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 FNDC7 0 genome.wustl.edu 37 1 109271412 109271412 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 109271412 109271412 C T SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.1531 p.R511W 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 88 0 0 31 10 24.3902 CELSR2 0 genome.wustl.edu 37 1 109794328 109794328 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 109794328 109794328 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.1627 p.R543C 0.966 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 99 0 0 42 20 32.2581 ATP5F1 0 genome.wustl.edu 37 1 112003567 112003567 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 112003567 112003567 C T SNP ATP5F1 ENST00000369722 human ensembl 74_37 +1 known missense c.722 p.A241V 0.701 pfam_ATPase_B_chain/sub_B/MI25 pfam_ATPase_B_chain/sub_B/MI25 - no_errors ATP5F1 HGNC ENSG00000116459 48 0 0 22 2 8.33333 RSBN1 0 genome.wustl.edu 37 1 114309057 114309057 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 114309057 114309057 C T SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.1954 p.E652K 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 102 0 0 27 11 28.9474 ENSG00000203849 0 genome.wustl.edu 37 1 142714007 142714007 + RNA SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 142714007 142714007 T C SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.142 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 13 0 0 7 6 46.1538 ENSG00000231734 0 genome.wustl.edu 37 1 143720274 143720274 + RNA SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 143720274 143720274 A C SNP ENSG00000231734 ENST00000417260 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP6-206I17.2 Clone_based_vega_gene ENSG00000231734 17 0 0 6 3 33.3333 PDE4DIP 0 genome.wustl.edu 37 1 144906453 144906453 + Silent SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 144906453 144906453 T G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known silent c.2404 p.R802 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 223 0 0 100 30 23.0769 RPRD2 0 genome.wustl.edu 37 1 150443610 150443610 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 150443610 150443610 G A SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.2186 p.R729Q 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 85 0 0 50 13 20.6349 ZNF687 0 genome.wustl.edu 37 1 151262876 151262876 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 151262876 151262876 C T SNP ZNF687 ENST00000368879 human ensembl 74_37 +1 known missense c.3107 p.P1036L 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 85 0 0 50 12 19.3548 CLK2 0 genome.wustl.edu 37 1 155234561 155234561 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 155234561 155234561 C A SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.938 p.R313L 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 CLK2 HGNC ENSG00000176444 66 0 0 28 14 33.3333 OR10K2 0 genome.wustl.edu 37 1 158390237 158390237 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 158390237 158390237 C A SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known silent c.420 p.V140 0.000 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 OR10K2 HGNC ENSG00000180708 151 1 0.657895 86 26 23.2143 OR10X1 0 genome.wustl.edu 37 1 158549497 158549497 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 158549497 158549497 T G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.193 p.T65P 0.001 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 OR10X1 HGNC ENSG00000186400 121 0 0 53 21 28.3784 SPTA1 0 genome.wustl.edu 37 1 158637761 158637761 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 158637761 158637761 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1925 p.K642T 1.000 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 139 0 0 70 29 29.2929 QSOX1 0 genome.wustl.edu 37 1 180163458 180163458 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 180163458 180163458 G T SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.1399 p.V467L 0.932 pfam_ERV/ALR_sulphydryl_oxidase,superfamily_ERV/ALR_sulphydryl_oxidase pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 115 0 0 36 43 54.4304 LAMC2 0 genome.wustl.edu 37 1 183190066 183190066 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 183190066 183190066 G T SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.610 p.V204F 0.953 superfamily_Growth_fac_rcpt_N_dom pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 82 0 0 33 12 26.6667 ATP2B4 0 genome.wustl.edu 37 1 203680140 203680140 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 203680140 203680140 C T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.1935 p.F645 0.280 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma 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 ATP2B4 HGNC ENSG00000058668 176 0 0 77 24 23.7624 CENPF 0 genome.wustl.edu 37 1 214820722 214820722 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 214820722 214820722 C A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.7809 p.D2603E 0.078 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 49 0 0 9 16 64 NBPF3 0 genome.wustl.edu 37 1 21806543 21806543 + Splice_Site SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 21806543 21806543 G C SNP NBPF3 ENST00000318249 human ensembl 74_37 +1 known splice_site c.1209-1 e10-1 0.003 - - - no_errors NBPF3 HGNC ENSG00000142794 99 0 0 17 11 39.2857 GJC2 0 genome.wustl.edu 37 1 228345589 228345589 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 228345589 228345589 G A SNP GJC2 ENST00000366714 human ensembl 74_37 +1 known missense c.130 p.E44K 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 30 0 0 14 16 53.3333 TTC13 0 genome.wustl.edu 37 1 231047280 231047280 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 231047280 231047280 A T SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.2245 p.C749S 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 60 0 0 15 11 42.3077 NID1 0 genome.wustl.edu 37 1 236157005 236157005 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 236157005 236157005 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2695 p.V899M 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 21 0 0 29 13 30.9524 CHRM3 0 genome.wustl.edu 37 1 240072345 240072345 