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 NMNAT1 0 genome.wustl.edu 37 1 10032227 10032227 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 10032227 10032227 G A SNP NMNAT1 ENST00000377205 human ensembl 74_37 +1 known silent c.96 p.K32 1.000 pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT1 HGNC ENSG00000173614 175 0 0 146 49 25.1282 ATXN7L2 0 genome.wustl.edu 37 1 110033760 110033760 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 110033760 110033760 C T SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known silent c.1575 p.C525 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 67 0 0 42 8 16 GPR61 0 genome.wustl.edu 37 1 110086193 110086193 + Silent SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 110086193 110086193 C A SNP GPR61 ENST00000404129 human ensembl 74_37 +1 known silent c.549 p.S183 0.512 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 94 0 0 75 4 5.06329 KCNC4 0 genome.wustl.edu 37 1 110765765 110765765 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 110765765 110765765 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known silent c.858 p.G286 0.002 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,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_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 214 0 0 123 44 26.3473 RBM15 0 genome.wustl.edu 37 1 110882916 110882916 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 110882916 110882916 G T SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.889 p.G297C 1.000 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 172 0 0 121 39 24.375 WNT2B 0 genome.wustl.edu 37 1 113052050 113052050 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 113052050 113052050 G A SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.166 p.V56I 0.998 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 52 0 0 42 22 34.375 NOTCH2 0 genome.wustl.edu 37 1 120493447 120493447 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 120493447 120493447 C A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.2379 p.Q793H 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_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 138 0 0 110 41 27.1523 VPS13D 0 genome.wustl.edu 37 1 12569085 12569085 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 12569085 12569085 G A SNP VPS13D ENST00000496628 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors VPS13D HGNC ENSG00000048707 165 1 0.60241 116 37 24.183 AADACL3 0 genome.wustl.edu 37 1 12779578 12779578 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 12779578 12779578 G A SNP AADACL3 ENST00000359318 human ensembl 74_37 +1 known silent c.99 p.T33 0.000 NULL pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 157 0 0 117 36 23.5294 PRAMEF1 0 genome.wustl.edu 37 1 12853598 12853598 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 12853598 12853598 T C SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known silent c.222 p.H74 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 161 0 0 110 38 25.6757 HNRNPCL1 0 genome.wustl.edu 37 1 12908041 12908041 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 12908041 12908041 C A SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.102 p.E34D 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 249 0 0 213 20 8.58369 LOC101927345 0 genome.wustl.edu 37 1 143391696 143391696 + RNA SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 143391696 143391696 G T SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.485 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 26 0 0 26 4 13.3333 PDE4DIP 0 genome.wustl.edu 37 1 144922001 144922001 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 144922001 144922001 T A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1028 p.D343V 0.992 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 232 1 0.429185 208 26 11.1111 HFE2 0 genome.wustl.edu 37 1 145415461 145415461 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 145415461 145415461 G A SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.280 p.A94T 1.000 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 83 0 0 92 20 17.8571 TMOD4 0 genome.wustl.edu 37 1 151145996 151145996 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 151145996 151145996 C T SNP TMOD4 ENST00000295314 human ensembl 74_37 -1 known missense c.376 p.A126T 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD4 HGNC ENSG00000163157 152 0 0 119 35 22.7273 TDRKH 0 genome.wustl.edu 37 1 151753980 151753980 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 151753980 151753980 G A SNP TDRKH ENST00000368822 human ensembl 74_37 -1 known missense c.208 p.R70W 0.980 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 89 0 0 58 22 27.5 LINGO4 0 genome.wustl.edu 37 1 151774063 151774063 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 151774063 151774063 C T SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known missense c.1118 p.R373H 0.983 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 84 0 0 49 22 30.9859 TCHH 0 genome.wustl.edu 37 1 152081442 152081442 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 152081442 152081442 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.4251 p.R1417 0.016 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 143 0 0 115 34 22.8188 RUSC1 0 genome.wustl.edu 37 1 155291940 155291940 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 155291940 155291940 C A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.376 p.L126I 0.998 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 92 0 0 60 14 18.9189 YY1AP1 0 genome.wustl.edu 37 1 155630355 155630355 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 155630355 155630355 C T SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.1760 p.R587Q 0.003 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 131 0 0 81 21 20.5882 RHBG 0 genome.wustl.edu 37 1 156348012 156348012 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 156348012 156348012 C T SNP RHBG ENST00000400992 human ensembl 74_37 +1 known silent c.399 p.G133 0.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 70 0 0 57 17 22.973 NES 0 genome.wustl.edu 37 1 156639679 156639679 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 156639679 156639679 G T SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.4301 p.A1434D 0.001 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 25 0 0 24 12 33.3333 FCRL3 0 genome.wustl.edu 37 1 157660199 157660199 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 157660199 157660199 G A SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.1554 p.H518 0.040 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 96 0 0 83 17 17 FCRL3 0 genome.wustl.edu 37 1 157665355 157665355 + Missense_Mutation SNP G G C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 157665355 157665355 G C SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1193 p.A398G 0.038 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 79 0 0 55 17 23.6111 SPTA1 0 genome.wustl.edu 37 1 158647573 158647573 + Silent SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 158647573 158647573 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.864 p.T288 0.824 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 66 0 0 70 23 24.7312 MNDA 0 genome.wustl.edu 37 1 158813189 158813189 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 158813189 158813189 G T SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.386 p.R129M 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 39 0 0 18 4 18.1818 PYHIN1 0 genome.wustl.edu 37 1 158914815 158914815 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 158914815 158914815 A G SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.1342 p.S448G 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 125 0 0 138 10 6.75676 IGSF9 0 genome.wustl.edu 37 1 159900491 159900491 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 159900491 159900491 C A SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.1804 p.A602S 0.940 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 83 0 0 57 14 19.7183 FCGR2A 0 genome.wustl.edu 37 1 161487843 161487843 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 161487843 161487843 G A SNP FCGR2A ENST00000271450 human ensembl 74_37 +1 known missense c.859 p.G287S 0.038 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 133 0 0 111 25 18.3824 SH2D1B 0 genome.wustl.edu 37 1 162372593 162372593 + Splice_Site SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 162372593 162372593 C A SNP SH2D1B ENST00000367929 human ensembl 74_37 -1 known splice_site c.135-1 e2-1 1.000 - - - no_errors SH2D1B HGNC ENSG00000198574 57 0 0 35 15 30 GPA33 0 genome.wustl.edu 37 1 167024308 167024308 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 167024308 167024308 G A SNP GPA33 ENST00000367868 human ensembl 74_37 -1 known silent c.732 p.G244 0.001 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors GPA33 HGNC ENSG00000143167 97 0 0 58 16 21.6216 SLC19A2 0 genome.wustl.edu 37 1 169446634 169446634 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 169446634 169446634 C T SNP SLC19A2 ENST00000236137 human ensembl 74_37 -1 known missense c.566 p.S189N 1.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 48 0 0 48 16 25 PRRC2C 0 genome.wustl.edu 37 1 171504578 171504578 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 171504578 171504578 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.1885 p.V629I 0.666 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 47 0 0 40 11 21.5686 PIGC 0 genome.wustl.edu 37 1 172411046 172411046 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 172411046 172411046 G A SNP PIGC ENST00000258324 human ensembl 74_37 -1 known silent c.717 p.A239 0.803 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 - no_errors PIGC HGNC ENSG00000135845 77 0 0 67 19 22.093 ARHGEF10L 0 genome.wustl.edu 37 1 17961018 17961018 + RNA SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 17961018 17961018 C A SNP ARHGEF10L ENST00000482359 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ARHGEF10L HGNC ENSG00000074964 243 0 0 171 57 25 CACNA1E 0 genome.wustl.edu 37 1 181620522 181620522 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 181620522 181620522 C A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.1000 p.L334I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 128 0 0 95 5 5 GLUL 0 genome.wustl.edu 37 1 182353567 182353567 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 182353567 182353567 G A SNP GLUL ENST00000311223 human ensembl 74_37 -1 known silent c.1095 p.G365 0.866 NULL pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 37 0 0 28 11 28.2051 DHX9 0 genome.wustl.edu 37 1 182856560 182856560 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 182856560 182856560 C T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known silent c.3804 p.G1268 0.964 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 34 0 0 19 9 32.1429 HMCN1 0 genome.wustl.edu 37 1 186030998 186030998 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 186030998 186030998 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.7328 p.R2443Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 62 0 0 54 10 15.625 HMCN1 0 genome.wustl.edu 37 1 186105833 186105833 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 186105833 186105833 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13346 p.T4449I 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 102 0 0 71 14 16.4706 TPR 0 genome.wustl.edu 37 1 186310500 186310500 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 186310500 186310500 G A SNP TPR ENST00000367478 human ensembl 74_37 -1 known nonsense c.3772 p.Q1258* 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 38 0 0 36 4 10 TAS1R2 0 genome.wustl.edu 37 1 19166144 19166144 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 19166144 19166144 C T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel silent c.2469 p.T823 0.000 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 47 0 0 44 19 30.1587 C1orf222 0 genome.wustl.edu 37 1 1919973 1919973 + Nonsense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 1919973 1919973 C A SNP C1orf222 ENST00000434971 human ensembl 74_37 -1 known nonsense c.274 p.E92* 0.023 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 92 0 0 58 19 24.6753 UBR4 0 genome.wustl.edu 37 1 19423058 19423058 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 19423058 19423058 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.13477 p.A4493T 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 321 0 0 210 59 21.9331 HTR6 0 genome.wustl.edu 37 1 19992867 19992867 + Silent SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 19992867 19992867 C A SNP HTR6 ENST00000289753 human ensembl 74_37 +1 known silent c.621 p.T207 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 76 0 0 70 24 25.5319 PKP1 0 genome.wustl.edu 37 1 201286806 201286806 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 201286806 201286806 G T SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known missense c.953 p.S318I 0.125 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 59 0 0 37 16 30.1887 LAD1 0 genome.wustl.edu 37 1 201351409 201351409 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 201351409 201351409 G A SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known nonsense c.1561 p.Q521* 0.003 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 111 0 0 106 21 16.5354 DSTYK 0 genome.wustl.edu 37 1 205138544 205138544 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 205138544 205138544 A G SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known silent c.1071 p.D357 0.396 NULL 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 DSTYK HGNC ENSG00000133059 69 0 0 62 18 22.5 NEK2 0 genome.wustl.edu 37 1 211842694 211842694 + RNA SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 211842694 211842694 T C SNP NEK2 ENST00000489633 human ensembl 74_37 -1 known rna NULL NULL 0.082 - - - no_errors NEK2 HGNC ENSG00000117650 61 0 0 28 8 22.2222 PTPN14 0 genome.wustl.edu 37 1 214542949 214542949 + Missense_Mutation SNP G G C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 214542949 214542949 G C SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.3122 p.T1041S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 299 0 0 202 55 21.4008 PTPN14 0 genome.wustl.edu 37 1 214638021 214638021 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 214638021 214638021 T C SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.126 p.T42 0.042 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 71 0 0 40 20 33.3333 MARK1 0 genome.wustl.edu 37 1 220791774 220791774 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 220791774 220791774 C T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known silent c.675 p.P225 0.005 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_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 63 0 0 50 19 27.5362 OBSCN 0 genome.wustl.edu 37 1 228404781 228404781 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 228404781 228404781 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.2445 p.A815 0.008 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 77 0 0 31 17 35.4167 MORN1 0 genome.wustl.edu 37 1 2318864 2318864 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 2318864 2318864 G A SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known missense c.352 p.R118W 0.305 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 151 1 0.657895 102 21 17.0732 SIPA1L2 0 genome.wustl.edu 37 1 232629283 232629283 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 232629283 232629283 C A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.1607 p.R536M 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 307 0 0 269 81 23.1429 HEATR1 0 genome.wustl.edu 37 1 236755385 236755385 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 236755385 236755385 A T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.1330 p.L444I 0.789 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 75 0 0 56 15 21.1268 OR1C1 0 genome.wustl.edu 37 1 247921546 247921546 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 247921546 247921546 G A SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known missense c.163 p.L55F 0.980 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 51 0 0 26 10 27.7778 OR2L2 0 genome.wustl.edu 37 1 248202124 248202124 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 248202124 248202124 G A SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known silent c.555 p.T185 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 275 1 0.362319 231 51 18.0851 RHCE 0 genome.wustl.edu 37 1 25715490 25715490 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 25715490 25715490 T C SNP RHCE ENST00000294413 human ensembl 74_37 -1 known missense c.916 p.I306V 0.678 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 118 0 0 67 19 22.093 UBXN11 0 genome.wustl.edu 37 1 26610635 26610635 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 26610635 26610635 G T SNP UBXN11 ENST00000374221 human ensembl 74_37 -1 known missense c.1075 p.Q359K 1.000 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 200 0 0 145 48 24.8705 BAI2 0 genome.wustl.edu 37 1 32207741 32207741 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 32207741 32207741 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.1330 p.R444W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 73 0 0 44 16 26.6667 CSMD2 0 genome.wustl.edu 37 1 34238278 34238278 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 34238278 34238278 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.1738 p.G580S 1.000 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 128 1 0.775194 90 33 26.8293 CSMD2 0 genome.wustl.edu 37 1 34401395 34401395 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 34401395 34401395 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.678 p.S226 0.502 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 74 0 0 48 21 30.4348 COL9A2 0 genome.wustl.edu 37 1 40775807 40775807 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 40775807 40775807 G A SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known silent c.768 p.G256 0.998 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 138 0 0 84 38 31.1475 HIVEP3 0 genome.wustl.edu 37 1 42045430 42045430 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 42045430 42045430 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.5039 p.S1680F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 84 0 0 68 19 21.8391 ZNF691 0 genome.wustl.edu 37 1 43317170 43317170 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 43317170 43317170 G A SNP ZNF691 ENST00000397044 human ensembl 74_37 +1 known missense c.634 p.A212T 0.156 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF691 HGNC ENSG00000164011 71 0 0 64 20 23.8095 TMEM53 0 genome.wustl.edu 37 1 45120567 45120567 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 45120567 45120567 G A SNP TMEM53 ENST00000372237 human ensembl 74_37 -1 known silent c.498 p.A166 0.000 pfam_DUF829_TMEM53 pfam_DUF829_TMEM53 - no_errors TMEM53 HGNC ENSG00000126106 27 0 0 34 12 26.087 PTCH2 0 genome.wustl.edu 37 1 45292983 45292983 + Splice_Site SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 45292983 45292983 T C SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known splice_site c.2372-2 e16-2 0.992 - - - no_errors PTCH2 HGNC ENSG00000117425 107 0 0 91 28 23.5294 LRRC41 0 genome.wustl.edu 37 1 46744526 46744526 + RNA SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 46744526 46744526 T C SNP LRRC41 ENST00000472710 human ensembl 74_37 -1 known rna NULL NULL 0.681 - - - no_errors LRRC41 HGNC ENSG00000132128 69 0 0 54 14 20.5882 CYP4B1 0 genome.wustl.edu 37 1 47279636 47279636 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 47279636 47279636 C T SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known missense c.676 p.R226C 1.000 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 CYP4B1 HGNC ENSG00000142973 169 0 0 146 32 17.9775 SLC5A9 0 genome.wustl.edu 37 1 48701406 48701406 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 48701406 48701406 C T SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.1222 p.R408W 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 54 0 0 36 12 25 ACOT11 0 genome.wustl.edu 37 1 55065132 55065132 + RNA SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 55065132 55065132 G T SNP ACOT11 ENST00000479837 human ensembl 74_37 +1 known rna NULL NULL 0.172 - - - no_errors ACOT11 HGNC ENSG00000162390 162 1 0.613497 109 58 34.7305 DNAJC6 0 genome.wustl.edu 37 1 65852598 65852598 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 65852598 65852598 C T SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.1099 p.R367W 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 87 0 0 82 27 24.7706 HHLA3 0 genome.wustl.edu 37 1 70820683 70820683 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 70820683 70820683 C T SNP HHLA3 ENST00000432224 human ensembl 74_37 +1 known missense c.49 p.P17S 0.002 NULL NULL - no_errors HHLA3 HGNC ENSG00000197568 44 0 0 48 5 9.43396 LRRIQ3 0 genome.wustl.edu 37 1 74648472 74648472 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 74648472 74648472 C A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.323 p.G108V 0.124 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 49 0 0 35 12 25.5319 ST6GALNAC5 0 genome.wustl.edu 37 1 77333317 77333317 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 77333317 77333317 C T SNP ST6GALNAC5 ENST00000480428 human ensembl 74_37 +1 putative rna NULL NULL 0.999 - - - no_errors ST6GALNAC5 HGNC ENSG00000117069 129 0 0 97 23 19.1667 SSX2IP 0 genome.wustl.edu 37 1 85136860 85136860 + Nonsense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 85136860 85136860 C A SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known nonsense c.43 p.E15* 1.000 NULL pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 59 0 0 52 11 17.4603 CLCA4 0 genome.wustl.edu 37 1 87025638 87025638 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 87025638 87025638 G A SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known silent c.183 p.T61 0.003 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 153 0 0 124 36 22.5 CLCA4 0 genome.wustl.edu 37 1 87043755 87043755 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 87043755 87043755 G A SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.2122 p.G708R 1.000 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 21 0 0 21 5 19.2308 SLC2A5 0 genome.wustl.edu 37 1 9118284 9118284 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 9118284 9118284 G A SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known missense c.59 p.A20V 0.975 superfamily_MFS_dom_general_subst_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 73 0 0 37 15 28.8462 BTBD8 0 genome.wustl.edu 37 1 92568203 92568203 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 92568203 92568203 G T SNP BTBD8 ENST00000342818 human ensembl 74_37 +1 known missense c.521 p.R174I 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 70 0 0 49 12 19.6721 ABCA4 0 genome.wustl.edu 37 1 94520763 94520763 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 94520763 94520763 C A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.2491 p.G831W 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 81 0 0 61 29 32.2222 LPPR4 0 genome.wustl.edu 37 1 99771242 99771242 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 99771242 99771242 G A SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.968 p.G323D 1.000 smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 69 0 0 70 4 5.40541 HPS6 0 genome.wustl.edu 37 10 103825418 103825418 + Missense_Mutation SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 103825418 103825418 C G SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known missense c.187 p.P63A 0.000 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 9 0 0 7 4 36.3636 TMEM180 0 genome.wustl.edu 37 10 104231116 104231116 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 104231116 104231116 G A SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.791 p.R264Q 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 81 0 0 72 19 20.8791 DUSP5 0 genome.wustl.edu 37 10 112258088 112258088 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 112258088 112258088 C T SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.209 p.A70V 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 12 0 0 9 5 35.7143 VWA2 0 genome.wustl.edu 37 10 116049200 116049200 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 116049200 116049200 G A SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known missense c.2074 p.A692T 0.002 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 105 0 0 69 19 21.5909 HTRA1 0 genome.wustl.edu 37 10 124266390 124266390 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 124266390 124266390 G A SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.961 p.A321T 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 46 0 0 33 11 25 HMX3 0 genome.wustl.edu 37 10 124896863 124896863 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 124896863 124896863 G A SNP HMX3 ENST00000357878 human ensembl 74_37 +1 known silent c.690 p.T230 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX3 HGNC ENSG00000188620 25 0 0 15 5 25 HMX3 0 genome.wustl.edu 37 10 124896921 124896921 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 124896921 124896921 C T SNP HMX3 ENST00000357878 human ensembl 74_37 +1 known missense c.748 p.R250C 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 HMX3 HGNC ENSG00000188620 44 0 0 39 9 18.75 MMP21 0 genome.wustl.edu 37 10 127462428 127462428 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 127462428 127462428 C T SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known silent c.669 p.A223 0.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 64 0 0 61 22 26.506 MKI67 0 genome.wustl.edu 37 10 129913669 129913669 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 129913669 129913669 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.1003 p.A335T 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 125 0 0 77 27 25.9615 TTC40 0 genome.wustl.edu 37 10 134671251 134671251 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 134671251 134671251 G A SNP TTC40 ENST00000368586 human ensembl 74_37 -1 putative missense c.5417 p.A1806V 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 15 0 0 8 6 42.8571 KNDC1 0 genome.wustl.edu 37 10 134999993 134999993 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 134999993 134999993 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.1141 p.R381C 0.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 33 0 0 22 6 21.4286 PTPLA 0 genome.wustl.edu 37 10 17632370 17632370 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 17632370 17632370 T A SNP PTPLA ENST00000361271 human ensembl 74_37 -1 known missense c.860 p.D287V 1.000 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLA HGNC ENSG00000165996 96 0 0 85 25 22.7273 NEBL 0 genome.wustl.edu 37 10 21101815 21101815 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 21101815 21101815 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2401 p.V801M 0.905 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 48 0 0 53 24 31.1688 ARHGAP21 0 genome.wustl.edu 37 10 24909463 24909463 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 24909463 24909463 C A SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.1361 p.R454L 0.999 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 49 0 0 28 5 15.1515 YME1L1 0 genome.wustl.edu 37 10 27436362 27436362 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 27436362 27436362 G A SNP YME1L1 ENST00000477432 human ensembl 74_37 -1 putative missense c.404 p.T135M 0.001 NULL NULL - no_errors YME1L1 HGNC ENSG00000136758 48 0 0 36 15 29.4118 ARMC4 0 genome.wustl.edu 37 10 28272792 28272792 + Nonsense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 28272792 28272792 C A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known nonsense c.799 p.G267* 1.000 superfamily_GSKIP_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 56 0 0 50 3 5.66038 CCNY 0 genome.wustl.edu 37 10 35790516 35790516 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 35790516 35790516 G A SNP CCNY ENST00000470025 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CCNY HGNC ENSG00000108100 45 0 0 45 17 27.4194 RET 0 genome.wustl.edu 37 10 43606743 43606743 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 43606743 43606743 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.1352 p.T451M 0.006 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 149 0 0 115 39 25.3247 RET 0 genome.wustl.edu 37 10 43615633 43615633 + Silent SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 43615633 43615633 C G SNP RET ENST00000355710 human ensembl 74_37 +1 known silent c.2712 p.S904 1.000 pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 35 0 0 33 5 13.1579 VSTM4 0 genome.wustl.edu 37 10 50315810 50315810 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 50315810 50315810 G A SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known missense c.286 p.R96W 0.040 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 89 0 0 77 24 23.7624 OGDHL 0 genome.wustl.edu 37 10 50955158 50955158 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 50955158 50955158 A G SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1084 p.S362P 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 138 0 0 85 25 22.7273 OGDHL 0 genome.wustl.edu 37 10 50955201 50955201 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 50955201 50955201 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known silent c.1041 p.R347 0.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 97 0 0 77 22 22.2222 UCN3 0 genome.wustl.edu 37 10 5415694 5415694 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 5415694 5415694 C T SNP UCN3 ENST00000380433 human ensembl 74_37 +1 known missense c.11 p.P4L 0.006 NULL pfam_Urocortin_II/III - no_errors UCN3 HGNC ENSG00000178473 104 0 0 82 17 17.1717 PCDH15 0 genome.wustl.edu 37 10 55581906 55581906 + Silent SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 55581906 55581906 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.5580 p.S1860 0.006 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 209 0 0 148 33 18.232 FAM208B 0 genome.wustl.edu 37 10 5791440 5791440 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 5791440 5791440 C A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.6056 p.P2019H 0.025 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 196 0 0 184 11 5.64103 ANK3 0 genome.wustl.edu 37 10 61831291 61831291 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 61831291 61831291 T C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.9348 p.K3116 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 189 0 0 137 38 21.7143 ANK3 0 genome.wustl.edu 37 10 61958143 61958143 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 61958143 61958143 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.1644 p.A548 0.001 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 104 0 0 85 17 16.6667 DNA2 0 genome.wustl.edu 37 10 70202690 70202690 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 70202690 70202690 T C SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.1657 p.M553V 0.620 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 18 0 0 24 4 14.2857 TET1 0 genome.wustl.edu 37 10 70332938 70332938 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 70332938 70332938 G T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.843 p.K281N 0.978 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 94 0 0 82 20 19.6078 TET1 0 genome.wustl.edu 37 10 70450669 70450669 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 70450669 70450669 G A SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5509 p.A1837T 0.964 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 141 0 0 86 39 31.2 H2AFY2 0 genome.wustl.edu 37 10 71860046 71860046 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 71860046 71860046 C T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known silent c.771 p.V257 0.463 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 24 0 0 16 10 38.4615 PALD1 0 genome.wustl.edu 37 10 72298758 72298758 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 72298758 72298758 C T SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known silent c.1563 p.S521 0.988 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 90 0 0 72 20 21.7391 CDH23 0 genome.wustl.edu 37 10 73405660 73405660 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 73405660 73405660 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.1348 p.V450I 0.930 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 47 0 0 29 13 30.9524 ENSG00000270002 0 genome.wustl.edu 37 10 87406943 87406943 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 87406943 87406943 G A SNP ENSG00000270002 ENST00000474115 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-93H12.4 Clone_based_vega_gene ENSG00000270002 262 2 0.757576 190 51 21.1618 FAM35A 0 genome.wustl.edu 37 10 88911847 88911847 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 88911847 88911847 A T SNP FAM35A ENST00000298786 human ensembl 74_37 +1 known missense c.736 p.I246F 0.030 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 61 0 0 38 14 26.9231 PCGF5 0 genome.wustl.edu 37 10 93038067 93038067 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 93038067 93038067 C T SNP PCGF5 ENST00000336126 human ensembl 74_37 +1 known silent c.765 p.F255 0.653 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC ENSG00000180628 53 0 0 42 13 23.6364 ENTPD1 0 genome.wustl.edu 37 10 97605164 97605164 + Silent SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 97605164 97605164 C A SNP ENTPD1 ENST00000371207 human ensembl 74_37 +1 known silent c.660 p.T220 0.924 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 188 0 0 130 63 32.6425 DNTT 0 genome.wustl.edu 37 10 98079060 98079060 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 98079060 98079060 G A SNP DNTT ENST00000371174 human ensembl 74_37 +1 known silent c.420 p.P140 0.004 pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 142 0 0 112 32 22.2222 BIRC2 0 genome.wustl.edu 37 11 102248749 102248749 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 102248749 102248749 G A SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known silent c.1692 p.R564 0.122 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 92 0 0 68 30 30.6122 MMP8 0 genome.wustl.edu 37 11 102586154 102586154 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 102586154 102586154 C A SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.917 p.R306M 0.045 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 59 0 0 50 26 34.2105 ATM 0 genome.wustl.edu 37 11 108129784 108129784 + Silent SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 108129784 108129784 A C SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.2448 p.A816 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 38 0 0 30 7 18.9189 MUC2 0 genome.wustl.edu 37 11 1094719 1094719 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 1094719 1094719 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.5807 p.T1936I 0.007 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 102 0 0 93 8 7.92079 TEX12 0 genome.wustl.edu 37 11 112042549 112042549 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 112042549 112042549 A T SNP TEX12 ENST00000280358 human ensembl 74_37 +1 known missense c.282 p.K94N 1.000 NULL NULL - no_errors TEX12 HGNC ENSG00000150783 105 0 0 87 25 22.3214 NCAM1 0 genome.wustl.edu 37 11 113078710 113078710 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 113078710 113078710 A G SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known missense c.872 p.H291R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 13 0 0 13 5 27.7778 CADM1 0 genome.wustl.edu 37 11 115102146 115102146 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 115102146 115102146 T G SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.489 p.E163D 1.000 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 106 0 0 81 26 24.2991 CEP164 0 genome.wustl.edu 37 11 117261922 117261922 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 117261922 117261922 G T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known missense c.2274 p.E758D 0.724 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 25 0 0 25 3 10.7143 SCN2B 0 genome.wustl.edu 37 11 118039430 118039430 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 118039430 118039430 G A SNP SCN2B ENST00000278947 human ensembl 74_37 -1 known missense c.107 p.A36V 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 235 0 0 141 56 28.4264 MICAL2 0 genome.wustl.edu 37 11 12225871 12225871 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 12225871 12225871 C T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known silent c.339 p.V113 0.985 pfam_mOase_FAD-bd,pfam_FAD_bind_dom pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 106 0 0 56 27 32.5301 MICAL2 0 genome.wustl.edu 37 11 12264287 12264287 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 12264287 12264287 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.2626 p.A876T 0.991 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 82 0 0 62 23 27.0588 HSPA8 0 genome.wustl.edu 37 11 122930436 122930436 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 122930436 122930436 C T SNP HSPA8 ENST00000534624 human ensembl 74_37 -1 known missense c.865 p.E289K 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 60 0 0 39 12 23.5294 SIAE 0 genome.wustl.edu 37 11 124524549 124524549 + Splice_Site SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 124524549 124524549 A G SNP SIAE ENST00000263593 human ensembl 74_37 -1 known splice_site c.544+2 e4+2 0.940 - - - no_errors SIAE HGNC ENSG00000110013 184 0 0 147 40 21.3904 MUC5B 0 genome.wustl.edu 37 11 1253735 1253735 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 1253735 1253735 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.1908 p.S636 0.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 26 0 0 10 8 44.4444 MUC5B 0 genome.wustl.edu 37 11 1268790 1268790 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 1268790 1268790 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.10689 p.S3563 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 84 0 0 62 16 20.5128 NTM 0 genome.wustl.edu 37 11 132204964 132204964 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 132204964 132204964 G A SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.992 p.S331N 0.986 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 184 0 0 145 46 24.0838 GLB1L3 0 genome.wustl.edu 37 11 134182352 134182352 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 134182352 134182352 G A SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.1397 p.R466H 0.000 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 50 0 0 40 14 25.9259 FAR1 0 genome.wustl.edu 37 11 13749177 13749177 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 13749177 13749177 C T SNP FAR1 ENST00000354817 human ensembl 74_37 +1 known silent c.1332 p.Y444 0.996 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 94 0 0 99 6 5.71429 KRTAP5-1 0 genome.wustl.edu 37 11 1605918 1605918 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 1605918 1605918 C T SNP KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known missense c.562 p.G188S 0.006 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 89 0 0 67 22 24.7191 NAV2 0 genome.wustl.edu 37 11 20078176 20078176 + Splice_Site SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 20078176 20078176 T C SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known splice_site c.4999+2 e21+2 0.000 - - - no_errors NAV2 HGNC ENSG00000166833 48 0 0 30 14 31.8182 TCP11L1 0 genome.wustl.edu 37 11 33087384 33087384 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 33087384 33087384 A G SNP TCP11L1 ENST00000527661 human ensembl 74_37 +1 known silent c.981 p.L327 0.998 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 233 0 0 184 60 24.5902 KIAA1549L 0 genome.wustl.edu 37 11 33564959 33564959 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 33564959 33564959 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.959 p.T320M 0.001 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 195 0 0 147 42 22.2222 LINC00610 0 genome.wustl.edu 37 11 36293244 36293244 + RNA SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 36293244 36293244 G T SNP LINC00610 ENST00000355500 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00610 HGNC ENSG00000196559 29 0 0 29 6 17.1429 ANO9 0 genome.wustl.edu 37 11 420496 420496 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 420496 420496 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known missense c.1753 p.R585W 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 35 0 0 13 7 35 CHST1 0 genome.wustl.edu 37 11 45672341 45672341 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 45672341 45672341 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known nonsense c.133 p.R45* 1.