 genome.wustl.edu 37 19 15484654 15484654 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 15484654 15484654 T C SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.314 p.K105R 1.000 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 39 0 0 38 20 34.4828 CYP4F3 0 genome.wustl.edu 37 19 15769193 15769193 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 15769193 15769193 G T SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.1235 p.R412L 0.732 pfam_Cyt_P450,superfamily_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 CYP4F3 HGNC ENSG00000186529 123 0 0 81 57 41.3043 ZNF93 0 genome.wustl.edu 37 19 20045443 20045443 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 20045443 20045443 C A SNP ZNF93 ENST00000343769 human ensembl 74_37 +1 known missense c.1679 p.T560N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF93 HGNC ENSG00000184635 42 0 0 26 21 44.6809 ZNF626 0 genome.wustl.edu 37 19 20808345 20808345 + Nonsense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 20808345 20808345 A T SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known nonsense c.338 p.L113* 0.005 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 ZNF626 HGNC ENSG00000188171 119 0 0 77 17 18.0851 ZNF536 0 genome.wustl.edu 37 19 31039034 31039034 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 31039034 31039034 C A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2508 p.D836E 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 142 1 0.699301 101 44 30.3448 LRP3 0 genome.wustl.edu 37 19 33698246 33698246 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 33698246 33698246 G T SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known missense c.2078 p.C693F 0.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 13 0 0 9 10 52.6316 RYR1 0 genome.wustl.edu 37 19 39062794 39062794 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 39062794 39062794 A T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.13882 p.M4628L 1.000 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 156 0 0 117 51 30.3571 DAPK3 0 genome.wustl.edu 37 19 3969677 3969677 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 3969677 3969677 C T SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known silent c.57 p.L19 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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 67 0 0 27 32 54.2373 FCGBP 0 genome.wustl.edu 37 19 40380324 40380324 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 40380324 40380324 G T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.10991 p.T3664N 1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 66 0 0 33 7 17.5 AXL 0 genome.wustl.edu 37 19 41765531 41765531 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 41765531 41765531 T G SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.2407 p.L803V 1.000 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 73 0 0 54 28 34.1463 FBXO46 0 genome.wustl.edu 37 19 46215449 46215449 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 46215449 46215449 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1305 p.D435 0.000 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 19 0 0 11 8 42.1053 STRN4 0 genome.wustl.edu 37 19 47230796 47230796 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 47230796 47230796 G A SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known silent c.1182 p.F394 1.000 NULL pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 41 0 0 34 10 22.7273 GLTSCR1 0 genome.wustl.edu 37 19 48185352 48185352 + Silent SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 48185352 48185352 A T SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known silent c.2226 p.G742 1.000 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 10 0 0 3 4 57.1429 ALDH16A1 0 genome.wustl.edu 37 19 49965151 49965151 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 49965151 49965151 C A SNP ALDH16A1 ENST00000293350 human ensembl 74_37 +1 known missense c.770 p.A257D 0.172 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 10 0 0 9 8 47.0588 PRR12 0 genome.wustl.edu 37 19 50098928 50098928 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 50098928 50098928 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.1336 p.G446S 0.928 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 28 0 0 28 14 33.3333 MADCAM1 0 genome.wustl.edu 37 19 501762 501762 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 501762 501762 A C SNP MADCAM1 ENST00000215637 human ensembl 74_37 +1 known missense c.761 p.Q254P 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 20 0 0 7 6 46.1538 PTPRS 0 genome.wustl.edu 37 19 5212247 5212247 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 5212247 5212247 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4787 p.R1596H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 110 0 0 59 19 24.359 PRKCG 0 genome.wustl.edu 37 19 54394966 54394966 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 54394966 54394966 G C SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.568 p.G190R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,prints_C2_dom,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 160 0 0 51 83 61.9403 NLRP8 0 genome.wustl.edu 37 19 56466661 56466661 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 56466661 56466661 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1237 p.G413R 0.021 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 111 0 0 50 17 25.3731 NLRP5 0 genome.wustl.edu 37 19 56539240 56539240 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 56539240 56539240 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.1641 p.D547 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 34 0 0 17 4 19.0476 ZNF530 0 genome.wustl.edu 37 19 58115657 58115657 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 58115657 58115657 G A SNP ZNF530 ENST00000332854 human ensembl 74_37 +1 known missense c.43 p.A15T 0.005 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,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 ZNF530 HGNC ENSG00000183647 133 0 0 66 26 28.2609 FBN3 0 genome.wustl.edu 37 19 8203127 8203127 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 19 8203127 8203127 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.1099 p.G367R 0.002 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 37 0 0 6 16 72.7273 RGPD4 0 genome.wustl.edu 37 2 108488641 108488641 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 108488641 108488641 G A SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.4181 p.R1394H 0.991 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 322 0 0 288 39 11.9266 CCDC138 0 genome.wustl.edu 37 2 109432434 109432434 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 109432434 109432434 T A SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.1079 p.V360D 1.000 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 84 0 0 79 22 21.7822 BUB1 0 genome.wustl.edu 37 2 111408206 111408206 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 111408206 111408206 A C SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.2120 p.I707S 0.