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 240072345 240072345 C A SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.1594 p.L532M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 121 0 0 86 14 14 OR2T3 0 genome.wustl.edu 37 1 248637589 248637589 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 248637589 248637589 G C SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.938 p.R313T 0.018 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T3 HGNC ENSG00000196539 345 0 0 206 48 18.8976 PRDM16 0 genome.wustl.edu 37 1 3328498 3328498 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 3328498 3328498 C G SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1737 p.F579L 0.112 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 180 0 0 87 35 28.6885 GJA4 0 genome.wustl.edu 37 1 35260778 35260778 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 35260778 35260778 C T SNP GJA4 ENST00000342280 human ensembl 74_37 +1 known missense c.964 p.R322C 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 62 0 0 14 11 44 RIMS3 0 genome.wustl.edu 37 1 41092239 41092239 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 41092239 41092239 G A SNP RIMS3 ENST00000372683 human ensembl 74_37 -1 known missense c.877 p.R293C 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS3 HGNC ENSG00000117016 41 0 0 5 15 75 CC2D1B 0 genome.wustl.edu 37 1 52825375 52825375 + Splice_Site SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 52825375 52825375 A G SNP CC2D1B ENST00000371586 human ensembl 74_37 -1 known splice_site c.942+2 e7+2 0.986 - - - no_errors CC2D1B HGNC ENSG00000154222 21 0 0 7 3 30 NDC1 0 genome.wustl.edu 37 1 54298164 54298164 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 54298164 54298164 T C SNP NDC1 ENST00000371429 human ensembl 74_37 -1 known silent c.279 p.A93 1.000 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors NDC1 HGNC ENSG00000058804 43 0 0 15 4 21.0526 DNAJC11 0 genome.wustl.edu 37 1 6706039 6706039 + Splice_Site SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 6706039 6706039 C T SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known splice_site c.705-1 e8-1 1.000 - - - no_errors DNAJC11 HGNC ENSG00000007923 190 0 0 63 55 46.6102 CAMTA1 0 genome.wustl.edu 37 1 7724156 7724156 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 7724156 7724156 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.1549 p.P517S 0.860 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,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 153 0 0 62 30 32.6087 GFI1 0 genome.wustl.edu 37 1 92946613 92946613 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 92946613 92946613 C T SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known missense c.331 p.E111K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 43 0 0 16 13 44.8276 FAM178A 0 genome.wustl.edu 37 10 102709894 102709894 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 102709894 102709894 T C SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.3182 p.V1061A 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 101 0 0 69 40 36.6972 MGEA5 0 genome.wustl.edu 37 10 103563707 103563707 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 103563707 103563707 G C SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known missense c.821 p.A274G 1.000 pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 185 0 0 107 24 18.3206 PSD 0 genome.wustl.edu 37 10 104173948 104173948 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 104173948 104173948 C A SNP PSD ENST00000020673 human ensembl 74_37 -1 known silent c.1131 p.G377 0.003 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 PSD HGNC ENSG00000059915 145 0 0 87 26 23.0088 GPR26 0 genome.wustl.edu 37 10 125426576 125426576 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 125426576 125426576 T C SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.653 p.V218A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 8 0 0 45 4 8.16327 PPP2R2D 0 genome.wustl.edu 37 10 133754196 133754196 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 133754196 133754196 C T SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known missense c.382 p.R128W 0.991 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 32 0 0 31 4 11.4286 MYO3A 0 genome.wustl.edu 37 10 26500926 26500926 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 26500926 26500926 C T SNP MYO3A ENST00000543632 human ensembl 74_37 +1 known missense c.1931 p.A644V 0.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 28 0 0 7 16 69.5652 KIAA1462 0 genome.wustl.edu 37 10 30318557 30318557 + Nonsense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 30318557 30318557 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known nonsense c.520 p.R174* 0.723 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 398 0 0 174 15 7.93651 AGAP7 0 genome.wustl.edu 37 10 51472611 51472611 + Silent SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 51472611 51472611 C G SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known silent c.369 p.S123 0.964 NULL 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 198 0 0 138 15 9.80392 AGAP7 0 genome.wustl.edu 37 10 51472618 51472618 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 51472618 51472618 A G SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.362 p.L121S 0.993 NULL 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 210 0 0 147 15 9.25926 AGAP6 0 genome.wustl.edu 37 10 51769587 51769587 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 51769587 51769587 C T SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.1633 p.R545C 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP 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 AGAP6 HGNC ENSG00000204149 154 0 0 71 25 26.0417 BICC1 0 genome.wustl.edu 37 10 60546751 60546751 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 60546751 60546751 C T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.456 p.G152 0.991 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 83 0 0 35 15 30 JMJD1C 0 genome.wustl.edu 37 10 64953291 64953291 + RNA SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 64953291 64953291 T A SNP JMJD1C ENST00000490669 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors JMJD1C HGNC ENSG00000171988 