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 115 0 0 83 28 25.2252 CREB3L1 0 genome.wustl.edu 37 11 46339020 46339020 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 46339020 46339020 G A SNP CREB3L1 ENST00000288400 human ensembl 74_37 +1 known missense c.1240 p.V414I 0.814 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 61 0 0 36 19 34.5455 ZNF408 0 genome.wustl.edu 37 11 46726912 46726912 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 46726912 46726912 G A SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known silent c.1662 p.P554 0.607 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 38 0 0 37 12 24.4898 LRP4 0 genome.wustl.edu 37 11 46918528 46918528 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 46918528 46918528 C T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.814 p.A272T 0.940 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 125 0 0 74 26 26 PACSIN3 0 genome.wustl.edu 37 11 47202237 47202237 + Silent SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 47202237 47202237 G T SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known silent c.216 p.P72 0.882 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 35 0 0 24 8 25 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 78 0 0 81 10 10.989 OR1S1 0 genome.wustl.edu 37 11 57982468 57982468 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 57982468 57982468 T C SNP OR1S1 ENST00000309433 human ensembl 74_37 +1 known silent c.252 p.I84 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC ENSG00000172774 195 0 0 134 50 27.1739 OR5B2 0 genome.wustl.edu 37 11 58190331 58190331 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 58190331 58190331 G A SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.404 p.T135M 0.108 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B2 HGNC ENSG00000172365 82 0 0 56 27 32.5301 GLYATL2 0 genome.wustl.edu 37 11 58602201 58602201 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 58602201 58602201 G T SNP GLYATL2 ENST00000287275 human ensembl 74_37 -1 known missense c.586 p.L196I 0.001 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 57 0 0 43 19 30.6452 OSBP 0 genome.wustl.edu 37 11 59344479 59344479 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 59344479 59344479 A G SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.2080 p.Y694H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 163 0 0 91 42 31.5789 PATL1 0 genome.wustl.edu 37 11 59419061 59419061 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 59419061 59419061 G A SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known nonsense c.1480 p.R494* 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 23 0 0 24 7 22.5806 AHNAK 0 genome.wustl.edu 37 11 62303479 62303479 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 62303479 62303479 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.92 p.G31D 0.996 superfamily_PDZ,smart_PDZ,pfscan_PDZ superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 70 0 0 60 14 18.9189 FAM160A2 0 genome.wustl.edu 37 11 6239210 6239210 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 6239210 6239210 G A SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known nonsense c.1648 p.R550* 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 74 0 0 51 11 17.7419 INTS5 0 genome.wustl.edu 37 11 62414812 62414812 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 62414812 62414812 T C SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known missense c.2740 p.M914V 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 228 0 0 152 49 24.3781 CNGA4 0 genome.wustl.edu 37 11 6261463 6261463 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 6261463 6261463 G A SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.439 p.A147T 0.001 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 214 1 0.465116 159 60 27.3973 LGALS12 0 genome.wustl.edu 37 11 63283104 63283104 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 63283104 63283104 A G SNP LGALS12 ENST00000340246 human ensembl 74_37 +1 known silent c.786 p.R262 0.607 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS12 HGNC ENSG00000133317 78 0 0 42 11 20.7547 RARRES3 0 genome.wustl.edu 37 11 63307030 63307030 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 63307030 63307030 C T SNP RARRES3 ENST00000255688 human ensembl 74_37 +1 known missense c.52 p.R18C 0.271 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 105 0 0 95 29 23.3871 SLC22A11 0 genome.wustl.edu 37 11 64337280 64337280 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 64337280 64337280 G A SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known silent c.1539 p.P513 0.420 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 126 0 0 80 29 26.6055 EHD1 0 genome.wustl.edu 37 11 64622143 64622143 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 64622143 64622143 C T SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known missense c.1267 p.G423R 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 176 0 0 113 48 29.8137 SLC22A20 0 genome.wustl.edu 37 11 64981434 64981434 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 64981434 64981434 G A SNP SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.907 - - - no_errors SLC22A20 HGNC ENSG00000197847 17 0 0 25 9 26.4706 EHBP1L1 0 genome.wustl.edu 37 11 65347567 65347567 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 65347567 65347567 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.328 p.R110W 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 22 0 0 27 3 10 SIPA1 0 genome.wustl.edu 37 11 65408583 65408583 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 65408583 65408583 C T SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known missense c.191 p.T64M 0.004 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 41 0 0 23 7 23.3333 MUS81 0 genome.wustl.edu 37 11 65632486 65632486 + Splice_Site SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 65632486 65632486 A G SNP MUS81 ENST00000308110 human ensembl 74_37 +1 known splice_site c.1273-2 e13-2 0.990 - - - no_errors MUS81 HGNC ENSG00000172732 112 1 0.884956 90 27 23.0769 RRP8 0 genome.wustl.edu 37 11 6622702 6622702 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 6622702 6622702 A G SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known silent c.594 p.C198 0.334 NULL pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 110 0 0 78 29 27.1028 BBS1 0 genome.wustl.edu 37 11 66287195 66287195 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 66287195 66287195 C T SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known silent c.810 p.P270 0.056 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 52 0 0 41 4 8.88889 DCHS1 0 genome.wustl.edu 37 11 6651257 6651257 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 6651257 6651257 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.4768 p.G1590S 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 53 0 0 31 16 34.0426 DCHS1 0 genome.wustl.edu 37 11 6661447 6661447 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 6661447 6661447 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.1398 p.N466 0.975 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 28 0 0 23 7 23.3333 LRFN4 0 genome.wustl.edu 37 11 66625421 66625421 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 66625421 66625421 G A SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known missense c.206 p.R69H 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 79 0 0 45 8 15.0943 PC 0 genome.wustl.edu 37 11 66638919 66638919 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 66638919 66638919 G A SNP PC ENST00000393958 human ensembl 74_37 -1 known silent c.354 p.Y118 0.983 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 162 0 0 110 41 27.1523 CORO1B 0 genome.wustl.edu 37 11 67207611 67207611 + Splice_Site SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 67207611 67207611 C T SNP CORO1B ENST00000539724 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors CORO1B HGNC ENSG00000172725 92 0 0 85 17 16.6667 DEAF1 0 genome.wustl.edu 37 11 688398 688398 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 688398 688398 G A SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known silent c.450 p.V150 0.963 NULL pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 67 0 0 50 16 24.2424 OR2D2 0 genome.wustl.edu 37 11 6913341 6913341 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 6913341 6913341 G A SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.391 p.R131C 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 95 0 0 63 18 22.2222 XRRA1 0 genome.wustl.edu 37 11 74554923 74554923 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 74554923 74554923 G A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.2101 p.R701W 0.931 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 22 0 0 15 4 21.0526 MYO7A 0 genome.wustl.edu 37 11 76910863 76910863 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 76910863 76910863 G A SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.4852 p.A1618T 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 42 0 0 23 5 17.8571 PDDC1 0 genome.wustl.edu 37 11 770850 770850 + RNA SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 770850 770850 T C SNP PDDC1 ENST00000529966 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors PDDC1 HGNC ENSG00000177225 105 0 0 83 23 21.6981 OLR1 0 genome.wustl.edu 37 12 10321711 10321711 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 10321711 10321711 A G SNP OLR1 ENST00000309539 human ensembl 74_37 -1 known missense c.140 p.L47P 0.908 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors OLR1 HGNC ENSG00000173391 49 0 0 55 20 26.6667 STAB2 0 genome.wustl.edu 37 12 104031830 104031830 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 104031830 104031830 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.746 p.H249R 0.225 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 158 0 0 114 75 39.6825 BTBD11 0 genome.wustl.edu 37 12 108010875 108010875 + Missense_Mutation SNP G G C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 108010875 108010875 G C SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.2011 p.D671H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 140 0 0 101 60 37.2671 WSCD2 0 genome.wustl.edu 37 12 108600079 108600079 + Silent SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 108600079 108600079 C A SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known silent c.396 p.G132 1.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 96 0 0 72 16 18.1818 SSH1 0 genome.wustl.edu 37 12 109181783 109181783 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 109181783 109181783 G A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.3131 p.S1044L 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 123 0 0 102 38 27.1429 MMAB 0 genome.wustl.edu 37 12 109998867 109998867 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 109998867 109998867 C T SNP MMAB ENST00000545712 human ensembl 74_37 -1 known missense c.562 p.V188M 1.000 pfam_AdoCbl_synth_CblAdoTrfase-like,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_synth_CblAdoTrfase-like pfam_AdoCbl_synth_CblAdoTrfase-like,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_synth_CblAdoTrfase-like - no_errors MMAB HGNC ENSG00000139428 68 0 0 50 31 38.2716 HECTD4 0 genome.wustl.edu 37 12 112647918 112647918 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 112647918 112647918 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.7252 p.A2418T 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 84 0 0 77 21 21.4286 HECTD4 0 genome.wustl.edu 37 12 112669482 112669482 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 112669482 112669482 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.5519 p.A1840V 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 28 0 0 16 20 55.5556 OAS1 0 genome.wustl.edu 37 12 113354535 113354535 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 113354535 113354535 G A SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known silent c.876 p.T292 0.097 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 104 1 0.952381 88 12 12 TPCN1 0 genome.wustl.edu 37 12 113733862 113733862 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 113733862 113733862 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.2648 p.R883H 1.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 49 0 0 60 11 15.493 TBX5 0 genome.wustl.edu 37 12 114793421 114793421 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 114793421 114793421 A G SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known silent c.1473 p.H491 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 58 0 0 70 15 17.6471 SIRT4 0 genome.wustl.edu 37 12 120750797 120750797 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 120750797 120750797 T C SNP SIRT4 ENST00000202967 human ensembl 74_37 +1 known silent c.903 p.N301 0.958 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC ENSG00000089163 150 0 0 138 33 19.2982 P2RX4 0 genome.wustl.edu 37 12 121660807 121660807 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 121660807 121660807 C T SNP P2RX4 ENST00000337233 human ensembl 74_37 +1 known missense c.485 p.A162V 0.982 pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 45 0 0 27 15 35.7143 B3GNT4 0 genome.wustl.edu 37 12 122691861 122691861 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 122691861 122691861 G A SNP B3GNT4 ENST00000324189 human ensembl 74_37 +1 known missense c.1063 p.E355K 1.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 34 0 0 40 10 20 AACS 0 genome.wustl.edu 37 12 125613904 125613904 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 125613904 125613904 G A SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.1447 p.G483S 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 257 0 0 296 16 5.12821 FZD10 0 genome.wustl.edu 37 12 130648101 130648101 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 130648101 130648101 C T SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.614 p.A205V 0.995 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 34 0 0 38 6 13.6364 PIWIL1 0 genome.wustl.edu 37 12 130856060 130856060 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 130856060 130856060 G T SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.2503 p.A835S 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 146 0 0 118 62 34.4444 ULK1 0 genome.wustl.edu 37 12 132393282 132393282 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 132393282 132393282 G A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.410 p.R137H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 38 0 0 35 12 25.5319 EP400 0 genome.wustl.edu 37 12 132549334 132549334 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 132549334 132549334 C A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.8564 p.P2855Q 0.241 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 44 0 0 66 7 9.58904 EP400 0 genome.wustl.edu 37 12 132551511 132551511 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 132551511 132551511 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.8854 p.A2952T 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 22 0 0 27 4 12.9032 GOLGA3 0 genome.wustl.edu 37 12 133349729 133349729 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 133349729 133349729 T C SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.4459 p.S1487G 0.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 9 0 0 13 2 13.3333 GRIN2B 0 genome.wustl.edu 37 12 13716251 13716251 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 13716251 13716251 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.3921 p.F1307 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 134 0 0 117 36 23.5294 PDE3A 0 genome.wustl.edu 37 12 20792849 20792849 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 20792849 20792849 A G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.2209 p.N737D 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 76 0 0 53 28 34.5679 PPFIBP1 0 genome.wustl.edu 37 12 27829455 27829455 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 27829455 27829455 G A SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.1556 p.R519Q 0.999 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 113 0 0 113 35 23.6486 PPFIBP1 0 genome.wustl.edu 37 12 27829478 27829478 + Missense_Mutation SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 27829478 27829478 C G SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.1579 p.R527G 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 93 0 0 100 30 23.0769 CACNA1C 0 genome.wustl.edu 37 12 2789628 2789628 + Silent SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 2789628 2789628 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.5544 p.L1848 0.000 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 9 0 0 7 8 53.3333 PTHLH 0 genome.wustl.edu 37 12 28116399 28116399 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 28116399 28116399 G A SNP PTHLH ENST00000354417 human ensembl 74_37 -1 known nonsense c.406 p.Q136* 1.000 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 86 0 0 102 17 14.2857 NRIP2 0 genome.wustl.edu 37 12 2936456 2936456 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 2936456 2936456 C T SNP NRIP2 ENST00000337508 human ensembl 74_37 -1 known missense c.763 p.D255N 0.994 pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP2 HGNC ENSG00000053702 52 0 0 21 14 40 TSPAN11 0 genome.wustl.edu 37 12 31135580 31135580 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 31135580 31135580 G A SNP TSPAN11 ENST00000261177 human ensembl 74_37 +1 known silent c.570 p.V190 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 26 0 0 9 9 50 EFCAB4B 0 genome.wustl.edu 37 12 3763474 3763474 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 3763474 3763474 C A SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.950 p.R317L 0.030 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 90 0 0 77 21 21.4286 ARID2 0 genome.wustl.edu 37 12 46285562 46285562 + Splice_Site SNP G G C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 46285562 46285562 G C SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known splice_site c.4923-1 e17-1 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 85 0 0 58 25 30.1205 DYRK4 0 genome.wustl.edu 37 12 4708291 4708291 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 4708291 4708291 A G SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.658 p.M220V 0.823 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 DYRK4 HGNC ENSG00000010219 87 0 0 97 25 20.4918 ADCY6 0 genome.wustl.edu 37 12 49170977 49170977 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 49170977 49170977 C T SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.1286 p.C429Y 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 214 0 0 119 107 47.3451 KCNA6 0 genome.wustl.edu 37 12 4920472 4920472 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 4920472 4920472 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.1265 p.T422M 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 111 0 0 92 34 26.9841 WNT1 0 genome.wustl.edu 37 12 49374303 49374303 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 49374303 49374303 C T SNP WNT1 ENST00000293549 human ensembl 74_37 +1 known missense c.455 p.T152M 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 42 0 0 52 10 16.129 KRT72 0 genome.wustl.edu 37 12 52981443 52981443 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 52981443 52981443 G A SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1282 p.R428C 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 148 0 0 93 63 40.3846 HOXC6 0 genome.wustl.edu 37 12 54423566 54423566 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 54423566 54423566 C T SNP HOXC6 ENST00000243108 human ensembl 74_37 +1 known silent c.528 p.N176 0.923 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC6 HGNC ENSG00000197757 215 0 0 160 36 18.3673 GDF11 0 genome.wustl.edu 37 12 56142639 56142639 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 56142639 56142639 G A SNP GDF11 ENST00000257868 human ensembl 74_37 +1 known missense c.715 p.D239N 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC ENSG00000135414 40 0 0 29 9 23.6842 ERBB3 0 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.310 p.V104M 0.994 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 182 0 0 175 31 15.0485 BAZ2A 0 genome.wustl.edu 37 12 56993984 56993984 + Splice_Site SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 56993984 56993984 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known splice_site c.4898+1 e24+1 1.000 - - - no_errors BAZ2A HGNC ENSG00000076108 48 0 0 42 17 28.8136 NACA 0 genome.wustl.edu 37 12 57112756 57112756 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 57112756 57112756 G A SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.2558 p.T853M 0.001 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 25 0 0 23 7 23.3333 PRIM1 0 genome.wustl.edu 37 12 57127957 57127957 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 57127957 57127957 C T SNP PRIM1 ENST00000338193 human ensembl 74_37 -1 known missense c.1217 p.R406Q 0.941 NULL pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc - no_errors PRIM1 HGNC ENSG00000198056 36 0 0 30 19 38.7755 DDIT3 0 genome.wustl.edu 37 12 57910907 57910907 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 57910907 57910907 C A SNP DDIT3 ENST00000551116 human ensembl 74_37 -1 known missense c.264 p.E88D 1.000 pirsf_DNA_damage_induc_transcript_3 pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP - no_errors DDIT3 HGNC ENSG00000175197 89 0 0 50 53 51.4563 KIF5A 0 genome.wustl.edu 37 12 57966494 57966494 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 57966494 57966494 C T SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known silent c.1701 p.N567 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 185 0 0 182 40 18.018 ARHGEF25 0 genome.wustl.edu 37 12 58006728 58006728 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 58006728 58006728 C T SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.230 p.A77V 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 258 0 0 177 120 40.404 TMEM5-AS1 0 genome.wustl.edu 37 12 64215892 64215892 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 64215892 64215892 G A SNP TMEM5-AS1 ENST00000546214 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TMEM5-AS1 HGNC ENSG00000255850 41 0 0 42 7 14.2857 XPOT 0 genome.wustl.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 64812728 64812728 A G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.343 p.T115A 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 116 0 0 111 6 5.12821 XPOT 0 genome.wustl.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 64812733 64812733 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.348 p.E116 0.939 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 119 0 0 118 8 6.34921 XPOT 0 genome.wustl.edu 37 12 64812808 64812808 + Silent SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 64812808 64812808 C G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.423 p.L141 0.776 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 123 0 0 140 13 8.49673 CHD4 0 genome.wustl.edu 37 12 6705221 6705221 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 6705221 6705221 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.1975 p.V659M 1.000 pfam_Chromo_domain,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 101 0 0 110 6 5.17241 CCT2 0 genome.wustl.edu 37 12 69995115 69995115 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 69995115 69995115 C T SNP CCT2 ENST00000544368 human ensembl 74_37 +1 putative silent c.1476 p.H492 0.000 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 87 0 0 75 59 44.0299 TPH2 0 genome.wustl.edu 37 12 72335393 72335393 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 72335393 72335393 C T SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known silent c.135 p.D45 0.918 pirsf_Tyrosine_3-monooxygenase-like 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 65 0 0 41 15 26.7857 TRHDE-AS1 0 genome.wustl.edu 37 12 72667406 72667406 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 72667406 72667406 G A SNP TRHDE-AS1 ENST00000426250 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors TRHDE-AS1 HGNC ENSG00000236333 40 0 0 18 15 45.4545 CLSTN3 0 genome.wustl.edu 37 12 7303192 7303192 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 7303192 7303192 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known silent c.2298 p.R766 0.903 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 60 0 0 50 25 33.3333 RIMKLB 0 genome.wustl.edu 37 12 8906585 8906585 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 8906585 8906585 A T SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.593 p.E198V 1.000 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 90 0 0 92 51 35.6643 CCER1 0 genome.wustl.edu 37 12 91348255 91348255 + Nonsense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 91348255 91348255 C A SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known nonsense c.265 p.G89* 0.325 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 44 0 0 37 15 28.8462 PZP 0 genome.wustl.edu 37 12 9318785 9318785 + Silent SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 9318785 9318785 T G SNP PZP ENST00000261336 human ensembl 74_37 -1 known silent c.2121 p.V707 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 52 0 0 60 12 16.6667 SLC9A7P1 0 genome.wustl.edu 37 12 98848682 98848682 + RNA SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 98848682 98848682 G T SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.998 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 13 0 0 13 6 31.5789 NALCN 0 genome.wustl.edu 37 13 101735484 101735484 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 101735484 101735484 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.3649 p.A1217T 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 82 0 0 57 17 22.973 ING1 0 genome.wustl.edu 37 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 111372025 111372025 C T SNP ING1 ENST00000375774 human ensembl 74_37 +1 known nonsense c.1015 p.R339* 0.949 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 62 0 0 50 17 25.3731 MIPEP 0 genome.wustl.edu 37 13 24413805 24413805 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 24413805 24413805 C T SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known missense c.1321 p.A441T 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 59 0 0 71 13 15.4762 FLT3 0 genome.wustl.edu 37 13 28592636 28592636 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 28592636 28592636 T G SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.2509 p.M837L 0.811 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 88 0 0 65 18 21.6867 SLC46A3 0 genome.wustl.edu 37 13 29287531 29287531 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 29287531 29287531 C T SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known missense c.346 p.V116I 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 43 0 0 41 10 19.6078 STARD13 0 genome.wustl.edu 37 13 33703176 33703176 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 33703176 33703176 C T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.1638 p.T546 0.198 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 89 0 0 66 24 26.6667 STOML3 0 genome.wustl.edu 37 13 39541050 39541050 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 39541050 39541050 G A SNP STOML3 ENST00000379631 human ensembl 74_37 -1 known missense c.788 p.T263M 1.000 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 65 0 0 69 20 22.4719 ZC3H13 0 genome.wustl.edu 37 13 46542109 46542109 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 46542109 46542109 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.3851 p.R1284Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 195 0 0 149 47 23.9796 KCNRG 0 genome.wustl.edu 37 13 50590127 50590127 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 50590127 50590127 G A SNP KCNRG ENST00000312942 human ensembl 74_37 +1 known silent c.498 p.L166 0.990 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCNRG HGNC ENSG00000198553 105 0 0 60 20 25 SLITRK5 0 genome.wustl.edu 37 13 88329509 88329509 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 88329509 88329509 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1866 p.T622 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 164 0 0 161 47 22.5962 MBNL2 0 genome.wustl.edu 37 13 98009823 98009823 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 98009823 98009823 G A SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.892 p.V298I 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 131 0 0 107 31 22.4638 DOCK9 0 genome.wustl.edu 37 13 99533825 99533825 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 99533825 99533825 C A SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.2735 p.R912M 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 DOCK9 HGNC ENSG00000088387 15 0 0 10 4 28.5714 TECPR2 0 genome.wustl.edu 37 14 102964447 102964447 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 102964447 102964447 G A SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known silent c.4089 p.A1363 0.000 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 63 0 0 55 13 19.1176 EXOC3L4 0 genome.wustl.edu 37 14 103573763 103573763 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 103573763 103573763 G A SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known silent c.1584 p.P528 0.162 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 84 0 0 60 16 21.0526 ZFYVE21 0 genome.wustl.edu 37 14 104199060 104199060 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 104199060 104199060 C T SNP ZFYVE21 ENST00000216602 human ensembl 74_37 +1 known silent c.684 p.G228 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE21 HGNC ENSG00000100711 121 0 0 131 11 7.74648 AHNAK2 0 genome.wustl.edu 37 14 105414282 105414282 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 105414282 105414282 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.7506 p.I2502 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 383 0 0 243 100 29.1545 TOX4 0 genome.wustl.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 21961062 21961062 T A SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.1287 p.A429 0.939 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 257 0 0 159 60 27.3973 RBM23 0 genome.wustl.edu 37 14 23375437 23375437 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 23375437 23375437 C T SNP RBM23 ENST00000359890 human ensembl 74_37 -1 known missense c.368 p.R123H 0.491 tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM23 HGNC ENSG00000100461 74 0 0 60 13 17.8082 HOMEZ 0 genome.wustl.edu 37 14 23746064 23746064 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 23746064 23746064 G A SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known nonsense c.379 p.R127* 1.000 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 205 0 0 141 51 26.5625 CPNE6 0 genome.wustl.edu 37 14 24546405 24546405 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 24546405 24546405 G A SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.1507 p.D503N 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 80 0 0 62 12 16.2162 IPO4 0 genome.wustl.edu 37 14 24651519 24651519 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 24651519 24651519 A C SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known missense c.2563 p.F855V 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 45 0 0 31 5 13.8889 GZMH 0 genome.wustl.edu 37 14 25077550 25077550 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 25077550 25077550 G A SNP GZMH ENST00000216338 human ensembl 74_37 -1 known nonsense c.124 p.Q42* 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 236 0 0 172 63 26.8085 NPAS3 0 genome.wustl.edu 37 14 33684481 33684481 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 33684481 33684481 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known silent c.234 p.L78 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom 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 139 0 0 86 32 27.1186 MIPOL1 0 genome.wustl.edu 37 14 37969213 37969213 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 37969213 37969213 T A SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.1132 p.S378T 0.929 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 94 0 0 67 31 31.6327 LRFN5 0 genome.wustl.edu 37 14 42356114 42356114 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 42356114 42356114 G A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.286 p.A96T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 90 0 0 48 20 29.4118 LRFN5 0 genome.wustl.edu 37 14 42360855 42360855 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 42360855 42360855 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known silent c.1788 p.H596 0.886 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 55 0 0 45 16 26.2295 ATP5S 0 genome.wustl.edu 37 14 50789395 50789395 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 50789395 50789395 G A SNP ATP5S ENST00000311459 human ensembl 74_37 +1 known missense c.319 p.A107T 1.000 NULL NULL - no_errors ATP5S HGNC ENSG00000125375 84 0 0 59 24 28.9157 CGRRF1 0 genome.wustl.edu 37 14 55004968 55004968 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 55004968 55004968 G A SNP CGRRF1 ENST00000216420 human ensembl 74_37 +1 known missense c.866 p.C289Y 0.992 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC ENSG00000100532 104 0 0 54 17 23.9437 GPR135 0 genome.wustl.edu 37 14 59930776 59930776 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 59930776 59930776 C T SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known missense c.1169 p.R390H 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 72 0 0 50 13 20.6349 DHRS7 0 genome.wustl.edu 37 14 60619659 60619659 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 60619659 60619659 G A SNP DHRS7 ENST00000216500 human ensembl 74_37 -1 known missense c.631 p.R211W 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7 HGNC ENSG00000100612 37 0 0 33 17 34 DCAF5 0 genome.wustl.edu 37 14 69520750 69520750 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 69520750 69520750 C T SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known missense c.2653 p.G885R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 71 0 0 66 13 16.4557 ZFYVE1 0 genome.wustl.edu 37 14 73440842 73440842 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 73440842 73440842 C T SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known missense c.2047 p.E683K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 131 0 0 71 38 34.8624 YLPM1 0 genome.wustl.edu 37 14 75295977 75295977 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 75295977 75295977 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known silent c.6225 p.S2075 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 78 0 0 64 21 24.7059 FLVCR2 0 genome.wustl.edu 37 14 76045412 76045412 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 76045412 76045412 G A SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.97 p.V33I 0.999 superfamily_Trimer_LpxA-like pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 199 0 0 114 67 37.0166 NRXN3 0 genome.wustl.edu 37 14 78710050 78710050 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 78710050 78710050 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.614 p.R205H 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 104 0 0 53 24 31.1688 KCNK13 0 genome.wustl.edu 37 14 90528631 90528631 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 90528631 90528631 G A SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.82 p.V28M 0.985 prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 9 0 0 5 7 58.3333 BCL11B 0 genome.wustl.edu 37 14 99641282 99641282 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 99641282 99641282 C T SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.1891 p.G631R 0.030 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 8 0 0 8 3 27.2727 BCL11B 0 genome.wustl.edu 37 14 99641913 99641913 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 99641913 99641913 C T SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known silent c.1260 p.P420 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 26 0 0 13 5 27.7778 PCSK6 0 genome.wustl.edu 37 15 101938761 101938761 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 101938761 101938761 C T SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known missense c.841 p.D281N 0.999 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 93 0 0 61 20 24.6914 CYFIP1 0 genome.wustl.edu 37 15 22997854 22997854 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 22997854 22997854 C T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known nonsense c.3100 p.R1034* 0.550 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 173 0 0 115 32 21.7687 HERC2P2 0 genome.wustl.edu 37 15 23330960 23330960 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 23330960 23330960 C T SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors HERC2P2 HGNC ENSG00000140181 23 0 0 16 5 23.8095 NDN 0 genome.wustl.edu 37 15 23932077 23932077 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 23932077 23932077 C T SNP NDN ENST00000331837 human ensembl 74_37 -1 known silent c.288 p.A96 0.990 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 57 0 0 44 13 22.807 SNORD116-20 0 genome.wustl.edu 37 15 25333948 25333948 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 25333948 25333948 C T SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors SNORD116-20 HGNC ENSG00000261069 146 0 0 116 38 24.6753 SNHG14 0 genome.wustl.edu 37 15 25477424 25477424 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 25477424 25477424 G A SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 51 0 0 30 12 28.5714 GABRB3 0 genome.wustl.edu 37 15 26866614 26866614 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 26866614 26866614 G T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.308 p.P103H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAb_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 113 0 0 75 24 24.2424 OTUD7A 0 genome.wustl.edu 37 15 31776256 31776256 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 31776256 31776256 G A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.2043 p.R681 0.998 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 11 0 0 4 11 73.3333 AQR 0 genome.wustl.edu 37 15 35174732 35174732 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 35174732 35174732 G A SNP AQR ENST00000156471 human ensembl 74_37 -1 known nonsense c.3136 p.R1046* 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 33 0 0 29 8 21.6216 ZNF770 0 genome.wustl.edu 37 15 35273570 35273570 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 35273570 35273570 G A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.2066 p.S689L 0.023 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 36 0 0 36 9 20 PLA2G4D 0 genome.wustl.edu 37 15 42379564 42379564 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 42379564 42379564 C T SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known silent c.189 p.T63 0.025 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 245 0 0 153 46 23.1156 CDAN1 0 genome.wustl.edu 37 15 43021535 43021535 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 43021535 43021535 C T SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known silent c.2433 p.S811 0.053 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 115 0 0 86 26 23.2143 ELL3 0 genome.wustl.edu 37 15 44066858 44066858 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 44066858 44066858 T G SNP ELL3 ENST00000319359 human ensembl 74_37 -1 known missense c.759 p.E253D 0.727 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 197 0 0 152 41 21.2435 SPG11 0 genome.wustl.edu 37 15 44856842 44856842 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 44856842 44856842 A G SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.7054 p.Y2352H 0.975 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 68 0 0 42 21 33.3333 SORD 0 genome.wustl.edu 37 15 45364620 45364620 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 45364620 45364620 T C SNP SORD ENST00000267814 human ensembl 74_37 +1 known missense c.892 p.F298L 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors SORD HGNC ENSG00000140263 26 0 0 6 9 60 DUOX2 0 genome.wustl.edu 37 15 45392007 45392007 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 45392007 45392007 C T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.3268 p.V1090I 0.947 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 108 0 0 77 19 19.7917 AP4E1 0 genome.wustl.edu 37 15 51250726 51250726 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 51250726 51250726 C T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.1586 p.T529M 0.002 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 28 0 0 28 11 28.2051 MYO5A 0 genome.wustl.edu 37 15 52668563 52668563 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 52668563 52668563 G A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.2401 p.R801W 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 38 0 0 41 3 6.81818 CGNL1 0 genome.wustl.edu 37 15 57730401 57730401 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 57730401 57730401 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known silent c.204 p.S68 0.010 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 93 0 0 95 14 12.844 SLTM 0 genome.wustl.edu 37 15 59182634 59182634 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 59182634 59182634 C T SNP SLTM ENST00000380516 human ensembl 74_37 -1 known missense c.1925 p.R642H 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 87 0 0 92 27 22.6891 IGDCC3 0 genome.wustl.edu 37 15 65627671 65627671 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 65627671 65627671 C T SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.643 p.A215T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 IGDCC3 HGNC ENSG00000174498 119 0 0 85 25 22.7273 SKOR1 0 genome.wustl.edu 37 15 68119726 68119726 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 68119726 68119726 A G SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known silent c.1560 p.A520 0.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 12 0 0 9 3 25 PIAS1 0 genome.wustl.edu 37 15 68466135 68466135 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 68466135 68466135 C T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known silent c.1074 p.D358 1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 37 0 0 26 7 21.2121 FEM1B 0 genome.wustl.edu 37 15 68583314 68583314 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 68583314 68583314 G A SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.1618 p.V540I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 170 1 0.584795 118 49 29.3413 NOX5 0 genome.wustl.edu 37 15 69329504 69329504 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 69329504 69329504 G A SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known missense c.1325 p.R442H 1.000 superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 61 0 0 39 16 29.0909 PAQR5 0 genome.wustl.edu 37 15 69677138 69677138 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 69677138 69677138 C T SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known missense c.302 p.A101V 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 112 0 0 80 37 31.6239 ADPGK 0 genome.wustl.edu 37 15 73052857 73052857 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 73052857 73052857 G A SNP ADPGK ENST00000569534 human ensembl 74_37 -1 known missense c.245 p.A82V 0.999 NULL NULL - no_errors ADPGK HGNC ENSG00000159322 146 0 0 90 21 18.9189 STOML1 0 genome.wustl.edu 37 15 74281035 74281035 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 74281035 74281035 G A SNP STOML1 ENST00000316900 human ensembl 74_37 -1 known missense c.499 p.R167C 0.989 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin - no_errors STOML1 HGNC ENSG00000067221 125 0 0 109 34 23.7762 CSK 0 genome.wustl.edu 37 15 75091203 75091203 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 75091203 75091203 C T SNP CSK ENST00000220003 human ensembl 74_37 +1 known missense c.166 p.R56C 1.000 pfam_SH3_domain,pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 75 0 0 48 12 20 C15orf39 0 genome.wustl.edu 37 15 75500385 75500385 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 75500385 75500385 G A SNP C15orf39 ENST00000360639 human ensembl 74_37 +1 known missense c.1996 p.V666M 0.000 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 137 0 0 89 29 24.5763 CTSH 0 genome.wustl.edu 37 15 79220087 79220087 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 79220087 79220087 C T SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.667 p.G223S 0.993 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 88 0 0 67 23 25.5556 EFTUD1 0 genome.wustl.edu 37 15 82444713 82444713 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 82444713 82444713 T C SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known silent c.2082 p.E694 0.943 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 117 0 0 88 30 25.4237 MAN2A2 0 genome.wustl.edu 37 15 91453768 91453768 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 91453768 91453768 G A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.1615 p.A539T 0.991 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 74 0 0 46 23 33.3333 GRIN2A 0 genome.wustl.edu 37 16 10274018 10274018 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 10274018 10274018 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.251 p.T84M 1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 157 1 0.632911 115 38 24.8366 PTX4 0 genome.wustl.edu 37 16 1537746 1537746 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 1537746 1537746 G A SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.367 p.R123W 0.092 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 75 0 0 57 18 24 MYH11 0 genome.wustl.edu 37 16 15820852 15820852 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 15820852 15820852 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known silent c.3732 p.A1244 0.