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 54 0 0 28 19 40.4255 GREB1 0 genome.wustl.edu 37 2 11716623 11716623 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 11716623 11716623 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.599 p.T200I 0.076 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 127 0 0 111 28 20.1439 RBM43 0 genome.wustl.edu 37 2 152108058 152108058 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 152108058 152108058 G C SNP RBM43 ENST00000331426 human ensembl 74_37 -1 known missense c.436 p.P146A 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 203 0 0 182 38 17.2727 SCN3A 0 genome.wustl.edu 37 2 165947259 165947259 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 165947259 165947259 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5404 p.P1802S 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 132 0 0 62 85 57.8231 RAPGEF4 0 genome.wustl.edu 37 2 173832034 173832034 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 173832034 173832034 T A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.866 p.F289Y 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 29 0 0 36 4 10 ZAK 0 genome.wustl.edu 37 2 174104139 174104139 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 174104139 174104139 G T SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.1274 p.G425V 0.385 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 58 0 0 17 28 62.2222 EVX2 0 genome.wustl.edu 37 2 176947082 176947082 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 176947082 176947082 T A SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.523 p.S175C 0.148 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 25 0 0 28 8 22.2222 MSTN 0 genome.wustl.edu 37 2 190924970 190924970 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 190924970 190924970 T A SNP MSTN ENST00000260950 human ensembl 74_37 -1 known missense c.565 p.I189F 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 150 0 0 150 27 15.2542 RFTN2 0 genome.wustl.edu 37 2 198495934 198495934 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 198495934 198495934 G C SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known missense c.729 p.N243K 0.645 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 75 0 0 67 14 17.284 ORC2 0 genome.wustl.edu 37 2 201822831 201822831 + Silent SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 201822831 201822831 A G SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known silent c.16 p.L6 0.218 NULL pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 80 0 0 77 19 19.7917 ZDBF2 0 genome.wustl.edu 37 2 207172799 207172799 + Nonsense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 207172799 207172799 G T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known nonsense c.3547 p.E1183* 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 90 0 0 77 20 20.6186 PLEKHM3 0 genome.wustl.edu 37 2 208725964 208725964 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 208725964 208725964 G C SNP PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known missense c.1973 p.P658R 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 117 0 0 100 21 17.3554 CRYGEP 0 genome.wustl.edu 37 2 208977199 208977199 + RNA SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 208977199 208977199 G A SNP CRYGEP ENST00000440809 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CRYGEP HGNC ENSG00000229150 15 0 0 21 5 19.2308 APOB 0 genome.wustl.edu 37 2 21234023 21234023 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 21234023 21234023 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.5717 p.T1906I 0.054 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 182 0 0 50 78 60.9375 CYP27A1 0 genome.wustl.edu 37 2 219677108 219677108 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 219677108 219677108 G A SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.610 p.D204N 0.794 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 259 0 0 223 36 13.8996 DOCK10 0 genome.wustl.edu 37 2 225651752 225651752 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 225651752 225651752 G A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.5642 p.A1881V 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 86 0 0 70 23 24.7312 COL4A4 0 genome.wustl.edu 37 2 227896984 227896984 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 227896984 227896984 C A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.3586 p.D1196Y 0.840 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 41 0 0 16 7 30.4348 XDH 0 genome.wustl.edu 37 2 31593300 31593300 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 31593300 31593300 C T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.1901 p.C634Y 0.943 pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 56 0 0 30 10 25 TTC27 0 genome.wustl.edu 37 2 33002969 33002969 + Silent SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 33002969 33002969 C G SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known silent c.1701 p.L567 0.028 pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 60 0 0 48 10 17.2414 USP34 0 genome.wustl.edu 37 2 61483553 61483553 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 61483553 61483553 A C SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.6187 p.S2063A 1.000 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 54 0 0 20 19 48.7179 IMMT 0 genome.wustl.edu 37 2 86371621 86371621 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 86371621 86371621 C G SNP IMMT ENST00000410111 human ensembl 74_37 -1 known missense c.2047 p.E683Q 1.000 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 86 0 0 49 20 28.9855 TSGA10 0 genome.wustl.edu 37 2 99651877 99651877 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 99651877 99651877 T A SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.1430 p.K477M 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 55 0 0 47 10 17.5439 EIF5B 0 genome.wustl.edu 37 2 99977640 99977640 + Silent SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 2 99977640 99977640 C G SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.276 p.T92 0.154 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 50 0 0 40 23 36.5079 GINS1 0 genome.wustl.edu 37 20 25388426 25388426 + RNA SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 25388426 25388426 G C SNP GINS1 ENST00000484893 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GINS1 HGNC ENSG00000101003 45 0 0 43 6 12.2449 PTPRT 0 genome.wustl.edu 37 20 41385177 41385177 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 41385177 41385177 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.784 p.V262I 1.000 pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 50 0 0 77 22 22.2222 TP53TG5 0 genome.wustl.edu 37 20 44003762 44003762 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 44003762 44003762 A G SNP TP53TG5 ENST00000372726 human ensembl 74_37 -1 known missense c.685 p.S229P 0.002 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 106 0 0 135 94 41.048 ZNF217 0 genome.wustl.edu 37 20 52198293 52198293 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 52198293 52198293 G C SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.1073 p.A358G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 134 0 0 335 20 5.6338 CDH26 0 genome.wustl.edu 37 20 58560139 58560139 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 58560139 58560139 T G SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.792 p.D264E 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 65 0 0 82 14 14.5833 OSBPL2 0 genome.wustl.edu 37 20 60859101 60859101 + Splice_Site SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 60859101 60859101 G A SNP OSBPL2 ENST00000313733 human ensembl 74_37 +1 known splice_site c.873-1 e9-1 1.000 - - - no_errors OSBPL2 HGNC ENSG00000130703 90 0 0 148 21 12.426 GATA5 0 genome.wustl.edu 37 20 61040443 61040443 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 61040443 61040443 G T SNP GATA5 ENST00000252997 human ensembl 74_37 -1 known missense c.991 p.P331T 0.000 pirsf_TF_GATA_4/5/6 pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA5 HGNC ENSG00000130700 49 0 0 94 6 6 C20orf166-AS1 0 genome.wustl.edu 37 20 61143624 61143624 + RNA SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 61143624 61143624 G A SNP C20orf166-AS1 ENST00000412495 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf166-AS1 HGNC ENSG00000174403 70 0 0 118 33 21.8543 DNAJC5 0 genome.wustl.edu 37 20 62559705 62559705 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 20 62559705 62559705 G C SNP DNAJC5 ENST00000360864 human ensembl 74_37 +1 known missense c.7 p.D3H 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 103 0 0 142 38 21.1111 USP25 0 genome.wustl.edu 37 21 17172100 17172100 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 21 17172100 17172100 A G SNP USP25 ENST00000400183 human ensembl 74_37 +1 known missense c.580 p.R194G 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 66 0 0 19 23 54.7619 KRTAP10-4 0 genome.wustl.edu 37 21 45993824 45993824 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 21 45993824 45993824 G A SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known silent c.189 p.V63 0.390 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 13 0 0 13 3 18.75 COL6A2 0 genome.wustl.edu 37 21 47545507 47545507 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 21 47545507 47545507 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.1945 p.A649T 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 61 0 0 11 24 68.5714 ZDHHC8 0 genome.wustl.edu 37 22 20126835 20126835 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 22 20126835 20126835 C T SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known nonsense c.223 p.R75* 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 118 0 0 105 18 14.6341 ENSG00000273000 0 genome.wustl.edu 37 22 24056478 24056478 + RNA SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 22 24056478 24056478 G A SNP ENSG00000273000 ENST00000421064 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors KB-1572G7.2 Clone_based_vega_gene ENSG00000273000 25 0 0 8 27 77.1429 HPS4 0 genome.wustl.edu 37 22 26849268 26849268 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 22 26849268 26849268 C T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.2097 p.Q699 1.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 243 0 0 204 42 17.0732 CRYBB1 0 genome.wustl.edu 37 22 26995521 26995521 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 22 26995521 26995521 C T SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.692 p.R231H 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 96 0 0 14 59 80.8219 CACNA1I 0 genome.wustl.edu 37 22 40045825 40045825 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 22 40045825 40045825 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.1905 p.T635 0.084 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 32 0 0 29 6 17.1429 CHKB 0 genome.wustl.edu 37 22 51018797 51018797 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 22 51018797 51018797 G A SNP CHKB ENST00000406938 human ensembl 74_37 -1 known silent c.726 p.D242 1.000 pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 205 0 0 55 156 73.9336 SHANK3 0 genome.wustl.edu 37 22 51142343 51142343 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 22 51142343 51142343 C T SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.1716 p.Y572 0.957 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 22 0 0 3 9 75 GOLGB1 0 genome.wustl.edu 37 3 121418664 121418664 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 121418664 121418664 T G SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.1573 p.S525R 0.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 38 0 0 27 18 40 UROC1 0 genome.wustl.edu 37 3 126214935 126214935 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 126214935 126214935 C A SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.1455 p.K485N 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 33 0 0 8 9 52.9412 XRN1 0 genome.wustl.edu 37 3 142133030 142133030 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 142133030 142133030 G T SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.1540 p.L514I 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 105 0 0 66 46 41.0714 PLSCR2 0 genome.wustl.edu 37 3 146173129 146173129 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 146173129 146173129 C T SNP PLSCR2 ENST00000336685 human ensembl 74_37 -1 known missense c.218 p.R73K 0.083 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR2 HGNC ENSG00000163746 120 0 0 61 53 46.4912 DNAJC19 0 genome.wustl.edu 37 3 180704741 180704741 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 180704741 180704741 G T SNP DNAJC19 ENST00000382564 human ensembl 74_37 -1 known missense c.199 p.L67I 0.997 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC19 HGNC ENSG00000205981 100 0 0 67 18 21.1765 ATP13A5 0 genome.wustl.edu 37 3 192992921 192992921 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 192992921 192992921 G A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known silent c.3567 p.N1189 0.184 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 161 0 0 172 42 19.6262 TMPPE 0 genome.wustl.edu 37 3 33134422 33134422 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 33134422 33134422 G A SNP TMPPE ENST00000342462 human ensembl 74_37 -1 known silent c.1266 p.F422 0.959 NULL pfam_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 59 0 0 51 23 31.0811 CTNNB1 0 genome.wustl.edu 37 3 41266100 41266100 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 41266100 41266100 T C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.97 p.S33P 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 63 0 0 27 24 47.0588 CCR9 0 genome.wustl.edu 37 3 45943257 45943257 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 45943257 45943257 G A SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.977 p.R326Q 0.865 prints_Chemokine_CCR9,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 87 0 0 47 49 51.0417 PLXNB1 0 genome.wustl.edu 37 3 48455322 48455322 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 48455322 48455322 G C SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4368 p.D1456E 0.002 NULL 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 PLXNB1 HGNC ENSG00000164050 51 0 0 50 17 25.3731 PLXNB1 0 genome.wustl.edu 37 3 48465615 48465615 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 48465615 48465615 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.406 p.R136W 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 PLXNB1 HGNC ENSG00000164050 16 0 0 27 2 6.89655 PFKFB4 0 genome.wustl.edu 37 3 48576698 48576698 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 48576698 48576698 C G SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.499 p.A167P 0.951 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 39 0 0 31 20 39.2157 NISCH 0 genome.wustl.edu 37 3 52526002 52526002 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 52526002 52526002 A T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known missense c.4019 p.E1340V 0.