27 0 0 10 3 23.0769 EIF4EBP2 0 genome.wustl.edu 37 10 72179853 72179853 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 72179853 72179853 T C SNP EIF4EBP2 ENST00000373218 human ensembl 74_37 +1 known missense c.329 p.V110A 0.998 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP2 HGNC ENSG00000148730 114 0 0 55 18 24.6575 PRF1 0 genome.wustl.edu 37 10 72360440 72360440 + Nonsense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 72360440 72360440 G T SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known nonsense c.219 p.C73* 1.000 NULL pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 77 0 0 18 20 52.6316 ZCCHC24 0 genome.wustl.edu 37 10 81146114 81146114 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 81146114 81146114 C T SNP ZCCHC24 ENST00000372336 human ensembl 74_37 -1 known missense c.713 p.R238H 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC24 HGNC ENSG00000165424 41 0 0 34 11 24.4444 ZFYVE27 0 genome.wustl.edu 37 10 99511150 99511150 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 99511150 99511150 C T SNP ZFYVE27 ENST00000356257 human ensembl 74_37 +1 known silent c.822 p.D274 0.999 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 135 0 0 89 17 16.0377 DBX1 0 genome.wustl.edu 37 11 20177850 20177850 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 20177850 20177850 C T SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known silent c.1059 p.A353 0.975 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DBX1 HGNC ENSG00000109851 205 0 0 78 53 40.458 SLC17A6 0 genome.wustl.edu 37 11 22380965 22380965 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 22380965 22380965 C T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known silent c.465 p.F155 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 58 0 0 23 6 20.6897 ALX4 0 genome.wustl.edu 37 11 44286723 44286723 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 44286723 44286723 G A SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known missense c.917 p.P306L 0.998 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 33 0 0 16 5 23.8095 ARHGAP1 0 genome.wustl.edu 37 11 46701257 46701257 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 46701257 46701257 C T SNP ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known missense c.968 p.R323Q 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 161 0 0 46 22 32.3529 OR8K1 0 genome.wustl.edu 37 11 56113601 56113601 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 56113601 56113601 G A SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known silent c.87 p.L29 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 97 0 0 26 19 42.2222 OR5M10 0 genome.wustl.edu 37 11 56344314 56344314 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 56344314 56344314 C G SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.884 p.R295T 0.004 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 377 0 0 102 51 33.3333 APBB1 0 genome.wustl.edu 37 11 6432422 6432422 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 6432422 6432422 G A SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known silent c.156 p.S52 0.791 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 247 0 0 80 66 45.2055 NRXN2 0 genome.wustl.edu 37 11 64480956 64480956 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 64480956 64480956 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.216 p.G72 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 NRXN2 HGNC ENSG00000110076 14 0 0 7 3 30 GAL3ST3 0 genome.wustl.edu 37 11 65810589 65810589 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 65810589 65810589 G A SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.685 p.R229C 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 156 0 0 48 18 27.2727 DNAJB13 0 genome.wustl.edu 37 11 73679403 73679403 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 73679403 73679403 T C SNP DNAJB13 ENST00000339764 human ensembl 74_37 +1 known missense c.620 p.I207T 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 88 0 0 19 15 44.1176 EIF3F 0 genome.wustl.edu 37 11 8009011 8009011 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 8009011 8009011 G C SNP EIF3F ENST00000537635 human ensembl 74_37 +1 known missense c.157 p.V53L 0.002 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3F HGNC ENSG00000175390 74 0 0 38 18 32.1429 FAM181B 0 genome.wustl.edu 37 11 82444444 82444444 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 82444444 82444444 C T SNP FAM181B ENST00000329203 human ensembl 74_37 -1 known missense c.328 p.A110T 0.536 NULL NULL - no_errors FAM181B HGNC ENSG00000182103 9 0 0 3 3 50 GRM5 0 genome.wustl.edu 37 11 88258490 88258490 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 11 88258490 88258490 C G SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2713 p.A905P 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 409 0 0 202 70 25.7353 SSH1 0 genome.wustl.edu 37 12 109182208 109182208 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 109182208 109182208 G T SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.2706 p.F902L 0.020 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 104 0 0 43 11 20.3704 TMEM116 0 genome.wustl.edu 37 12 112374526 112374526 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 112374526 112374526 G T SNP TMEM116 ENST00000552374 human ensembl 74_37 -1 known silent c.558 p.G186 1.000 NULL prints_GCR1-cAMP_receptor - no_errors TMEM116 HGNC ENSG00000198270 110 0 0 67 24 26.3736 TRAFD1 0 genome.wustl.edu 37 12 112587666 112587666 + Nonsense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 112587666 112587666 A T SNP TRAFD1 ENST00000257604 human ensembl 74_37 +1 known nonsense c.1270 p.R424* 0.987 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 101 0 0 43 19 30.6452 NOS1 0 genome.wustl.edu 37 12 117710313 117710313 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 117710313 117710313 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.1716 p.V572 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 142 0 0 33 38 53.5211 NOS1 0 genome.wustl.edu 37 12 117715775 117715775 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 117715775 117715775 G T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.1653 p.I551 