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 387 0 0 289 94 24.5431 MAPK8IP3 0 genome.wustl.edu 37 16 1810419 1810419 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 1810419 1810419 A C SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.1340 p.K447T 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 121 0 0 87 24 21.6216 ARL6IP1 0 genome.wustl.edu 37 16 18806821 18806821 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 18806821 18806821 G A SNP ARL6IP1 ENST00000304414 human ensembl 74_37 -1 known missense c.373 p.R125C 1.000 pfam_Reticulon pfam_Reticulon - no_errors ARL6IP1 HGNC ENSG00000170540 97 0 0 56 15 21.1268 RRN3P1 0 genome.wustl.edu 37 16 21817457 21817457 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 21817457 21817457 G A SNP RRN3P1 ENST00000546471 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors RRN3P1 HGNC ENSG00000248124 17 0 0 24 4 14.2857 MLST8 0 genome.wustl.edu 37 16 2256037 2256037 + RNA SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 2256037 2256037 C G SNP MLST8 ENST00000561651 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MLST8 HGNC ENSG00000167965 170 0 0 126 25 16.5563 DCTN5 0 genome.wustl.edu 37 16 23676952 23676952 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 23676952 23676952 C T SNP DCTN5 ENST00000300087 human ensembl 74_37 +1 known silent c.354 p.R118 0.999 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN5 HGNC ENSG00000166847 68 0 0 45 13 22.4138 TNRC6A 0 genome.wustl.edu 37 16 24802783 24802783 + Silent SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 24802783 24802783 A T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known silent c.2820 p.P940 0.990 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 80 0 0 71 14 16.4706 IL21R 0 genome.wustl.edu 37 16 27445682 27445682 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 27445682 27445682 G A SNP IL21R ENST00000337929 human ensembl 74_37 +1 known missense c.64 p.D22N 0.035 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 56 0 0 33 15 31.25 GTF3C1 0 genome.wustl.edu 37 16 27499592 27499592 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 27499592 27499592 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.3656 p.R1219Q 0.998 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 236 0 0 164 44 21.1538 KIAA0556 0 genome.wustl.edu 37 16 27761440 27761440 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 27761440 27761440 G A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known silent c.3159 p.T1053 0.257 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 79 0 0 53 13 19.697 LAT 0 genome.wustl.edu 37 16 28997873 28997873 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 28997873 28997873 C T SNP LAT ENST00000395461 human ensembl 74_37 +1 known missense c.431 p.A144V 0.624 NULL prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC ENSG00000213658 69 0 0 73 4 5.19481 GDPD3 0 genome.wustl.edu 37 16 30124114 30124114 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 30124114 30124114 G A SNP GDPD3 ENST00000406256 human ensembl 74_37 -1 known silent c.183 p.N61 0.995 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD3 HGNC ENSG00000102886 67 0 0 52 16 23.5294 PRR14 0 genome.wustl.edu 37 16 30665624 30665624 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 30665624 30665624 G A SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known missense c.622 p.A208T 0.000 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 306 0 0 204 70 25.5474 ZNF668 0 genome.wustl.edu 37 16 31075642 31075642 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 31075642 31075642 C T SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known missense c.208 p.A70T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 130 0 0 94 21 18.2609 ITGAX 0 genome.wustl.edu 37 16 31368597 31368597 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 31368597 31368597 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.342 p.H114 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 18 0 0 12 3 20 ITGAD 0 genome.wustl.edu 37 16 31422475 31422475 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 31422475 31422475 G A SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.1435 p.A479T 0.998 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 159 0 0 98 30 23.4375 TGFB1I1 0 genome.wustl.edu 37 16 31487822 31487822 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 31487822 31487822 C T SNP TGFB1I1 ENST00000394863 human ensembl 74_37 +1 known silent c.909 p.G303 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 30 0 0 20 6 23.0769 ITFG1 0 genome.wustl.edu 37 16 47493063 47493063 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 47493063 47493063 C T SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.232 p.A78T 1.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 75 0 0 73 13 15.1163 ABCC11 0 genome.wustl.edu 37 16 48234210 48234210 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 48234210 48234210 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.2059 p.V687I 0.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 94 0 0 76 13 14.6067 LPCAT2 0 genome.wustl.edu 37 16 55613052 55613052 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 55613052 55613052 C T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1346 p.T449M 0.779 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 125 0 0 73 31 29.8077 MMP15 0 genome.wustl.edu 37 16 58073847 58073847 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 58073847 58073847 T C SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known missense c.509 p.V170A 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP15 HGNC ENSG00000102996 65 0 0 63 7 10 CAPN15 0 genome.wustl.edu 37 16 602866 602866 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 602866 602866 C T SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.2908 p.R970C 0.995 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 36 0 0 25 8 24.2424 EXOC3L1 0 genome.wustl.edu 37 16 67221678 67221678 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 67221678 67221678 C T SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.490 p.V164M 1.000 NULL pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 116 0 0 65 29 30.8511 CENPT 0 genome.wustl.edu 37 16 67866027 67866027 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 67866027 67866027 G T SNP CENPT ENST00000562338 human ensembl 74_37 -1 known missense c.302 p.P101H 0.000 NULL NULL - no_errors CENPT HGNC ENSG00000102901 54 0 0 38 16 29.6296 SMPD3 0 genome.wustl.edu 37 16 68405383 68405383 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 68405383 68405383 G A SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known silent c.702 p.V234 0.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 34 0 0 26 14 35 AP1G1 0 genome.wustl.edu 37 16 71779166 71779166 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 71779166 71779166 T A SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known missense c.1949 p.D650V 1.000 pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 46 0 0 31 18 36.7347 RHBDL1 0 genome.wustl.edu 37 16 726267 726267 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 726267 726267 C A SNP RHBDL1 ENST00000219551 human ensembl 74_37 +1 known missense c.166 p.P56T 0.004 NULL pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL1 HGNC ENSG00000103269 16 0 0 4 6 60 CDYL2 0 genome.wustl.edu 37 16 80718950 80718950 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 80718950 80718950 C T SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.101 p.S34N 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 232 0 0 137 45 24.7253 MSLNL 0 genome.wustl.edu 37 16 820111 820111 + Silent SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 820111 820111 C G SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known silent c.2874 p.G958 0.001 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 9 0 0 8 4 33.3333 KLHL36 0 genome.wustl.edu 37 16 84690609 84690609 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 84690609 84690609 G A SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.196 p.V66M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 75 0 0 65 20 23.5294 ZCCHC14 0 genome.wustl.edu 37 16 87445497 87445497 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 87445497 87445497 C T SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.2419 p.A807T 1.000 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 11 0 0 6 4 40 CDH15 0 genome.wustl.edu 37 16 89257844 89257844 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 89257844 89257844 G A SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.1339 p.G447S 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 46 0 0 47 27 36.4865 LMF1 0 genome.wustl.edu 37 16 918962 918962 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 918962 918962 G A SNP LMF1 ENST00000262301 human ensembl 74_37 -1 known missense c.1511 p.A504V 0.000 pfam_LMF pfam_LMF - no_errors LMF1 HGNC ENSG00000103227 113 0 0 103 26 20.155 MYH13 0 genome.wustl.edu 37 17 10248819 10248819 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 10248819 10248819 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.1378 p.G460R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 203 0 0 133 30 18.4049 MYH2 0 genome.wustl.edu 37 17 10448726 10448726 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 10448726 10448726 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.442 p.R148C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 273 0 0 184 63 25.5061 MYH3 0 genome.wustl.edu 37 17 10535908 10535908 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 10535908 10535908 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.4841 p.R1614Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 377 0 0 284 94 24.8677 HS3ST3A1 0 genome.wustl.edu 37 17 13400128 13400128 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 13400128 13400128 T G SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known missense c.607 p.M203L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 81 0 0 62 10 13.8889 NCOR1 0 genome.wustl.edu 37 17 16012111 16012111 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 16012111 16012111 T A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.2171 p.E724V 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 84 0 0 45 25 35.7143 MYO15A 0 genome.wustl.edu 37 17 18042911 18042911 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 18042911 18042911 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.5197 p.R1733W 0.338 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 37 0 0 37 12 24.4898 SMCR8 0 genome.wustl.edu 37 17 18220410 18220410 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 18220410 18220410 A C SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known missense c.1307 p.E436A 0.034 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 91 0 0 70 14 16.6667 SPECC1 0 genome.wustl.edu 37 17 20135577 20135577 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 20135577 20135577 A T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.2210 p.D737V 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 141 0 0 99 33 25 FOXN1 0 genome.wustl.edu 37 17 26851931 26851931 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 26851931 26851931 G T SNP FOXN1 ENST00000226247 human ensembl 74_37 +1 known missense c.534 p.E178D 0.996 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 57 0 0 32 13 28.8889 NUFIP2 0 genome.wustl.edu 37 17 27613259 27613259 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 27613259 27613259 T C SNP NUFIP2 ENST00000225388 human ensembl 74_37 -1 known missense c.1753 p.T585A 0.108 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 78 0 0 59 21 26.25 ANKRD13B 0 genome.wustl.edu 37 17 27938981 27938981 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 27938981 27938981 C T SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known missense c.1057 p.R353C 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 59 0 0 44 13 22.807 SLFN11 0 genome.wustl.edu 37 17 33690288 33690288 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 33690288 33690288 G A SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.539 p.S180L 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 191 0 0 144 42 22.5806 KRT12 0 genome.wustl.edu 37 17 39020063 39020063 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 39020063 39020063 G A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known silent c.861 p.D287 0.999 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 51 0 0 39 11 22 KRT23 0 genome.wustl.edu 37 17 39092801 39092801 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 39092801 39092801 C T SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.55 p.G19R 0.047 NULL pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 77 0 0 60 18 23.0769 MLX 0 genome.wustl.edu 37 17 40721266 40721266 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 40721266 40721266 G A SNP MLX ENST00000246912 human ensembl 74_37 +1 known silent c.483 p.Q161 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLX HGNC ENSG00000108788 115 0 0 116 30 20.5479 CNTNAP1 0 genome.wustl.edu 37 17 40839042 40839042 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 40839042 40839042 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1022 p.R341H 0.667 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 66 0 0 54 17 23.9437 KIF18B 0 genome.wustl.edu 37 17 43008979 43008979 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 43008979 43008979 C T SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.1544 p.R515H 0.000 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 113 0 0 95 8 7.76699 RPRML 0 genome.wustl.edu 37 17 45056238 45056238 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 45056238 45056238 C T SNP RPRML ENST00000322329 human ensembl 74_37 -1 known missense c.136 p.A46T 1.000 NULL NULL - no_errors RPRML HGNC ENSG00000179673 13 0 0 9 5 35.7143 PELP1 0 genome.wustl.edu 37 17 4585839 4585839 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 4585839 4585839 C A SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.600 p.K200N 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 44 0 0 43 19 30.6452 SNF8 0 genome.wustl.edu 37 17 47014454 47014454 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 47014454 47014454 C T SNP SNF8 ENST00000502492 human ensembl 74_37 -1 known missense c.277 p.V93M 1.000 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 - no_errors SNF8 HGNC ENSG00000159210 224 0 0 137 50 26.738 PLD2 0 genome.wustl.edu 37 17 4722104 4722104 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 4722104 4722104 G A SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.2159 p.R720H 0.997 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 136 0 0 111 40 26.4901 SPAG9 0 genome.wustl.edu 37 17 49098699 49098699 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 49098699 49098699 C T SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.811 p.G271R 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 97 0 0 72 34 32.0755 CA10 0 genome.wustl.edu 37 17 50235179 50235179 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 50235179 50235179 C T SNP CA10 ENST00000573294 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CA10 HGNC ENSG00000154975 104 0 0 52 21 28.7671 NUP88 0 genome.wustl.edu 37 17 5291184 5291184 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 5291184 5291184 G A SNP NUP88 ENST00000573584 human ensembl 74_37 -1 known missense c.1684 p.L562F 1.000 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 67 0 0 62 12 16.2162 COIL 0 genome.wustl.edu 37 17 55019433 55019433 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 55019433 55019433 G A SNP COIL ENST00000240316 human ensembl 74_37 -1 known missense c.1610 p.A537V 0.768 NULL NULL - no_errors COIL HGNC ENSG00000121058 79 0 0 95 28 22.7642 OR4D1 0 genome.wustl.edu 37 17 56233062 56233062 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 56233062 56233062 A G SNP OR4D1 ENST00000268912 human ensembl 74_37 +1 known missense c.548 p.Q183R 0.824 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D1 HGNC ENSG00000141194 107 0 0 96 33 25.5814 TEX14 0 genome.wustl.edu 37 17 56663303 56663303 + Missense_Mutation SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 56663303 56663303 C G SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.2947 p.E983Q 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 175 0 0 107 41 27.7027 BRIP1 0 genome.wustl.edu 37 17 59763509 59763509 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 59763509 59763509 G A SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known missense c.2593 p.R865W 0.980 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 71 0 0 71 27 27.551 ACE 0 genome.wustl.edu 37 17 61574527 61574527 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 61574527 61574527 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.3721 p.G1241S 0.043 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 35 0 0 18 4 18.1818 LRRC37A3 0 genome.wustl.edu 37 17 62892219 62892219 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 62892219 62892219 G T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.1157 p.P386H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 340 0 0 262 36 12.0805 ABCA8 0 genome.wustl.edu 37 17 66925743 66925743 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 66925743 66925743 T C SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.898 p.M300V 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 65 0 0 56 9 13.8462 ABCA9 0 genome.wustl.edu 37 17 67041434 67041434 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 67041434 67041434 T A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.348 p.E116D 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 133 0 0 92 16 14.8148 RNMTL1 0 genome.wustl.edu 37 17 694859 694859 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 694859 694859 G T SNP RNMTL1 ENST00000304478 human ensembl 74_37 +1 known missense c.813 p.W271C 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 116 0 0 74 28 27.451 SLC25A19 0 genome.wustl.edu 37 17 73274374 73274374 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 73274374 73274374 T C SNP SLC25A19 ENST00000320362 human ensembl 74_37 -1 known missense c.502 p.S168G 0.995 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A19 HGNC ENSG00000125454 176 0 0 127 56 30.6011 POLR2A 0 genome.wustl.edu 37 17 7399624 7399624 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 7399624 7399624 C T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.322 p.R108C 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 176 0 0 147 32 17.8771 EVPL 0 genome.wustl.edu 37 17 74019498 74019498 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 74019498 74019498 T C SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.355 p.I119V 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 91 0 0 56 20 26.3158 DNAH17 0 genome.wustl.edu 37 17 76525611 76525611 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 76525611 76525611 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.3450 p.I1150 0.956 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 157 0 0 123 39 24.0741 CARD14 0 genome.wustl.edu 37 17 78156499 78156499 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 78156499 78156499 G A SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known missense c.259 p.A87T 0.994 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 58 0 0 33 15 31.25 FASN 0 genome.wustl.edu 37 17 80049217 80049217 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 80049217 80049217 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.1373 p.A458V 0.949 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 28 0 0 15 5 25 FOXK2 0 genome.wustl.edu 37 17 80559219 80559219 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 80559219 80559219 C T SNP FOXK2 ENST00000335255 human ensembl 74_37 +1 known silent c.1827 p.S609 0.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC ENSG00000141568 110 0 0 77 14 15.3846 ODF4 0 genome.wustl.edu 37 17 8243371 8243371 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 8243371 8243371 T C SNP ODF4 ENST00000328248 human ensembl 74_37 +1 known missense c.2 p.M1T 0.000 NULL NULL - no_errors ODF4 HGNC ENSG00000184650 31 0 0 20 4 16.6667 MYH10 0 genome.wustl.edu 37 17 8451698 8451698 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 8451698 8451698 T C SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known silent c.1062 p.L354 0.889 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 70 0 0 58 18 23.6842 TUBB6 0 genome.wustl.edu 37 18 12325604 12325604 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 12325604 12325604 G A SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known silent c.816 p.P272 0.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 91 0 0 53 16 23.1884 TUBB6 0 genome.wustl.edu 37 18 12325851 12325851 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 12325851 12325851 G A SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.1063 p.D355N 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 261 1 0.381679 183 51 21.7949 ZNF519 0 genome.wustl.edu 37 18 14105730 14105730 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 14105730 14105730 C T SNP ZNF519 ENST00000590202 human ensembl 74_37 -1 known missense c.809 p.R270H 0.998 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 ZNF519 HGNC ENSG00000175322 77 0 0 44 11 20 NPC1 0 genome.wustl.edu 37 18 21114441 21114441 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 21114441 21114441 G A SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.3560 p.A1187V 1.000 pfam_Patched,tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 55 0 0 37 11 22.9167 HRH4 0 genome.wustl.edu 37 18 22057071 22057071 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 22057071 22057071 G A SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.718 p.A240T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 126 0 0 98 28 22.2222 CHST9 0 genome.wustl.edu 37 18 24722666 24722666 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 24722666 24722666 T G SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.108 p.E36D 1.000 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 69 0 0 39 16 29.0909 CCDC178 0 genome.wustl.edu 37 18 30926291 30926291 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 30926291 30926291 C T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.542 p.R181Q 0.992 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 83 0 0 58 19 24.6753 ENSG00000267462 0 genome.wustl.edu 37 18 57677572 57677572 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 57677572 57677572 G A SNP ENSG00000267462 ENST00000585691 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 59 0 0 42 17 28.8136 ENSG00000267462 0 genome.wustl.edu 37 18 57678348 57678348 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 57678348 57678348 C T SNP ENSG00000267462 ENST00000585691 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 18 0 0 10 9 47.3684 PIGN 0 genome.wustl.edu 37 18 59806256 59806256 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 59806256 59806256 C A SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.1076 p.S359I 1.000 NULL pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 25 0 0 14 4 22.2222 LAMA1 0 genome.wustl.edu 37 18 7049225 7049225 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 7049225 7049225 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.620 p.S207N 0.919 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 127 0 0 120 29 19.4631 PTPRM 0 genome.wustl.edu 37 18 8370957 8370957 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 8370957 8370957 A G SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3127 p.T1043A 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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 PTPRM HGNC ENSG00000173482 84 0 0 52 17 24.6377 COL5A3 0 genome.wustl.edu 37 19 10087919 10087919 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 10087919 10087919 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.3274 p.D1092N 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 77 0 0 51 22 30.137 LYL1 0 genome.wustl.edu 37 19 13211729 13211729 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 13211729 13211729 G T SNP LYL1 ENST00000264824 human ensembl 74_37 -1 known missense c.257 p.P86Q 0.171 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors LYL1 HGNC ENSG00000104903 10 0 0 4 3 42.8571 DDX39A 0 genome.wustl.edu 37 19 14521142 14521142 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 14521142 14521142 C T SNP DDX39A ENST00000242776 human ensembl 74_37 -1 known missense c.618 p.M206I 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 DDX39A HGNC ENSG00000123136 78 0 0 45 14 23.7288 PKN1 0 genome.wustl.edu 37 19 14561788 14561788 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 14561788 14561788 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known silent c.855 p.P285 0.224 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 18 0 0 12 4 25 APC2 0 genome.wustl.edu 37 19 1460271 1460271 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 1460271 1460271 C T SNP APC2 ENST00000233607 human ensembl 74_37 +1 known silent c.1395 p.Y465 0.997 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 115 0 0 71 36 33.6449 TECR 0 genome.wustl.edu 37 19 14675085 14675085 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 14675085 14675085 C T SNP TECR ENST00000436007 human ensembl 74_37 +1 known missense c.520 p.R174C 1.000 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECR HGNC ENSG00000099797 48 0 0 39 13 25 PCSK4 0 genome.wustl.edu 37 19 1483747 1483747 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 1483747 1483747 G A SNP PCSK4 ENST00000588195 human ensembl 74_37 -1 known missense c.1279 p.R427W 0.958 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 30 0 0 26 9 25.7143 EMR2 0 genome.wustl.edu 37 19 14876168 14876168 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 14876168 14876168 T G SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.870 p.R290S 0.000 prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 169 0 0 110 33 23.0769 CALR3 0 genome.wustl.edu 37 19 16591434 16591434 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 16591434 16591434 G A SNP CALR3 ENST00000269881 human ensembl 74_37 -1 known silent c.1002 p.G334 0.002 superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000269058 56 0 0 35 18 33.9623 MYO9B 0 genome.wustl.edu 37 19 17316104 17316104 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 17316104 17316104 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.5023 p.H1675Y 0.990 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 89 0 0 54 15 21.7391 COLGALT1 0 genome.wustl.edu 37 19 17679366 17679366 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 17679366 17679366 C T SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.673 p.R225C 0.983 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 84 0 0 64 19 22.8916 CILP2 0 genome.wustl.edu 37 19 19655136 19655136 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 19655136 19655136 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known silent c.1782 p.A594 0.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 184 0 0 103 36 25.8993 ZNF681 0 genome.wustl.edu 37 19 23926579 23926579 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 23926579 23926579 T G SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.1773 p.Q591H 0.024 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 45 0 0 34 7 17.0732 THOP1 0 genome.wustl.edu 37 19 2807737 2807737 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 2807737 2807737 G A SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known missense c.1184 p.R395Q 0.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 29 0 0 28 11 28.2051 GIPC3 0 genome.wustl.edu 37 19 3590055 3590055 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 3590055 3590055 C T SNP GIPC3 ENST00000322315 human ensembl 74_37 +1 known missense c.806 p.T269M 0.829 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 25 0 0 14 8 36.3636 ATP4A 0 genome.wustl.edu 37 19 36045880 36045880 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 36045880 36045880 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.2425 p.V809M 1.000 tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 70 0 0 41 17 29.3103 LRFN3 0 genome.wustl.edu 37 19 36431206 36431206 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 36431206 36431206 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known silent c.879 p.C293 0.982 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 22 0 0 18 5 21.7391 ZNF568 0 genome.wustl.edu 37 19 37440779 37440779 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 37440779 37440779 C T SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known nonsense c.724 p.R242* 0.333 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 62 0 0 71 17 19.3182 SIPA1L3 0 genome.wustl.edu 37 19 38655373 38655373 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 38655373 38655373 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.4035 p.G1345 0.030 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 33 0 0 28 10 26.3158 GGN 0 genome.wustl.edu 37 19 38877282 38877282 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 38877282 38877282 C T SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.620 p.R207H 0.374 NULL NULL - no_errors GGN HGNC ENSG00000179168 27 0 0 18 9 33.3333 RYR1 0 genome.wustl.edu 37 19 38933087 38933087 + Silent SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 38933087 38933087 C A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.264 p.G88 0.895 pfam_Ins145_P3_rcpt 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 59 0 0 49 3 5.76923 RYR1 0 genome.wustl.edu 37 19 38951153 38951153 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 38951153 38951153 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.2499 p.P833 0.001 NULL 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 144 0 0 106 40 27.3973 RYR1 0 genome.wustl.edu 37 19 38956958 38956958 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 38956958 38956958 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.3098 p.S1033N 1.000 pfam_Ryanodine_rcpt,pfscan_B30.2/SPRY 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 16 0 0 15 3 16.6667 DAPK3 0 genome.wustl.edu 37 19 3964788 3964788 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 3964788 3964788 G A SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known silent c.264 p.D88 1.000 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 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 102 0 0 74 23 23.7113 EID2 0 genome.wustl.edu 37 19 40030704 40030704 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 40030704 40030704 C T SNP EID2 ENST00000390658 human ensembl 74_37 -1 known missense c.16 p.A6T 0.339 NULL NULL - no_errors EID2 HGNC ENSG00000176396 35 0 0 25 3 10.7143 FCGBP 0 genome.wustl.edu 37 19 40421158 40421158 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 40421158 40421158 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.2763 p.R921 0.002 pfam_VWF_type-D,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 37 0 0 24 5 17.2414 MAP3K10 0 genome.wustl.edu 37 19 40718777 40718777 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 40718777 40718777 C T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.1618 p.R540C 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 36 0 0 11 7 38.8889 CYP2B7P1 0 genome.wustl.edu 37 19 41454964 41454964 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 41454964 41454964 G A SNP CYP2B7P1 ENST00000599198 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 35 0 0 29 12 29.2683 CYP2F1 0 genome.wustl.edu 37 19 41627868 41627868 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 41627868 41627868 G A SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.652 p.D218N 0.998 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 106 1 0.934579 65 22 25.2874 ZNF574 0 genome.wustl.edu 37 19 42583217 42583217 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 42583217 42583217 C T SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known silent c.729 p.P243 0.866 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 122 0 0 94 31 24.8 IRGC 0 genome.wustl.edu 37 19 44223329 44223329 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 44223329 44223329 G A SNP IRGC ENST00000244314 human ensembl 74_37 +1 known missense c.619 p.V207M 0.000 pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 71 0 0 51 16 23.8806 ZNF221 0 genome.wustl.edu 37 19 44470166 44470166 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 44470166 44470166 G A SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known missense c.512 p.R171H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF221 HGNC ENSG00000159905 138 0 0 100 24 19.3548 CEACAM20 0 genome.wustl.edu 37 19 45029181 45029181 + RNA SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 45029181 45029181 G T SNP CEACAM20 ENST00000316962 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CEACAM20 HGNC ENSG00000176395 110 0 0 70 20 22.2222 CEACAM16 0 genome.wustl.edu 37 19 45207422 45207422 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 45207422 45207422 G A SNP CEACAM16 ENST00000405314 human ensembl 74_37 +1 known missense c.517 p.V173I 0.010 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM16 HGNC ENSG00000213892 10 0 0 7 4 36.3636 CEACAM16 0 genome.wustl.edu 37 19 45209019 45209019 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 45209019 45209019 G A SNP CEACAM16 ENST00000405314 human ensembl 74_37 +1 known missense c.821 p.G274D 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM16 HGNC ENSG00000213892 74 0 0 54 19 26.0274 APOE 0 genome.wustl.edu 37 19 45412333 45412333 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 45412333 45412333 G A SNP APOE ENST00000252486 human ensembl 74_37 +1 known silent c.780 p.K260 0.995 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOE HGNC ENSG00000130203 10 0 0 5 4 44.4444 NKPD1 0 genome.wustl.edu 37 19 45655517 45655517 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 45655517 45655517 G A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known silent c.2178 p.G726 0.000 NULL pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 18 0 0 13 5 27.7778 RTN2 0 genome.wustl.edu 37 19 45997939 45997939 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 45997939 45997939 C T SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.404 p.R135H 0.002 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 124 0 0 82 28 25.4545 FBXO46 0 genome.wustl.edu 37 19 46216144 46216144 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 46216144 46216144 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.610 p.A204T 0.054 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 41 0 0 23 9 28.125 PRKD2 0 genome.wustl.edu 37 19 47177820 47177820 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 47177820 47177820 T C SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.2597 p.H866R 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 42 0 0 24 10 29.4118 EHD2 0 genome.wustl.edu 37 19 48220236 48220236 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 48220236 48220236 C T SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.367 p.R123C 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 81 0 0 71 22 23.6559 FUT1 0 genome.wustl.edu 37 19 49253904 49253904 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 49253904 49253904 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.635 p.R212H 0.003 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 179 0 0 139 52 27.2251 FGF21 0 genome.wustl.edu 37 19 49260233 49260233 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 49260233 49260233 G A SNP FGF21 ENST00000222157 human ensembl 74_37 +1 known missense c.286 p.V96I 0.409 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF21 HGNC ENSG00000105550 199 0 0 146 45 23.5602 BCAT2 0 genome.wustl.edu 37 19 49300467 49300467 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 49300467 49300467 G A SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known silent c.819 p.Y273 1.000 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 25 0 0 23 3 11.5385 PRR12 0 genome.wustl.edu 37 19 50099902 50099902 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 50099902 50099902 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.2310 p.T770 0.371 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 42 0 0 30 17 36.1702 POLD1 0 genome.wustl.edu 37 19 50912024 50912024 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 50912024 50912024 C T SNP POLD1 ENST00000595904 human ensembl 74_37 +1 novel silent c.1836 p.R612 0.000 smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 86 0 0 52 16 23.5294 SHANK1 0 genome.wustl.edu 37 19 51169601 51169601 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 51169601 51169601 A G SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.5640 p.S1880 0.996 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,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 SHANK1 HGNC ENSG00000161681 39 0 0 22 12 35.2941 ACPT 0 genome.wustl.edu 37 19 51296990 51296990 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 51296990 51296990 G A SNP ACPT ENST00000270594 human ensembl 74_37 +1 known missense c.416 p.R139Q 0.006 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 68 0 0 52 12 18.75 SIGLEC22P 0 genome.wustl.edu 37 19 51714747 51714747 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 51714747 51714747 C T SNP SIGLEC22P ENST00000602065 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC22P HGNC ENSG00000268849 67 0 0 62 27 30.3371 SIGLEC12 0 genome.wustl.edu 37 19 52002870 52002870 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 52002870 52002870 C T SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known silent c.909 p.T303 0.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 84 0 0 70 26 27.0833 PTPRS 0 genome.wustl.edu 37 19 5220166 5220166 + Splice_Site SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 5220166 5220166 C A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known splice_site c.3553-1 e21-1 1.000 - - - no_errors PTPRS HGNC ENSG00000105426 34 0 0 22 9 29.0323 FPR2 0 genome.wustl.edu 37 19 52271988 52271988 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 52271988 52271988 G A SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.77 p.R26Q 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 108 0 0 48 25 34.2466 ZNF610 0 genome.wustl.edu 37 19 52869924 52869924 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 52869924 52869924 T C SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known silent c.1293 p.N431 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF610 HGNC ENSG00000167554 72 0 0 44 12 21.4286 ZNF845 0 genome.wustl.edu 37 19 53854380 53854380 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 53854380 53854380 T C SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.452 p.L151P 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 194 0 0 140 51 26.7016 NLRP12 0 genome.wustl.edu 37 19 54312988 54312988 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 54312988 54312988 G A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1925 p.A642V 0.840 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 NLRP12 HGNC ENSG00000142405 77 0 0 52 23 30.6667 ISOC2 0 genome.wustl.edu 37 19 55966693 55966693 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 55966693 55966693 G A SNP ISOC2 ENST00000085068 human ensembl 74_37 -1 known missense c.401 p.T134M 0.694 pfam_Isochorismatase-like,superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC2 HGNC ENSG00000063241 47 0 0 29 12 29.2683 ZNF628 0 genome.wustl.edu 37 19 55995151 55995151 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 55995151 55995151 C T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.2591 p.T864M 0.144 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 48 0 0 37 11 22.9167 ZNF805 0 genome.wustl.edu 37 19 57760018 57760018 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 57760018 57760018 G A SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known missense c.203 p.G68E 0.000 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 ZNF805 HGNC ENSG00000204524 11 0 0 7 5 41.6667 ZNF460 0 genome.wustl.edu 37 19 57802724 57802724 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 57802724 57802724 G A SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.815 p.R272Q 0.008 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF460 HGNC ENSG00000197714 124 0 0 84 34 28.8136 ZSCAN1 0 genome.wustl.edu 37 19 58565161 58565161 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 58565161 58565161 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.969 p.P323 0.789 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 95 0 0 82 24 22.6415 ZNF8 0 genome.wustl.edu 37 19 58806666 58806666 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 58806666 58806666 C T SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known nonsense c.1492 p.R498* 0.003 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 ZNF8 Uniprot_gn ENSG00000083842 285 1 0.34965 201 62 23.5741 RPS5 0 genome.wustl.edu 37 19 58904472 58904472 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 58904472 58904472 G A SNP RPS5 ENST00000196551 human ensembl 74_37 +1 known missense c.238 p.G80S 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 73 0 0 62 12 16.2162 ZNF132 0 genome.wustl.edu 37 19 58945448 58945448 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 58945448 58945448 C T SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known missense c.1363 p.G455R 0.164 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 ZNF132 HGNC ENSG00000131849 104 0 0 83 27 24.5455 MZF1 0 genome.wustl.edu 37 19 59082434 59082434 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 59082434 59082434 C A SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.323 p.R108L 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 41 0 0 22 14 38.8889 RNF126 0 genome.wustl.edu 37 19 651816 651816 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 651816 651816 C T SNP RNF126 ENST00000292363 human ensembl 74_37 -1 known missense c.238 p.G80R 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ENSG00000070423 80 0 0 70 20 22.2222 TNFSF14 0 genome.wustl.edu 37 19 6665011 6665011 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 6665011 6665011 C T SNP TNFSF14 ENST00000599359 human ensembl 74_37 -1 known missense c.649 p.V217I 0.977 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF14 HGNC ENSG00000125735 150 0 0 90 27 23.0769 TIMM44 0 genome.wustl.edu 37 19 7999073 7999073 + Silent SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 7999073 7999073 G T SNP TIMM44 ENST00000270538 human ensembl 74_37 -1 known silent c.444 p.G148 0.004 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 130 0 0 91 47 34.058 PTBP1 0 genome.wustl.edu 37 19 805125 805125 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 805125 805125 G A SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.830 p.R277H 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 237 2 0.83682 161 48 22.9665 ELAVL1 0 genome.wustl.edu 37 19 8056648 8056648 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 8056648 8056648 C T SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.133 p.G45R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 83 0 0 82 27 24.7706 ELANE 0 genome.wustl.edu 37 19 855752 855752 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 855752 855752 C T SNP ELANE ENST00000263621 human ensembl 74_37 +1 known silent c.555 p.N185 0.676 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,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 ELANE HGNC ENSG00000197561 117 0 0 84 23 21.4953 OLFM2 0 genome.wustl.edu 37 19 9965006 9965006 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 9965006 9965006 G A SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known silent c.1221 p.D407 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 162 0 0 123 41 25 OLFM2 0 genome.wustl.edu 37 19 9965191 9965191 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 9965191 9965191 C T SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known missense c.1036 p.V346M 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 117 0 0 82 37 31.0924 AFF3 0 genome.wustl.edu 37 2 100170816 100170816 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 100170816 100170816 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known silent c.3591 p.Y1197 0.502 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 158 0 0 101 31 23.4848 SLC9A2 0 genome.wustl.edu 37 2 103324646 103324646 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 103324646 103324646 C T SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known missense c.2137 p.R713C 0.997 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 176 0 0 129 31 19.375 POU3F3 0 genome.wustl.edu 37 2 105472918 105472918 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 105472918 105472918 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.950 p.P317L 1.000 pfam_POU_specific,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 35 0 0 20 3 13.0435 ST6GAL2 0 genome.wustl.edu 37 2 107459935 107459935 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 107459935 107459935 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known nonsense c.499 p.Q167* 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 216 0 0 140 51 26.7016 SULT1C3 0 genome.wustl.edu 37 2 108875249 108875249 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 108875249 108875249 C T SNP SULT1C3 ENST00000329106 human ensembl 74_37 +1 known missense c.586 p.R196W 0.009 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 90 0 0 55 23 29.4872 GREB1 0 genome.wustl.edu 37 2 11727563 11727563 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 11727563 11727563 G A SNP GREB1 ENST00000263834 human ensembl 74_37 +1 known silent c.1215 p.S405 0.