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 90 0 0 67 29 30.2083 ERC2 0 genome.wustl.edu 37 3 56330199 56330199 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 56330199 56330199 G T SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.922 p.L308I 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 333 0 0 248 124 33.3333 VGLL3 0 genome.wustl.edu 37 3 87017820 87017820 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 87017820 87017820 G T SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known missense c.857 p.T286K 0.999 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 65 0 0 33 11 25 VGLL3 0 genome.wustl.edu 37 3 87017831 87017831 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 87017831 87017831 T C SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known silent c.846 p.T282 1.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 59 0 0 39 5 11.3636 EPHA3 0 genome.wustl.edu 37 3 89457249 89457249 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 3 89457249 89457249 A T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1730 p.D577V 1.000 pirsf_Tyr_kinase_ephrin_rcpt 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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_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 EPHA3 HGNC ENSG00000044524 184 0 0 115 76 39.7906 LARP1B 0 genome.wustl.edu 37 4 129043260 129043260 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 4 129043260 129043260 G T SNP LARP1B ENST00000326639 human ensembl 74_37 +1 known missense c.1441 p.A481S 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 132 1 0.75188 43 46 51.6854 NKX3-2 0 genome.wustl.edu 37 4 13543878 13543878 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 4 13543878 13543878 C G SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known missense c.741 p.E247D 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 17 0 0 18 11 37.931 NPY2R 0 genome.wustl.edu 37 4 156135770 156135770 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 4 156135770 156135770 T C SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known silent c.679 p.L227 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 140 0 0 27 53 66.25 FAT1 0 genome.wustl.edu 37 4 187549439 187549439 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 4 187549439 187549439 G C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.4679 p.P1560R 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 29 0 0 15 8 34.7826 CWH43 0 genome.wustl.edu 37 4 49052744 49052744 + Silent SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 4 49052744 49052744 G C SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known silent c.1899 p.L633 0.969 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 81 0 0 71 11 13.4146 ANKRD17 0 genome.wustl.edu 37 4 73957880 73957880 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 4 73957880 73957880 G A SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.5465 p.A1822V 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 189 0 0 142 40 21.978 ANKRD17 0 genome.wustl.edu 37 4 73957892 73957892 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 4 73957892 73957892 A C SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.5453 p.I1818R 0.992 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 165 0 0 137 36 20.8092 SEC31A 0 genome.wustl.edu 37 4 83763493 83763493 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 4 83763493 83763493 G T SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known missense c.2768 p.S923Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 20 0 0 14 17 54.8387 GIN1 0 genome.wustl.edu 37 5 102433117 102433117 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 102433117 102433117 A T SNP GIN1 ENST00000399004 human ensembl 74_37 -1 known missense c.909 p.H303Q 0.007 NULL pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 109 0 0 122 41 25.1534 SLC12A7 0 genome.wustl.edu 37 5 1076859 1076859 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 1076859 1076859 C G SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1698 p.E566D 1.000 pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 49 0 0 75 15 16.6667 SNCAIP 0 genome.wustl.edu 37 5 121739486 121739486 + Splice_Site SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 121739486 121739486 A C SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known splice_site c.199-2 e3-2 1.000 - - - no_errors SNCAIP HGNC ENSG00000064692 120 0 0 78 49 38.5827 PCDHA1 0 genome.wustl.edu 37 5 140167155 140167155 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 140167155 140167155 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1280 p.A427V 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 209 0 0 144 44 23.4043 PCDHB15 0 genome.wustl.edu 37 5 140626809 140626809 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 140626809 140626809 A C SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1663 p.N555H 1.000 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 PCDHB15 HGNC ENSG00000113248 84 0 0 50 39 43.8202 ABLIM3 0 genome.wustl.edu 37 5 148627430 148627430 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 148627430 148627430 G A SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known missense c.1637 p.R546Q 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 40 0 0 21 7 25 ATP10B 0 genome.wustl.edu 37 5 160029611 160029611 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 160029611 160029611 C G SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.3336 p.M1112I 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 39 0 0 38 10 20.8333 GUSBP1 0 genome.wustl.edu 37 5 21497235 21497235 + RNA SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 21497235 21497235 C T SNP GUSBP1 ENST00000508260 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GUSBP1 HGNC ENSG00000183666 63 0 0 12 3 20 GZMK 0 genome.wustl.edu 37 5 54327286 54327286 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 54327286 54327286 G A SNP GZMK ENST00000231009 human ensembl 74_37 +1 known missense c.458 p.G153D 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 90 0 0 69 43 38.3929 JMY 0 genome.wustl.edu 37 5 78612029 78612029 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 5 78612029 78612029 C G SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.2866 p.L956V 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 51 0 0 8 8 50 ERVFRD-1 0 genome.wustl.edu 37 6 11105116 11105116 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 11105116 11105116 G T SNP ERVFRD-1 ENST00000472091 human ensembl 74_37 -1 known missense c.428 p.T143K 0.975 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 303 0 0 290 39 11.8541 LATS1 0 genome.wustl.edu 37 6 149983002 149983002 