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 161 0 0 77 20 20.6186 GCN1L1 0 genome.wustl.edu 37 12 120599753 120599753 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 120599753 120599753 A G SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.2273 p.V758A 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 102 0 0 77 16 17.2043 RHNO1 0 genome.wustl.edu 37 12 2994694 2994694 + Silent SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 2994694 2994694 T G SNP RHNO1 ENST00000489288 human ensembl 74_37 +1 known silent c.162 p.T54 0.991 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 69 0 0 23 14 37.8378 LRRK2 0 genome.wustl.edu 37 12 40629471 40629471 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 40629471 40629471 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.391 p.L131 0.892 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 79 0 0 32 9 21.9512 LRRK2 0 genome.wustl.edu 37 12 40761458 40761458 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 40761458 40761458 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.7475 p.C2492F 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 40 0 0 16 10 38.4615 AKAP3 0 genome.wustl.edu 37 12 4737889 4737889 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 4737889 4737889 C T SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.179 p.R60Q 0.912 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 93 0 0 32 11 25.5814 KCNH3 0 genome.wustl.edu 37 12 49948186 49948186 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 49948186 49948186 T C SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1985 p.V662A 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 230 1 0.4329 134 12 8.21918 KRT86 0 genome.wustl.edu 37 12 52695751 52695751 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 52695751 52695751 C A SNP KRT86 ENST00000293525 human ensembl 74_37 +1 known silent c.51 p.A17 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 HGNC ENSG00000170442 187 0 0 127 9 6.61765 KRT6B 0 genome.wustl.edu 37 12 52844237 52844237 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 52844237 52844237 G A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known silent c.708 p.D236 0.498 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 300 0 0 161 61 27.4775 MFSD5 0 genome.wustl.edu 37 12 53647497 53647497 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 53647497 53647497 T C SNP MFSD5 ENST00000534842 human ensembl 74_37 +1 known missense c.1199 p.L400P 1.000 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 123 0 0 72 7 8.86076 ERBB3 0 genome.wustl.edu 37 12 56481648 56481648 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 56481648 56481648 A G SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.683 p.H228R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat 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 280 0 0 103 41 28.4722 TMEM5 0 genome.wustl.edu 37 12 64202655 64202655 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 64202655 64202655 C A SNP TMEM5 ENST00000261234 human ensembl 74_37 +1 known missense c.1115 p.P372H 1.000 NULL pfam_Exostosin - no_errors TMEM5 HGNC ENSG00000118600 161 0 0 94 29 23.5772 ZNF705A 0 genome.wustl.edu 37 12 8328533 8328533 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 8328533 8328533 A G SNP ZNF705A ENST00000359286 human ensembl 74_37 +1 known missense c.313 p.T105A 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705A HGNC ENSG00000196946 152 0 0 33 21 38.8889 TMTC2 0 genome.wustl.edu 37 12 83358805 83358805 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 12 83358805 83358805 G C SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known missense c.1601 p.G534A 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 94 0 0 33 13 28.2609 NALCN 0 genome.wustl.edu 37 13 101910814 101910814 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 13 101910814 101910814 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1246 p.D416N 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 56 0 0 31 10 24.3902 PCDH17 0 genome.wustl.edu 37 13 58209157 58209157 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 13 58209157 58209157 C A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2477 p.P826H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 64 0 0 23 10 30.303 PCDH20 0 genome.wustl.edu 37 13 61988055 61988055 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 13 61988055 61988055 G A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known silent c.177 p.L59 0.977 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 41 0 0 15 11 42.3077 EML1 0 genome.wustl.edu 37 14 100363543 100363543 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 100363543 100363543 G A SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.796 p.V266I 1.000 pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 97 0 0 11 54 83.0769 AHNAK2 0 genome.wustl.edu 37 14 105406981 105406981 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 105406981 105406981 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.14807 p.P4936L 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 87 0 0 42 6 12.5 ENSG00000257395 0 genome.wustl.edu 37 14 20151708 20151708 + RNA SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 20151708 20151708 A G SNP ENSG00000257395 ENST00000547175 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-597A11.2 Clone_based_vega_gene ENSG00000257395 54 0 0 9 2 18.1818 APEX1 0 genome.wustl.edu 37 14 20923813 20923813 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 20923813 20923813 G A SNP APEX1 ENST00000216714 human ensembl 74_37 +1 known silent c.9 p.K3 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX1 HGNC ENSG00000100823 100 0 0 32 10 23.8095 NYNRIN 0 genome.wustl.edu 37 14 24884516 24884516 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 24884516 24884516 C A SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known silent c.3561 p.A1187 0.993 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 171 0 0 56 15 21.1268 FOXG1 0 genome.wustl.edu 37 14 29237317 29237317 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 29237317 29237317 A G SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.832 p.T278A 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 80 0 0 16 54 77.1429 ARHGAP5 0 