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 46 0 0 47 12 20.339 C1QL2 0 genome.wustl.edu 37 2 119915206 119915206 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 119915206 119915206 C T SNP C1QL2 ENST00000272520 human ensembl 74_37 -1 known missense c.640 p.G214S 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL2 HGNC ENSG00000144119 57 0 0 46 10 17.8571 BIN1 0 genome.wustl.edu 37 2 127828171 127828171 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 127828171 127828171 C A SNP BIN1 ENST00000316724 human ensembl 74_37 -1 known missense c.273 p.E91D 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 195 0 0 117 33 22 MGAT5 0 genome.wustl.edu 37 2 135099177 135099177 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 135099177 135099177 G A SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known missense c.824 p.G275E 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 65 0 0 49 11 18.3333 DARS 0 genome.wustl.edu 37 2 136670055 136670055 + Splice_Site SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 136670055 136670055 C T SNP DARS ENST00000264161 human ensembl 74_37 -1 known splice_site c.1230+1 e13+1 1.000 - - - no_errors DARS HGNC ENSG00000115866 97 0 0 66 28 29.7872 SPOPL 0 genome.wustl.edu 37 2 139316735 139316735 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 139316735 139316735 A G SNP SPOPL ENST00000280098 human ensembl 74_37 +1 known silent c.624 p.G208 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 148 0 0 102 48 32 BAZ2B 0 genome.wustl.edu 37 2 160206241 160206241 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 160206241 160206241 G A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.4841 p.P1614L 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 58 0 0 48 10 17.2414 FASTKD1 0 genome.wustl.edu 37 2 170394546 170394546 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 170394546 170394546 C T SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known missense c.2051 p.R684H 0.893 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 195 0 0 126 44 25.8824 HOXD10 0 genome.wustl.edu 37 2 176982219 176982219 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 176982219 176982219 G A SNP HOXD10 ENST00000249501 human ensembl 74_37 +1 known missense c.658 p.E220K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 70 0 0 46 9 16.3636 HOXD4 0 genome.wustl.edu 37 2 177016724 177016724 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 177016724 177016724 G A SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known silent c.363 p.P121 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 45 0 0 26 10 27.7778 TTN 0 genome.wustl.edu 37 2 179470216 179470216 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 179470216 179470216 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46102 p.R15368C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 75 0 0 70 14 16.6667 TTN 0 genome.wustl.edu 37 2 179482697 179482697 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 179482697 179482697 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39677 p.V13226A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 115 0 0 88 30 25.4237 NT5C1B 0 genome.wustl.edu 37 2 18766000 18766000 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 18766000 18766000 C T SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.683 p.R228Q 0.145 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 47 0 0 28 6 17.6471 GLS 0 genome.wustl.edu 37 2 191818296 191818296 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 191818296 191818296 G T SNP GLS ENST00000320717 human ensembl 74_37 +1 known missense c.1656 p.K552N 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 253 0 0 174 41 19.0698 STAT1 0 genome.wustl.edu 37 2 191848451 191848451 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 191848451 191848451 C T SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.1363 p.V455I 0.002 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 139 0 0 86 31 26.4957 GTF3C3 0 genome.wustl.edu 37 2 197657712 197657712 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 197657712 197657712 C T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.379 p.V127I 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 36 0 0 35 7 16.6667 HSPD1 0 genome.wustl.edu 37 2 198353798 198353798 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 198353798 198353798 T C SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known silent c.1143 p.T381 0.998 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 100 0 0 89 30 25.2101 NDUFB3 0 genome.wustl.edu 37 2 201943745 201943745 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 201943745 201943745 G A SNP NDUFB3 ENST00000237889 human ensembl 74_37 +1 known missense c.140 p.R47H 1.000 pfam_NDUFB3 pfam_NDUFB3 - no_errors NDUFB3 HGNC ENSG00000119013 43 0 0 44 12 21.4286 NOP58 0 genome.wustl.edu 37 2 203157521 203157521 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 203157521 203157521 C T SNP NOP58 ENST00000264279 human ensembl 74_37 +1 known nonsense c.802 p.R268* 1.000 pfam_Nop_dom pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 83 0 0 73 25 25.5102 FZD5 0 genome.wustl.edu 37 2 208631779 208631779 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 208631779 208631779 G A SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known missense c.1685 p.A562V 0.963 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 43 0 0 33 18 35.2941 FZD5 0 genome.wustl.edu 37 2 208633129 208633129 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 208633129 208633129 G T SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known missense c.335 p.A112D 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 40 0 0 20 7 25.9259 PTH2R 0 genome.wustl.edu 37 2 209307125 209307125 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 209307125 209307125 G A SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.448 p.V150I 0.001 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 168 0 0 120 39 24.5283 ABCA12 0 genome.wustl.edu 37 2 215884358 215884358 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 215884358 215884358 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.1450 p.A484T 0.008 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 68 0 0 37 7 15.9091 MREG 0 genome.wustl.edu 37 2 216811832 216811832 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 216811832 216811832 C T SNP MREG ENST00000263268 human ensembl 74_37 -1 known nonsense c.260 p.W87* 1.000 NULL NULL - no_errors MREG HGNC ENSG00000118242 24 0 0 12 3 20 GMPPA 0 genome.wustl.edu 37 2 220371039 220371039 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 220371039 220371039 G A SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known missense c.1057 p.V353M 1.000 NULL pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 130 0 0 83 32 27.8261 EPHA4 0 genome.wustl.edu 37 2 222429021 222429021 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 222429021 222429021 G A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known nonsense c.253 p.R85* 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 151 0 0 127 40 23.9521 NYAP2 0 genome.wustl.edu 37 2 226447216 226447216 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 226447216 226447216 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.1083 p.T361 0.012 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 26 0 0 26 7 21.2121 ECEL1 0 genome.wustl.edu 37 2 233346258 233346258 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 233346258 233346258 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known silent c.1947 p.C649 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 44 0 0 21 9 30 TRPM8 0 genome.wustl.edu 37 2 234875353 234875353 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 234875353 234875353 C T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.1979 p.A660V 0.997 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 36 0 0 17 6 26.087 COL6A3 0 genome.wustl.edu 37 2 238277427 238277427 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 238277427 238277427 G T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.4679 p.A1560D 0.051 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 162 0 0 120 27 18.3673 ILKAP 0 genome.wustl.edu 37 2 239079299 239079299 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 239079299 239079299 G A SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known missense c.1057 p.R353W 0.999 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors ILKAP HGNC ENSG00000132323 48 0 0 35 19 35.1852 KIF1A 0 genome.wustl.edu 37 2 241697895 241697895 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 241697895 241697895 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.2464 p.R822W 1.000 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 17 0 0 15 10 40 SNED1 0 genome.wustl.edu 37 2 242002305 242002305 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 242002305 242002305 C T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known silent c.2355 p.G785 0.004 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 19 0 0 12 3 20 KIF3C 0 genome.wustl.edu 37 2 26204561 26204561 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 26204561 26204561 C T SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.226 p.E76K 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 137 0 0 93 27 22.5 DPYSL5 0 genome.wustl.edu 37 2 27157486 27157486 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 27157486 27157486 G A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known silent c.831 p.T277 0.058 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 274 0 0 184 70 27.5591 MPV17 0 genome.wustl.edu 37 2 27535564 27535564 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 27535564 27535564 T C SNP MPV17 ENST00000233545 human ensembl 74_37 -1 known missense c.262 p.K88E 1.000 NULL pfam_Mpv17_PMP22 - no_errors MPV17 HGNC ENSG00000115204 70 0 0 49 16 24.6154 LOC100505624 0 genome.wustl.edu 37 2 27560090 27560090 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 27560090 27560090 G A SNP LOC100505624 ENST00000416453 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC109828.1 Clone_based_vega_gene ENSG00000234945 26 0 0 14 5 26.3158 GTF3C2 0 genome.wustl.edu 37 2 27565017 27565017 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 27565017 27565017 A G SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known missense c.653 p.V218A 0.050 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 68 0 0 51 18 26.087 ALK 0 genome.wustl.edu 37 2 29416153 29416153 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 29416153 29416153 T C SNP ALK ENST00000389048 human ensembl 74_37 -1 known silent c.4800 p.G1600 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 70 0 0 52 14 21.2121 HEATR5B 0 genome.wustl.edu 37 2 37297377 37297377 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 37297377 37297377 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.923 p.T308M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 161 0 0 140 41 22.6519 SLC8A1 0 genome.wustl.edu 37 2 40656208 40656208 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 40656208 40656208 G T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.1213 p.P405T 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 68 0 0 52 23 30.6667 MTA3 0 genome.wustl.edu 37 2 42935094 42935094 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 42935094 42935094 G A SNP MTA3 ENST00000405094 human ensembl 74_37 +1 known missense c.1202 p.R401K 1.000 pfam_Znf_GATA,smart_Znf_GATA pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA3 HGNC ENSG00000057935 97 0 0 61 22 26.506 ZFP36L2 0 genome.wustl.edu 37 2 43452232 43452232 + Silent SNP G G C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 43452232 43452232 G C SNP ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known silent c.711 p.G237 0.184 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 23 0 0 30 3 9.09091 FOXN2 0 genome.wustl.edu 37 2 48602243 48602243 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 48602243 48602243 C T SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known silent c.957 p.S319 0.621 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 74 0 0 37 17 31.4815 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808508 48808508 + Silent SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 48808508 48808508 A C SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known silent c.736 p.R246 0.006 NULL pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 78 0 0 75 22 22.6804 NRXN1 0 genome.wustl.edu 37 2 51254659 51254659 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 51254659 51254659 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.753 p.R251 0.796 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 32 0 0 35 10 22.2222 PSME4 0 genome.wustl.edu 37 2 54122183 54122183 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 54122183 54122183 C T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known silent c.3873 p.E1291 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 124 0 0 101 23 18.5484 BCL11A 0 genome.wustl.edu 37 2 60688530 60688530 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 60688530 60688530 G A SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1517 p.T506M 0.991 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 23 0 0 12 3 20 CEP68 0 genome.wustl.edu 37 2 65296839 65296839 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 65296839 65296839 C T SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known silent c.261 p.N87 0.001 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 83 0 0 44 20 31.25 VAX2 0 genome.wustl.edu 37 2 71148374 71148374 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 71148374 71148374 C T SNP VAX2 ENST00000234392 human ensembl 74_37 +1 known missense c.394 p.R132C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 72 0 0 48 17 26.1538 ATP6V1B1 0 genome.wustl.edu 37 2 71191897 71191897 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 71191897 71191897 A C SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known missense c.1280 p.Q427P 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 53 0 0 38 16 29.6296 PRADC1 0 genome.wustl.edu 37 2 73455925 73455925 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 73455925 73455925 G A SNP PRADC1 ENST00000258083 human ensembl 74_37 -1 known silent c.444 p.D148 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain - no_errors PRADC1 HGNC ENSG00000135617 33 0 0 17 14 45.1613 RTKN 0 genome.wustl.edu 37 2 74653396 74653396 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 74653396 74653396 G A SNP RTKN ENST00000272430 human ensembl 74_37 -1 known missense c.1666 p.R556C 0.001 NULL pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 254 0 0 209 59 22.0149 TACR1 0 genome.wustl.edu 37 2 75278554 75278554 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 75278554 75278554 G A SNP TACR1 ENST00000305249 human ensembl 74_37 -1 known silent c.756 p.V252 0.371 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 73 0 0 41 17 29.3103 RMND5A 0 genome.wustl.edu 37 2 86993070 86993070 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 86993070 86993070 G A SNP RMND5A ENST00000283632 human ensembl 74_37 +1 known nonsense c.777 p.W259* 1.000 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5A HGNC ENSG00000153561 116 0 0 94 5 5.05051 VWA3B 0 genome.wustl.edu 37 2 98744813 98744813 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 98744813 98744813 G A SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.814 p.A272T 0.994 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 100 0 0 67 27 28.7234 CD93 0 genome.wustl.edu 37 20 23066072 23066072 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 23066072 23066072 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.758 p.S253L 0.001 pirsf_CD93/CD141 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 182 1 0.546448 114 57 33.3333 GZF1 0 genome.wustl.edu 37 20 23350249 23350249 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 23350249 23350249 C T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.1656 p.C552 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 224 0 0 150 72 32.4324 CST5 0 genome.wustl.edu 37 20 23858244 23858244 + Silent SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 23858244 23858244 C A SNP CST5 ENST00000304710 human ensembl 74_37 -1 known silent c.243 p.G81 0.007 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST5 HGNC ENSG00000170367 78 0 0 70 15 17.6471 SYNDIG1 0 genome.wustl.edu 37 20 24524045 24524045 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 24524045 24524045 C T SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known silent c.312 p.D104 0.000 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 138 0 0 78 47 37.6 ACSS1 0 genome.wustl.edu 37 20 25011536 25011536 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 25011536 25011536 G A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.490 p.R164C 0.916 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 48 0 0 52 10 16.129 ZNF341 0 genome.wustl.edu 37 20 32354681 32354681 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 32354681 32354681 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.1247 p.A416V 0.015 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 231 1 0.431034 247 53 17.6667 TTI1 0 genome.wustl.edu 37 20 36641193 36641193 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 36641193 36641193 A G SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known silent c.1026 p.D342 0.996 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 148 0 0 143 25 14.881 DHX35 0 genome.wustl.edu 37 20 37634810 37634810 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 37634810 37634810 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.1033 p.A345T 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 484 0 0 517 110 17.5439 ZHX3 0 genome.wustl.edu 37 20 39831389 39831389 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 39831389 39831389 C T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.2168 p.S723N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 89 0 0 98 20 16.9492 LPIN3 0 genome.wustl.edu 37 20 39980542 39980542 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 39980542 39980542 C T SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.1184 p.A395V 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 95 0 0 80 21 20.7921 EMILIN3 0 genome.wustl.edu 37 20 39989982 39989982 + Missense_Mutation SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 39989982 39989982 C G SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.2227 p.A743P 0.125 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 52 0 0 45 6 11.7647 RBCK1 0 genome.wustl.edu 37 20 408048 408048 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 408048 408048 C A SNP RBCK1 ENST00000356286 human ensembl 74_37 +1 known missense c.1121 p.P374Q 0.989 pfam_Znf_C6HC pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 78 0 0 71 14 16.4706 JPH2 0 genome.wustl.edu 37 20 42789012 42789012 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 42789012 42789012 G T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.415 p.H139N 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 31 0 0 18 4 18.1818 GDAP1L1 0 genome.wustl.edu 37 20 42907672 42907672 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 42907672 42907672 G A SNP GDAP1L1 ENST00000342560 human ensembl 74_37 +1 known missense c.836 p.R279H 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 147 0 0 124 31 20 RIMS4 0 genome.wustl.edu 37 20 43386791 43386791 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 43386791 43386791 C T SNP RIMS4 ENST00000541604 human ensembl 74_37 -1 known missense c.274 p.A92T 0.980 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS4 HGNC ENSG00000101098 63 0 0 58 12 17.1429 SEMG2 0 genome.wustl.edu 37 20 43850598 43850598 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 43850598 43850598 T A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.325 p.Y109N 0.002 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 96 0 0 82 40 32.7869 SDC4 0 genome.wustl.edu 37 20 43964515 43964515 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 43964515 43964515 G A SNP SDC4 ENST00000372733 human ensembl 74_37 -1 known nonsense c.106 p.R36* 0.521 NULL pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC4 HGNC ENSG00000124145 61 0 0 53 12 18.4615 PCIF1 0 genome.wustl.edu 37 20 44569201 44569201 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 44569201 44569201 C T SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known missense c.337 p.R113W 1.000 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 23 0 0 15 9 37.5 SPATA2 0 genome.wustl.edu 37 20 48522841 48522841 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 48522841 48522841 C T SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.878 p.R293H 1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 117 0 0 126 23 15.4362 PCK1 0 genome.wustl.edu 37 20 56137185 56137185 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 56137185 56137185 G A SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known missense c.283 p.V95I 0.819 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 79 0 0 47 11 18.9655 SLMO2 0 genome.wustl.edu 37 20 57610086 57610086 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 57610086 57610086 T C SNP SLMO2 ENST00000355937 human ensembl 74_37 -1 known silent c.561 p.A187 0.757 NULL pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors SLMO2 HGNC ENSG00000101166 33 0 0 48 4 7.69231 EDN3 0 genome.wustl.edu 37 20 57876698 57876698 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 57876698 57876698 C T SNP EDN3 ENST00000337938 human ensembl 74_37 +1 known missense c.286 p.R96C 0.993 pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 141 0 0 108 70 39.3258 LAMA5 0 genome.wustl.edu 37 20 60887584 60887584 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 60887584 60887584 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known nonsense c.9232 p.R3078* 0.038 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 28 0 0 22 20 47.619 YTHDF1 0 genome.wustl.edu 37 20 61833646 61833646 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 61833646 61833646 A G SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.1646 p.V549A 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 140 1 0.70922 139 28 16.7665 HELZ2 0 genome.wustl.edu 37 20 62197486 62197486 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 62197486 62197486 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.2689 p.V897M 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 12 0 0 12 4 25 BACH1 0 genome.wustl.edu 37 21 30715090 30715090 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 30715090 30715090 G A SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known missense c.2147 p.R716H 0.110 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 BACH1 HGNC ENSG00000156273 52 0 0 39 13 25 TIAM1 0 genome.wustl.edu 37 21 32559328 32559328 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 32559328 32559328 G T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.2651 p.A884D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 196 0 0 180 49 21.3974 SCAF4 0 genome.wustl.edu 37 21 33103990 33103990 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 33103990 33103990 C T SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.16 p.A6T 1.000 superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 76 0 0 70 11 13.5802 DOPEY2 0 genome.wustl.edu 37 21 37617999 37617999 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 37617999 37617999 C T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.3721 p.L1241F 0.929 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 57 0 0 37 17 31.4815 DSCAM 0 genome.wustl.edu 37 21 42080531 42080531 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 42080531 42080531 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.210 p.P70 1.000 smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 121 0 0 93 21 18.4211 PRDM15 0 genome.wustl.edu 37 21 43242266 43242266 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 43242266 43242266 C T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.2987 p.R996Q 0.998 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 121 0 0 75 16 17.5824 ITGB2 0 genome.wustl.edu 37 21 46321619 46321619 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 46321619 46321619 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.529 p.L177 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 77 0 0 49 16 24.6154 PCNT 0 genome.wustl.edu 37 21 47851682 47851682 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 47851682 47851682 C T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.8304 p.T2768 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 34 0 0 24 6 20 ARVCF 0 genome.wustl.edu 37 22 19967344 19967344 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 19967344 19967344 G A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1318 p.R440W 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 26 0 0 10 5 33.3333 SPECC1L 0 genome.wustl.edu 37 22 24717327 24717327 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 24717327 24717327 C T SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.379 p.R127C 0.995 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 184 0 0 108 44 28.9474 LRP5L 0 genome.wustl.edu 37 22 25747816 25747816 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 25747816 25747816 G A SNP LRP5L ENST00000402785 human ensembl 74_37 -1 known missense c.709 p.R237C 0.991 NULL pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 99 0 0 82 13 13.6842 RFPL1S 0 genome.wustl.edu 37 22 29833658 29833658 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 29833658 29833658 C T SNP RFPL1S ENST00000461286 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RFPL1S HGNC ENSG00000225465 20 0 0 20 8 28.5714 SFI1 0 genome.wustl.edu 37 22 32011260 32011260 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 32011260 32011260 G T SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.3295 p.A1099S 0.000 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 15 0 0 22 6 21.4286 RASD2 0 genome.wustl.edu 37 22 35947942 35947942 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 35947942 35947942 G A SNP RASD2 ENST00000216127 human ensembl 74_37 +1 known missense c.664 p.V222I 0.003 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD2 HGNC ENSG00000100302 107 0 0 53 20 27.3973 GGA1 0 genome.wustl.edu 37 22 38027048 38027048 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 38027048 38027048 C T SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known silent c.1470 p.P490 0.023 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 142 1 0.699301 107 33 23.5714 TMEM184B 0 genome.wustl.edu 37 22 38621523 38621523 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 38621523 38621523 A G SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known missense c.695 p.F232S 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 92 0 0 41 20 32.7869 KCNJ4 0 genome.wustl.edu 37 22 38823526 38823526 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 38823526 38823526 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known nonsense c.612 p.W204* 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 60 0 0 61 15 19.7368 APOBEC3G 0 genome.wustl.edu 37 22 39477208 39477208 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 39477208 39477208 A G SNP APOBEC3G ENST00000407997 human ensembl 74_37 +1 known missense c.442 p.T148A 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 112 0 0 72 24 25 ADSL 0 genome.wustl.edu 37 22 40762510 40762510 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 40762510 40762510 C T SNP ADSL ENST00000454266 human ensembl 74_37 +1 known missense c.1481 p.A494V 1.000 NULL pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 79 0 0 47 11 18.9655 ACO2 0 genome.wustl.edu 37 22 41904043 41904043 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 41904043 41904043 G A SNP ACO2 ENST00000216254 human ensembl 74_37 +1 known missense c.422 p.R141H 0.854 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 74 0 0 72 16 18.1818 TTLL1 0 genome.wustl.edu 37 22 43460205 43460205 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 43460205 43460205 C T SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known missense c.629 p.R210H 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 82 0 0 91 9 9 SMC1B 0 genome.wustl.edu 37 22 45802421 45802421 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 45802421 45802421 C T SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.535 p.E179K 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 58 0 0 41 13 24.0741 ATXN10 0 genome.wustl.edu 37 22 46134638 46134638 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 46134638 46134638 G A SNP ATXN10 ENST00000252934 human ensembl 74_37 +1 known missense c.922 p.D308N 0.286 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 79 0 0 73 18 19.7802 PKDREJ 0 genome.wustl.edu 37 22 46652994 46652994 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 46652994 46652994 G A SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.6226 p.R2076C 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 52 0 0 63 16 20.2532 PKDREJ 0 genome.wustl.edu 37 22 46658610 46658610 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 46658610 46658610 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.610 p.V204I 0.000 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 51 0 0 27 3 10 ZBED4 0 genome.wustl.edu 37 22 50277799 50277799 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 50277799 50277799 C T SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known silent c.489 p.R163 0.426 pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 83 0 0 47 16 25.3968 IL17REL 0 genome.wustl.edu 37 22 50439194 50439194 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 50439194 50439194 C T SNP IL17REL ENST00000341280 human ensembl 74_37 -1 known missense c.208 p.G70R 0.000 NULL NULL - no_errors IL17REL HGNC ENSG00000188263 33 0 0 27 3 10 TTLL8 0 genome.wustl.edu 37 22 50470379 50470379 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 50470379 50470379 C T SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known silent c.1443 p.P481 0.773 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 36 0 0 31 14 31.1111 PANX2 0 genome.wustl.edu 37 22 50616018 50616018 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 50616018 50616018 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.877 p.V293M 1.000 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 74 0 0 63 23 26.7442 PLXNB2 0 genome.wustl.edu 37 22 50728320 50728320 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 50728320 50728320 A C SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.694 p.F232V 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 PLXNB2 HGNC ENSG00000196576 71 0 0 35 14 28.5714 ATP2B2 0 genome.wustl.edu 37 3 10370624 10370624 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 10370624 10370624 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.3606 p.P1202 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 94 0 0 74 24 24.4898 SLC6A1 0 genome.wustl.edu 37 3 11070970 11070970 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 11070970 11070970 C T SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known missense c.1255 p.R419C 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 29 0 0 33 6 15.3846 PLCXD2 0 genome.wustl.edu 37 3 111432785 111432785 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 111432785 111432785 C T SNP PLCXD2 ENST00000477665 human ensembl 74_37 +1 known missense c.676 p.P226S 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD2 HGNC ENSG00000240891 97 0 0 72 6 7.69231 BOC 0 genome.wustl.edu 37 3 112998694 112998694 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 112998694 112998694 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.2047 p.R683W 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 BOC HGNC ENSG00000144857 144 0 0 121 30 19.8675 POPDC2 0 genome.wustl.edu 37 3 119379220 119379220 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 119379220 119379220 C T SNP POPDC2 ENST00000341124 human ensembl 74_37 -1 known silent c.51 p.A17 0.899 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 45 0 0 45 13 22.4138 NR1I2 0 genome.wustl.edu 37 3 119526207 119526207 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 119526207 119526207 G A SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.227 p.G76D 0.567 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 112 0 0 76 23 23.2323 UMPS 0 genome.wustl.edu 37 3 124462820 124462820 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 124462820 124462820 C T SNP UMPS ENST00000232607 human ensembl 74_37 +1 known silent c.1332 p.S444 1.000 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 82 0 0 51 26 33.7662 PLXNA1 0 genome.wustl.edu 37 3 126735442 126735442 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 126735442 126735442 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.3097 p.A1033T 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA1 HGNC ENSG00000114554 106 0 0 69 29 29.5918 IFT122 0 genome.wustl.edu 37 3 129202444 129202444 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 129202444 129202444 G A SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known silent c.1923 p.L641 0.993 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 46 0 0 29 8 21.6216 COL6A6 0 genome.wustl.edu 37 3 130285684 130285684 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 130285684 130285684 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.1421 p.R474Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 159 0 0 113 31 21.5278 COL6A6 0 genome.wustl.edu 37 3 130368359 130368359 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 130368359 130368359 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.5686 p.V1896M 0.489 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 9 0 0 11 3 21.4286 EPHB1 0 genome.wustl.edu 37 3 134967327 134967327 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 134967327 134967327 A C SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2666 p.K889T 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_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 EPHB1 HGNC ENSG00000154928 21 0 0 14 4 22.2222 FBLN2 0 genome.wustl.edu 37 3 13613154 13613154 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 13613154 13613154 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known silent c.1299 p.S433 0.000 superfamily_Anaphylatoxin_comp_syst pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 19 0 0 8 7 46.6667 PRR23A 0 genome.wustl.edu 37 3 138724463 138724463 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 138724463 138724463 G A SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known silent c.648 p.F216 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 45 0 0 16 9 36 PRR23B 0 genome.wustl.edu 37 3 138739117 138739117 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 138739117 138739117 G A SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known silent c.387 p.G129 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 100 0 0 61 22 26.506 PAQR9 0 genome.wustl.edu 37 3 142681852 142681852 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 142681852 142681852 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known silent c.327 p.G109 0.710 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 47 0 0 28 16 36.3636 PBX2P1 0 genome.wustl.edu 37 3 142895302 142895302 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 142895302 142895302 C T SNP PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX2P1 HGNC ENSG00000244171 54 0 0 31 18 36.7347 ZIC1 0 genome.wustl.edu 37 3 147130449 147130449 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 147130449 147130449 C T SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.1127 p.S376L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 93 0 0 60 21 25.9259 FGD5 0 genome.wustl.edu 37 3 14861613 14861613 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 14861613 14861613 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known silent c.1035 p.S345 0.004 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 100 0 0 89 28 23.9316 GYG1 0 genome.wustl.edu 37 3 148741948 148741948 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 148741948 148741948 C T SNP GYG1 ENST00000483267 human ensembl 74_37 +1 putative missense c.578 p.T193I 0.000 NULL pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 69 0 0 65 4 5.7971 SHOX2 0 genome.wustl.edu 37 3 157820483 157820483 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 157820483 157820483 G A SNP SHOX2 ENST00000389589 human ensembl 74_37 -1 known missense c.611 p.S204L 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX2 HGNC ENSG00000168779 88 0 0 70 24 25.5319 BCHE 0 genome.wustl.edu 37 3 165547357 165547357 + Nonsense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 165547357 165547357 C A SNP BCHE ENST00000264381 human ensembl 74_37 -1 known nonsense c.1465 p.E489* 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 94 0 0 56 23 29.1139 BCHE 0 genome.wustl.edu 37 3 165547582 165547582 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 165547582 165547582 G A SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1240 p.R414C 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 97 0 0 59 28 32.1839 SPATA16 0 genome.wustl.edu 37 3 172834946 172834946 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 172834946 172834946 G A SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known silent c.576 p.Y192 0.161 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 163 0 0 132 31 19.0184 PIK3CA 0 genome.wustl.edu 37 3 178916936 178916936 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 178916936 178916936 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.323 p.R108H 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 107 0 0 57 17 22.973 DCUN1D1 0 genome.wustl.edu 37 3 182662919 182662919 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 182662919 182662919 C T SNP DCUN1D1 ENST00000292782 human ensembl 74_37 -1 known missense c.743 p.R248H 1.000 pfam_PONY_dom pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D1 HGNC ENSG00000043093 63 0 0 40 19 32.2034 LAMP3 0 genome.wustl.edu 37 3 182872122 182872122 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 182872122 182872122 T C SNP LAMP3 ENST00000265598 human ensembl 74_37 -1 known missense c.107 p.Y36C 0.000 NULL pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP3 HGNC ENSG00000078081 118 0 0 86 29 25.2174 MUC4 0 genome.wustl.edu 37 3 195481223 195481223 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 195481223 195481223 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.15189 p.D5063 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 53 0 0 39 15 27.7778 MFI2 0 genome.wustl.edu 37 3 196743090 196743090 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 196743090 196743090 C T SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.1051 p.A351T 0.999 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 47 0 0 22 17 43.5897 BDH1 0 genome.wustl.edu 37 3 197239128 197239128 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 197239128 197239128 A G SNP BDH1 ENST00000358186 human ensembl 74_37 -1 known missense c.670 p.Y224H 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 60 0 0 54 15 21.7391 CLASP2 0 genome.wustl.edu 37 3 33626368 33626368 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 33626368 33626368 C T SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.2113 p.A705T 0.053 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 70 0 0 63 26 29.2135 TRANK1 0 genome.wustl.edu 37 3 36874817 36874817 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 36874817 36874817 C A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.6125 p.G2042V 0.005 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 68 0 0 34 10 22.7273 PLCD1 0 genome.wustl.edu 37 3 38058168 38058168 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 38058168 38058168 G A SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known missense c.305 p.T102M 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 13 0 0 5 2 28.5714 WDR48 0 genome.wustl.edu 37 3 39136354 39136354 + RNA SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 39136354 39136354 A G SNP WDR48 ENST00000466405 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WDR48 HGNC ENSG00000114742 28 0 0 22 2 8.33333 CCDC13 0 genome.wustl.edu 37 3 42751226 42751226 + Silent SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 42751226 42751226 G T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known silent c.1938 p.A646 0.011 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 183 0 0 129 31 19.375 ZNF197 0 genome.wustl.edu 37 3 44684230 44684230 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 44684230 44684230 A C SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known missense c.1608 p.K536N 0.944 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 140 0 0 98 30 23.4375 ITPR1 0 genome.wustl.edu 37 3 4669509 4669509 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 4669509 4669509 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.226 p.A76T 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 170 0 0 116 28 19.4444 PRSS50 0 genome.wustl.edu 37 3 46754425 46754425 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 46754425 46754425 C T SNP PRSS50 ENST00000315170 human ensembl 74_37 -1 known missense c.887 p.C296Y 0.848 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 PRSS50 HGNC ENSG00000206549 194 0 0 144 43 22.9947 PTPN23 0 genome.wustl.edu 37 3 47452631 47452631 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 47452631 47452631 G A SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.3343 p.A1115T 0.002 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 16 0 0 9 4 30.7692 ITPR1 0 genome.wustl.edu 37 3 4810245 4810245 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 4810245 4810245 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.5731 p.E1911K 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,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 55 0 0 39 10 20.4082 BSN 0 genome.wustl.edu 37 3 49688124 49688124 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 49688124 49688124 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.1598 p.P533L 0.202 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 171 0 0 129 55 29.8913 IP6K1 0 genome.wustl.edu 37 3 49764604 49764604 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 49764604 49764604 A G SNP IP6K1 ENST00000321599 human ensembl 74_37 -1 known missense c.1277 p.L426P 1.000 pfam_IPK pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 93 0 0 56 20 26.3158 FAM212A 0 genome.wustl.edu 37 3 49842206 49842206 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 49842206 49842206 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.650 p.R217H 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 168 0 0 122 46 27.381 TUSC2 0 genome.wustl.edu 37 3 50363585 50363585 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 50363585 50363585 G A SNP TUSC2 ENST00000232496 human ensembl 74_37 -1 known silent c.300 p.H100 1.000 NULL NULL - no_errors TUSC2 HGNC ENSG00000114383 18 0 0 4 2 33.3333 RAD54L2 0 genome.wustl.edu 37 3 51675812 51675812 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 51675812 51675812 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.2279 p.R760Q 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 22 0 0 11 4 26.6667 TLR9 0 genome.wustl.edu 37 3 52255795 52255795 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 52255795 52255795 C T SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.2609 p.C870Y 0.995 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 85 0 0 67 27 28.7234 STAB1 0 genome.wustl.edu 37 3 52552802 52552802 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 52552802 52552802 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.4951 p.R1651W 0.984 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 45 0 0 31 15 32.6087 STAB1 0 genome.wustl.edu 37 3 52557118 52557118 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 52557118 52557118 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6988 p.A2330T 0.983 superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 146 0 0 111 46 29.2994 IL17RD 0 genome.wustl.edu 37 3 57135251 57135251 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 57135251 57135251 C T SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known missense c.1120 p.V374I 0.973 pfam_SEFIR,superfamily_TIR_dom pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 52 0 0 24 11 31.4286 SETD5 0 genome.wustl.edu 37 3 9488801 9488801 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 9488801 9488801 G A SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.1592 p.R531Q 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 77 0 0 50 19 27.5362 CRYBG3 0 genome.wustl.edu 37 3 97595964 97595964 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 97595964 97595964 G A SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.82 p.E28K 0.