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 149983002 149983002 C A SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.3256 p.D1086Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 111 0 0 123 14 10.219 SYNE1 0 genome.wustl.edu 37 6 152653023 152653023 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 152653023 152653023 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.12797 p.S4266F 0.998 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 99 0 0 95 21 18.1034 VIP 0 genome.wustl.edu 37 6 153073373 153073373 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 153073373 153073373 T A SNP VIP ENST00000367244 human ensembl 74_37 +1 known missense c.61 p.S21T 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 72 0 0 81 16 16.4948 TULP4 0 genome.wustl.edu 37 6 158923411 158923411 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 158923411 158923411 C A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.2716 p.R906 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 128 1 0.775194 131 52 28.4153 TBP 0 genome.wustl.edu 37 6 170871058 170871058 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 170871058 170871058 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.234 p.Q78 0.998 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 42 0 0 33 6 15.3846 GABBR1 0 genome.wustl.edu 37 6 29574171 29574171 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 29574171 29574171 G A SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.2308 p.L770F 1.000 pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 164 0 0 98 78 44.3182 HLA-E 0 genome.wustl.edu 37 6 30459040 30459040 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 30459040 30459040 C G SNP HLA-E ENST00000376630 human ensembl 74_37 +1 known missense c.737 p.T246S 0.983 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-E HGNC ENSG00000204592 171 0 0 110 90 45 DUSP22 0 genome.wustl.edu 37 6 311948 311948 + Silent SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 311948 311948 A C SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known silent c.124 p.R42 0.987 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 71 0 0 37 27 42.1875 NCR3 0 genome.wustl.edu 37 6 31556854 31556854 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 31556854 31556854 G T SNP NCR3 ENST00000340027 human ensembl 74_37 -1 known missense c.596 p.P199Q 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NCR3 HGNC ENSG00000204475 39 0 0 39 16 29.0909 HLA-DOB 0 genome.wustl.edu 37 6 32782949 32782949 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 32782949 32782949 T A SNP HLA-DOB ENST00000438763 human ensembl 74_37 -1 known missense c.233 p.K78M 0.887 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOB HGNC ENSG00000241106 93 0 0 92 44 32.3529 ITPR3 0 genome.wustl.edu 37 6 33652701 33652701 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 33652701 33652701 G C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.5288 p.G1763A 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 87 0 0 115 17 12.8788 MOCS1 0 genome.wustl.edu 37 6 39902073 39902073 + Silent SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 39902073 39902073 G T SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known silent c.84 p.T28 0.720 NULL pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 9 0 0 7 5 41.6667 DEFB110 0 genome.wustl.edu 37 6 49976974 49976974 + Silent SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 49976974 49976974 A G SNP DEFB110 ENST00000393660 human ensembl 74_37 -1 known silent c.66 p.N22 0.000 NULL NULL - no_errors DEFB110 HGNC ENSG00000203970 43 0 0 35 16 31.3725 ICK 0 genome.wustl.edu 37 6 52905948 52905948 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 52905948 52905948 C A SNP ICK ENST00000350082 human ensembl 74_37 -1 known silent c.87 p.L29 0.988 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_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 - no_errors ICK HGNC ENSG00000112144 171 0 0 109 45 29.2208 DSP 0 genome.wustl.edu 37 6 7574926 7574926 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 7574926 7574926 C A SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.2334 p.L778 0.246 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 125 0 0 158 49 23.6715 PRSS35 0 genome.wustl.edu 37 6 84234250 84234250 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 84234250 84234250 C T SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.1090 p.R364C 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 93 0 0 27 47 63.5135 KIAA1009 0 genome.wustl.edu 37 6 84834767 84834767 + RNA SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 84834767 84834767 C T SNP KIAA1009 ENST00000461137 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors KIAA1009 HGNC ENSG00000135315 13 0 0 1 6 85.7143 BACH2 0 genome.wustl.edu 37 6 90661069 90661069 + Silent SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 90661069 90661069 A C SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known silent c.756 p.G252 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 152 0 0 39 66 62.8571 EPHB4 0 genome.wustl.edu 37 7 100401096 100401096 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 100401096 100401096 G T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2951 p.A984D 0.275 pirsf_Tyr_kinase_ephrin_rcpt 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,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 EPHB4 HGNC ENSG00000196411 10 0 0 2 4 66.6667 PLOD3 0 genome.wustl.edu 37 7 100859255 100859255 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 100859255 100859255 C T SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known nonsense c.549 p.W183* 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 101 0 0 69 9 11.5385 LHFPL3 0 genome.wustl.edu 37 7 103969641 103969641 + Nonsense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 103969641 103969641 C A SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known nonsense c.414 p.Y138* 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 120 0 0 79 21 21 KIAA1549 0 genome.wustl.edu 37 7 138566147 138566147 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 138566147 138566147 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.4216 p.R1406C 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 85 0 0 27 85 75.8929 TAS2R4 0 genome.wustl.edu 37 7 141478478 141478478 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 141478478 141478478 G A SNP TAS2R4 ENST00000247881 human ensembl 74_37 +1 known missense c.190 p.V64M 0.641 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 166 0 0 166 33 16.5829 EPHB6 0 genome.wustl.edu 37 7 142566048 142566048 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 142566048 142566048 G T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.1968 p.Q656H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_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 EPHB6 HGNC ENSG00000106123 99 0 0 95 25 20.8333 TRPV6 0 genome.wustl.edu 37 7 142573524 142573524 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 142573524 142573524 G A SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.896 p.T299I 1.000 prints_TRPV5/TRPV6,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 136 0 0 124 10 7.46269 CTAGE6 0 genome.wustl.edu 