genome.wustl.edu 37 14 32561340 32561340 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 32561340 32561340 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1465 p.E489K 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 110 1 0.900901 51 4 7.27273 CTAGE5 0 genome.wustl.edu 37 14 39818141 39818141 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 39818141 39818141 A G SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known silent c.2223 p.P741 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 203 0 0 88 8 8.33333 RBM25 0 genome.wustl.edu 37 14 73572630 73572630 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 73572630 73572630 G A SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known silent c.1218 p.E406 0.996 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 66 0 0 20 3 13.0435 NRXN3 0 genome.wustl.edu 37 14 79270092 79270092 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 79270092 79270092 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2168 p.T723M 0.998 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 92 0 0 40 14 25.9259 UNC79 0 genome.wustl.edu 37 14 94152946 94152946 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 94152946 94152946 G T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.7031 p.R2344M 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 85 0 0 29 14 32.5581 LRRK1 0 genome.wustl.edu 37 15 101569258 101569258 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 101569258 101569258 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.2784 p.S928 0.846 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 140 1 0.70922 25 70 73.6842 BMF 0 genome.wustl.edu 37 15 40398015 40398015 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 40398015 40398015 T A SNP BMF ENST00000354670 human ensembl 74_37 -1 known missense c.273 p.E91D 0.992 NULL NULL - no_errors BMF HGNC ENSG00000104081 228 0 0 25 91 78.4483 USP3-AS1 0 genome.wustl.edu 37 15 63880451 63880451 + RNA SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 63880451 63880451 T C SNP USP3-AS1 ENST00000558831 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP3-AS1 HGNC ENSG00000259248 43 0 0 11 8 42.1053 CILP 0 genome.wustl.edu 37 15 65489691 65489691 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 65489691 65489691 C T SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.2933 p.R978Q 1.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 110 1 0.900901 32 15 31.9149 IGDCC3 0 genome.wustl.edu 37 15 65667684 65667684 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 65667684 65667684 C T SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.160 p.V54I 0.131 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 42 0 0 28 2 6.66667 MEGF11 0 genome.wustl.edu 37 15 66190400 66190400 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 66190400 66190400 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known missense c.3007 p.G1003S 0.000 NULL pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 66 0 0 24 10 29.4118 GOLGA6L5 0 genome.wustl.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 85053142 85053142 C T SNP GOLGA6L5 ENST00000414190 human ensembl 74_37 -1 known rna NULL NULL 0.129 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 29 0 0 20 6 23.0769 AKAP13 0 genome.wustl.edu 37 15 86225395 86225395 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 86225395 86225395 G A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.5120 p.R1707Q 0.948 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 68 0 0 20 18 47.3684 VPS33B 0 genome.wustl.edu 37 15 91543197 91543197 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 91543197 91543197 C A SNP VPS33B ENST00000333371 human ensembl 74_37 -1 known missense c.1590 p.E530D 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 208 0 0 124 42 25.3012 EME2 0 genome.wustl.edu 37 16 1825267 1825267 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 1825267 1825267 G A SNP EME2 ENST00000307394 human ensembl 74_37 +1 known missense c.653 p.G218D 0.021 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 129 0 0 79 5 5.95238 HS3ST6 0 genome.wustl.edu 37 16 1961699 1961699 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 1961699 1961699 C T SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known silent c.921 p.R307 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 60 0 0 54 17 23.9437 ZNF598 0 genome.wustl.edu 37 16 2052336 2052336 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 2052336 2052336 A C SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.766 p.F256V 1.000 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 191 0 0 102 31 23.3083 SCNN1G 0 genome.wustl.edu 37 16 23200994 23200994 + Splice_Site SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 23200994 23200994 T A SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known splice_site c.618+2 e2+2 1.000 - - - no_errors SCNN1G HGNC ENSG00000166828 274 0 0 155 10 6.06061 SCNN1G 0 genome.wustl.edu 37 16 23205501 23205501 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 23205501 23205501 G A SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known silent c.819 p.T273 0.042 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 111 0 0 51 15 22.7273 PRRT2 0 genome.wustl.edu 37 16 29824366 29824366 + RNA SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 29824366 29824366 C T SNP PRRT2 ENST00000567551 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors PRRT2 HGNC ENSG00000167371 120 0 0 38 15 28.3019 HERC2P4 0 genome.wustl.edu 37 16 32182809 32182809 + RNA SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 32182809 32182809 T G SNP HERC2P4 ENST00000564730 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 125 0 0 49 6 10.9091 CORO7-PAM16 0 genome.wustl.edu 37 16 4457673 4457673 + Nonsense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 4457673 4457673 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known nonsense c.316 p.R106* 1.000 smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 30 0 0 21 9 30 RAB11FIP3 0 genome.wustl.edu 37 16 539001 539001 + Splice_Site SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 539001 539001 G T SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known splice_site c.1265+1 e5+1 1.000 - - - no_errors RAB11FIP3 