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 46 0 0 44 18 29.0323 BRPF1 0 genome.wustl.edu 37 3 9780731 9780731 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 9780731 9780731 C T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.648 p.D216 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 69 0 0 33 11 25 BRPF1 0 genome.wustl.edu 37 3 9784959 9784959 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 9784959 9784959 C T SNP BRPF1 ENST00000469066 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors BRPF1 HGNC ENSG00000156983 38 0 0 11 6 35.2941 TRMT10A 0 genome.wustl.edu 37 4 100479244 100479244 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 100479244 100479244 T C SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.310 p.I104V 0.629 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 36 0 0 26 8 23.5294 DNAJB14 0 genome.wustl.edu 37 4 100824939 100824939 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 100824939 100824939 A G SNP DNAJB14 ENST00000442697 human ensembl 74_37 -1 known missense c.959 p.V320A 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB14 HGNC ENSG00000164031 61 0 0 41 10 19.6078 DKK2 0 genome.wustl.edu 37 4 107846975 107846975 + Silent SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 107846975 107846975 G T SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel silent c.354 p.P118 0.876 pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 203 0 0 126 44 25.8824 ALPK1 0 genome.wustl.edu 37 4 113350368 113350368 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 113350368 113350368 G A SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.859 p.A287T 0.964 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 239 0 0 168 54 24.3243 PDE5A 0 genome.wustl.edu 37 4 120527968 120527968 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 120527968 120527968 G A SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known silent c.637 p.L213 0.880 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 165 0 0 116 43 27.044 SPATA5 0 genome.wustl.edu 37 4 123949476 123949476 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 123949476 123949476 C T SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.2005 p.P669S 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 117 0 0 85 34 28.5714 PCDH10 0 genome.wustl.edu 37 4 134073642 134073642 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 134073642 134073642 A G SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2347 p.S783G 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 42 0 0 29 11 27.5 PCDH10 0 genome.wustl.edu 37 4 134084249 134084249 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 134084249 134084249 A T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2915 p.N972I 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 111 0 0 74 30 28.8462 BOD1L1 0 genome.wustl.edu 37 4 13600885 13600885 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 13600885 13600885 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.7639 p.A2547T 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 34 0 0 26 3 10.3448 PCDH18 0 genome.wustl.edu 37 4 138452481 138452481 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 138452481 138452481 T C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.762 p.Q254 0.276 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 108 1 0.917431 64 30 31.9149 NAA15 0 genome.wustl.edu 37 4 140264042 140264042 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 140264042 140264042 T C SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known silent c.465 p.A155 1.000 pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 97 0 0 79 20 20.202 ZNF827 0 genome.wustl.edu 37 4 146770683 146770683 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 146770683 146770683 T G SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.2012 p.K671T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 137 0 0 91 38 29.4574 RPS3A 0 genome.wustl.edu 37 4 152024210 152024210 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 152024210 152024210 T C SNP RPS3A ENST00000274065 human ensembl 74_37 +1 known missense c.542 p.L181S 1.000 pfam_Ribosomal_S3Ae pfam_Ribosomal_S3Ae - no_errors RPS3A HGNC ENSG00000145425 33 0 0 23 6 20.6897 SFRP2 0 genome.wustl.edu 37 4 154702746 154702746 + Nonsense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 154702746 154702746 C A SNP SFRP2 ENST00000274063 human ensembl 74_37 -1 known nonsense c.745 p.E249* 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 85 0 0 57 23 28.75 DCHS2 0 genome.wustl.edu 37 4 155163835 155163835 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 155163835 155163835 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.5666 p.A1889V 0.848 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 99 0 0 101 28 21.7054 FNIP2 0 genome.wustl.edu 37 4 159789592 159789592 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 159789592 159789592 C A SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.1873 p.P625T 0.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 74 0 0 49 13 20.9677 VEGFC 0 genome.wustl.edu 37 4 177713407 177713407 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 177713407 177713407 G A SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.59 p.P20L 1.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 18 0 0 17 4 19.0476 TRAPPC11 0 genome.wustl.edu 37 4 184627978 184627978 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 184627978 184627978 G A SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known missense c.3074 p.R1025H 1.000 pfam_DUF1683_C pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 56 0 0 53 15 22.0588 MLF1IP 0 genome.wustl.edu 37 4 185631317 185631317 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 185631317 185631317 G A SNP MLF1IP ENST00000281453 human ensembl 74_37 -1 known missense c.706 p.H236Y 0.000 NULL NULL - no_errors MLF1IP HGNC ENSG00000151725 48 0 0 37 15 28.8462 F11 0 genome.wustl.edu 37 4 187206920 187206920 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 187206920 187206920 G T SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.1433 p.G478V 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 142 1 0.699301 93 19 16.9643 FAT1 0 genome.wustl.edu 37 4 187517817 187517817 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 187517817 187517817 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.12877 p.H4293Y 1.000 NULL 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 42 0 0 39 15 27.7778 FAT1 0 genome.wustl.edu 37 4 187584590 187584590 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 187584590 187584590 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.3443 p.I1148T 0.997 pfam_Cadherin,superfamily_Cadherin-like,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 101 0 0 90 32 26.2295 FAT1 0 genome.wustl.edu 37 4 187628366 187628366 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 187628366 187628366 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.2616 p.S872 0.002 pfam_Cadherin,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 59 0 0 49 24 32.8767 ZNF876P 0 genome.wustl.edu 37 4 206480 206480 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 206480 206480 G A SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF876P HGNC ENSG00000198155 17 0 0 15 4 21.0526 WDR19 0 genome.wustl.edu 37 4 39188158 39188158 + Splice_Site SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 39188158 39188158 G T SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known splice_site c.99-1 e3-1 1.000 - - - no_errors WDR19 HGNC ENSG00000157796 13 0 0 15 7 31.8182 ABCA11P 0 genome.wustl.edu 37 4 420357 420357 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 420357 420357 C T SNP ABCA11P ENST00000451020 human ensembl 74_37 -1 known rna NULL NULL 0.313 - - - no_errors ABCA11P HGNC ENSG00000251595 66 0 0 46 18 28.125 CORIN 0 genome.wustl.edu 37 4 47788851 47788851 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 47788851 47788851 A G SNP CORIN ENST00000273857 human ensembl 74_37 -1 known silent c.300 p.N100 0.000 pirsf_Peptidase_S1A_corin pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 49 0 0 33 17 34 EVC2 0 genome.wustl.edu 37 4 5624401 5624401 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 5624401 5624401 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.2364 p.A788 0.000 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 42 0 0 45 15 25 EVC 0 genome.wustl.edu 37 4 5733348 5733348 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 5733348 5733348 G T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.581 p.R194L 0.003 NULL NULL - no_errors EVC HGNC ENSG00000072840 75 0 0 45 18 28.5714 WFS1 0 genome.wustl.edu 37 4 6303575 6303575 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 6303575 6303575 C T SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.2053 p.R685C 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 89 0 0 50 22 30.5556 EPHA5 0 genome.wustl.edu 37 4 66189849 66189849 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 66189849 66189849 C T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.3097 p.G1033R 0.998 superfamily_SAM/pointed,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 71 0 0 63 8 11.2676 TMPRSS11D 0 genome.wustl.edu 37 4 68688175 68688175 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 68688175 68688175 C T SNP TMPRSS11D ENST00000283916 human ensembl 74_37 -1 known silent c.1137 p.R379 0.685 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11D HGNC ENSG00000153802 104 0 0 101 23 18.5484 CCDC96 0 genome.wustl.edu 37 4 7044597 7044597 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 7044597 7044597 C T SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known silent c.69 p.A23 0.001 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 15 0 0 13 3 18.75 SMR3A 0 genome.wustl.edu 37 4 71232500 71232500 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 71232500 71232500 C A SNP SMR3A ENST00000226460 human ensembl 74_37 +1 known missense c.194 p.P65Q 0.000 NULL NULL - no_errors SMR3A HGNC ENSG00000109208 185 0 0 100 24 19.3548 SORCS2 0 genome.wustl.edu 37 4 7728548 7728548 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 7728548 7728548 G A SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known silent c.2787 p.S929 0.001 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 144 0 0 103 34 24.8175 GK2 0 genome.wustl.edu 37 4 80328918 80328918 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 80328918 80328918 C T SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.437 p.S146N 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 151 0 0 94 38 28.7879 GAK 0 genome.wustl.edu 37 4 860170 860170 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 860170 860170 C T SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.3025 p.A1009T 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 74 0 0 59 15 20.2703 FAM13A 0 genome.wustl.edu 37 4 89859380 89859380 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 89859380 89859380 C T SNP FAM13A ENST00000512339 human ensembl 74_37 -1 known missense c.440 p.G147D 0.984 pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 52 0 0 40 11 21.5686 UNC5C 0 genome.wustl.edu 37 4 96140425 96140425 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 96140425 96140425 G A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1340 p.A447V 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 285 0 0 193 71 26.8939 APC 0 genome.wustl.edu 37 5 112173858 112173858 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 112173858 112173858 G A SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.2567 p.R856H 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 50 0 0 46 16 25.8065 KCNN2 0 genome.wustl.edu 37 5 113831808 113831808 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 113831808 113831808 C T SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.1669 p.R557W 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 156 0 0 100 16 13.7931 SLC6A19 0 genome.wustl.edu 37 5 1216779 1216779 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 1216779 1216779 C T SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.994 p.R332C 0.986 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_orphan pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 82 0 0 44 14 24.1379 ZNF608 0 genome.wustl.edu 37 5 123982598 123982598 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 123982598 123982598 G A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.3479 p.P1160L 0.998 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 136 0 0 111 37 25 SLC6A18 0 genome.wustl.edu 37 5 1246084 1246084 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 1246084 1246084 G A SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known missense c.1778 p.R593Q 0.000 pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 27 0 0 18 8 30.7692 MEGF10 0 genome.wustl.edu 37 5 126769169 126769169 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 126769169 126769169 C T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.1808 p.A603V 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 108 0 0 60 29 32.5843 CHSY3 0 genome.wustl.edu 37 5 129243833 129243833 + Missense_Mutation SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 129243833 129243833 C G SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.866 p.T289S 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 66 0 0 40 18 31.0345 H2AFY 0 genome.wustl.edu 37 5 134686547 134686547 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 134686547 134686547 C T SNP H2AFY ENST00000312469 human ensembl 74_37 -1 known silent c.645 p.P215 1.000 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY HGNC ENSG00000113648 64 0 0 27 6 18.1818 LRRTM2 0 genome.wustl.edu 37 5 138210079 138210079 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 138210079 138210079 G A SNP LRRTM2 ENST00000274711 human ensembl 74_37 -1 known silent c.171 p.N57 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 45 0 0 31 11 26.1905 CTNNA1 0 genome.wustl.edu 37 5 138266343 138266343 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 138266343 138266343 G A SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.2192 p.R731Q 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 142 1 0.699301 100 43 30.0699 SLC23A1 0 genome.wustl.edu 37 5 138715404 138715404 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 138715404 138715404 G A SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known silent c.900 p.I300 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 61 0 0 49 20 28.9855 PSD2 0 genome.wustl.edu 37 5 139189281 139189281 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 139189281 139189281 G T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.256 p.D86Y 0.425 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 128 1 0.775194 110 47 29.9363 TMCO6 0 genome.wustl.edu 37 5 140021628 140021628 + Nonsense_Mutation SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140021628 140021628 C G SNP TMCO6 ENST00000252100 human ensembl 74_37 +1 known nonsense c.488 p.S163* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 152 0 0 110 30 21.4286 IK 0 genome.wustl.edu 37 5 140039781 140039781 + Splice_Site SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140039781 140039781 G A SNP IK ENST00000417647 human ensembl 74_37 +1 known splice_site c.1355+1 e15+1 1.000 - - - no_errors IK HGNC ENSG00000113141 31 0 0 23 8 25.8065 DND1 0 genome.wustl.edu 37 5 140052378 140052378 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140052378 140052378 C T SNP DND1 ENST00000542735 human ensembl 74_37 -1 known missense c.256 p.E86K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 20 0 0 17 2 10.5263 PCDHA3 0 genome.wustl.edu 37 5 140182211 140182211 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140182211 140182211 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1429 p.V477M 0.448 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 225 1 0.442478 133 37 21.7647 PCDHA8 0 genome.wustl.edu 37 5 140221632 140221632 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140221632 140221632 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.726 p.F242 0.008 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 67 0 0 50 10 16.6667 PCDHA10 0 genome.wustl.edu 37 5 140237471 140237471 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140237471 140237471 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1838 p.A613V 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 29 0 0 14 11 44 PCDHA12 0 genome.wustl.edu 37 5 140257310 140257310 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140257310 140257310 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.2253 p.S751 0.065 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 42 0 0 34 12 26.087 PCDHB14 0 genome.wustl.edu 37 5 140604991 140604991 + Missense_Mutation SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140604991 140604991 C G SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1914 p.H638Q 0.011 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 78 0 0 66 10 13.1579 PCDHGB2 0 genome.wustl.edu 37 5 140740030 140740030 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140740030 140740030 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.328 p.A110T 0.984 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 109 0 0 76 27 26.2136 PCDHGA5 0 genome.wustl.edu 37 5 140746185 140746185 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140746185 140746185 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.2288 p.S763L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 200 0 0 152 40 20.8333 PCDHGA7 0 genome.wustl.edu 37 5 140763130 140763130 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140763130 140763130 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known nonsense c.664 p.R222* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 32 0 0 22 5 18.5185 PCDHGB4 0 genome.wustl.edu 37 5 140768795 140768795 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140768795 140768795 G A SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.1344 p.P448 0.019 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 PCDHGB4 HGNC ENSG00000253953 159 0 0 149 9 5.6962 PCDHGA8 0 genome.wustl.edu 37 5 140773876 140773876 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 140773876 140773876 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1496 p.A499V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 61 0 0 35 18 33.9623 PCDH12 0 genome.wustl.edu 37 5 141334608 141334608 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 141334608 141334608 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.2809 p.R937W 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 114 0 0 98 20 16.9492 SLC6A3 0 genome.wustl.edu 37 5 1414836 1414836 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 1414836 1414836 T C SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.1126 p.S376G 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 58 0 0 52 12 18.75 SPRY4 0 genome.wustl.edu 37 5 141694395 141694395 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 141694395 141694395 G A SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known silent c.348 p.S116 0.505 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 102 0 0 69 31 31 KCTD16 0 genome.wustl.edu 37 5 143853254 143853254 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 143853254 143853254 C T SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known silent c.864 p.C288 0.990 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 91 0 0 59 13 18.0556 JAKMIP2 0 genome.wustl.edu 37 5 147029959 147029959 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 147029959 147029959 C T SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.779 p.S260N 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 70 0 0 72 18 20 FBXO38 0 genome.wustl.edu 37 5 147818048 147818048 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 147818048 147818048 G A SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known missense c.3011 p.R1004H 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 88 0 0 87 17 16.3462 SLC36A2 0 genome.wustl.edu 37 5 150718651 150718651 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 150718651 150718651 G A SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known silent c.495 p.Y165 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 113 0 0 91 38 29.4574 FAT2 0 genome.wustl.edu 37 5 150917383 150917383 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 150917383 150917383 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.9164 p.A3055V 0.987 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 75 0 0 56 19 25.3333 C5orf54 0 genome.wustl.edu 37 5 159821572 159821572 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 159821572 159821572 C T SNP C5orf54 ENST00000408953 human ensembl 74_37 -1 known missense c.926 p.R309H 0.998 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 118 1 0.840336 86 17 16.5049 SLU7 0 genome.wustl.edu 37 5 159835380 159835380 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 159835380 159835380 G A SNP SLU7 ENST00000297151 human ensembl 74_37 -1 known nonsense c.775 p.R259* 0.999 pfam_Slu7 pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 79 0 0 52 16 23.5294 MAT2B 0 genome.wustl.edu 37 5 162943693 162943693 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 162943693 162943693 G A SNP MAT2B ENST00000321757 human ensembl 74_37 +1 known silent c.696 p.R232 0.949 pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 56 0 0 53 19 26.3889 TENM2 0 genome.wustl.edu 37 5 167675370 167675370 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 167675370 167675370 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.7426 p.V2476M 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 23 0 0 13 6 31.5789 WWC1 0 genome.wustl.edu 37 5 167891734 167891734 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 167891734 167891734 C T SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.2917 p.P973S 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 51 0 0 50 15 23.0769 N4BP3 0 genome.wustl.edu 37 5 177548704 177548704 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 177548704 177548704 A C SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known missense c.1337 p.D446A 1.000 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 42 0 0 36 4 10 HNRNPH1 0 genome.wustl.edu 37 5 179044892 179044892 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 179044892 179044892 C T SNP HNRNPH1 ENST00000356731 human ensembl 74_37 -1 known missense c.829 p.G277R 1.000 pfam_Znf_CHHC pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 70 0 0 69 19 21.5909 TBC1D9B 0 genome.wustl.edu 37 5 179306143 179306143 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 179306143 179306143 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.1471 p.R491C 0.982 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 18 0 0 14 6 30 CDH10 0 genome.wustl.edu 37 5 24535293 24535293 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 24535293 24535293 C A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.742 p.G248C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 91 0 0 49 14 22.2222 AHRR 0 genome.wustl.edu 37 5 353844 353844 + Splice_Site SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 353844 353844 G A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known splice_site c.75-1 e3-1 1.000 - - - no_errors AHRR HGNC ENSG00000063438 41 0 0 28 7 20 C7 0 genome.wustl.edu 37 5 40981654 40981654 + Silent SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 40981654 40981654 T G SNP C7 ENST00000313164 human ensembl 74_37 +1 known silent c.2511 p.P837 0.998 smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 33 0 0 22 6 21.4286 HCN1 0 genome.wustl.edu 37 5 45303883 45303883 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 45303883 45303883 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1436 p.A479V 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 110 0 0 104 6 5.45455 SREK1 0 genome.wustl.edu 37 5 65457976 65457976 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 65457976 65457976 G A SNP SREK1 ENST00000334121 human ensembl 74_37 +1 known missense c.451 p.A151T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 125 0 0 63 31 32.9787 ADCY2 0 genome.wustl.edu 37 5 7784525 7784525 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 7784525 7784525 C A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.2432 p.S811Y 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 79 0 0 83 19 18.6275 CMYA5 0 genome.wustl.edu 37 5 79095310 79095310 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 79095310 79095310 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.12081 p.S4027 0.831 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 57 0 0 44 10 18.5185 SSBP2 0 genome.wustl.edu 37 5 80770364 80770364 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 80770364 80770364 T C SNP SSBP2 ENST00000320672 human ensembl 74_37 -1 known silent c.450 p.P150 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 69 0 0 34 20 37.037 NR2F1 0 genome.wustl.edu 37 5 92923744 92923744 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 92923744 92923744 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.585 p.A195 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 118 1 0.840336 73 25 25.5102 GCNT2 0 genome.wustl.edu 37 6 10530035 10530035 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 10530035 10530035 C T SNP GCNT2 ENST00000379597 human ensembl 74_37 +1 known silent c.891 p.D297 0.924 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 146 0 0 102 28 21.5385 SOBP 0 genome.wustl.edu 37 6 107854724 107854724 + Silent SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 107854724 107854724 C A SNP SOBP ENST00000317357 human ensembl 74_37 +1 known silent c.483 p.R161 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 174 0 0 119 28 19.0476 REV3L 0 genome.wustl.edu 37 6 111654417 111654417 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 111654417 111654417 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.7834 p.V2612I 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 52 0 0 33 6 15.3846 FYN 0 genome.wustl.edu 37 6 112024133 112024133 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 112024133 112024133 G A SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.652 p.R218W 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 93 0 0 40 25 38.4615 DSE 0 genome.wustl.edu 37 6 116580003 116580003 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 116580003 116580003 G A SNP DSE ENST00000540275 human ensembl 74_37 +1 known missense c.397 p.D133N 0.996 NULL NULL - no_errors DSE HGNC ENSG00000111817 33 0 0 29 11 27.5 EYA4 0 genome.wustl.edu 37 6 133846244 133846244 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 133846244 133846244 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known silent c.1830 p.A610 0.998 superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 83 0 0 66 37 35.9223 PERP 0 genome.wustl.edu 37 6 138428376 138428376 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 138428376 138428376 G A SNP PERP ENST00000421351 human ensembl 74_37 -1 known silent c.102 p.G34 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC ENSG00000112378 101 0 0 68 31 31.3131 SYNE1 0 genome.wustl.edu 37 6 152708388 152708388 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 152708388 152708388 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.8306 p.K2769T 1.000 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 157 0 0 110 34 23.6111 SYNE1 0 genome.wustl.edu 37 6 152737985 152737985 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 152737985 152737985 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.5587 p.R1863W 0.943 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 107 0 0 51 19 27.1429 PLG 0 genome.wustl.edu 37 6 161135924 161135924 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 161135924 161135924 G T SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.646 p.A216S 0.955 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 43 0 0 32 13 28.8889 MAP3K4 0 genome.wustl.edu 37 6 161523007 161523007 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 161523007 161523007 C A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.3758 p.P1253H 1.000 NULL 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 MAP3K4 HGNC ENSG00000085511 74 0 0 59 16 21.3333 PSMB1 0 genome.wustl.edu 37 6 170858188 170858188 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 170858188 170858188 T A SNP PSMB1 ENST00000262193 human ensembl 74_37 -1 known missense c.127 p.I43F 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB1 HGNC ENSG00000008018 36 0 0 33 16 32.6531 TBP 0 genome.wustl.edu 37 6 170871055 170871055 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 170871055 170871055 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.231 p.Q77 0.993 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 41 0 0 33 7 17.5 TBP 0 genome.wustl.edu 37 6 170871061 170871061 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 170871061 170871061 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.237 p.Q79 0.988 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 38 0 0 36 4 10 CAP2 0 genome.wustl.edu 37 6 17421846 17421846 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 17421846 17421846 G A SNP CAP2 ENST00000229922 human ensembl 74_37 +1 known silent c.60 p.S20 0.181 pfam_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP2 HGNC ENSG00000112186 194 0 0 115 50 30.303 MBOAT1 0 genome.wustl.edu 37 6 20144502 20144502 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 20144502 20144502 A C SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.368 p.I123S 1.000 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 101 0 0 75 27 26.4706 HIST1H2BA 0 genome.wustl.edu 37 6 25727363 25727363 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 25727363 25727363 C T SNP HIST1H2BA ENST00000274764 human ensembl 74_37 +1 known missense c.227 p.A76V 0.993 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BA HGNC ENSG00000146047 83 0 0 63 13 17.1053 SLC17A4 0 genome.wustl.edu 37 6 25777084 25777084 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 25777084 25777084 A G SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.1165 p.R389G 0.972 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 161 0 0 129 40 23.6686 HIST1H2AD 0 genome.wustl.edu 37 6 26199464 26199464 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 26199464 26199464 C T SNP HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known missense c.8 p.G3E 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 36 0 0 19 4 17.3913 HIST1H2BJ 0 genome.wustl.edu 37 6 27100413 27100413 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 27100413 27100413 G A SNP HIST1H2BJ ENST00000339812 human ensembl 74_37 -1 known silent c.117 p.S39 0.951 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BJ HGNC ENSG00000124635 264 0 0 235 19 7.48031 HIST1H2AH 0 genome.wustl.edu 37 6 27115219 27115219 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 27115219 27115219 G A SNP HIST1H2AH ENST00000377459 human ensembl 74_37 +1 known silent c.312 p.A104 0.982 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 132 0 0 78 34 30.3571 MDC1 0 genome.wustl.edu 37 6 30681832 30681832 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 30681832 30681832 G T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.265 p.L89I 0.986 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 106 0 0 71 16 18.3908 MICB 0 genome.wustl.edu 37 6 31474135 31474135 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 31474135 31474135 C T SNP MICB ENST00000252229 human ensembl 74_37 +1 known missense c.541 p.R181C 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICB HGNC ENSG00000204516 67 0 0 40 16 28.5714 DAXX 0 genome.wustl.edu 37 6 33288600 33288600 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 33288600 33288600 G A SNP DAXX ENST00000266000 human ensembl 74_37 -1 known nonsense c.952 p.R318* 1.000 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 150 0 0 119 36 23.2258 ZBTB9 0 genome.wustl.edu 37 6 33423758 33423758 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 33423758 33423758 A C SNP ZBTB9 ENST00000395064 human ensembl 74_37 +1 known missense c.881 p.E294A 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 128 0 0 84 33 28.2051 GRM4 0 genome.wustl.edu 37 6 34101001 34101001 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 34101001 34101001 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.273 p.N91 0.511 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 54 0 0 30 11 26.8293 SCUBE3 0 genome.wustl.edu 37 6 35210956 35210956 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 35210956 35210956 C T SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known nonsense c.1900 p.R634* 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 79 0 0 61 23 27.381 ETV7 0 genome.wustl.edu 37 6 36339242 36339242 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 36339242 36339242 G T SNP ETV7 ENST00000340181 human ensembl 74_37 -1 known missense c.529 p.P177T 0.001 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV7 HGNC ENSG00000010030 10 0 0 11 4 26.6667 DNAH8 0 genome.wustl.edu 37 6 38831683 38831683 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 38831683 38831683 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.5694 p.D1898 1.000 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 DNAH8 HGNC ENSG00000124721 119 0 0 82 28 25.4545 FOXP4 0 genome.wustl.edu 37 6 41562613 41562613 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 41562613 41562613 C T SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known silent c.1542 p.A514 0.960 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 71 0 0 44 12 21.4286 ZNF318 0 genome.wustl.edu 37 6 43325106 43325106 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 43325106 43325106 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known nonsense c.946 p.R316* 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 53 0 0 34 11 24.4444 ENPP4 0 genome.wustl.edu 37 6 46107818 46107818 + Silent SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 46107818 46107818 T C SNP ENPP4 ENST00000321037 human ensembl 74_37 +1 known silent c.498 p.N166 0.001 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 122 0 0 75 47 38.5246 PGK2 0 genome.wustl.edu 37 6 49754076 49754076 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 49754076 49754076 C A SNP PGK2 ENST00000304801 human ensembl 74_37 -1 known missense c.825 p.K275N 0.674 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 164 0 0 122 43 26.0606 BMP5 0 genome.wustl.edu 37 6 55623807 55623807 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 55623807 55623807 G A SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.1211 p.T404I 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 95 0 0 63 22 25.8824 DST 0 genome.wustl.edu 37 6 56470699 56470699 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 56470699 56470699 A T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.8628 p.N2876K 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 32 0 0 31 10 24.3902 EYS 0 genome.wustl.edu 37 6 66044985 66044985 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 66044985 66044985 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1654 p.Y552H 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 79 0 0 49 15 23.4375 TTK 0 genome.wustl.edu 37 6 80751905 80751905 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 80751905 80751905 A G SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2560 p.R854G 0.014 NULL 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 TTK HGNC ENSG00000112742 65 0 0 38 4 9.52381 DOPEY1 0 genome.wustl.edu 37 6 83845559 83845559 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 83845559 83845559 G A SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.3092 p.S1031N 0.884 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 84 0 0 62 30 32.6087 SRSF12 0 genome.wustl.edu 37 6 89808605 89808605 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 89808605 89808605 G A SNP SRSF12 ENST00000452027 human ensembl 74_37 -1 known missense c.478 p.R160W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 198 1 0.502513 168 57 25.3333 UBE2J1 0 genome.wustl.edu 37 6 90052126 90052126 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 90052126 90052126 C T SNP UBE2J1 ENST00000435041 human ensembl 74_37 -1 known missense c.154 p.D52N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J1 HGNC ENSG00000198833 67 0 0 52 10 16.129 FUT9 0 genome.wustl.edu 37 6 96652014 96652014 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 96652014 96652014 G A SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.983 p.R328Q 0.945 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 87 0 0 58 22 27.5 AGFG2 0 genome.wustl.edu 37 7 100153232 100153232 + Splice_Site SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 100153232 100153232 G A SNP AGFG2 ENST00000300176 human ensembl 74_37 +1 known splice_site c.752-1 e6-1 1.000 - - - no_errors AGFG2 HGNC ENSG00000106351 203 0 0 137 50 26.738 SLC12A9 0 genome.wustl.edu 37 7 100457805 100457805 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 100457805 100457805 G A SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.1169 p.R390Q 0.001 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 116 1 0.854701 61 16 20.7792 MUC17 0 genome.wustl.edu 37 7 100679976 100679976 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 100679976 100679976 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.5279 p.P1760L 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 446 2 0.446429 393 119 23.2422 MUC17 0 genome.wustl.edu 37 7 100684965 100684965 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 100684965 100684965 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10268 p.P3423H 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 378 0 0 340 23 6.33609 CUX1 0 genome.wustl.edu 37 7 101845023 101845023 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 101845023 101845023 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.2479 p.R827C 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 35 0 0 28 6 17.6471 LSMEM1 0 genome.wustl.edu 37 7 112127027 112127027 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 112127027 112127027 C T SNP LSMEM1 ENST00000312849 human ensembl 74_37 +1 known silent c.177 p.S59 0.000 NULL NULL - no_errors LSMEM1 HGNC ENSG00000181016 78 0 0 50 18 26.4706 ASZ1 0 genome.wustl.edu 37 7 117067496 117067496 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 117067496 117067496 G A SNP ASZ1 ENST00000284629 human ensembl 74_37 -1 known nonsense c.19 p.R7* 0.001 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC ENSG00000154438 118 1 0.840336 87 32 26.8908 ASZ1 0 genome.wustl.edu 37 7 117067501 117067501 + Missense_Mutation SNP G G C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 117067501 117067501 G C SNP ASZ1 ENST00000284629 human ensembl 74_37 -1 known missense c.14 p.A5G 0.000 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC ENSG00000154438 114 0 0 80 25 23.8095 ASB15 0 genome.wustl.edu 37 7 123269054 123269054 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 123269054 123269054 A G SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.1006 p.T336A 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 114 0 0 118 22 15.7143 ASB15 0 genome.wustl.edu 37 7 123269134 123269134 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 123269134 123269134 C T SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known silent c.1086 p.D362 0.013 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 107 0 0 96 25 20.6612 FLNC 0 genome.wustl.edu 37 7 128470896 128470896 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 128470896 128470896 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.205 p.R69W 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 55 0 0 36 15 29.4118 CPA4 0 genome.wustl.edu 37 7 129948150 129948150 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 129948150 129948150 C T SNP CPA4 ENST00000222482 human ensembl 74_37 +1 known nonsense c.706 p.R236* 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 90 0 0 49 16 24.6154 AKR1B10 0 genome.wustl.edu 37 7 134223007 134223007 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 134223007 134223007 C T SNP AKR1B10 ENST00000359579 human ensembl 74_37 +1 known missense c.803 p.A268V 0.004 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 170 0 0 125 40 24.2424 C7orf49 0 genome.wustl.edu 37 7 134851523 134851523 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 134851523 134851523 C T SNP C7orf49 ENST00000393114 human ensembl 74_37 -1 known missense c.314 p.G105E 0.091 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 116 0 0 79 37 31.8966 TRIM24 0 genome.wustl.edu 37 7 138269680 138269680 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 138269680 138269680 G A SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.3137 p.R1046H 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 78 0 0 54 17 23.9437 MGAM 0 genome.wustl.edu 37 7 141721431 141721431 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 141721431 141721431 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.604 p.V202M 0.273 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 48 0 0 60 14 18.9189 LOC154761 0 genome.wustl.edu 37 7 143510077 143510077 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 143510077 143510077 C T SNP LOC154761 ENST00000481651 human ensembl 74_37 -1 putative rna NULL NULL 0.420 - - - no_errors RP11-61L23.2 Clone_based_vega_gene ENSG00000253882 109 0 0 84 20 19.2308 ZNF786 0 genome.wustl.edu 37 7 148767808 148767808 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 148767808 148767808 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.2056 p.R686C 0.331 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 145 0 0 118 36 23.3766 ZNF786 0 genome.wustl.edu 37 7 148768294 148768294 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 148768294 148768294 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.1570 p.L524F 0.649 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 46 0 0 30 15 33.3333 ZNF786 0 genome.wustl.edu 37 7 148768295 148768295 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 148768295 148768295 C A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.1569 p.K523N 0.341 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 47 0 0 31 15 32.6087 ZNF777 0 genome.wustl.edu 37 7 149129661 149129661 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 149129661 149129661 G A SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.1702 p.H568Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 30 0 0 26 8 23.5294 GIMAP8 0 genome.wustl.edu 37 7 150164346 150164346 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 150164346 150164346 G A SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.560 p.R187H 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 105 0 0 94 33 25.9843 KMT2C 0 genome.wustl.edu 37 7 151970829 151970829 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 151970829 151970829 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.973 p.L325 1.000 smart_Znf_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 244 1 0.408163 261 17 6.11511 KMT2C 0 genome.wustl.edu 37 7 152007084 152007084 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 152007084 152007084 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.816 p.N272 0.964 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 48 0 0 54 12 18.1818 DPP6 0 genome.wustl.edu 37 7 154585857 154585857 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 154585857 154585857 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1205 p.A402V 0.997 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 31 0 0 15 7 31.8182 DPP6 0 genome.wustl.edu 37 7 154598810 154598810 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 154598810 154598810 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1654 p.L552F 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 109 0 0 83 34 29.0598 SP8 0 genome.wustl.edu 37 7 20824584 20824584 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 20824584 20824584 G A SNP SP8 ENST00000418710 human ensembl 74_37 -1 known silent c.852 p.G284 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 17 0 0 5 4 44.4444 SP4 0 genome.wustl.edu 37 7 21470090 21470090 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 21470090 21470090 T C SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.1307 p.I436T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 150 0 0 111 40 26.4901 CCDC126 0 genome.wustl.edu 37 7 23651149 23651149 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 23651149 23651149 A G SNP CCDC126 ENST00000307471 human ensembl 74_37 +1 known missense c.215 p.N72S 1.000 NULL NULL - no_errors CCDC126 HGNC ENSG00000169193 118 0 0 85 35 29.1667 AMZ1 0 genome.wustl.edu 37 7 2749293 2749293 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 2749293 2749293 G A SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known missense c.791 p.C264Y 1.000 pfam_Pept_M54_archaemetzincn pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 71 0 0 58 20 25.641 CCDC129 0 genome.wustl.edu 37 7 31682938 31682938 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 31682938 31682938 T C SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2032 p.Y678H 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 63 0 0 63 5 7.35294 NPSR1 0 genome.wustl.edu 37 7 34867042 34867042 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 34867042 34867042 G A SNP NPSR1 ENST00000381539 human ensembl 74_37 +1 known missense c.508 p.A170T 0.980 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 74 0 0 35 17 32.6923 NPSR1 0 genome.wustl.edu 37 7 34888209 34888209 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 34888209 34888209 C T SNP NPSR1 ENST00000381539 human ensembl 74_37 +1 known missense c.959 p.A320V 0.717 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 191 0 0 151 40 20.9424 ANLN 0 genome.wustl.edu 37 7 36447449 36447449 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 36447449 36447449 C T SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.980 p.T327M 0.676 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 59 0 0 47 15 24.1935 INHBA 0 genome.wustl.edu 37 7 41729812 41729812 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 41729812 41729812 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known silent c.717 p.D239 0.985 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 55 0 0 44 6 12 STK17A 0 genome.wustl.edu 37 7 43647881 43647881 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 43647881 43647881 A T SNP STK17A ENST00000319357 human ensembl 74_37 +1 known missense c.446 p.Q149L 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 STK17A HGNC ENSG00000164543 67 0 0 38 13 25.4902 ADCY1 0 genome.wustl.edu 37 7 45614596 45614596 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 45614596 45614596 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.454 p.A152T 0.099 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 32 0 0 20 5 20 TNS3 0 genome.wustl.edu 37 7 47409180 47409180 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 47409180 47409180 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1063 p.A355T 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 78 0 0 50 12 19.3548 SUMF2 0 genome.wustl.edu 37 7 56136300 56136300 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 56136300 56136300 G A SNP SUMF2 ENST00000342190 human ensembl 74_37 +1 known missense c.250 p.D84N 0.996 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 38 0 0 31 7 18.4211 FSCN1 0 genome.wustl.edu 37 7 5633137 5633137 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 5633137 5633137 C T SNP FSCN1 ENST00000382361 human ensembl 74_37 +1 known silent c.570 p.T190 0.898 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 36 0 0 26 3 10.3448 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 19 0 0 19 3 13.6364 GUSB 0 genome.wustl.edu 37 7 65444796 65444796 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 65444796 65444796 G A SNP GUSB ENST00000304895 human ensembl 74_37 -1 known nonsense c.499 p.R167* 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 97 0 0 71 17 19.3182 AUTS2 0 genome.wustl.edu 37 7 70255373 70255373 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 70255373 70255373 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known silent c.3171 p.G1057 0.022 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 44 0 0 28 7 20 POM121 0 genome.wustl.edu 37 7 72418920 72418920 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 72418920 72418920 C A SNP POM121 ENST00000395270 human ensembl 74_37 +1 known missense c.2911 p.L971I 0.848 NULL NULL - no_errors POM121 HGNC ENSG00000196313 112 0 0 73 37 33.6364 BCL7B 0 genome.wustl.edu 37 7 72951688 72951688 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 72951688 72951688 C T SNP BCL7B ENST00000223368 human ensembl 74_37 -1 known silent c.549 p.P183 0.044 NULL pfam_BCL7 - no_errors BCL7B HGNC ENSG00000106635 108 0 0 95 5 5 NCF1 0 genome.wustl.edu 37 7 74197373 74197373 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 74197373 74197373 C T SNP NCF1 ENST00000289473 human ensembl 74_37 +1 known silent c.543 p.D181 0.857 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX - no_errors NCF1 HGNC ENSG00000158517 63 0 0 38 14 26.9231 GTF2IRD2 0 genome.wustl.edu 37 7 74211661 74211661 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 74211661 74211661 G A SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known silent c.2190 p.I730 0.440 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 22 0 0 22 6 21.4286 PRKAR1B 0 genome.wustl.edu 37 7 751062 751062 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 751062 751062 G A SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known silent c.81 p.I27 0.930 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 111 0 0 78 30 27.7778 RUNDC3B 0 genome.wustl.edu 37 7 87258228 87258228 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 87258228 87258228 C T SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.89 p.A30V 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 21 0 0 25 8 24.2424 CLDN12 0 genome.wustl.edu 37 7 90042012 90042012 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 90042012 90042012 G A SNP CLDN12 ENST00000287916 human ensembl 74_37 +1 known missense c.22 p.A8T 1.000 NULL prints_Claudin12 - no_errors CLDN12 HGNC ENSG00000157224 91 0 0 70 11 13.5802 LMTK2 0 genome.wustl.edu 37 7 97823250 97823250 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 97823250 97823250 G A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.3473 p.S1158N 0.030 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 65 0 0 52 9 14.7541 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99950250 99950250 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 99950250 99950250 G A SNP STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 9 0 0 5 5 50 LRP12 0 genome.wustl.edu 37 8 105502897 105502897 + RNA SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 105502897 105502897 G A SNP LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 0.168 - - - no_errors LRP12 HGNC ENSG00000147650 83 0 0 92 24 20.6897 LRP12 0 genome.wustl.edu 37 8 105503644 105503644 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 105503644 105503644 G A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1780 p.R594C 0.998 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,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 LRP12 HGNC ENSG00000147650 78 0 0 75 14 15.7303 PINX1 0 genome.wustl.edu 37 8 10623027 10623027 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 10623027 10623027 G A SNP PINX1 ENST00000314787 human ensembl 74_37 -1 known silent c.871 p.L291 0.001 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC ENSG00000254093 55 0 0 55 5 8.33333 PKHD1L1 0 genome.wustl.edu 37 8 110477474 110477474 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 110477474 110477474 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.8413 p.G2805W 1.000 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 38 0 0 37 3 7.5 XKR6 0 genome.wustl.edu 37 8 11058331 11058331 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 11058331 11058331 G A SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known missense c.518 p.S173L 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 69 0 0 87 25 22.3214 CSMD3 0 genome.wustl.edu 37 8 113529433 113529433 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 113529433 113529433 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4586 p.R1529H 1.000 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 CSMD3 HGNC ENSG00000164796 50 0 0 56 12 17.6471 NOV 0 genome.wustl.edu 37 8 120435322 120435322 + Nonsense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 120435322 120435322 G T SNP NOV ENST00000259526 human ensembl 74_37 +1 known nonsense c.1024 p.E342* 0.485 pfam_Cys_knot,pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors NOV HGNC ENSG00000136999 238 0 0 216 41 15.9533 COL14A1 0 genome.wustl.edu 37 8 121292217 121292217 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 121292217 121292217 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.3525 p.S1175 0.112 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 60 0 0 63 16 20.2532 ATAD2 0 genome.wustl.edu 37 8 124382152 124382152 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 124382152 124382152 A T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.840 p.D280E 0.521 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 37 0 0 28 10 26.3158 ATAD2 0 genome.wustl.edu 37 8 124382167 124382167 + Missense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 124382167 124382167 A T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.825 p.D275E 0.953 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 32 0 0 26 10 27.7778 ATAD2 0 genome.wustl.edu 37 8 124382185 124382185 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 124382185 124382185 G A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.807 p.D269 0.788 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 37 0 0 27 8 22.8571 WDYHV1 0 genome.wustl.edu 37 8 124449545 124449545 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 124449545 124449545 C T SNP WDYHV1 ENST00000287387 human ensembl 74_37 +1 known missense c.479 p.P160L 0.998 pfam_Prot_N_Gln_amidohydro_ab_roll pfam_Prot_N_Gln_amidohydro_ab_roll - no_errors WDYHV1 HGNC ENSG00000156795 60 0 0 37 12 24.4898 ANXA13 0 genome.wustl.edu 37 8 124696923 124696923 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 124696923 124696923 C T SNP ANXA13 ENST00000262219 human ensembl 74_37 -1 known missense c.881 p.R294H 0.002 pfam_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 106 0 0 118 22 15.7143 FAM91A1 0 genome.wustl.edu 37 8 124810440 124810440 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 124810440 124810440 A G SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.1522 p.T508A 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 107 0 0 94 17 15.3153 FAM135B 0 genome.wustl.edu 37 8 139153505 139153505 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 139153505 139153505 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.3726 p.T1242 0.954 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 107 1 0.925926 111 25 18.3824 AGO2 0 genome.wustl.edu 37 8 141566043 141566043 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 141566043 141566043 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.1221 p.D407 0.919 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 78 0 0 79 20 20.202 CYP11B2 0 genome.wustl.edu 37 8 143994279 143994279 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 143994279 143994279 A G SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.1144 p.L382 0.061 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 43 0 0 29 6 17.1429 ZNF696 0 genome.wustl.edu 37 8 144378347 144378347 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 144378347 144378347 G A SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known missense c.502 p.V168M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 22 0 0 25 4 13.7931 TOP1MT 0 genome.wustl.edu 37 8 144391637 144391637 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 144391637 144391637 T C SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.1780 p.M594V 1.000 superfamily_DNA_brk_join_enz pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 87 0 0 77 21 21.4286 ZC3H3 0 genome.wustl.edu 37 8 144620765 144620765 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 144620765 144620765 G A SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known nonsense c.772 p.Q258* 0.764 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 98 0 0 82 17 17.1717 SCRIB 0 genome.wustl.edu 37 8 144877464 144877464 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 144877464 144877464 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.3754 p.E1252K 0.856 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 151 0 0 112 40 26.3158 NRBP2 0 genome.wustl.edu 37 8 144918173 144918173 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 144918173 144918173 G A SNP NRBP2 ENST00000327830 human ensembl 74_37 -1 known missense c.616 p.R206W 0.999 NULL superfamily_Kinase-like_dom - no_errors NRBP2 HGNC ENSG00000185189 19 0 0 14 10 41.6667 PLEC 0 genome.wustl.edu 37 8 144994837 144994837 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 144994837 144994837 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.9563 p.S3188F 0.604 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 74 0 0 70 18 20.4545 SCRT1 0 genome.wustl.edu 37 8 145557015 145557015 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 145557015 145557015 C T SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known silent c.879 p.A293 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 17 0 0 27 5 15.625 KIFC2 0 genome.wustl.edu 37 8 145693130 145693130 + Missense_Mutation SNP G G C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 145693130 145693130 G C SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known missense c.649 p.E217Q 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 70 0 0 62 18 22.5 RECQL4 0 genome.wustl.edu 37 8 145740361 145740361 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 145740361 145740361 T C SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.1579 p.T527A 0.992 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 47 0 0 30 8 21.0526 ARHGAP39 0 genome.wustl.edu 37 8 145773055 145773055 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 145773055 145773055 G A SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.1415 p.A472V 0.995 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 11 0 0 12 2 14.2857 FGL1 0 genome.wustl.edu 37 8 17722224 17722224 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 17722224 17722224 G T SNP FGL1 ENST00000381840 human ensembl 74_37 -1 known missense c.816 p.S272R 0.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL1 HGNC ENSG00000104760 42 0 0 44 5 10.2041 ARHGEF10 0 genome.wustl.edu 37 8 1893747 1893747 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 1893747 1893747 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.3398 p.R1133H 1.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 76 0 0 59 20 25.3165 ATP6V1B2 0 genome.wustl.edu 37 8 20077788 20077788 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 20077788 20077788 C T SNP ATP6V1B2 ENST00000276390 human ensembl 74_37 +1 known missense c.1411 p.R471C 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC ENSG00000147416 83 0 0 104 15 12.605 EGR3 0 genome.wustl.edu 37 8 22548121 22548121 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 22548121 22548121 C T SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known silent c.1029 p.A343 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 131 0 0 112 31 21.6783 ENTPD4 0 genome.wustl.edu 37 8 23290496 23290496 + Silent SNP G G C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 23290496 23290496 G C SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known silent c.1794 p.A598 0.107 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 42 0 0 28 7 20 NUGGC 0 genome.wustl.edu 37 8 27922054 27922054 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 27922054 27922054 G A SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known silent c.906 p.D302 0.886 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 61 0 0 45 12 21.0526 WRN 0 genome.wustl.edu 37 8 30977901 30977901 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 30977901 30977901 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2591 p.C864Y 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 86 0 0 66 20 23.2558 RAB11FIP1 0 genome.wustl.edu 37 8 37732311 37732311 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 37732311 37732311 C A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.1344 p.K448N 0.439 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 296 0 0 291 63 17.7966 FGFR1 0 genome.wustl.edu 37 8 38275752 38275752 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 38275752 38275752 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.1517 p.R506Q 0.987 pirsf_FGF_rcpt_fam,superfamily_Kinase-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 156 0 0 147 37 20.1087 PLEKHA2 0 genome.wustl.edu 37 8 38810883 38810883 + Silent SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 38810883 38810883 T G SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known silent c.771 p.S257 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 125 0 0 140 31 18.1287 HTRA4 0 genome.wustl.edu 37 8 38832633 38832633 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 38832633 38832633 G A SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known missense c.550 p.V184M 0.149 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 190 0 0 189 52 21.5768 SNAI2 0 genome.wustl.edu 37 8 49833819 49833819 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 49833819 49833819 C T SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known silent c.6 p.P2 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 128 0 0 113 27 19.2857 RB1CC1 0 genome.wustl.edu 37 8 53548618 53548618 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 53548618 53548618 T C SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known missense c.4349 p.H1450R 0.919 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 40 0 0 44 12 21.4286 CHD7 0 genome.wustl.edu 37 8 61763086 61763086 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 61763086 61763086 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.5439 p.P1813 0.202 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 30 0 0 26 5 16.129 ASPH 0 genome.wustl.edu 37 8 62415991 62415991 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 62415991 62415991 C T SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.2204 p.R735Q 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 53 0 0 40 6 13.0435 ZNF705G 0 genome.wustl.edu 37 8 7215795 7215795 + Nonsense_Mutation SNP A A T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 7215795 7215795 A T SNP ZNF705G ENST00000400078 human ensembl 74_37 -1 known nonsense c.606 p.C202* 0.240 smart_Znf_C2H2-like,pfscan_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 ZNF705G HGNC ENSG00000215372 203 1 0.490196 212 43 16.8627 TRPA1 0 genome.wustl.edu 37 8 72945932 72945932 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 72945932 72945932 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2815 p.A939S 0.020 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 55 0 0 52 13 20 TRPA1 0 genome.wustl.edu 37 8 72948688 72948688 + Missense_Mutation SNP C C A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 72948688 72948688 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2390 p.R797M 0.938 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 31 0 0 30 10 25 SPAG11B 0 genome.wustl.edu 37 8 7320274 7320274 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 7320274 7320274 C T SNP SPAG11B ENST00000398462 human ensembl 74_37 -1 known missense c.169 p.A57T 0.000 pfam_Sperm_Ag_HE2 pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC ENSG00000164871 62 0 0 62 11 15.0685 GDAP1 0 genome.wustl.edu 37 8 75276516 75276516 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 75276516 75276516 G A SNP GDAP1 ENST00000220822 human ensembl 74_37 +1 known missense c.991 p.G331R 1.000 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 70 0 0 93 16 14.6789 DCAF4L2 0 genome.wustl.edu 37 8 88885496 88885496 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 88885496 88885496 A G SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.704 p.M235T 0.246 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 151 0 0 130 28 17.7215 TBC1D2 0 genome.wustl.edu 37 9 101014205 101014205 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 101014205 101014205 C T SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known missense c.373 p.A125T 0.061 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 135 0 0 67 19 22.093 ZNF462 0 genome.wustl.edu 37 9 109689884 109689884 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 109689884 109689884 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.3691 p.A1231T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 362 0 0 194 83 29.9639 ZFP37 0 genome.wustl.edu 37 9 115806463 115806463 + Silent SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 115806463 115806463 A G SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known silent c.480 p.T160 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP37 HGNC ENSG00000136866 95 0 0 107 25 18.9394 ZNF618 0 genome.wustl.edu 37 9 116811801 116811801 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 116811801 116811801 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.2219 p.T740M 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 29 0 0 23 6 20.6897 TNC 0 genome.wustl.edu 37 9 117849200 117849200 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 117849200 117849200 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.810 p.C270 0.976 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 102 0 0 84 24 22.2222 ASTN2 0 genome.wustl.edu 37 9 119495677 119495677 + Splice_Site SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 119495677 119495677 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known splice_site c.2521+1 e14+1 1.000 - - - no_errors ASTN2 HGNC ENSG00000148219 259 0 0 219 56 20.3636 TRAF1 0 genome.wustl.edu 37 9 123673661 123673661 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 123673661 123673661 C T SNP TRAF1 ENST00000373887 human ensembl 74_37 -1 known missense c.836 p.R279Q 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 54 0 0 48 8 14.2857 MAPKAP1 0 genome.wustl.edu 37 9 128347904 128347904 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 128347904 128347904 C T SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.601 p.A201T 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 91 0 0 87 26 23.0088 NTMT1 0 genome.wustl.edu 37 9 132397705 132397705 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 132397705 132397705 G A SNP NTMT1 ENST00000372480 human ensembl 74_37 +1 known missense c.634 p.D212N 0.754 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 172 0 0 123 43 25.9036 PPAPDC3 0 genome.wustl.edu 37 9 134165625 134165625 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 134165625 134165625 G A SNP PPAPDC3 ENST00000372264 human ensembl 74_37 +1 known missense c.241 p.A81T 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC3 HGNC ENSG00000160539 133 0 0 99 23 18.8525 UCK1 0 genome.wustl.edu 37 9 134404971 134404971 + Missense_Mutation SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 134404971 134404971 T A SNP UCK1 ENST00000372211 human ensembl 74_37 -1 known missense c.284 p.D95V 1.000 pfam_PRK/URK,superfamily_P-loop_NTPase pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors UCK1 HGNC ENSG00000130717 92 0 0 79 25 24.0385 UCK1 0 genome.wustl.edu 37 9 134405956 134405956 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 134405956 134405956 A G SNP UCK1 ENST00000372211 human ensembl 74_37 -1 known missense c.200 p.L67P 1.000 pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors UCK1 HGNC ENSG00000130717 190 0 0 144 41 22.1622 NTNG2 0 genome.wustl.edu 37 9 135114621 135114621 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 135114621 135114621 C T SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known silent c.1203 p.N401 0.999 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 67 0 0 59 14 19.1781 SETX 0 genome.wustl.edu 37 9 135202830 135202830 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 135202830 135202830 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.4155 p.D1385 0.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 127 0 0 76 23 23.2323 C9orf171 0 genome.wustl.edu 37 9 135285799 135285799 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 135285799 135285799 C T SNP C9orf171 ENST00000343036 human ensembl 74_37 +1 known silent c.141 p.N47 0.999 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 24 0 0 16 9 36 DBH 0 genome.wustl.edu 37 9 136513045 136513045 + Nonsense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 136513045 136513045 G T SNP DBH ENST00000393056 human ensembl 74_37 +1 known nonsense c.1102 p.G368* 1.000 superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 61 0 0 40 4 9.09091 SOHLH1 0 genome.wustl.edu 37 9 138591262 138591262 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 138591262 138591262 C T SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known missense c.52 p.V18I 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 32 0 0 22 5 18.5185 SNAPC4 0 genome.wustl.edu 37 9 139270819 139270819 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139270819 139270819 G A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.4399 p.R1467W 0.070 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 185 0 0 127 41 24.4048 INPP5E 0 genome.wustl.edu 37 9 139325467 139325467 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139325467 139325467 G A SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known missense c.1652 p.T551M 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 50 0 0 34 20 37.037 SEC16A 0 genome.wustl.edu 37 9 139368831 139368831 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139368831 139368831 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.3237 p.S1079 0.060 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 45 0 0 23 14 37.8378 NOTCH1 0 genome.wustl.edu 37 9 139402689 139402689 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139402689 139402689 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.3320 p.R1107Q 0.634 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 70 0 0 50 14 21.875 CLIC3 0 genome.wustl.edu 37 9 139890074 139890074 + RNA SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139890074 139890074 C T SNP CLIC3 ENST00000473911 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CLIC3 HGNC ENSG00000169583 40 0 0 21 10 32.2581 ABCA2 0 genome.wustl.edu 37 9 139904678 139904678 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139904678 139904678 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.6320 p.T2107M 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 23 0 0 17 8 32 MAN1B1 0 genome.wustl.edu 37 9 139994162 139994162 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139994162 139994162 C T SNP MAN1B1 ENST00000371589 human ensembl 74_37 +1 known missense c.745 p.R249C 0.718 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 147 0 0 120 50 29.4118 EXD3 0 genome.wustl.edu 37 9 140242530 140242530 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 140242530 140242530 G A SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.1991 p.A664V 0.585 pfam_Mut7-C_RNAse_dom pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 26 0 0 34 9 20.9302 CNTLN 0 genome.wustl.edu 37 9 17457549 17457549 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 17457549 17457549 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.3142 p.R1048W 0.771 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 88 0 0 71 17 19.3182 MLLT3 0 genome.wustl.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 20414346 20414346 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.498 p.S166 0.975 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 52 0 0 42 13 23.6364 VLDLR 0 genome.wustl.edu 37 9 2644970 2644970 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 2644970 2644970 C T SNP VLDLR ENST00000382100 human ensembl 74_37 +1 known silent c.1200 p.C400 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors VLDLR HGNC ENSG00000147852 166 0 0 121 40 24.8447 TEK 0 genome.wustl.edu 37 9 27217741 27217741 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 27217741 27217741 C T SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.3047 p.T1016I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 74 0 0 60 19 24.0506 NOL6 0 genome.wustl.edu 37 9 33469244 33469244 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 33469244 33469244 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.823 p.R275C 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 138 0 0 78 36 31.5789 STOML2 0 genome.wustl.edu 37 9 35101939 35101939 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 35101939 35101939 C T SNP STOML2 ENST00000356493 human ensembl 74_37 -1 known missense c.304 p.D102N 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 82 0 0 63 20 24.0964 TMEM8B 0 genome.wustl.edu 37 9 35846469 35846469 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 35846469 35846469 C T SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known silent c.501 p.F167 0.511 NULL pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 16 0 0 12 7 36.8421 DCAF10 0 genome.wustl.edu 37 9 37861193 37861193 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 37861193 37861193 C T SNP DCAF10 ENST00000377724 human ensembl 74_37 +1 known silent c.1368 p.R456 0.990 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 120 0 0 96 34 26.1538 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 78 0 0 86 12 12.2449 VPS13A 0 genome.wustl.edu 37 9 79910753 79910753 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 79910753 79910753 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.3803 p.R1268Q 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 59 0 0 44 9 16.9811 GNAQ 0 genome.wustl.edu 37 9 80430566 80430566 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 80430566 80430566 G A SNP GNAQ ENST00000286548 human ensembl 74_37 -1 known nonsense c.442 p.R148* 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors GNAQ HGNC ENSG00000156052 38 0 0 36 17 32.0755 AGTPBP1 0 genome.wustl.edu 37 9 88272486 88272486 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 88272486 88272486 C T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.929 p.R310H 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 41 0 0 30 18 37.5 OMD 0 genome.wustl.edu 37 9 95179158 95179158 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 95179158 95179158 G T SNP OMD ENST00000375550 human ensembl 74_37 -1 known missense c.683 p.P228H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMD HGNC ENSG00000127083 103 0 0 92 28 23.3333 C9orf129 0 genome.wustl.edu 37 9 96080728 96080728 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 96080728 96080728 C T SNP C9orf129 ENST00000375419 human ensembl 74_37 -1 known silent c.543 p.P181 0.000 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 114 0 0 96 17 15.0442 BARX1 0 genome.wustl.edu 37 9 96715033 96715033 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 96715033 96715033 C T SNP BARX1 ENST00000253968 human ensembl 74_37 -1 known missense c.578 p.R193Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors BARX1 HGNC ENSG00000131668 74 0 0 43 18 29.5082 TCEAL5 0 genome.wustl.edu 37 X 102529121 102529121 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 102529121 102529121 G A SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known missense c.371 p.T124M 0.001 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 173 0 0 142 50 26.0417 WBP5 0 genome.wustl.edu 37 X 102612760 102612760 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 102612760 102612760 A G SNP WBP5 ENST00000372656 human ensembl 74_37 +1 known missense c.148 p.I50V 0.979 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors WBP5 HGNC ENSG00000185222 107 1 0.925926 82 27 24.7706 FAM199X 0 genome.wustl.edu 37 X 103432819 103432819 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 103432819 103432819 C T SNP FAM199X ENST00000493442 human ensembl 74_37 +1 known silent c.828 p.S276 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 159 1 0.625 92 32 25.8065 IL1RAPL2 0 genome.wustl.edu 37 X 105011292 105011292 + Missense_Mutation SNP T T G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 105011292 105011292 T G SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.1699 p.C567G 0.972 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 143 1 0.694444 124 35 22.0126 NRK 0 genome.wustl.edu 37 X 105137885 105137885 + Nonsense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 105137885 105137885 C T SNP NRK ENST00000428173 human ensembl 74_37 +1 known nonsense c.439 p.Q147* 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_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 29 0 0 28 12 30 LRCH2 0 genome.wustl.edu 37 X 114384409 114384409 + Missense_Mutation SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 114384409 114384409 A C SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known missense c.1676 p.I559S 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 36 0 0 28 9 24.3243 XPNPEP2 0 genome.wustl.edu 37 X 128880625 128880625 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 128880625 128880625 G A SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known missense c.458 p.R153H 0.000 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 221 0 0 152 65 29.9539 RAB33A 0 genome.wustl.edu 37 X 129318301 129318301 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 129318301 129318301 A G SNP RAB33A ENST00000257017 human ensembl 74_37 +1 known missense c.301 p.S101G 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 89 0 0 86 7 7.52688 FAM9C 0 genome.wustl.edu 37 X 13058875 13058875 + Splice_Site SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 13058875 13058875 A G SNP FAM9C ENST00000333995 human ensembl 74_37 -1 known splice_site c.329+2 e4+2 0.014 - - - no_errors FAM9C HGNC ENSG00000187268 14 0 0 14 10 41.6667 GPR112 0 genome.wustl.edu 37 X 135426784 135426784 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 135426784 135426784 G A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.919 p.V307I 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 132 0 0 100 25 20 GPR101 0 genome.wustl.edu 37 X 136112821 136112821 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 136112821 136112821 C T SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.1013 p.R338H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 327 0 0 272 85 23.8095 GPR101 0 genome.wustl.edu 37 X 136113350 136113350 + Nonsense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 136113350 136113350 G A SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known nonsense c.484 p.Q162* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 50 0 0 32 4 11.1111 SPANXN3 0 genome.wustl.edu 37 X 142596775 142596775 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 142596775 142596775 C T SNP SPANXN3 ENST00000370503 human ensembl 74_37 -1 known missense c.295 p.D99N 0.000 NULL pfam_SPANX_prot - no_errors SPANXN3 HGNC ENSG00000189252 149 0 0 117 40 25.4777 GPR50 0 genome.wustl.edu 37 X 150349107 150349107 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 150349107 150349107 G A SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.1052 p.R351H 0.001 prints_Mel_rcpt_1X pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 209 0 0 134 47 25.9669 MAGEA6 0 genome.wustl.edu 37 X 151869697 151869697 + Silent SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 151869697 151869697 G T SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known silent c.387 p.P129 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 219 0 0 172 13 7.02703 MAGEA6 0 genome.wustl.edu 37 X 151870148 151870148 + Nonsense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 151870148 151870148 G T SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known nonsense c.838 p.E280* 0.016 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 270 0 0 189 62 24.7012 MAGEA3 0 genome.wustl.edu 37 X 151935399 151935399 + Silent SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 151935399 151935399 C G SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known silent c.768 p.L256 0.009 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 221 0 0 148 58 28.1553 ATP2B3 0 genome.wustl.edu 37 X 152813354 152813354 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 152813354 152813354 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.1020 p.G340 0.985 pfam_ATPase_P-typ_transduc_dom_A pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 112 0 0 94 16 14.5455 IDH3G 0 genome.wustl.edu 37 X 153055620 153055620 + RNA SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 153055620 153055620 G T SNP IDH3G ENST00000491235 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors IDH3G HGNC ENSG00000067829 67 0 0 40 18 31.0345 TXLNG 0 genome.wustl.edu 37 X 16836812 16836812 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 16836812 16836812 G A SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known missense c.218 p.G73D 0.103 NULL pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 153 0 0 156 10 6.0241 AKAP17A 0 genome.wustl.edu 37 X 1712983 1712983 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 1712983 1712983 G A SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.628 p.G210R 1.000 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 131 0 0 112 44 28.2051 EIF1AX 0 genome.wustl.edu 37 X 20153954 20153954 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 20153954 20153954 C T SNP EIF1AX ENST00000379607 human ensembl 74_37 -1 known missense c.106 p.A36T 1.000 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A - no_errors EIF1AX HGNC ENSG00000173674 132 0 0 128 37 22.4242 RPS6KA3 0 genome.wustl.edu 37 X 20205970 20205970 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 20205970 20205970 G A SNP RPS6KA3 ENST00000379565 human ensembl 74_37 -1 known silent c.750 p.D250 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 216 0 0 162 50 23.5849 ZBED1 0 genome.wustl.edu 37 X 2407150 2407150 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 2407150 2407150 C T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known silent c.1611 p.T537 0.774 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 58 0 0 29 8 21.6216 ZBED1 0 genome.wustl.edu 37 X 2407741 2407741 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 2407741 2407741 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known silent c.1020 p.N340 0.001 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 39 0 0 26 8 23.5294 MAGEB1 0 genome.wustl.edu 37 X 30268938 30268938 + Missense_Mutation SNP T T C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 30268938 30268938 T C SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known missense c.328 p.W110R 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 47 0 0 31 14 31.1111 DMD 0 genome.wustl.edu 37 X 32235152 32235152 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 32235152 32235152 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6319 p.R2107W 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 35 0 0 36 9 20 MXRA5 0 genome.wustl.edu 37 X 3235934 3235934 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 3235934 3235934 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.5788 p.A1930T 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 85 0 0 59 20 25.3165 FAM47B 0 genome.wustl.edu 37 X 34960964 34960964 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 34960964 34960964 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.16 p.P6S 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 24 0 0 15 3 16.6667 CHST7 0 genome.wustl.edu 37 X 46433662 46433662 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 46433662 46433662 G A SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known missense c.296 p.R99H 0.123 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 30 0 0 27 7 20.5882 CHST7 0 genome.wustl.edu 37 X 46433912 46433912 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 46433912 46433912 G A SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known silent c.546 p.P182 0.283 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 37 0 0 16 4 20 CHST7 0 genome.wustl.edu 37 X 46434160 46434160 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 46434160 46434160 G A SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known missense c.794 p.R265H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 20 0 0 19 8 29.6296 ARAF 0 genome.wustl.edu 37 X 47424204 47424204 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 47424204 47424204 C T SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.209 p.T70M 0.951 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 15 0 0 8 4 33.3333 HDAC6 0 genome.wustl.edu 37 X 48666716 48666716 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 48666716 48666716 C T SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known silent c.831 p.T277 0.849 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 32 0 0 14 10 41.6667 ERAS 0 genome.wustl.edu 37 X 48687744 48687744 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 48687744 48687744 G A SNP ERAS ENST00000338270 human ensembl 74_37 +1 known missense c.211 p.D71N 1.000 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 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 ERAS HGNC ENSG00000187682 79 0 0 54 20 27.027 CACNA1F 0 genome.wustl.edu 37 X 49067892 49067892 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 49067892 49067892 C T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.4183 p.G1395R 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_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 66 0 0 54 17 23.9437 USP27X 0 genome.wustl.edu 37 X 49645650 49645650 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 49645650 49645650 G T SNP USP27X ENST00000508866 human ensembl 74_37 +1 known missense c.740 p.R247M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP27X HGNC ENSG00000242013 8 0 0 2 3 60 DGKK 0 genome.wustl.edu 37 X 50146496 50146496 + RNA SNP T T A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 50146496 50146496 T A SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 71 0 0 64 20 23.8095 IQSEC2 0 genome.wustl.edu 37 X 53285133 53285133 + Missense_Mutation SNP C C G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 53285133 53285133 C G SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.848 p.G283A 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 18 0 0 7 3 30 RIBC1 0 genome.wustl.edu 37 X 53454959 53454959 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 53454959 53454959 C T SNP RIBC1 ENST00000375327 human ensembl 74_37 +1 known silent c.126 p.V42 0.000 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 47 0 0 37 13 26 HUWE1 0 genome.wustl.edu 37 X 53631667 53631667 + Silent SNP A A C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 53631667 53631667 A C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known silent c.2625 p.A875 0.922 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 54 0 0 31 13 29.5455 MTMR8 0 genome.wustl.edu 37 X 63555963 63555963 + Missense_Mutation SNP G G T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 63555963 63555963 G T SNP MTMR8 ENST00000374852 human ensembl 74_37 -1 known missense c.1147 p.Q383K 0.933 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 81 0 0 61 15 19.7368 EDA 0 genome.wustl.edu 37 X 69243069 69243069 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 69243069 69243069 C T SNP EDA ENST00000374552 human ensembl 74_37 +1 known silent c.504 p.G168 1.000 NULL pfam_TNF_dom,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors EDA HGNC ENSG00000158813 38 0 0 34 9 20.9302 OGT 0 genome.wustl.edu 37 X 70757854 70757854 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 70757854 70757854 G A SNP OGT ENST00000373719 human ensembl 74_37 +1 known missense c.394 p.A132T 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 73 0 0 53 16 23.1884 ABCB7 0 genome.wustl.edu 37 X 74376093 74376093 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 74376093 74376093 C T SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known silent c.15 p.A5 0.189 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB7 HGNC ENSG00000131269 31 0 0 12 5 29.4118 ATRX 0 genome.wustl.edu 37 X 76939918 76939918 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 76939918 76939918 A G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.830 p.V277A 1.000 superfamily_Znf_FYVE_PHD pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 255 0 0 186 49 20.8511 MAGT1 0 genome.wustl.edu 37 X 77150883 77150883 + Missense_Mutation SNP A A G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 77150883 77150883 A G SNP MAGT1 ENST00000358075 human ensembl 74_37 -1 known missense c.121 p.C41R 0.460 NULL pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 60 0 0 47 16 25.3968 POU3F4 0 genome.wustl.edu 37 X 82763852 82763852 + Missense_Mutation SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 82763852 82763852 G A SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.520 p.E174K 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 21 0 0 14 6 30 KAL1 0 genome.wustl.edu 37 X 8503632 8503632 + Silent SNP G G A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 8503632 8503632 G A SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known silent c.1842 p.S614 0.242 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 41 0 0 32 10 23.8095 DIAPH2 0 genome.wustl.edu 37 X 96013170 96013170 + Silent SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 96013170 96013170 C T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known silent c.360 p.N120 0.987 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 40 0 0 44 13 22.807 SYTL4 0 genome.wustl.edu 37 X 99956505 99956505 + Missense_Mutation SNP C C T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 99956505 99956505 C T SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known missense c.275 p.R92H 0.988 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 146 0 0 105 40 27.5862 AGL 0 genome.wustl.edu 37 1 100330092 100330093 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 100330092 100330093 - A INS AGL ENST00000294724 human ensembl 74_37 +1 known frame_shift_ins c.611_612 p.E207fs 1.000:1.000 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 85 0 0 68 15 18.0723 APITD1-CORT 0 genome.wustl.edu 37 1 10511575 10511575 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 10511575 10511575 C - DEL APITD1-CORT ENST00000400900 human ensembl 74_37 +1 known frame_shift_del c.418 p.Q142fs 0.032 NULL pfam_Somatostatin/Cortistatin_C,superfamily_Histone-fold - no_errors APITD1-CORT HGNC ENSG00000251503 49 0 0 26 4 13.3333 ARNT 0 genome.wustl.edu 37 1 150784509 150784509 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 150784509 150784509 G - DEL ARNT ENST00000358595 human ensembl 74_37 -1 known frame_shift_del c.2358 p.S788fs 0.637 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 74 0 0 65 20 23.5294 RFX5 0 genome.wustl.edu 37 1 151318740 151318741 + Frame_Shift_Ins INS - - GG TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 151318740 151318741 - GG INS RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_ins c.57_56 p.G20fs 0.652:0.658 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 178 0 0 149 25 14.3678 IVL 0 genome.wustl.edu 37 1 152882397 152882397 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 152882397 152882397 C - DEL IVL ENST00000368764 human ensembl 74_37 +1 known frame_shift_del c.124 p.P43fs 0.031 pfam_Involucrin_N pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 133 0 0 92 22 19.2982 TPM3 0 genome.wustl.edu 37 1 154145243 154145243 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 154145243 154145243 A - DEL TPM3 ENST00000469717 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPM3 HGNC ENSG00000143549 15 0 0 5 7 58.3333 UBE2Q1 0 genome.wustl.edu 37 1 154524953 154524953 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 154524953 154524953 A - DEL UBE2Q1 ENST00000483639 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors UBE2Q1 HGNC ENSG00000160714 117 0 0 96 18 15.7895 CLCNKB 0 genome.wustl.edu 37 1 16378297 16378297 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 16378297 16378297 G - DEL CLCNKB ENST00000375679 human ensembl 74_37 +1 known frame_shift_del c.1390 p.Y466fs 0.710 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 157 0 0 94 26 21.6667 GLRX2 0 genome.wustl.edu 37 1 193066820 193066820 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 193066820 193066820 T - DEL GLRX2 ENST00000367440 human ensembl 74_37 -1 known frame_shift_del c.257 p.K86fs 0.996 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX2 HGNC ENSG00000023572 65 0 0 48 14 22.5806 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,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 DDX59 HGNC ENSG00000118197 54 0 0 58 18 23.6842 PLEKHA6 0 genome.wustl.edu 37 1 204234135 204234135 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 204234135 204234135 G - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.316 p.L106fs 0.995 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 235 0 0 194 31 13.7778 CR1L 0 genome.wustl.edu 37 1 207883744 207883744 + RNA DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 207883744 207883744 C - DEL CR1L ENST00000530905 human ensembl 74_37 +1 known rna NULL NULL 0.653 - - - no_errors CR1L HGNC ENSG00000197721 41 0 0 32 9 21.9512 CD46 0 genome.wustl.edu 37 1 207941222 207941222 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 207941222 207941222 T - DEL CD46 ENST00000469535 human ensembl 74_37 +1 known rna NULL NULL 0.937 - - - no_errors CD46 HGNC ENSG00000117335 38 0 0 20 14 41.1765 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 39 0 0 36 5 12.1951 ABCB10 0 genome.wustl.edu 37 1 229653865 229653865 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 229653865 229653865 T - DEL ABCB10 ENST00000498158 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ABCB10 HGNC ENSG00000135776 16 0 0 8 5 38.4615 ARV1 0 genome.wustl.