37 7 143453505 143453505 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 143453505 143453505 A G SNP CTAGE6 ENST00000470691 human ensembl 74_37 -1 known missense c.1247 p.L416P 0.022 NULL superfamily_tRNA-bd_arm - no_errors CTAGE6 HGNC ENSG00000271321 202 0 0 200 20 9.09091 CNTNAP2 0 genome.wustl.edu 37 7 147183113 147183113 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 147183113 147183113 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1757 p.S586N 0.417 pfam_EG-like_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 89 0 0 65 19 22.619 EZH2 0 genome.wustl.edu 37 7 148543680 148543680 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 148543680 148543680 C A SNP EZH2 ENST00000320356 human ensembl 74_37 -1 known missense c.128 p.S43I 1.000 pfam_EZH2_WD-Binding pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 38 0 0 5 13 72.2222 SSPO 0 genome.wustl.edu 37 7 149474038 149474038 + RNA SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 149474038 149474038 G C SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors SSPO HGNC ENSG00000197558 59 0 0 55 13 19.1176 EN2 0 genome.wustl.edu 37 7 155255080 155255080 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 155255080 155255080 A G SNP EN2 ENST00000297375 human ensembl 74_37 +1 known missense c.700 p.K234E 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa - no_errors EN2 HGNC ENSG00000164778 232 0 0 117 31 20.9459 HDAC9 0 genome.wustl.edu 37 7 18688166 18688166 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 18688166 18688166 T C SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known silent c.1327 p.L443 0.829 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 99 0 0 76 49 39.2 DNAH11 0 genome.wustl.edu 37 7 21775375 21775375 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 21775375 21775375 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.7579 p.V2527L 0.809 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 74 0 0 43 30 41.0959 CARD11 0 genome.wustl.edu 37 7 2962848 2962848 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 2962848 2962848 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2060 p.A687V 0.853 superfamily_PDZ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 70 0 0 73 13 15.1163 ENSG00000228434 0 genome.wustl.edu 37 7 44044696 44044696 + RNA SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 44044696 44044696 C T SNP ENSG00000228434 ENST00000447643 human ensembl 74_37 -1 known rna NULL NULL 0.479 - - - no_errors AC004951.6 Clone_based_vega_gene ENSG00000228434 116 0 0 103 52 33.5484 MMD2 0 genome.wustl.edu 37 7 4949532 4949532 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 4949532 4949532 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.589 p.A197T 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 47 0 0 13 28 68.2927 FSCN1 0 genome.wustl.edu 37 7 5632769 5632769 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 5632769 5632769 C T SNP FSCN1 ENST00000382361 human ensembl 74_37 +1 known missense c.202 p.R68C 1.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 27 0 0 11 9 45 GTF2IRD1P1 0 genome.wustl.edu 37 7 66304608 66304608 + RNA SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 66304608 66304608 G C SNP GTF2IRD1P1 ENST00000457166 human ensembl 74_37 -1 known rna NULL NULL 0.501 - - - no_errors GTF2IRD1P1 HGNC ENSG00000230583 29 0 0 26 8 23.5294 POMZP3 0 genome.wustl.edu 37 7 76254944 76254944 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 76254944 76254944 G C SNP POMZP3 ENST00000310842 human ensembl 74_37 -1 known missense c.122 p.P41R 0.365 NULL pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 220 0 0 253 47 15.6667 FGL2 0 genome.wustl.edu 37 7 76828646 76828646 + Silent SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 76828646 76828646 A G SNP FGL2 ENST00000248598 human ensembl 74_37 -1 known silent c.465 p.H155 0.030 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL2 HGNC ENSG00000127951 78 0 0 44 63 58.8785 PCLO 0 genome.wustl.edu 37 7 82545735 82545735 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 82545735 82545735 G C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11567 p.P3856R 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 287 1 0.347222 198 58 22.6562 PCLO 0 genome.wustl.edu 37 7 82585418 82585418 + Silent SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 82585418 82585418 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.4851 p.T1617 0.017 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 249 0 0 176 55 23.8095 SAMD9L 0 genome.wustl.edu 37 7 92763387 92763387 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 92763387 92763387 C T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.1898 p.R633K 0.022 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 120 0 0 100 27 21.2598 NPTX2 0 genome.wustl.edu 37 7 98256551 98256551 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 7 98256551 98256551 C A SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known silent c.963 p.G321 0.992 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 84 0 0 61 16 20.7792 PKHD1L1 0 genome.wustl.edu 37 8 110487423 110487423 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 110487423 110487423 T C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.8682 p.N2894 0.724 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 57 0 0 36 12 25 ASAP1 0 genome.wustl.edu 37 8 131146567 131146567 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 131146567 131146567 C A SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.1192 p.A398S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 68 0 0 46 14 23.3333 EPPK1 0 genome.wustl.edu 37 8 144943893 144943893 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 144943893 144943893 C G SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.3529 p.A1177P 0.002 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 11 0 0 10 3 23.0769 GFRA2 0 genome.wustl.edu 37 8 21560414 21560414 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 21560414 21560414 T A SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known missense c.1121 p.Q374L 0.934 pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 21 0 0 26 14 35 FGF17 0 genome.wustl.edu 37 8 21905563 21905563 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 21905563 21905563 G A SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known missense c.454 p.A152T 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 33 0 0 28 8 22.2222 NEFM 0 genome.wustl.edu 37 8 24774588 24774588 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 24774588 24774588 G T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.1220 p.G407V 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 85 0 0 59 15 20.2703 SDAD1P1 0 genome.wustl.edu 37 8 26237328 26237328 + RNA SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 26237328 26237328 C G SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDAD1P1 HGNC ENSG00000228451 53 0 0 22 17 43.5897 TUBBP1 0 genome.wustl.edu 37 8 30210844 30210844 + RNA SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 30210844 30210844 A G SNP TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 0.962 - - - no_errors TUBBP1 HGNC ENSG00000127589 11 0 0 7 4 36.3636 RBPMS 0 genome.wustl.edu 