HGNC ENSG00000090565 73 0 0 32 15 31.9149 IRX6 0 genome.wustl.edu 37 16 55360314 55360314 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 55360314 55360314 G A SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.112 p.A38T 0.896 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 92 0 0 53 21 28.3784 SLC6A2 0 genome.wustl.edu 37 16 55725948 55725948 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 55725948 55725948 G A SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.902 p.R301H 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 132 0 0 46 51 52.5773 CDH11 0 genome.wustl.edu 37 16 65032498 65032498 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 65032498 65032498 A T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.490 p.Y164N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 194 0 0 127 9 6.61765 MSLNL 0 genome.wustl.edu 37 16 824912 824912 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 824912 824912 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.1660 p.R554W 0.950 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 63 0 0 31 6 16.2162 GSE1 0 genome.wustl.edu 37 16 85691162 85691162 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 85691162 85691162 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.1592 p.R531Q 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 30 0 0 13 7 35 ANKRD11 0 genome.wustl.edu 37 16 89350272 89350272 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 89350272 89350272 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.2678 p.R893Q 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 163 0 0 83 31 27.193 GAS8 0 genome.wustl.edu 37 16 90094048 90094048 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 90094048 90094048 C T SNP GAS8 ENST00000268699 human ensembl 74_37 +1 known missense c.8 p.P3L 1.000 NULL NULL - no_errors GAS8 HGNC ENSG00000141013 199 0 0 117 30 20.4082 GAS8 0 genome.wustl.edu 37 16 90106768 90106768 + Nonsense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 90106768 90106768 C T SNP GAS8 ENST00000268699 human ensembl 74_37 +1 known nonsense c.1072 p.Q358* 1.000 NULL NULL - no_errors GAS8 HGNC ENSG00000141013 19 0 0 14 4 22.2222 TUBB8P7 0 genome.wustl.edu 37 16 90160865 90160865 + RNA SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 90160865 90160865 C T SNP TUBB8P7 ENST00000564451 human ensembl 74_37 +1 known rna NULL NULL 0.161 - - - no_errors TUBB8P7 HGNC ENSG00000261812 29 0 0 18 11 37.931 LRRC37A11P 0 genome.wustl.edu 37 17 37186428 37186428 + RNA SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 37186428 37186428 C A SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC ENSG00000214553 160 1 0.621118 64 35 35.3535 NR1D1 0 genome.wustl.edu 37 17 38252140 38252140 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 38252140 38252140 A C SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.805 p.F269V 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 49 0 0 25 9 26.4706 KRT35 0 genome.wustl.edu 37 17 39633826 39633826 + Silent SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 39633826 39633826 G C SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known silent c.1164 p.A388 0.979 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 167 0 0 87 34 28.0992 KRT36 0 genome.wustl.edu 37 17 39643639 39643639 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 39643639 39643639 G A SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known silent c.951 p.N317 0.020 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 39 0 0 9 20 68.9655 JUP 0 genome.wustl.edu 37 17 39776787 39776787 + Splice_Site SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 39776787 39776787 C T SNP JUP ENST00000540235 human ensembl 74_37 -1 known splice_site c.1681+1 e10+1 0.999 - - - no_errors JUP HGNC ENSG00000173801 116 0 0 45 15 25 COASY 0 genome.wustl.edu 37 17 40714969 40714969 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 40714969 40714969 C T SNP COASY ENST00000590958 human ensembl 74_37 +1 known missense c.416 p.P139L 1.000 NULL pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 386 0 0 199 56 21.9608 COASY 0 genome.wustl.edu 37 17 40714970 40714970 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 40714970 40714970 G T SNP COASY ENST00000590958 human ensembl 74_37 +1 known silent c.417 p.P139 0.918 NULL pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 391 0 0 201 57 22.093 WNK4 0 genome.wustl.edu 37 17 40939912 40939912 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 40939912 40939912 C A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.1858 p.P620T 1.000 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 141 0 0 64 14 17.9487 WNK4 0 genome.wustl.edu 37 17 40946850 40946850 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 40946850 40946850 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.2411 p.S804L 0.805 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 169 0 0 70 22 23.913 PTGES3L-AARSD1 0 genome.wustl.edu 37 17 41116247 41116247 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 41116247 41116247 G C SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 74_37 -1 known missense c.569 p.T190S 1.000 pfam_Ala-tRNA-synth_IIc_N pfam_tRNA_SAD,pfam_CS_dom,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS_dom,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 115 0 0 51 13 20.3125 SPPL2C 0 genome.wustl.edu 37 17 43922821 43922821 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 43922821 43922821 C T SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known silent c.549 p.I183 0.017 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 157 0 0 69 23 25 MAPT 0 genome.wustl.edu 37 17 44101420 44101420 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 44101420 44101420 G A SNP MAPT ENST00000344290 human ensembl 74_37 +1 known silent c.2214 p.T738 0.874 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 240 0 0 132 33 20 CD79B 0 genome.wustl.edu 37 17 62007664 62007664 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 62007664 62007664 A G SNP CD79B ENST00000392795 human ensembl 74_37 -1 known missense c.203 p.M68T 0.