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 231131567 231131567 A - DEL ARV1 ENST00000310256 human ensembl 74_37 +1 known frame_shift_del c.510 p.K173fs 0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 59 0 0 40 16 28.5714 EGLN1 0 genome.wustl.edu 37 1 231502214 231502214 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 231502214 231502214 T - DEL EGLN1 ENST00000366641 human ensembl 74_37 -1 known frame_shift_del c.1224 p.G409fs 1.000 NULL pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND - no_errors EGLN1 HGNC ENSG00000135766 60 0 0 50 9 15.2542 KIAA1804 0 genome.wustl.edu 37 1 233514889 233514890 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 233514889 233514890 - C INS KIAA1804 ENST00000366624 human ensembl 74_37 +1 known frame_shift_ins c.2137_2138 p.Q715fs 0.000:0.128 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 111 0 0 68 20 22.7273 RBM34 0 genome.wustl.edu 37 1 235301432 235301434 + In_Frame_Del DEL CTC CTC - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 235301432 235301434 CTC - DEL RBM34 ENST00000408888 human ensembl 74_37 -1 known in_frame_del c.759_757 p.E253in_frame_del 0.717:0.738:0.698 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 73 0 0 48 8 14.2857 RYR2 0 genome.wustl.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 237969494 237969494 T - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.14227 p.F4745fs 1.000 pfam_Ion_trans_dom 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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 37 0 0 34 9 20.9302 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 167 0 0 96 39 28.8889 SYTL1 0 genome.wustl.edu 37 1 27680355 27680356 + RNA DEL CT CT - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 27680355 27680356 CT - DEL SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 84 0 0 69 12 14.8148 CSF3R 0 genome.wustl.edu 37 1 36935323 36935323 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 36935323 36935323 G - DEL CSF3R ENST00000373103 human ensembl 74_37 -1 known frame_shift_del c.1404 p.S469fs 0.425 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 162 0 0 138 19 12.1019 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 74 0 0 51 11 17.7419 CTPS1 0 genome.wustl.edu 37 1 41462979 41462979 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 41462979 41462979 T - DEL CTPS1 ENST00000486889 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CTPS1 HGNC ENSG00000171793 27 0 0 21 5 19.2308 GUCA2B 0 genome.wustl.edu 37 1 42620422 42620422 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 42620422 42620422 C - DEL GUCA2B ENST00000372581 human ensembl 74_37 +1 known frame_shift_del c.162 p.R56fs 0.000 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 77 0 0 50 13 20.6349 KLF17 0 genome.wustl.edu 37 1 44595246 44595246 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 44595246 44595246 C - DEL KLF17 ENST00000372299 human ensembl 74_37 +1 known frame_shift_del c.303 p.Q103fs 0.013 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 176 0 0 169 41 19.5238 UROD 0 genome.wustl.edu 37 1 45479967 45479967 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 45479967 45479967 T - DEL UROD ENST00000472254 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors UROD HGNC ENSG00000126088 17 0 0 16 7 30.4348 TAL1 0 genome.wustl.edu 37 1 47691474 47691475 + Frame_Shift_Ins INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 47691474 47691475 - G INS TAL1 ENST00000371883 human ensembl 74_37 -1 known frame_shift_ins c.87_86 p.H30fs 1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL1 HGNC ENSG00000162367 55 0 0 44 14 24.1379 GLIS1 0 genome.wustl.edu 37 1 54060252 54060253 + Frame_Shift_Ins INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 54060252 54060253 - G INS GLIS1 ENST00000312233 human ensembl 74_37 -1 known frame_shift_ins c.324_323 p.L109fs 0.995:0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 53 0 0 60 16 21.0526 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 13 0 0 19 3 13.6364 HFM1 0 genome.wustl.edu 37 1 91781980 91781980 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 91781980 91781980 T - DEL HFM1 ENST00000370425 human ensembl 74_37 -1 known frame_shift_del c.2866 p.I956fs 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 120 0 0 95 27 22.1311 MTF2 0 genome.wustl.edu 37 1 93599829 93599830 + RNA INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 1 93599829 93599830 - T INS MTF2 ENST00000487263 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MTF2 HGNC ENSG00000143033 9 0 0 10 4 28.5714 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 108 0 0 96 24 20 PPAPDC1A 0 genome.wustl.edu 37 10 122263340 122263340 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 122263340 122263340 T - DEL PPAPDC1A ENST00000398250 human ensembl 74_37 +1 known frame_shift_del c.67 p.L24fs 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1A HGNC ENSG00000203805 72 0 0 54 11 16.9231 MTG1 0 genome.wustl.edu 37 10 135233645 135233645 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 135233645 135233645 C - DEL MTG1 ENST00000317502 human ensembl 74_37 +1 known frame_shift_del c.981 p.P329fs 0.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 104 0 0 90 19 17.4312 BEND7 0 genome.wustl.edu 37 10 13538929 13538932 + RNA DEL AAAA AAAA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 13538929 13538932 AAAA - DEL BEND7 ENST00000492675 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.025:0.026:0.026 - - - no_errors BEND7 HGNC ENSG00000165626 10 0 0 12 6 33.3333 C1QL3 0 genome.wustl.edu 37 10 16562483 16562484 + Frame_Shift_Ins INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 16562483 16562484 - T INS C1QL3 ENST00000298943 human ensembl 74_37 -1 known frame_shift_ins c.582_581 p.N194fs 1.000:1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL3 HGNC ENSG00000165985 32 0 0 18 5 21.7391 NSUN6 0 genome.wustl.edu 37 10 18834894 18834895 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 18834894 18834895 - A INS NSUN6 ENST00000377304 human ensembl 74_37 -1 known frame_shift_ins c.1378_1377 p.I459fs 1.000:0.980 prints_RCMT pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 173 0 0 135 32 19.1617 LRRC37A6P 0 genome.wustl.edu 37 10 27539025 27539025 + RNA DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 27539025 27539025 C - DEL LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LRRC37A6P HGNC ENSG00000230445 102 0 0 63 22 25.8824 PTCHD3 0 genome.wustl.edu 37 10 27702951 27702951 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 27702951 27702951 G - DEL PTCHD3 ENST00000438700 human ensembl 74_37 -1 known frame_shift_del c.229 p.R77fs 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 81 0 0 83 22 20.9524 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 43 0 0 33 14 29.7872 C10orf68 0 genome.wustl.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 33018277 33018277 A - DEL C10orf68 ENST00000375025 human ensembl 74_37 +1 known frame_shift_del c.718 p.K242fs 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 85 0 0 69 15 17.8571 FAM21C 0 genome.wustl.edu 37 10 46248059 46248059 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 46248059 46248059 C - DEL FAM21C ENST00000374362 human ensembl 74_37 +1 known frame_shift_del c.1027 p.K345fs 1.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 606 0 0 497 34 6.40301 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680934 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 50680934 50680934 A - DEL ENSG00000235939 ENST00000423283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-123B3.2 Clone_based_vega_gene ENSG00000235939 24 0 0 19 7 26.9231 AGAP7 0 genome.wustl.edu 37 10 51465345 51465346 + Frame_Shift_Ins INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 51465345 51465346 - G INS AGAP7 ENST00000374095 human ensembl 74_37 -1 known frame_shift_ins c.1111_1110 p.S370fs 1.000:0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 260 0 0 177 34 16.1137 ENSG00000231345 0 genome.wustl.edu 37 10 52417853 52417853 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 52417853 52417853 A - DEL ENSG00000231345 ENST00000449695 human ensembl 74_37 +1 known rna NULL NULL 0.553 - - - no_errors RP11-564C4.6 Clone_based_vega_gene ENSG00000231345 14 0 0 7 4 36.3636 ANK3 0 genome.wustl.edu 37 10 61831290 61831290 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 61831290 61831290 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.9349 p.I3117fs 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 223 0 0 168 37 18.0488 RTKN2 0 genome.wustl.edu 37 10 64022582 64022583 + Splice_Site INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 64022582 64022583 - A INS RTKN2 ENST00000373789 human ensembl 74_37 -1 known splice_site_ins c.61-3_61-2 e2-2 1.000:0.881 - - - no_errors RTKN2 HGNC ENSG00000182010 21 0 0 14 4 22.2222 TET1 0 genome.wustl.edu 37 10 70332865 70332865 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 70332865 70332865 C - DEL TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_del c.770 p.V260fs 0.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 96 0 0 72 19 20.8791 H2AFY2 0 genome.wustl.edu 37 10 71851665 71851665 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 71851665 71851665 G - DEL H2AFY2 ENST00000373255 human ensembl 74_37 +1 known frame_shift_del c.432 p.K147fs 1.000 pirsf_Core_histone_macro-H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 90 0 0 60 13 17.8082 FUT11 0 genome.wustl.edu 37 10 75535344 75535344 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 75535344 75535344 G - DEL FUT11 ENST00000372841 human ensembl 74_37 +1 known frame_shift_del c.1380 p.E462fs 1.000 pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT11 HGNC ENSG00000196968 99 0 0 64 26 28.8889 KIN 0 genome.wustl.edu 37 10 7820854 7820854 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 7820854 7820854 T - DEL KIN ENST00000379562 human ensembl 74_37 -1 known frame_shift_del c.505 p.T169fs 1.000 pfam_DNA/RNA-bd_Kin17_cons_domain pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 287 0 0 258 76 22.7545 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 47 0 0 40 13 24.5283 ANKK1 0 genome.wustl.edu 37 11 113270239 113270239 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 113270239 113270239 G - DEL ANKK1 ENST00000303941 human ensembl 74_37 +1 known frame_shift_del c.1548 p.A518fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 17 0 0 17 7 29.1667 BCL9L 0 genome.wustl.edu 37 11 118770652 118770652 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 118770652 118770652 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.3380 p.P1127fs 0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 48 0 0 34 9 20.9302 MICAL2 0 genome.wustl.edu 37 11 12183704 12183705 + Frame_Shift_Ins INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 12183704 12183705 - G INS MICAL2 ENST00000256194 human ensembl 74_37 +1 known frame_shift_ins c.2_3 p.E3fs 1.000:1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 100 0 0 71 15 17.4419 ST14 0 genome.wustl.edu 37 11 130058082 130058083 + Frame_Shift_Ins INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 130058082 130058083 - G INS ST14 ENST00000278742 human ensembl 74_37 +1 known frame_shift_ins c.155_156 p.R54fs 0.918:0.007 pirsf_Peptidase_S1A_matripase pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 65 0 0 51 14 21.5385 SOX6 0 genome.wustl.edu 37 11 16133369 16133369 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 16133369 16133369 G - DEL SOX6 ENST00000352083 human ensembl 74_37 -1 known frame_shift_del c.878 p.P293fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 104 0 0 68 16 19.0476 KRTAP5-4 0 genome.wustl.edu 37 11 1642964 1642965 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 1642964 1642965 - C INS KRTAP5-4 ENST00000399682 human ensembl 74_37 -1 known frame_shift_ins c.360_359 p.C121fs 1.000:0.997 NULL NULL - no_errors KRTAP5-4 HGNC ENSG00000241598 291 0 0 258 23 8.18505 SPTY2D1 0 genome.wustl.edu 37 11 18636246 18636249 + Frame_Shift_Del DEL ACTA ACTA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 ACTA ACTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 18636246 18636249 ACTA - DEL SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_del c.1575_1572 p.S525fs 0.598:0.585:0.570:0.569 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 62 0 0 71 6 7.79221 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 32635951 32635951 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.024 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 45 0 0 42 6 12.5 NAT10 0 genome.wustl.edu 37 11 34160692 34160692 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 34160692 34160692 A - DEL NAT10 ENST00000530017 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors NAT10 HGNC ENSG00000135372 51 0 0 50 13 20.6349 RAG1 0 genome.wustl.edu 37 11 36595554 36595554 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 36595554 36595554 A - DEL RAG1 ENST00000299440 human ensembl 74_37 +1 known frame_shift_del c.700 p.K235fs 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 50 0 0 45 12 21.0526 ART5 0 genome.wustl.edu 37 11 3660979 3660980 + Frame_Shift_Ins INS - - GG TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 3660979 3660980 - GG INS ART5 ENST00000359918 human ensembl 74_37 -1 known frame_shift_ins c.680_679 p.H227fs 0.986:0.988 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART5 HGNC ENSG00000167311 178 0 0 141 24 14.5455 OR4P4 0 genome.wustl.edu 37 11 55406142 55406142 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 55406142 55406142 T - DEL OR4P4 ENST00000314612 human ensembl 74_37 +1 known frame_shift_del c.309 p.F105fs 0.097 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 OR4P4 HGNC ENSG00000181927 66 0 0 33 24 42.1053 ENSG00000254815 0 genome.wustl.edu 37 11 558069 558069 + RNA DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 558069 558069 G - DEL ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 68 0 0 64 9 12.3288 RARRES3 0 genome.wustl.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 63313709 63313709 A - DEL RARRES3 ENST00000255688 human ensembl 74_37 +1 known frame_shift_del c.476 p.A162fs 0.001 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 207 0 0 192 47 19.6653 SF1 0 genome.wustl.edu 37 11 64540917 64540917 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 64540917 64540917 G - DEL SF1 ENST00000377390 human ensembl 74_37 -1 known frame_shift_del c.221 p.P74fs 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 45 0 0 37 10 21.2766 VPS51 0 genome.wustl.edu 37 11 64876853 64876853 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 64876853 64876853 G - DEL VPS51 ENST00000279281 human ensembl 74_37 +1 known frame_shift_del c.1545 p.G517fs 1.000 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 66 0 0 60 19 24.0506 MALAT1 0 genome.wustl.edu 37 11 65270091 65270091 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 65270091 65270091 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 61 0 0 44 11 20 LTBP3 0 genome.wustl.edu 37 11 65308615 65308616 + Frame_Shift_Ins INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 65308615 65308616 - T INS LTBP3 ENST00000301873 human ensembl 74_37 -1 known frame_shift_ins c.2875_2874 p.C958fs 1.000:1.000 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 44 0 0 41 9 18 PPP1CA 0 genome.wustl.edu 37 11 67165933 67165933 + RNA DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 67165933 67165933 C - DEL PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors PPP1CA HGNC ENSG00000172531 12 0 0 6 10 62.5 DNAJB13 0 genome.wustl.edu 37 11 73676057 73676057 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 73676057 73676057 A - DEL DNAJB13 ENST00000339764 human ensembl 74_37 +1 known frame_shift_del c.469 p.I159fs 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB13 HGNC ENSG00000187726 106 0 0 73 19 20.6522 NDUFC2 0 genome.wustl.edu 37 11 77784147 77784147 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 77784147 77784147 A - DEL NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_del c.207 p.F69fs 0.809 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 111 1 0.892857 93 24 20.5128 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154811 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 78154811 78154811 A - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 49 0 0 27 11 28.9474 TENM4 0 genome.wustl.edu 37 11 78412575 78412575 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 78412575 78412575 A - DEL TENM4 ENST00000278550 human ensembl 74_37 -1 known frame_shift_del c.5083 p.Y1695fs 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 14 0 0 26 5 16.129 MRE11A 0 genome.wustl.edu 37 11 94189473 94189473 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 11 94189473 94189473 T - DEL MRE11A ENST00000323929 human ensembl 74_37 -1 known frame_shift_del c.1532 p.N511fs 0.998 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 43 0 0 35 8 18.6047 ASCL4 0 genome.wustl.edu 37 12 108169097 108169097 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 108169097 108169097 C - DEL ASCL4 ENST00000342331 human ensembl 74_37 +1 known frame_shift_del c.105 p.L37fs 0.003 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL4 HGNC ENSG00000187855 42 0 0 52 10 16.129 ACACB 0 genome.wustl.edu 37 12 109604775 109604775 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 109604775 109604775 G - DEL ACACB ENST00000338432 human ensembl 74_37 +1 known frame_shift_del c.763 p.D257fs 1.000 superfamily_PreATP-grasp_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 103 0 0 107 19 15.0794 TCHP 0 genome.wustl.edu 37 12 110418876 110418876 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 110418876 110418876 T - DEL TCHP ENST00000550780 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCHP HGNC ENSG00000139437 129 0 0 134 24 15.1899 ITPR2 0 genome.wustl.edu 37 12 26640046 26640046 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 26640046 26640046 T - DEL ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_del c.5509 p.R1837fs 1.000 superfamily_ARM-type_fold 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 ITPR2 HGNC ENSG00000123104 123 0 0 135 23 14.557 TM7SF3 0 genome.wustl.edu 37 12 27127035 27127036 + Frame_Shift_Ins INS - - CT TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 27127035 27127036 - CT INS TM7SF3 ENST00000343028 human ensembl 74_37 -1 known frame_shift_ins c.1576_1575 p.R525fs 1.000:0.999 NULL NULL - no_errors TM7SF3 HGNC ENSG00000064115 130 0 0 137 17 11.039 PPFIBP1 0 genome.wustl.edu 37 12 27813828 27813829 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 27813828 27813829 - A INS PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known frame_shift_ins c.916_917 p.M308fs 1.000:1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 42 0 0 72 11 13.253 ARID2 0 genome.wustl.edu 37 12 46244967 46244967 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 46244967 46244967 C - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.3061 p.P1022fs 0.983 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 89 0 0 76 9 10.5882 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 48458896 48458896 T - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227 p.G410fs 0.206 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 42 0 0 48 6 11.1111 KMT2D 0 genome.wustl.edu 37 12 49434384 49434384 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 49434384 49434384 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.7169 p.P2390fs 0.637 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 34 0 0 36 19 34.5455 KRT6C 0 genome.wustl.edu 37 12 52867151 52867151 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 52867151 52867151 C - DEL KRT6C ENST00000252250 human ensembl 74_37 -1 known frame_shift_del c.371 p.G124fs 0.051 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 83 0 0 106 8 7.01754 TENC1 0 genome.wustl.edu 37 12 53452869 53452869 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 53452869 53452869 C - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.1474 p.P492fs 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 150 0 0 129 46 26.2857 SMARCC2 0 genome.wustl.edu 37 12 56563591 56563593 + In_Frame_Del DEL CTT CTT - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 56563591 56563593 CTT - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known in_frame_del c.2424_2422 p.K808in_frame_del 1.000:1.000:1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 201 0 0 227 30 11.6732 STAT2 0 genome.wustl.edu 37 12 56744034 56744034 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 56744034 56744034 A - DEL STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors STAT2 HGNC ENSG00000170581 55 0 0 39 10 20.4082 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 157 1 0.632911 155 59 27.5701 XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_del c.370 p.F126fs 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 137 0 0 131 20 13.245 CD4 0 genome.wustl.edu 37 12 6924043 6924043 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 6924043 6924043 G - DEL CD4 ENST00000011653 human ensembl 74_37 +1 known frame_shift_del c.492 p.K167fs 0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 97 0 0 117 25 17.6056 LRRIQ1 0 genome.wustl.edu 37 12 85450035 85450035 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 85450035 85450035 A - DEL LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_del c.1464 p.K490fs 0.001 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 52 0 0 65 11 14.4737 CEP290 0 genome.wustl.edu 37 12 88453675 88453675 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 12 88453675 88453675 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.6651 p.E2218fs 0.999 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 23 0 0 8 5 38.4615 GAS6 0 genome.wustl.edu 37 13 114542718 114542718 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 114542718 114542718 C - DEL GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_del c.449 p.G150fs 0.997 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 203 0 0 143 23 13.8554 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 23 0 0 14 7 33.3333 WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 27255387 27255387 C - DEL WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_del c.913 p.P307fs 0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 99 0 0 74 19 20.4301 DGKH 0 genome.wustl.edu 37 13 42740695 42740696 + Frame_Shift_Ins INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 42740695 42740696 - T INS DGKH ENST00000337343 human ensembl 74_37 +1 known frame_shift_ins c.1003_1004 p.V337fs 1.000:1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 103 0 0 107 10 8.54701 ZC3H13 0 genome.wustl.edu 37 13 46543691 46543691 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 46543691 46543691 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.2988 p.G997fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 91 0 0 94 27 22.314 RCBTB2 0 genome.wustl.edu 37 13 49089392 49089392 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 49089392 49089392 T - DEL RCBTB2 ENST00000430805 human ensembl 74_37 -1 known frame_shift_del c.313 p.I105fs 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 190 0 0 176 47 21.0762 DIAPH3 0 genome.wustl.edu 37 13 60582732 60582732 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 60582732 60582732 A - DEL DIAPH3 ENST00000400324 human ensembl 74_37 -1 known frame_shift_del c.960 p.I320fs 0.303 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 147 0 0 94 26 21.6667 TDRD3 0 genome.wustl.edu 37 13 61109249 61109249 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 61109249 61109249 G - DEL TDRD3 ENST00000535286 human ensembl 74_37 +1 known frame_shift_del c.2000 p.A668fs 1.000 pfam_Tudor,pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 91 0 0 67 22 24.7191 TBC1D4 0 genome.wustl.edu 37 13 76055593 76055593 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 76055593 76055593 C - DEL TBC1D4 ENST00000377636 human ensembl 74_37 -1 known frame_shift_del c.311 p.G104fs 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 120 0 0 69 10 12.6582 DOCK9 0 genome.wustl.edu 37 13 99630097 99630097 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 13 99630097 99630097 G - DEL DOCK9 ENST00000376460 human ensembl 74_37 -1 known frame_shift_del c.67 p.L23fs 0.114 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 9 0 0 14 7 33.3333 INSM2 0 genome.wustl.edu 37 14 36005056 36005057 + Frame_Shift_Ins INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 36005056 36005057 - T INS INSM2 ENST00000307169 human ensembl 74_37 +1 known frame_shift_ins c.1598_1599 p.S536fs 1.000:0.624 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 68 0 0 48 12 20 FAM179B 0 genome.wustl.edu 37 14 45497476 45497476 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 45497476 45497476 A - DEL FAM179B ENST00000361577 human ensembl 74_37 +1 known frame_shift_del c.3602 p.N1203fs 0.975 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 113 0 0 97 31 24.2188 MDGA2 0 genome.wustl.edu 37 14 47530771 47530771 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 47530771 47530771 T - DEL MDGA2 ENST00000439988 human ensembl 74_37 -1 known frame_shift_del c.1206 p.G403fs 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 49 0 0 24 10 29.4118 SNAPC1 0 genome.wustl.edu 37 14 62242911 62242911 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 62242911 62242911 T - DEL SNAPC1 ENST00000216294 human ensembl 74_37 +1 known frame_shift_del c.633 p.F213fs 0.961 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 63 0 0 47 7 12.963 PPP1R36 0 genome.wustl.edu 37 14 65035126 65035126 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 65035126 65035126 A - DEL PPP1R36 ENST00000298705 human ensembl 74_37 +1 known frame_shift_del c.494 p.N167fs 1.000 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 67 0 0 62 13 17.3333 FOXN3 0 genome.wustl.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 89629149 89629151 GAG - DEL FOXN3 ENST00000261302 human ensembl 74_37 -1 known in_frame_del c.1082_1080 p.S361in_frame_del 1.000:1.000:1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 38 0 0 68 6 8.10811 FOXN3 0 genome.wustl.edu 37 14 89878534 89878534 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 89878534 89878534 G - DEL FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_del c.287 p.P96fs 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 86 0 0 78 21 21.2121 CLMN 0 genome.wustl.edu 37 14 95662949 95662949 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 14 95662949 95662949 T - DEL CLMN ENST00000298912 human ensembl 74_37 -1 known frame_shift_del c.2594 p.K865fs 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 51 0 0 50 18 26.4706 SNRPA1 0 genome.wustl.edu 37 15 101833235 101833236 + Frame_Shift_Del DEL TC TC - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 101833235 101833236 TC - DEL SNRPA1 ENST00000254193 human ensembl 74_37 -1 known frame_shift_del c.225_224 p.R75fs 0.998:1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC ENSG00000131876 48 0 0 48 9 15.7895 SNORD116-26 0 genome.wustl.edu 37 15 25344663 25344663 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 25344663 25344663 A - DEL SNORD116-26 ENST00000516006 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-26 HGNC ENSG00000251815 101 0 0 67 19 22.093 SERINC4 0 genome.wustl.edu 37 15 44089043 44089044 + Frame_Shift_Del DEL CT CT - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 44089043 44089044 CT - DEL SERINC4 ENST00000249714 human ensembl 74_37 -1 known frame_shift_del c.208_207 p.R69fs 0.995:0.568 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC4 HGNC ENSG00000184716 273 0 0 197 38 16.1702 SLC28A2 0 genome.wustl.edu 37 15 45564840 45564841 + RNA INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 45564840 45564841 - C INS SLC28A2 ENST00000560767 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SLC28A2 HGNC ENSG00000137860 53 0 0 37 16 30.1887 UNC13C 0 genome.wustl.edu 37 15 54307148 54307148 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 54307148 54307148 T - DEL UNC13C ENST00000260323 human ensembl 74_37 +1 known frame_shift_del c.2048 p.F684fs 0.982 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 71 0 0 43 10 18.8679 RNF111 0 genome.wustl.edu 37 15 59376343 59376343 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 59376343 59376343 C - DEL RNF111 ENST00000434298 human ensembl 74_37 +1 known frame_shift_del c.2340 p.P782fs 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 77 0 0 50 14 21.875 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 186 1 0.534759 160 42 20.7921 C15orf39 0 genome.wustl.edu 37 15 75499804 75499804 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 15 75499804 75499804 C - DEL C15orf39 ENST00000360639 human ensembl 74_37 +1 known frame_shift_del c.1415 p.P474fs 0.848 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 99 0 0 75 33 30.5556 ZC3H7A 0 genome.wustl.edu 37 16 11850178 11850178 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 11850178 11850178 T - DEL ZC3H7A ENST00000355758 human ensembl 74_37 -1 known frame_shift_del c.2477 p.N826fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 81 0 0 62 19 23.4568 CASKIN1 0 genome.wustl.edu 37 16 2230946 2230946 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 2230946 2230946 G - DEL CASKIN1 ENST00000343516 human ensembl 74_37 -1 known frame_shift_del c.2423 p.P808fs 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 18 0 0 9 4 30.7692 SH2B1 0 genome.wustl.edu 37 16 28883208 28883208 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 28883208 28883208 C - DEL SH2B1 ENST00000322610 human ensembl 74_37 +1 known frame_shift_del c.1417 p.R475fs 1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 151 0 0 95 14 12.844 ATP2A1 0 genome.wustl.edu 37 16 28909714 28909714 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 28909714 28909714 C - DEL ATP2A1 ENST00000357084 human ensembl 74_37 +1 known frame_shift_del c.1706 p.P571fs 0.896 superfamily_ATPase_P-typ_cyto_domN,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 ATP2A1 HGNC ENSG00000196296 78 0 0 60 17 22.0779 ATP2A1 0 genome.wustl.edu 37 16 28913640 28913640 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 28913640 28913640 C - DEL ATP2A1 ENST00000357084 human ensembl 74_37 +1 known frame_shift_del c.2457 p.R822fs 0.957 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 ATP2A1 HGNC ENSG00000196296 185 0 0 142 29 16.9591 CLDN6 0 genome.wustl.edu 37 16 3065456 3065456 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 3065456 3065456 C - DEL CLDN6 ENST00000328796 human ensembl 74_37 -1 known frame_shift_del c.567 p.S190fs 0.007 prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 79 0 0 49 18 26.8657 PRSS36 0 genome.wustl.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 31151942 31151942 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2038 p.L680fs 0.448 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 26 0 0 30 7 18.9189 GLYR1 0 genome.wustl.edu 37 16 4862229 4862229 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 4862229 4862229 C - DEL GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_del c.1140 p.R381fs 0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 60 0 0 45 6 11.7647 PLEKHG4 0 genome.wustl.edu 37 16 67322100 67322100 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 67322100 67322100 C - DEL PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known frame_shift_del c.3251 p.P1085fs 0.997 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 179 0 0 156 30 16.129 FA2H 0 genome.wustl.edu 37 16 74752943 74752943 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 74752943 74752943 G - DEL FA2H ENST00000219368 human ensembl 74_37 -1 known frame_shift_del c.729 p.S244fs 0.840 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 87 0 0 55 17 23.6111 TAF1C 0 genome.wustl.edu 37 16 84214674 84214674 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 84214674 84214674 G - DEL TAF1C ENST00000378541 human ensembl 74_37 -1 known frame_shift_del c.1361 p.P454fs 0.870 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 47 0 0 47 11 18.9655 USP7 0 genome.wustl.edu 37 16 9000392 9000393 + Frame_Shift_Ins INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 16 9000392 9000393 - T INS USP7 ENST00000344836 human ensembl 74_37 -1 known frame_shift_ins c.1319_1318 p.T440fs 0.997:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 65 0 0 46 15 24.5902 MAGOH2 0 genome.wustl.edu 37 17 10619361 10619361 + RNA DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 10619361 10619361 C - DEL MAGOH2 ENST00000584384 human ensembl 74_37 -1 known rna NULL NULL 0.211 - - - no_errors MAGOH2 HGNC ENSG00000264176 11 0 0 12 6 33.3333 MYOCD 0 genome.wustl.edu 37 17 12642606 12642606 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 12642606 12642606 C - DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_del c.678 p.S229fs 0.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 92 0 0 63 9 12.5 UBB 0 genome.wustl.edu 37 17 16285784 16285785 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 16285784 16285785 - C INS UBB ENST00000302182 human ensembl 74_37 +1 novel frame_shift_ins c.563_564 p.D191fs 1.000:0.986 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBB HGNC ENSG00000170315 98 0 0 97 25 20.4918 FLCN 0 genome.wustl.edu 37 17 17119709 17119709 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 17119709 17119709 G - DEL FLCN ENST00000285071 human ensembl 74_37 -1 known frame_shift_del c.1285 p.H429fs 1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 40 0 0 35 7 16.6667 SNORD91B 0 genome.wustl.edu 37 17 2232416 2232417 + RNA INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 2232416 2232417 - A INS SNORD91B ENST00000391250 human ensembl 74_37 -1 known rna NULL NULL 0.996:0.982 - - - no_errors SNORD91B HGNC ENSG00000212552 81 0 0 85 20 19.0476 TEFM 0 genome.wustl.edu 37 17 29226569 29226570 + Frame_Shift_Ins INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 29226569 29226570 - T INS TEFM ENST00000581216 human ensembl 74_37 -1 known frame_shift_ins c.701_700 p.T234fs 0.012:0.553 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 167 0 0 105 26 19.8473 LHX1 0 genome.wustl.edu 37 17 35300395 35300395 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 35300395 35300395 C - DEL LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_del c.1188 p.E399fs 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 34 0 0 30 5 14.2857 HCRT 0 genome.wustl.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 40336501 40336503 GCA - DEL HCRT ENST00000293330 human ensembl 74_37 -1 known in_frame_del c.67_65 p.L22in_frame_del 0.998:0.999:1.000 pfam_Orexin,pirsf_Orexin pfam_Orexin,pirsf_Orexin,prints_Orexin - no_errors HCRT HGNC ENSG00000161610 16 0 0 12 2 14.2857 STAT3 0 genome.wustl.edu 37 17 40475061 40475063 + In_Frame_Del DEL CTT CTT - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 40475061 40475063 CTT - DEL STAT3 ENST00000264657 human ensembl 74_37 -1 known in_frame_del c.1849_1847 p.E616in_frame_del 1.000:0.999:1.000 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 202 0 0 148 8 5.12821 WNK4 0 genome.wustl.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 40939870 40939870 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1816 p.V608fs 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 112 1 0.884956 72 17 19.1011 CCDC43 0 genome.wustl.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 42756253 42756253 T - DEL CCDC43 ENST00000315286 human ensembl 74_37 -1 known frame_shift_del c.646 p.R216fs 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 51 0 0 27 6 18.1818 HEXIM1 0 genome.wustl.edu 37 17 43227526 43227531 + In_Frame_Del DEL GGAGCT GGAGCT - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 GGAGCT GGAGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 43227526 43227531 GGAGCT - DEL HEXIM1 ENST00000332499 human ensembl 74_37 +1 known in_frame_del c.969_974 p.LE327in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 126 0 0 139 13 8.55263 HOXB2 0 genome.wustl.edu 37 17 46622001 46622002 + Frame_Shift_Ins INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 46622001 46622002 - G INS HOXB2 ENST00000330070 human ensembl 74_37 -1 known frame_shift_ins c.273_272 p.A92fs 0.982:0.993 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 46 0 0 26 8 23.5294 CAMTA2 0 genome.wustl.edu 37 17 4883437 4883438 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 4883437 4883438 - C INS CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_ins c.1249_1248 p.Q416fs 0.402:0.401 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 64 0 0 53 16 23.1884 COIL 0 genome.wustl.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 55028016 55028016 T - DEL COIL ENST00000240316 human ensembl 74_37 -1 known frame_shift_del c.587 p.K196fs 0.030 NULL NULL - no_errors COIL HGNC ENSG00000121058 111 1 0.892857 104 25 19.3798 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 75 0 0 66 16 19.5122 INTS2 0 genome.wustl.edu 37 17 59949813 59949813 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 59949813 59949813 G - DEL INTS2 ENST00000444766 human ensembl 74_37 -1 known frame_shift_del c.2615 p.P872fs 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 26 0 0 26 5 16.129 TANC2 0 genome.wustl.edu 37 17 61497894 61497894 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 61497894 61497894 C - DEL TANC2 ENST00000424789 human ensembl 74_37 +1 known frame_shift_del c.4551 p.P1519fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 42 0 0 29 7 19.4444 AXIN2 0 genome.wustl.edu 37 17 63532585 63532585 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 63532585 63532585 C - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known frame_shift_del c.1994 p.G665fs 0.436 NULL 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 67 0 0 48 9 15.7895 BPTF 0 genome.wustl.edu 37 17 65971983 65971985 + In_Frame_Del DEL TAC TAC - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 TAC TAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 65971983 65971985 TAC - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known in_frame_del c.9013_9015 p.Y3006in_frame_del 1.000:1.000:1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain 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 118 0 0 108 17 13.6 ABCA6 0 genome.wustl.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 67125767 67125767 A - DEL ABCA6 ENST00000284425 human ensembl 74_37 -1 known frame_shift_del c.917 p.L306fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 94 0 0 104 20 16.129 BCL6B 0 genome.wustl.edu 37 17 6930927 6930927 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 6930927 6930927 G - DEL BCL6B ENST00000293805 human ensembl 74_37 +1 known frame_shift_del c.1429 p.*480fs 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 114 0 0 93 11 10.5769 SDK2 0 genome.wustl.edu 37 17 71429901 71429901 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 71429901 71429901 C - DEL SDK2 ENST00000392650 human ensembl 74_37 -1 known frame_shift_del c.1282 p.A428fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 37 0 0 27 4 12.9032 CBX8 0 genome.wustl.edu 37 17 77768605 77768608 + Frame_Shift_Del DEL GAGG GAGG - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 GAGG GAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 17 77768605 77768608 GAGG - DEL CBX8 ENST00000269385 human ensembl 74_37 -1 known frame_shift_del c.999_996 p.L333fs 1.000:1.000:1.000:1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 55 0 0 51 13 20.3125 OSBPL1A 0 genome.wustl.edu 37 18 21745097 21745097 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 21745097 21745097 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2682 p.K894fs 0.958 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 212 0 0 159 34 17.6166 THOC1 0 genome.wustl.edu 37 18 224097 224097 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 224097 224097 T - DEL THOC1 ENST00000261600 human ensembl 74_37 -1 known frame_shift_del c.1291 p.I431fs 1.000 pfam_THO_THOC1 pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 17 0 0 16 4 20 KLHL14 0 genome.wustl.edu 37 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 30349862 30349862 G - DEL KLHL14 ENST00000359358 human ensembl 74_37 -1 known frame_shift_del c.693 p.V232fs 0.982 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 46 0 0 49 7 12.5 CCDC178 0 genome.wustl.