37 8 30416475 30416475 + Splice_Site SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 30416475 30416475 T A SNP RBPMS ENST00000287771 human ensembl 74_37 +1 known splice_site c.615+2 e8+2 0.998 - - - no_errors RBPMS HGNC ENSG00000157110 63 0 0 52 7 11.8644 XKR4 0 genome.wustl.edu 37 8 56436707 56436707 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 56436707 56436707 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1874 p.C625Y 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 64 0 0 67 10 12.987 SGK223 0 genome.wustl.edu 37 8 8234613 8234613 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 8234613 8234613 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.1306 p.A436T 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 83 0 0 75 35 31.8182 LCN15 0 genome.wustl.edu 37 9 139658879 139658879 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 9 139658879 139658879 T A SNP LCN15 ENST00000316144 human ensembl 74_37 -1 known missense c.62 p.E21V 0.999 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin - no_errors LCN15 HGNC ENSG00000177984 39 0 0 12 27 69.2308 ABCA2 0 genome.wustl.edu 37 9 139912242 139912242 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 9 139912242 139912242 C A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.2208 p.K736N 0.999 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 52 0 0 16 41 71.9298 TLN1 0 genome.wustl.edu 37 9 35720037 35720037 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 9 35720037 35720037 A G SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.1463 p.L488P 0.998 superfamily_Talin_cent pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 46 0 0 49 23 31.9444 RECK 0 genome.wustl.edu 37 9 36102209 36102209 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 9 36102209 36102209 C T SNP RECK ENST00000377966 human ensembl 74_37 +1 known missense c.1417 p.P473S 1.000 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 104 0 0 54 33 37.931 KDM4C 0 genome.wustl.edu 37 9 7169838 7169838 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 9 7169838 7169838 A T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.2942 p.E981V 1.000 superfamily_Chorismate_mutase_type_II,smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 70 0 0 61 29 32.2222 HABP4 0 genome.wustl.edu 37 9 99246632 99246632 + RNA SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 9 99246632 99246632 A C SNP HABP4 ENST00000466976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HABP4 HGNC ENSG00000130956 11 0 0 1 5 83.3333 MT-ND6 0 genome.wustl.edu 37 MT 14166 14166 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 MT 14166 14166 T C SNP MT-ND6 ENST00000361681 human ensembl 74_37 -1 known missense c.508 p.I170V NULL pfam_NADH_UbQ/plastoQ_OxRdtase_su6 pfam_NADH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 10 0 0 0 3 100 ZMAT1 0 genome.wustl.edu 37 X 101138838 101138838 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 101138838 101138838 G C SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.1561 p.L521V 0.000 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 35 0 0 23 11 32.3529 TCEAL3 0 genome.wustl.edu 37 X 102864295 102864295 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 102864295 102864295 G A SNP TCEAL3 ENST00000243286 human ensembl 74_37 +1 known silent c.303 p.P101 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL3 HGNC ENSG00000196507 100 0 0 27 147 84.4828 DOCK11 0 genome.wustl.edu 37 X 117744266 117744266 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 117744266 117744266 A T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.2981 p.Y994F 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 46 0 0 47 23 32.8571 ZNF449 0 genome.wustl.edu 37 X 134481436 134481436 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 134481436 134481436 G A SNP ZNF449 ENST00000370761 human ensembl 74_37 +1 known silent c.393 p.K131 0.004 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 25 0 0 12 13 52 DDX26B 0 genome.wustl.edu 37 X 134711259 134711259 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 134711259 134711259 A T SNP DDX26B ENST00000370752 human ensembl 74_37 +1 known missense c.1915 p.T639S 0.982 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 143 0 0 170 25 12.8205 ARHGEF6 0 genome.wustl.edu 37 X 135861601 135861601 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 135861601 135861601 A T SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.221 p.L74Q 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 58 0 0 23 103 81.746 PIGA 0 genome.wustl.edu 37 X 15342846 15342846 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 15342846 15342846 T A SNP PIGA ENST00000333590 human ensembl 74_37 -1 known missense c.1129 p.I377F 0.670 NULL pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 89 0 0 29 96 76.8 SLC10A3 0 genome.wustl.edu 37 X 153717161 153717161 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 153717161 153717161 C T SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known nonsense c.119 p.W40* 0.019 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 46 0 0 59 40 40.404 MPP1 0 genome.wustl.edu 37 X 154020488 154020488 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 154020488 154020488 C T SNP MPP1 ENST00000369534 human ensembl 74_37 -1 known missense c.175 p.A59T 0.063 superfamily_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,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 MPP1 HGNC ENSG00000130830 73 0 0 68 58 46.0317 FUNDC2 0 genome.wustl.edu 37 X 154282921 154282921 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 154282921 154282921 G C SNP FUNDC2 ENST00000369498 human ensembl 74_37 +1 known missense c.544 p.G182R 1.000 pfam_FUN14 pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 118 0 0 32 202 86.3248 PPP2R3B 0 genome.wustl.edu 37 X 306381 306381 + Silent SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 306381 306381 C G SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.906 p.A302 0.989 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 131 0 0 37 54 59.3407 FAM47B 0 genome.wustl.edu 37 X 34962700 34962700 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 34962700 34962700 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known silent c.1752 p.D584 0.015 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 109 0 0 33 89 72.9508 MAGEB16 0 genome.wustl.edu 37 X 35820338 35820338 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 35820338 35820338 C T SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known nonsense c.121 p.R41* 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 49 0 0 23 21 47.7273 TAF1 0 genome.wustl.edu 37 X 70618460 70618460 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 70618460 70618460 A G SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.3656 p.E1219G 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 31 0 0 16 27 62.7907 CDX4 0 genome.wustl.edu 37 X 72667553 72667553 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 72667553 72667553 G C SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.464 p.S155T 1.000 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 44 0 0 32 11 25.5814 DACH2 0 genome.wustl.edu 37 X 85969556 85969556 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 