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79B HGNC ENSG00000007312 85 0 0 51 4 7.27273 MAP2K6 0 genome.wustl.edu 37 17 67519770 67519770 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 67519770 67519770 A G SNP MAP2K6 ENST00000590474 human ensembl 74_37 +1 known silent c.651 p.K217 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 MAP2K6 HGNC ENSG00000108984 233 0 0 92 29 23.9669 AANAT 0 genome.wustl.edu 37 17 74464954 74464954 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 74464954 74464954 G T SNP AANAT ENST00000250615 human ensembl 74_37 +1 known silent c.261 p.P87 0.069 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors AANAT HGNC ENSG00000129673 97 0 0 50 7 12.2807 TBC1D16 0 genome.wustl.edu 37 17 77926603 77926603 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 77926603 77926603 G A SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.794 p.S265F 0.978 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 104 0 0 48 17 26.1538 DHRS7C 0 genome.wustl.edu 37 17 9674955 9674955 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 9674955 9674955 C T SNP DHRS7C ENST00000330255 human ensembl 74_37 -1 known missense c.789 p.M263I 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7C HGNC ENSG00000184544 28 0 0 3 14 82.3529 DCC 0 genome.wustl.edu 37 18 50994306 50994306 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 18 50994306 50994306 A G SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3662 p.E1221G 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 143 0 0 38 32 45.7143 ZNF443 0 genome.wustl.edu 37 19 12542781 12542781 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 12542781 12542781 C T SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known missense c.205 p.E69K 0.012 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 ZNF443 HGNC ENSG00000180855 38 0 0 9 5 35.7143 MKNK2 0 genome.wustl.edu 37 19 2046617 2046617 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 2046617 2046617 C T SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known missense c.125 p.C42Y 0.902 NULL 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 - no_errors MKNK2 HGNC ENSG00000099875 22 0 0 10 4 28.5714 ZNF729 0 genome.wustl.edu 37 19 22499221 22499221 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 22499221 22499221 T G SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.3002 p.F1001C 0.246 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 ZNF729 HGNC ENSG00000196350 73 0 0 17 7 29.1667 JSRP1 0 genome.wustl.edu 37 19 2252455 2252455 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 2252455 2252455 G A SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.869 p.P290L 0.012 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 71 0 0 29 2 6.45161 THOP1 0 genome.wustl.edu 37 19 2807486 2807486 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 2807486 2807486 G A SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known silent c.933 p.A311 0.052 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 48 0 0 17 11 39.2857 RYR1 0 genome.wustl.edu 37 19 39008073 39008073 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 39008073 39008073 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.9760 p.G3254R 0.977 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 127 0 0 15 47 75.8065 DLL3 0 genome.wustl.edu 37 19 39998199 39998199 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 39998199 39998199 C T SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known silent c.1614 p.H538 0.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 27 0 0 7 7 50 CCDC8 0 genome.wustl.edu 37 19 46915929 46915929 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 46915929 46915929 C T SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.139 p.E47K 0.922 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 161 0 0 35 29 45.3125 SIGLEC9 0 genome.wustl.edu 37 19 51631230 51631230 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 51631230 51631230 A G SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known missense c.1040 p.Q347R 0.001 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 280 0 0 145 12 7.64331 ZNF615 0 genome.wustl.edu 37 19 52496650 52496650 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 52496650 52496650 C T SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.1712 p.R571H 0.005 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 ZNF615 HGNC ENSG00000197619 172 0 0 70 22 23.913 ZNF71 0 genome.wustl.edu 37 19 57132800 57132800 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 57132800 57132800 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.145 p.R49W 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 40 0 0 34 3 8.10811 AURKC 0 genome.wustl.edu 37 19 57743527 57743527 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 57743527 57743527 G A SNP AURKC ENST00000302804 human ensembl 74_37 +1 known silent c.231 p.S77 0.963 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 AURKC HGNC ENSG00000105146 56 0 0 28 13 31.7073 MUC16 0 genome.wustl.edu 37 19 9084605 9084605 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 9084605 9084605 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7210 p.S2404T 0.023 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 90 0 0 30 2 6.25 ZNF560 0 genome.wustl.edu 37 19 9578389 9578389 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 9578389 9578389 C G SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.1234 p.A412P 0.026 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 ZNF560 HGNC ENSG00000198028 103 0 0 26 12 31.5789 GREB1 0 genome.wustl.edu 37 2 11770190 11770190 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 11770190 11770190 T C SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.4566 p.P1522 0.172 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 116 0 0 73 6 7.59494 NTSR2 0 genome.wustl.edu 37 2 11802131 11802131 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 11802131 11802131 C T SNP NTSR2 ENST00000306928 human ensembl 74_37 -1 known missense c.860 p.R287H 0.322 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 166 0 0 58 65 52.8455 CNTNAP5 0 genome.wustl.edu 37 2 125262120 125262120 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 125262120 125262120 T C SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.1311 p.A437 0.002 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 53 0 0 41 4 8.88889 TRIB2 