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 30913143 30913143 T - DEL CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_del c.874 p.M292fs 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 39 0 0 33 13 28.2609 ASXL3 0 genome.wustl.edu 37 18 31319986 31319986 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 31319986 31319986 A - DEL ASXL3 ENST00000269197 human ensembl 74_37 +1 known frame_shift_del c.2618 p.V876fs 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 75 0 0 50 12 19.3548 EPG5 0 genome.wustl.edu 37 18 43459143 43459143 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 43459143 43459143 A - DEL EPG5 ENST00000282041 human ensembl 74_37 -1 known frame_shift_del c.5704 p.Y1902fs 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 98 0 0 80 12 13.0435 ZBTB7C 0 genome.wustl.edu 37 18 45566519 45566519 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 45566519 45566519 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.960 p.P321fs 0.989 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 125 0 0 93 13 12.2642 ZBTB7C 0 genome.wustl.edu 37 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 18 45567085 45567085 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.394 p.D132fs 0.050 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 35 0 0 24 8 25 FARSA 0 genome.wustl.edu 37 19 13041103 13041103 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 13041103 13041103 C - DEL FARSA ENST00000314606 human ensembl 74_37 -1 known frame_shift_del c.437 p.G146fs 0.999 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC ENSG00000179115 101 0 0 83 14 14.433 RASAL3 0 genome.wustl.edu 37 19 15569223 15569224 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 15569223 15569224 - C INS RASAL3 ENST00000343625 human ensembl 74_37 -1 known frame_shift_ins c.804_803 p.G269fs 0.010:0.018 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 41 0 0 28 2 6.66667 MBD3 0 genome.wustl.edu 37 19 1584646 1584646 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 1584646 1584646 C - DEL MBD3 ENST00000156825 human ensembl 74_37 -1 known frame_shift_del c.301 p.V101fs 1.000 superfamily_DNA-bd_dom pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 95 0 0 77 12 13.4831 OR10H1 0 genome.wustl.edu 37 19 15917904 15917904 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 15917904 15917904 T - DEL OR10H1 ENST00000334920 human ensembl 74_37 -1 known frame_shift_del c.944 p.N315fs 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 103 0 0 75 23 23.4694 ZNF98 0 genome.wustl.edu 37 19 22575694 22575695 + Frame_Shift_Ins INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 22575694 22575695 - T INS ZNF98 ENST00000357774 human ensembl 74_37 -1 known frame_shift_ins c.343_342 p.C114fs 0.023:0.024 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 ZNF98 HGNC ENSG00000197360 21 0 0 14 4 22.2222 TLE2 0 genome.wustl.edu 37 19 3009578 3009578 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 3009578 3009578 G - DEL TLE2 ENST00000262953 human ensembl 74_37 -1 known frame_shift_del c.1135 p.Q379fs 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 36 0 0 45 6 11.7647 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 36210763 36210764 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K176fs 0.976:0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 124 0 0 85 22 20.5607 ZFR2 0 genome.wustl.edu 37 19 3831693 3831693 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 3831693 3831693 G - DEL ZFR2 ENST00000262961 human ensembl 74_37 -1 known frame_shift_del c.563 p.P188fs 0.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 23 0 0 9 3 25 RYR1 0 genome.wustl.edu 37 19 38948158 38948159 + Frame_Shift_Ins INS - - TG TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 38948158 38948159 - TG INS RYR1 ENST00000359596 human ensembl 74_37 +1 known frame_shift_ins c.1813_1814 p.C609fs 1.000:1.000 pfam_Ca-rel_channel,pfscan_B30.2/SPRY 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 254 0 0 269 44 14.0575 DAPK3 0 genome.wustl.edu 37 19 3964830 3964830 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 3964830 3964830 G - DEL DAPK3 ENST00000301264 human ensembl 74_37 -1 known frame_shift_del c.222 p.N75fs 1.000 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 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 127 0 0 86 21 19.6262 EEF2 0 genome.wustl.edu 37 19 3982258 3982260 + In_Frame_Del DEL CTT CTT - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 3982258 3982260 CTT - DEL EEF2 ENST00000309311 human ensembl 74_37 -1 known in_frame_del c.777_775 p.K259in_frame_del 0.998:1.000:1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 88 0 0 61 10 14.0845 FCGBP 0 genome.wustl.edu 37 19 40363174 40363176 + In_Frame_Del DEL CAT CAT - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 40363174 40363176 CAT - DEL FCGBP ENST00000221347 human ensembl 74_37 -1 known in_frame_del c.14896_14894 p.D4965in_frame_del 0.318:0.270:0.931 pfam_VWF_type-D,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 55 0 0 31 7 18.4211 BCKDHA 0 genome.wustl.edu 37 19 41916544 41916544 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 41916544 41916544 C - DEL BCKDHA ENST00000595085 human ensembl 74_37 +1 known frame_shift_del c.213 p.R74fs 0.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 90 0 0 71 11 13.4146 MEGF8 0 genome.wustl.edu 37 19 42863307 42863307 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 42863307 42863307 G - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.5401 p.R1803fs 1.000 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 19 0 0 23 9 28.125 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 368 1 0.271003 250 61 19.6141 EMC10 0 genome.wustl.edu 37 19 50985132 50985132 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 50985132 50985132 G - DEL EMC10 ENST00000376918 human ensembl 74_37 +1 known frame_shift_del c.693 p.A234fs 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 16 0 0 20 3 13.0435 CDC42EP5 0 genome.wustl.edu 37 19 54976341 54976341 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 54976341 54976341 G - DEL CDC42EP5 ENST00000301200 human ensembl 74_37 -1 known frame_shift_del c.391 p.Q131fs 0.015 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP5 HGNC ENSG00000167617 13 0 0 3 3 50 SAFB2 0 genome.wustl.edu 37 19 5587282 5587282 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 5587282 5587282 G - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2834 p.P945fs 0.100 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 33 0 0 28 4 12.5 U2AF2 0 genome.wustl.edu 37 19 56173906 56173906 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 56173906 56173906 G - DEL U2AF2 ENST00000308924 human ensembl 74_37 +1 known frame_shift_del c.525 p.L178fs 0.923 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 92 0 0 70 11 13.5802 CAMSAP3 0 genome.wustl.edu 37 19 7676686 7676687 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 7676686 7676687 - C INS CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known frame_shift_ins c.1388_1389 p.R466fs 0.192:0.097 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 26 0 0 24 5 17.2414 FBN3 0 genome.wustl.edu 37 19 8193949 8193949 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 19 8193949 8193949 G - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.2259 p.G754fs 0.646 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom 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 112 0 0 86 19 18.0952 SEPT10 0 genome.wustl.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 110301828 110301828 T - DEL SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_del c.1506 p.K502fs 0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 54 0 0 37 14 27.451 AMER3 0 genome.wustl.edu 37 2 131520251 131520251 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 131520251 131520251 C - DEL AMER3 ENST00000321420 human ensembl 74_37 +1 known frame_shift_del c.606 p.P204fs 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 63 0 0 60 12 16.6667 FAM168B 0 genome.wustl.edu 37 2 131813195 131813197 + In_Frame_Del DEL GGA GGA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 131813195 131813197 GGA - DEL FAM168B ENST00000389915 human ensembl 74_37 -1 known in_frame_del c.228_226 p.S76in_frame_del 0.942:1.000:1.000 NULL NULL - no_errors FAM168B HGNC ENSG00000152102 83 0 0 81 8 8.98876 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 124 1 0.8 84 48 36.3636 MBD5 0 genome.wustl.edu 37 2 149270475 149270475 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 149270475 149270475 C - DEL MBD5 ENST00000407073 human ensembl 74_37 +1 known frame_shift_del c.4450 p.K1486fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 214 0 0 85 16 15.8416 KCNJ3 0 genome.wustl.edu 37 2 155566208 155566209 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 155566208 155566209 - C INS KCNJ3 ENST00000295101 human ensembl 74_37 +1 known frame_shift_ins c.796_797 p.L268fs 1.000:1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 93 0 0 83 21 20.1923 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 49 0 0 35 15 30 FKBP7 0 genome.wustl.edu 37 2 179330469 179330470 + RNA DEL AA AA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 179330469 179330470 AA - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 29 0 0 26 7 21.2121 ENSG00000224643 0 genome.wustl.edu 37 2 183948142 183948142 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 183948142 183948142 T - DEL ENSG00000224643 ENST00000444562 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC064871.3 Clone_based_vega_gene ENSG00000224643 20 0 0 7 5 41.6667 FSIP2 0 genome.wustl.edu 37 2 186673640 186673640 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 186673640 186673640 T - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.19874 p.I6626fs 0.287 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 48 0 0 35 15 30 CASP8 0 genome.wustl.edu 37 2 202151290 202151290 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 202151290 202151290 A - DEL CASP8 ENST00000358485 human ensembl 74_37 +1 known frame_shift_del c.1590 p.K532fs 0.061 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 49 0 0 44 12 21.4286 SUMO1 0 genome.wustl.edu 37 2 203096349 203096349 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 203096349 203096349 A - DEL SUMO1 ENST00000409627 human ensembl 74_37 -1 known frame_shift_del c.119 p.L40fs 0.011 NULL NULL - no_errors SUMO1 HGNC ENSG00000116030 11 0 0 8 10 55.5556 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 28 0 0 29 18 38.2979 ERBB4 0 genome.wustl.edu 37 2 213403254 213403254 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 213403254 213403254 T - DEL ERBB4 ENST00000342788 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 112 0 0 96 19 16.5217 SLC4A3 0 genome.wustl.edu 37 2 220505288 220505288 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 220505288 220505288 A - DEL SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_del c.3495 p.K1166fs 0.678 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 156 0 0 97 24 19.8347 SP140 0 genome.wustl.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 231159025 231159025 A - DEL SP140 ENST00000392045 human ensembl 74_37 +1 known frame_shift_del c.2008 p.K672fs 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 36 0 0 40 10 20 PSMD1 0 genome.wustl.edu 37 2 231931679 231931680 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 231931679 231931680 - A INS PSMD1 ENST00000308696 human ensembl 74_37 +1 known frame_shift_ins c.364_365 p.P125fs 1.000:1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 38 0 0 25 5 16.6667 UGT1A4 0 genome.wustl.edu 37 2 234627977 234627977 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 234627977 234627977 T - DEL UGT1A4 ENST00000373409 human ensembl 74_37 +1 known frame_shift_del c.511 p.W173fs 0.388 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 227 0 0 158 38 19.3878 ACP1 0 genome.wustl.edu 37 2 272080 272081 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 272080 272081 - C INS ACP1 ENST00000272065 human ensembl 74_37 +1 known frame_shift_ins c.161_162 p.D57fs 1.000:1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_phospatase/Ars_reductase pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ENSG00000143727 106 0 0 81 18 18.1818 ENSG00000272056 0 genome.wustl.edu 37 2 27276505 27276505 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 27276505 27276505 T - DEL ENSG00000272056 ENST00000607407 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-503P10.1 Clone_based_vega_gene ENSG00000272056 28 0 0 17 7 29.1667 LCLAT1 0 genome.wustl.edu 37 2 30863560 30863560 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 30863560 30863560 T - DEL LCLAT1 ENST00000491680 human ensembl 74_37 +1 known rna NULL NULL 0.304 - - - no_errors LCLAT1 HGNC ENSG00000172954 25 0 0 24 7 22.5806 CLHC1 0 genome.wustl.edu 37 2 55436777 55436777 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 55436777 55436777 T - DEL CLHC1 ENST00000401408 human ensembl 74_37 -1 known frame_shift_del c.690 p.K230fs 0.009 pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC ENSG00000162994 72 0 0 44 10 18.5185 DYSF 0 genome.wustl.edu 37 2 71801492 71801492 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 71801492 71801492 G - DEL DYSF ENST00000413539 human ensembl 74_37 +1 known frame_shift_del c.3432 p.A1146fs 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 149 0 0 111 33 22.9167 WBP1 0 genome.wustl.edu 37 2 74687410 74687410 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 74687410 74687410 C - DEL WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_del c.412 p.P140fs 0.993 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 220 0 0 167 47 21.9626 TAF1B 0 genome.wustl.edu 37 2 9989571 9989572 + Frame_Shift_Del DEL AA AA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 2 9989571 9989572 AA - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187_188 p.N66fs 0.991:0.950 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 20 0 0 17 3 15 CST4 0 genome.wustl.edu 37 20 23667826 23667826 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 23667826 23667826 C - DEL CST4 ENST00000217423 human ensembl 74_37 -1 known frame_shift_del c.241 p.V81fs 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST4 HGNC ENSG00000101441 283 0 0 288 37 11.3846 DYNLRB1 0 genome.wustl.edu 37 20 33128468 33128469 + RNA INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 33128468 33128469 - C INS DYNLRB1 ENST00000480759 human ensembl 74_37 +1 known rna NULL NULL 0.284:0.003 - - - no_errors DYNLRB1 HGNC ENSG00000125971 25 0 0 38 7 15.5556 TOP1 0 genome.wustl.edu 37 20 39725955 39725955 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 39725955 39725955 A - DEL TOP1 ENST00000361337 human ensembl 74_37 +1 known frame_shift_del c.826 p.N277fs 1.000 pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 94 0 0 93 44 32.1168 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 63 0 0 59 13 18.0556 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 52 0 0 26 20 43.4783 CDH26 0 genome.wustl.edu 37 20 58587783 58587784 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 20 58587783 58587784 - A INS CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_ins c.2497_2498 p.*834fs 0.000:0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 48 0 0 44 8 15.3846 NRIP1 0 genome.wustl.edu 37 21 16338967 16338967 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 16338967 16338967 T - DEL NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_del c.1547 p.N516fs 0.004 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 222 0 0 184 43 18.9427 PDE9A 0 genome.wustl.edu 37 21 44195538 44195539 + RNA DEL AA AA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 21 44195538 44195539 AA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 11 0 0 10 4 28.5714 CECR6 0 genome.wustl.edu 37 22 17601118 17601119 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 17601118 17601119 - C INS CECR6 ENST00000331437 human ensembl 74_37 -1 known frame_shift_ins c.900_899 p.G301fs 0.003:0.008 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 24 0 0 13 7 35 CDC42EP1 0 genome.wustl.edu 37 22 37962639 37962639 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 37962639 37962639 C - DEL CDC42EP1 ENST00000249014 human ensembl 74_37 +1 known frame_shift_del c.283 p.R97fs 0.001 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP1 HGNC ENSG00000128283 72 0 0 47 16 25.3968 RABL2B 0 genome.wustl.edu 37 22 51208039 51208039 + RNA DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 22 51208039 51208039 G - DEL RABL2B ENST00000465063 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RABL2B HGNC ENSG00000079974 57 0 0 44 10 18.5185 CCDC80 0 genome.wustl.edu 37 3 112357095 112357095 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 112357095 112357095 T - DEL CCDC80 ENST00000206423 human ensembl 74_37 -1 known frame_shift_del c.1658 p.K553fs 0.979 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 31 0 0 30 8 21.0526 ZDHHC23 0 genome.wustl.edu 37 3 113679540 113679540 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 113679540 113679540 T - DEL ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.004 - - - no_errors ZDHHC23 HGNC ENSG00000184307 93 0 0 63 15 19.2308 KBTBD12 0 genome.wustl.edu 37 3 127703079 127703079 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 127703079 127703079 C - DEL KBTBD12 ENST00000405109 human ensembl 74_37 +1 known frame_shift_del c.1830 p.P612fs 0.999 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 89 0 0 75 11 12.7907 FBLN2 0 genome.wustl.edu 37 3 13612536 13612536 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 13612536 13612536 C - DEL FBLN2 ENST00000404922 human ensembl 74_37 +1 known frame_shift_del c.681 p.P229fs 0.020 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 13 0 0 8 4 33.3333 SLC35G2 0 genome.wustl.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 136573486 136573486 A - DEL SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_del c.184 p.66fs 1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 139 1 0.714286 102 32 23.8806 PBX2P1 0 genome.wustl.edu 37 3 142895298 142895298 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 142895298 142895298 T - DEL PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors PBX2P1 HGNC ENSG00000244171 61 0 0 44 9 16.9811 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 40 0 0 32 3 8.57143 AP2M1 0 genome.wustl.edu 37 3 183898974 183898975 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 183898974 183898975 - A INS AP2M1 ENST00000292807 human ensembl 74_37 +1 known frame_shift_ins c.667_668 p.Q225fs 1.000:1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 203 0 0 185 34 15.5251 TNK2 0 genome.wustl.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 195595228 195595229 - G INS TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_ins c.2130_2129 p.P711fs 0.449:0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 98 0 0 77 10 11.4943 PAK2 0 genome.wustl.edu 37 3 196541368 196541368 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 196541368 196541368 G - DEL PAK2 ENST00000327134 human ensembl 74_37 +1 known frame_shift_del c.982 p.S330fs 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_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 161 0 0 160 12 6.97674 ANO10 0 genome.wustl.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 43647213 43647213 T - DEL ANO10 ENST00000292246 human ensembl 74_37 -1 known frame_shift_del c.132 p.D45fs 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 55 0 0 67 16 19.2771 BSN 0 genome.wustl.edu 37 3 49680380 49680381 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 49680380 49680381 - A INS BSN ENST00000296452 human ensembl 74_37 +1 known frame_shift_ins c.1313_1314 p.H440fs 0.998:0.993 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 43 0 0 44 12 21.4286 APEH 0 genome.wustl.edu 37 3 49712736 49712736 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 49712736 49712736 G - DEL APEH ENST00000296456 human ensembl 74_37 +1 known frame_shift_del c.266 p.E91fs 1.000 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 47 0 0 22 4 15.3846 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 70 0 0 58 8 12.1212 IL17RB 0 genome.wustl.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 3 53889347 53889347 A - DEL IL17RB ENST00000288167 human ensembl 74_37 +1 known frame_shift_del c.508 p.K172fs 0.036 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 46 0 0 38 6 13.6364 ARSJ 0 genome.wustl.edu 37 4 114824639 114824639 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 114824639 114824639 A - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.591 p.F197fs 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 222 1 0.44843 150 42 21.875 PHF17 0 genome.wustl.edu 37 4 129783052 129783052 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 129783052 129783052 C - DEL PHF17 ENST00000226319 human ensembl 74_37 +1 known frame_shift_del c.1175 p.R394fs 0.698 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 192 0 0 124 37 22.9814 ZNF330 0 genome.wustl.edu 37 4 142143532 142143532 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 142143532 142143532 A - DEL ZNF330 ENST00000262990 human ensembl 74_37 +1 known frame_shift_del c.7 p.K5fs 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 54 0 0 34 12 26.087 CPEB2 0 genome.wustl.edu 37 4 15067858 15067858 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 15067858 15067858 T - DEL CPEB2 ENST00000538197 human ensembl 74_37 +1 known frame_shift_del c.2959 p.C989fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 187 0 0 113 27 19.2857 PET112 0 genome.wustl.edu 37 4 152679951 152679951 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 152679951 152679951 A - DEL PET112 ENST00000263985 human ensembl 74_37 -1 known frame_shift_del c.300 p.F100fs 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 132 1 0.75188 106 24 18.4615 FBXW7 0 genome.wustl.edu 37 4 153249360 153249361 + Frame_Shift_Ins INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 153249360 153249361 - T INS FBXW7 ENST00000281708 human ensembl 74_37 -1 known frame_shift_ins c.1418_1417 p.R473fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 172 0 0 169 43 20.283 CLCN3 0 genome.wustl.edu 37 4 170628202 170628204 + In_Frame_Del DEL AAG AAG - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 170628202 170628204 AAG - DEL CLCN3 ENST00000347613 human ensembl 74_37 +1 known in_frame_del c.1934_1936 p.E647in_frame_del 1.000:1.000:1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 110 0 0 118 28 19.1781 NEIL3 0 genome.wustl.edu 37 4 178257356 178257356 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 178257356 178257356 A - DEL NEIL3 ENST00000264596 human ensembl 74_37 +1 known frame_shift_del c.508 p.K171fs 0.992 pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 104 0 0 75 23 23.4694 WHSC1 0 genome.wustl.edu 37 4 1980559 1980559 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 1980559 1980559 C - DEL WHSC1 ENST00000382891 human ensembl 74_37 +1 known frame_shift_del c.4021 p.P1343fs 0.982 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 38 0 0 24 7 22.5806 KLF3 0 genome.wustl.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 38690460 38690460 A - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.312 p.K106fs 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 106 0 0 91 32 26.0163 KLF3 0 genome.wustl.edu 37 4 38691475 38691476 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 38691475 38691476 - C INS KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_ins c.670_671 p.Q227fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 171 1 0.581395 144 23 13.7725 CLOCK 0 genome.wustl.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 56336954 56336954 A - DEL CLOCK ENST00000309964 human ensembl 74_37 -1 known frame_shift_del c.368 p.L123fs 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 131 0 0 102 33 24.4444 AASDH 0 genome.wustl.edu 37 4 57220355 57220355 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 57220355 57220355 A - DEL AASDH ENST00000205214 human ensembl 74_37 -1 known frame_shift_del c.1233 p.D413fs 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 75 0 0 78 17 17.8947 WDFY3 0 genome.wustl.edu 37 4 85676453 85676453 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 4 85676453 85676453 A - DEL WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_del c.5525 p.L1842fs 0.996 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 70 0 0 66 10 13.1579 PRR16 0 genome.wustl.edu 37 5 120022314 120022314 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 120022314 120022314 C - DEL PRR16 ENST00000407149 human ensembl 74_37 +1 known frame_shift_del c.825 p.P277fs 0.994 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 73 0 0 61 10 14.0845 CHSY3 0 genome.wustl.edu 37 5 129240751 129240751 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 129240751 129240751 C - DEL CHSY3 ENST00000305031 human ensembl 74_37 +1 known frame_shift_del c.229 p.A79fs 0.999 NULL pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 10 0 0 13 3 18.75 EGFLAM 0 genome.wustl.edu 37 5 38407191 38407192 + Frame_Shift_Ins INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 38407191 38407192 - G INS EGFLAM ENST00000354891 human ensembl 74_37 +1 known frame_shift_ins c.1090_1091 p.S367fs 1.000:0.996 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 70 0 0 65 7 9.72222 SREK1IP1 0 genome.wustl.edu 37 5 64023941 64023941 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 64023941 64023941 T - DEL SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known frame_shift_del c.271 p.R91fs 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 8 0 0 5 2 28.5714 BDP1 0 genome.wustl.edu 37 5 70766233 70766233 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 70766233 70766233 T - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.931 p.L313fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 50 0 0 40 19 32.2034 ANKRD34B 0 genome.wustl.edu 37 5 79854592 79854592 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 79854592 79854592 G - DEL ANKRD34B ENST00000338682 human ensembl 74_37 -1 known frame_shift_del c.1247 p.P416fs 0.100 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34B HGNC ENSG00000189127 151 0 0 117 36 23.5294 CAST 0 genome.wustl.edu 37 5 96071876 96071876 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 96071876 96071876 A - DEL CAST ENST00000395813 human ensembl 74_37 +1 known frame_shift_del c.631 p.E213fs 1.000 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 42 0 0 35 7 16.6667 FAM174A 0 genome.wustl.edu 37 5 99921980 99921980 + RNA DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 5 99921980 99921980 G - DEL FAM174A ENST00000505792 human ensembl 74_37 +1 putative rna NULL NULL 0.045 - - - no_errors FAM174A HGNC ENSG00000174132 48 0 0 29 6 17.1429 NT5DC1 0 genome.wustl.edu 37 6 116542291 116542291 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 116542291 116542291 A - DEL NT5DC1 ENST00000319550 human ensembl 74_37 +1 known frame_shift_del c.604 p.K203fs 0.992 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 108 0 0 72 23 24.2105 ADTRP 0 genome.wustl.edu 37 6 11714640 11714640 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 11714640 11714640 A - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADTRP HGNC ENSG00000111863 13 0 0 17 6 26.087 MED23 0 genome.wustl.edu 37 6 131917389 131917389 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 131917389 131917389 T - DEL MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 13 0 0 5 6 54.5455 CLDN20 0 genome.wustl.edu 37 6 155596997 155596997 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 155596997 155596997 C - DEL CLDN20 ENST00000367165 human ensembl 74_37 +1 known frame_shift_del c.144 p.H48fs 0.070 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN20 HGNC ENSG00000171217 124 0 0 123 29 19.0789 DTNBP1 0 genome.wustl.edu 37 6 15638037 15638038 + Splice_Site INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 15638037 15638038 - A INS DTNBP1 ENST00000355917 human ensembl 74_37 -1 known splice_site_ins c.162-3_162-2 e4-2 1.000:0.999 - - - no_errors DTNBP1 HGNC ENSG00000047579 115 0 0 76 26 25.4902 DLL1 0 genome.wustl.edu 37 6 170594673 170594674 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 170594673 170594674 - C INS DLL1 ENST00000366756 human ensembl 74_37 -1 known frame_shift_ins c.846_845 p.L283fs 0.973:1.000 smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 100 0 0 70 17 19.5402 HIST1H2BM 0 genome.wustl.edu 37 6 27782855 27782855 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 27782855 27782855 A - DEL HIST1H2BM ENST00000359465 human ensembl 74_37 +1 known frame_shift_del c.34 p.G14fs 0.997 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BM HGNC ENSG00000196374 128 0 0 111 30 21.2766 HLA-F 0 genome.wustl.edu 37 6 29691905 29691905 + RNA DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 29691905 29691905 G - DEL HLA-F ENST00000485513 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-F HGNC ENSG00000204642 21 0 0 19 9 32.1429 TRIM26 0 genome.wustl.edu 37 6 30157254 30157254 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 30157254 30157254 T - DEL TRIM26 ENST00000437089 human ensembl 74_37 -1 known frame_shift_del c.845 p.K282fs 0.012 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 118 0 0 127 22 14.7651 CFB 0 genome.wustl.edu 37 6 31919130 31919131 + Frame_Shift_Del DEL GA GA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 31919130 31919131 GA - DEL CFB ENST00000556679 human ensembl 74_37 +1 known frame_shift_del c.3475_3476 p.D1161fs 1.000:1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 109 0 0 95 17 15.1786 UBR2 0 genome.wustl.edu 37 6 42641611 42641611 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 42641611 42641611 G - DEL UBR2 ENST00000372899 human ensembl 74_37 +1 known frame_shift_del c.4169 p.C1390fs 0.999 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 79 0 0 51 9 15 ENPP5 0 genome.wustl.edu 37 6 46133081 46133081 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 46133081 46133081 A - DEL ENPP5 ENST00000492313 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors ENPP5 HGNC ENSG00000112796 57 0 0 56 13 18.8406 MLIP 0 genome.wustl.edu 37 6 53989505 53989505 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 53989505 53989505 G - DEL MLIP ENST00000274897 human ensembl 74_37 +1 known frame_shift_del c.454 p.I154fs 0.001 NULL NULL - no_errors MLIP HGNC ENSG00000146147 133 0 0 112 27 19.4245 HMGCLL1 0 genome.wustl.edu 37 6 55300341 55300342 + RNA INS - - T TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 55300341 55300342 - T INS HMGCLL1 ENST00000507223 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HMGCLL1 HGNC ENSG00000146151 12 0 0 8 3 27.2727 BMP6 0 genome.wustl.edu 37 6 7727711 7727711 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 7727711 7727711 C - DEL BMP6 ENST00000283147 human ensembl 74_37 +1 known frame_shift_del c.523 p.P176fs 0.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 26 0 0 11 6 35.2941 TTK 0 genome.wustl.edu 37 6 80751905 80751906 + Frame_Shift_Del DEL AG AG - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 80751905 80751906 AG - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2560_2561 p.R854fs 0.014:0.089 NULL 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 TTK HGNC ENSG00000112742 79 0 0 37 13 26 TTK 0 genome.wustl.edu 37 6 80751906 80751906 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 80751906 80751906 G - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2561 p.G855fs 0.089 NULL 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 TTK HGNC ENSG00000112742 79 0 0 37 13 26 RARS2 0 genome.wustl.edu 37 6 88234285 88234286 + Frame_Shift_Del DEL AG AG - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 6 88234285 88234286 AG - DEL RARS2 ENST00000369536 human ensembl 74_37 -1 known frame_shift_del c.964_963 p.Y322fs 1.000:0.998 pfam_Arg-tRNA-synth_Ia_core,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 111 0 0 91 23 20.1754 GIGYF1 0 genome.wustl.edu 37 7 100285170 100285170 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 100285170 100285170 G - DEL GIGYF1 ENST00000275732 human ensembl 74_37 -1 known frame_shift_del c.331 p.L111fs 0.025 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 36 0 0 45 12 21.0526 ZAN 0 genome.wustl.edu 37 7 100350136 100350136 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 100350136 100350136 C - DEL ZAN ENST00000546292 human ensembl 74_37 +1 known frame_shift_del c.2408 p.T805fs 0.001 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 115 0 0 91 27 22.8814 SLC26A4 0 genome.wustl.edu 37 7 107340600 107340600 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 107340600 107340600 A - DEL SLC26A4 ENST00000265715 human ensembl 74_37 +1 known frame_shift_del c.1687 p.K564fs 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 49 0 0 45 14 23.7288 JHDM1D 0 genome.wustl.edu 37 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 139833448 139833448 T - DEL JHDM1D ENST00000397560 human ensembl 74_37 -1 known frame_shift_del c.289 p.R97fs 1.000 superfamily_Znf_FYVE_PHD pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 74 0 0 57 13 18.5714 SSPO 0 genome.wustl.edu 37 7 149503959 149503960 + RNA INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 149503959 149503960 - C INS SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors SSPO HGNC ENSG00000197558 19 0 0 20 3 13.0435 ATG9B 0 genome.wustl.edu 37 7 150721322 150721322 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 150721322 150721322 G - DEL ATG9B ENST00000377974 human ensembl 74_37 -1 known frame_shift_del c.189 p.S64fs 0.005 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 17 0 0 8 6 42.8571 ASIC3 0 genome.wustl.edu 37 7 150747867 150747867 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 150747867 150747867 G - DEL ASIC3 ENST00000297512 human ensembl 74_37 +1 known frame_shift_del c.836 p.G280fs 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 47 0 0 52 7 11.8644 ZPBP 0 genome.wustl.edu 37 7 50023089 50023089 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 50023089 50023089 A - DEL ZPBP ENST00000046087 human ensembl 74_37 -1 known frame_shift_del c.810 p.F270fs 0.978 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 25 0 0 22 5 18.5185 ZNF479 0 genome.wustl.edu 37 7 57188741 57188741 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 57188741 57188741 T - DEL ZNF479 ENST00000331162 human ensembl 74_37 -1 known frame_shift_del c.381 p.K127fs 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 157 0 0 109 24 18.0451 AKAP9 0 genome.wustl.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 91671392 91671393 AG - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.4986_4987 p.R1666fs 1.000:1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 51 0 0 42 8 16 ANKIB1 0 genome.wustl.edu 37 7 91936914 91936914 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 91936914 91936914 A - DEL ANKIB1 ENST00000265742 human ensembl 74_37 +1 known frame_shift_del c.430 p.N146fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 45 0 0 48 10 17.2414 TAF6 0 genome.wustl.edu 37 7 99709365 99709368 + Frame_Shift_Del DEL AGAG AGAG - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 7 99709365 99709368 AGAG - DEL TAF6 ENST00000344095 human ensembl 74_37 -1 known frame_shift_del c.886_883 p.L295fs 0.998:0.983:0.999:0.993 superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 153 0 0 76 29 27.619 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 144 0 0 147 19 11.4458 MTMR9 0 genome.wustl.edu 37 8 11162508 11162509 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 11162508 11162509 - A INS MTMR9 ENST00000221086 human ensembl 74_37 +1 known frame_shift_ins c.576_577 p.N194fs 0.997:0.997 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 66 0 0 61 13 17.5676 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL 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 CSMD3 HGNC ENSG00000164796 77 0 0 89 13 12.7451 ZHX1 0 genome.wustl.edu 37 8 124266059 124266059 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 124266059 124266059 C - DEL ZHX1 ENST00000297857 human ensembl 74_37 -1 known frame_shift_del c.2128 p.D710fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 124 0 0 124 31 20 FAM135B 0 genome.wustl.edu 37 8 139160899 139160899 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 139160899 139160899 T - DEL FAM135B ENST00000395297 human ensembl 74_37 -1 known frame_shift_del c.3312 p.E1105fs 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 30 0 0 56 9 13.8462 MTUS1 0 genome.wustl.edu 37 8 17612310 17612310 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 17612310 17612310 T - DEL MTUS1 ENST00000262102 human ensembl 74_37 -1 known frame_shift_del c.1007 p.N336fs 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 148 0 0 161 33 17.0103 GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 37791834 37791834 T - DEL GOT1L1 ENST00000307599 human ensembl 74_37 -1 known frame_shift_del c.1243 p.T415fs 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 87 0 0 108 19 14.9606 BAG4 0 genome.wustl.edu 37 8 38067995 38067995 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 38067995 38067995 A - DEL BAG4 ENST00000287322 human ensembl 74_37 +1 known frame_shift_del c.1358 p.G456fs 1.000 smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 68 0 0 64 14 17.9487 RAB2A 0 genome.wustl.edu 37 8 61504440 61504441 + Frame_Shift_Ins INS - - A TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 8 61504440 61504441 - A INS RAB2A ENST00000262646 human ensembl 74_37 +1 known frame_shift_ins c.386_387 p.E132fs 1.000:0.983 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2A HGNC ENSG00000104388 71 0 0 98 18 15.5172 IKBKAP 0 genome.wustl.edu 37 9 111681574 111681575 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 111681574 111681575 - C INS IKBKAP ENST00000374647 human ensembl 74_37 -1 known frame_shift_ins c.608_607 p.D203fs 1.000:1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 58 0 0 62 10 13.8889 PTPN3 0 genome.wustl.edu 37 9 112145799 112145799 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 112145799 112145799 G - DEL PTPN3 ENST00000374541 human ensembl 74_37 -1 known frame_shift_del c.2286 p.D763fs 0.022 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 158 0 0 113 27 19.2857 ZNF618 0 genome.wustl.edu 37 9 116812464 116812464 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 116812464 116812464 A - DEL ZNF618 ENST00000470105 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF618 HGNC ENSG00000157657 110 1 0.900901 99 12 10.8108 DAB2IP 0 genome.wustl.edu 37 9 124536636 124536637 + Frame_Shift_Ins INS - - C TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 124536636 124536637 - C INS DAB2IP ENST00000408936 human ensembl 74_37 +1 known frame_shift_ins c.3065_3066 p.H1025fs 1.000:0.988 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 43 0 0 21 7 25 GTF3C5 0 genome.wustl.edu 37 9 135929265 135929265 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 135929265 135929265 A - DEL GTF3C5 ENST00000372108 human ensembl 74_37 +1 known frame_shift_del c.924 p.N310fs 0.821 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 111 1 0.892857 99 21 17.5 NOTCH1 0 genome.wustl.edu 37 9 139390736 139390736 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139390736 139390736 G - DEL NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_del c.7455 p.S2486fs 1.000 pfam_DUF3454_notch,pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 19 0 0 10 5 33.3333 ENTPD2 0 genome.wustl.edu 37 9 139945517 139945517 + Frame_Shift_Del DEL C C - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 139945517 139945517 C - DEL ENTPD2 ENST00000355097 human ensembl 74_37 -1 known frame_shift_del c.611 p.G204fs 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 127 0 0 119 21 15 CBWD1 0 genome.wustl.edu 37 9 146222 146222 + RNA DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 146222 146222 A - DEL CBWD1 ENST00000475411 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CBWD1 HGNC ENSG00000172785 74 0 0 47 14 22.9508 TESK1 0 genome.wustl.edu 37 9 35607525 35607526 + RNA INS - - G TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 35607525 35607526 - G INS TESK1 ENST00000463897 human ensembl 74_37 +1 known rna NULL NULL 0.034:0.031 - - - no_errors TESK1 HGNC ENSG00000107140 131 0 0 111 27 19.5652 SLC25A51 0 genome.wustl.edu 37 9 37887779 37887779 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 37887779 37887779 T - DEL SLC25A51 ENST00000242275 human ensembl 74_37 -1 known frame_shift_del c.769 p.I257fs 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC ENSG00000122696 123 0 0 107 11 9.32203 IARS 0 genome.wustl.edu 37 9 95003101 95003102 + RNA DEL AA AA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 95003101 95003102 AA - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.005 - - - no_errors IARS HGNC ENSG00000196305 32 0 0 16 4 20 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 25 0 0 21 4 16 FANCB 0 genome.wustl.edu 37 X 14863040 14863040 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 14863040 14863040 A - DEL FANCB ENST00000324138 human ensembl 74_37 -1 known frame_shift_del c.1865 p.L622fs 0.328 NULL NULL - no_errors FANCB HGNC ENSG00000181544 241 1 0.413223 207 59 22.1805 PNMA3 0 genome.wustl.edu 37 X 152225667 152225667 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 152225667 152225667 G - DEL PNMA3 ENST00000370264 human ensembl 74_37 +1 known frame_shift_del c.255 p.89fs 0.011 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 135 0 0 100 14 12.2807 SH3KBP1 0 genome.wustl.edu 37 X 19560215 19560215 + Frame_Shift_Del DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 19560215 19560215 G - DEL SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known frame_shift_del c.1720 p.L574fs 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 121 0 0 107 10 8.54701 AKAP4 0 genome.wustl.edu 37 X 49955569 49955569 + RNA DEL G G - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 49955569 49955569 G - DEL AKAP4 ENST00000481402 human ensembl 74_37 -1 known rna NULL NULL 0.755 - - - no_errors AKAP4 HGNC ENSG00000147081 68 0 0 54 16 22.8571 GSPT2 0 genome.wustl.edu 37 X 51487865 51487865 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 51487865 51487865 A - DEL GSPT2 ENST00000340438 human ensembl 74_37 +1 known frame_shift_del c.1143 p.K383fs 0.997 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 71 0 0 55 14 20.2899 SPIN3 0 genome.wustl.edu 37 X 57020676 57020676 + Frame_Shift_Del DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 57020676 57020676 T - DEL SPIN3 ENST00000374919 human ensembl 74_37 -1 known frame_shift_del c.705 p.K235fs 0.995 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN3 HGNC ENSG00000204271 81 0 0 64 19 22.8916 CXorf65 0 genome.wustl.edu 37 X 70325942 70325942 + Frame_Shift_Del DEL A A - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 70325942 70325942 A - DEL CXorf65 ENST00000374251 human ensembl 74_37 -1 known frame_shift_del c.158 p.F53fs 0.812 NULL NULL - no_errors CXorf65 HGNC ENSG00000204165 99 0 0 71 29 29 XIST 0 genome.wustl.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 73046080 73046080 T - DEL XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 143 0 0 148 9 5.73248 XIST 0 genome.wustl.edu 37 X 73071846 73071847 + RNA DEL AA AA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 73071846 73071847 AA - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.114 - - - no_errors XIST HGNC ENSG00000229807 42 0 0 17 6 26.087 PBDC1 0 genome.wustl.edu 37 X 75393486 75393489 + Splice_Site DEL GTGA GTGA - TCGA-D7-A4YV-01A-11D-A25D-08 TCGA-D7-A4YV-10A-01D-A25E-08 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5adc47c4-651b-456b-9c37-0a2980dddc44 a1f1d449-d527-42ca-96e4-96095e5c3c25 X 75393486 75393489 GTGA - DEL PBDC1 ENST00000373358 human ensembl 74_37 +1 known splice_site_del c.96+1_96+1 e2+1 1.000:1.000:1.000:1.000 - - - no_errors PBDC1 HGNC ENSG00000102390 75 0 0 49 14 22.2222