X 85969556 85969556 G T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.937 p.D313Y 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 67 0 0 25 59 70.2381 PRAMEF2 0 genome.wustl.edu 37 1 12921227 12921235 + In_Frame_Del DEL CTAGGAGCT CTAGGAGCT - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 CTAGGAGCT CTAGGAGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 12921227 12921235 CTAGGAGCT - DEL PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known in_frame_del c.1018_1026 p.GAL341in_frame_del 0.002:0.002:0.000:0.000:0.000:0.000:0.001:0.000:0.002 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 317 0 0 265 25 8.62069 NAV1 0 genome.wustl.edu 37 1 201789042 201789042 + Frame_Shift_Del DEL C C - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 201789042 201789042 C - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known frame_shift_del c.5616 p.L1873fs 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 117 0 0 85 14 14.1414 CSMD2 0 genome.wustl.edu 37 1 34209071 34209082 + In_Frame_Del DEL GTTGAAGGCCAG GTTGAAGGCCAG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 GTTGAAGGCCAG GTTGAAGGCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 1 34209071 34209082 GTTGAAGGCCAG - DEL CSMD2 ENST00000373381 human ensembl 74_37 -1 known in_frame_del c.1983_1972 p.LAFN658in_frame_del 0.518:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 136 0 0 72 25 25.7732 HECTD1 0 genome.wustl.edu 37 14 31626445 31626459 + In_Frame_Del DEL CTTCTTTTAACAGTG CTTCTTTTAACAGTG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 CTTCTTTTAACAGTG CTTCTTTTAACAGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 31626445 31626459 CTTCTTTTAACAGTG - DEL HECTD1 ENST00000399332 human ensembl 74_37 -1 known in_frame_del c.1687_1673 p.ALLKE558in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.990:1.000:1.000:1.000:1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 120 0 0 71 16 18.3908 ELMSAN1 0 genome.wustl.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 14 74205926 74205928 CTG - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known in_frame_del c.786_784 p.Q262in_frame_del 1.000:1.000:1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 31 0 0 20 2 9.09091 RLTPR 0 genome.wustl.edu 37 16 67686189 67686189 + Frame_Shift_Del DEL G G - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 16 67686189 67686189 G - DEL RLTPR ENST00000334583 human ensembl 74_37 +1 known frame_shift_del c.2764 p.E923fs 0.941 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 160 0 0 63 38 37.6238 ANKRD11 0 genome.wustl.edu 37 16 89357231 89357231 + Frame_Shift_Del DEL T T - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 16 89357231 89357231 T - DEL ANKRD11 ENST00000301030 human ensembl 74_37 -1 known frame_shift_del c.403 p.T135fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 147 0 0 85 20 19.0476 MAP2K4 0 genome.wustl.edu 37 17 12013711 12013722 + In_Frame_Del DEL ACTTAAAAGAAA ACTTAAAAGAAA - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 ACTTAAAAGAAA ACTTAAAAGAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 12013711 12013722 ACTTAAAAGAAA - DEL MAP2K4 ENST00000415385 human ensembl 74_37 +1 known in_frame_del c.686_697 p.ENLK232in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 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_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 - no_errors MAP2K4 HGNC ENSG00000065559 97 0 0 25 13 34.2105 CCDC47 0 genome.wustl.edu 37 17 61829423 61829443 + In_Frame_Del DEL GTTCTCTTCTACTCGGGCACG GTTCTCTTCTACTCGGGCACG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 GTTCTCTTCTACTCGGGCACG GTTCTCTTCTACTCGGGCACG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 17 61829423 61829443 GTTCTCTTCTACTCGGGCACG - DEL CCDC47 ENST00000225726 human ensembl 74_37 -1 known in_frame_del c.1248_1228 p.RARVEEN410in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:0.995:1.000:1.000:0.943:1.000:1.000:0.886:1.000:0.998:0.041:1.000:1.000:0.837:1.000:1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 113 0 0 84 7 7.69231 ERVFRD-1 0 genome.wustl.edu 37 6 11105114 11105115 + Frame_Shift_Ins INS - - T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 11105114 11105115 - T INS ERVFRD-1 ENST00000472091 human ensembl 74_37 -1 known frame_shift_ins c.430_429 p.V143fs 0.973:0.974 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 322 0 0 342 29 7.81671 AGER 0 genome.wustl.edu 37 6 32148965 32148975 + Frame_Shift_Del DEL CTGATTCAGTT CTGATTCAGTT - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 CTGATTCAGTT CTGATTCAGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 32148965 32148975 CTGATTCAGTT - DEL AGER ENST00000375070 human ensembl 74_37 -1 known frame_shift_del c.1263_1253 p.E418fs 0.987:0.997:1.000:0.994:0.999:0.998:1.000:1.000:1.000:0.993:0.994 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AGER HGNC ENSG00000204305 344 0 0 235 56 19.244 TCP11 0 genome.wustl.edu 37 6 35088008 35088022 + In_Frame_Del DEL AAAACACTGCCGGAG AAAACACTGCCGGAG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 AAAACACTGCCGGAG AAAACACTGCCGGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 35088008 35088022 AAAACACTGCCGGAG - DEL TCP11 ENST00000311875 human ensembl 74_37 -1 known in_frame_del c.1082_1068 p.FSGSV356in_frame_del 0.381:0.009:0.000:0.001:0.002:0.001:0.011:0.785:0.849:1.000:1.000:0.986:0.986:0.981:0.962 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 54 0 0 48 28 36.8421 COL9A1 0 genome.wustl.edu 37 6 70983698 70983700 + In_Frame_Del DEL ATT ATT - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 ATT ATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 70983698 70983700 ATT - DEL COL9A1 ENST00000370499 human ensembl 74_37 -1 known in_frame_del c.344_342 p.KI114in_frame_delN 0.998:1.000:1.000 NULL pfam_Collagen - no_errors COL9A1 HGNC ENSG00000112280 23 0 0 5 9 64.2857 B3GAT2 0 genome.wustl.edu 37 6 71571445 71571450 + In_Frame_Del DEL ACGAGA ACGAGA - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 ACGAGA ACGAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 6 71571445 71571450 ACGAGA - DEL B3GAT2 ENST00000230053 human ensembl 74_37 -1 known in_frame_del c.893_888 p.LV297in_frame_del 1.000:1.000:0.711:1.000:1.000:0.969 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 120 0 0 42 15 26.3158 FER1L6 0 genome.wustl.edu 37 8 125015451 125015472 + Frame_Shift_Del DEL AAGAAGTCAGCTGAATCAGCTG AAGAAGTCAGCTGAATCAGCTG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 AAGAAGTCAGCTGAATCAGCTG AAGAAGTCAGCTGAATCAGCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 8 125015451 125015472 AAGAAGTCAGCTGAATCAGCTG - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.1564_1585 p.S524fs 0.941:1.000:1.000:1.000:0.995:0.857:0.828:0.820:0.105:0.003:0.000:0.000:0.838:0.832:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.927 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 123 0 0 83 15 15.3061 DPH7 0 genome.wustl.edu 37 9 140468751 140468751 + Frame_Shift_Del DEL G G - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 9 140468751 140468751 G - DEL DPH7 ENST00000277540 human ensembl 74_37 -1 known frame_shift_del c.549 p.R184fs 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DPH7 HGNC ENSG00000148399 173 0 0 135 53 28.1915