0 genome.wustl.edu 37 2 12880542 12880542 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 12880542 12880542 C T SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known silent c.654 p.Y218 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 TRIB2 HGNC ENSG00000071575 94 0 0 58 20 25.641 UGGT1 0 genome.wustl.edu 37 2 128932357 128932357 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 128932357 128932357 A C SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.3464 p.Q1155P 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 174 0 0 69 20 22.4719 LRP1B 0 genome.wustl.edu 37 2 141027915 141027915 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 141027915 141027915 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13143 p.N4381K 0.997 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_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_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 80 0 0 42 7 14.2857 LRP1B 0 genome.wustl.edu 37 2 141356374 141356374 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 141356374 141356374 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7020 p.Q2340H 0.977 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_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_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 55 0 0 26 4 13.3333 GALNT13 0 genome.wustl.edu 37 2 155115555 155115555 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 155115555 155115555 C A SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known silent c.879 p.G293 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 96 0 0 41 14 25.4545 SCN3A 0 genome.wustl.edu 37 2 166010963 166010963 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 166010963 166010963 T C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.1379 p.Q460R 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 90 0 0 65 7 9.72222 SCN1A 0 genome.wustl.edu 37 2 166848165 166848165 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 166848165 166848165 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5620 p.R1874W 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 130 0 0 84 16 16 SCN9A 0 genome.wustl.edu 37 2 167089905 167089905 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 167089905 167089905 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.3872 p.R1291Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 31 0 0 13 10 43.4783 FASTKD1 0 genome.wustl.edu 37 2 170411638 170411638 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 170411638 170411638 G A SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known missense c.1210 p.L404F 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 50 0 0 25 4 13.7931 METAP1D 0 genome.wustl.edu 37 2 172945099 172945099 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 172945099 172945099 G A SNP METAP1D ENST00000315796 human ensembl 74_37 +1 known missense c.973 p.A325T 0.994 superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC ENSG00000172878 264 0 0 139 52 27.2251 AGPS 0 genome.wustl.edu 37 2 178386012 178386012 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 178386012 178386012 C T SNP AGPS ENST00000264167 human ensembl 74_37 +1 known silent c.1713 p.Y571 0.769 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 118 0 0 29 34 53.9683 TTN 0 genome.wustl.edu 37 2 179430415 179430415 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 179430415 179430415 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.72740 p.Y24247C 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 223 0 0 155 12 7.18563 ZNF385B 0 genome.wustl.edu 37 2 180634389 180634389 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 180634389 180634389 G T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.94 p.L32I 1.000 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 83 0 0 60 17 22.0779 NT5C1B 0 genome.wustl.edu 37 2 18757571 18757571 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 18757571 18757571 C T SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.1388 p.R463H 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 70 0 0 51 15 22.7273 APOB 0 genome.wustl.edu 37 2 21250815 21250815 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 21250815 21250815 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.1952 p.A651D 0.491 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 145 0 0 71 20 21.978 MARCH4 0 genome.wustl.edu 37 2 217234856 217234856 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 217234856 217234856 C T SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known missense c.128 p.R43H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 19 0 0 21 3 12.5 CCDC108 0 genome.wustl.edu 37 2 219894339 219894339 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 219894339 219894339 A C SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.1436 p.L479R 0.793 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 164 0 0 114 6 5 EPHA4 0 genome.wustl.edu 37 2 222301249 222301249 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 222301249 222301249 T A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.2216 p.D739V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_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 152 0 0 54 27 33.3333 COL4A3 0 genome.wustl.edu 37 2 228173944 228173944 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 228173944 228173944 G A SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known silent c.4665 p.A1555 0.514 superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 64 0 0 33 9 21.4286 SPHKAP 0 genome.wustl.edu 37 2 228860405 228860405 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 228860405 228860405 C G SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.4454 p.S1485T 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 46 0 0 30 14 31.8182 SP110 0 genome.wustl.edu 37 2 231077646 231077646 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 231077646 231077646 G A SNP SP110 ENST00000258381 human ensembl 74_37 -1 known missense c.413 p.A138V 0.000 NULL pfam_Sp100,pfam_SAND_dom,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 - no_errors SP110 HGNC ENSG00000135899 205 0 0 98 57 36.7742 SIX3 0 genome.wustl.edu 37 2 45171770 45171770 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 45171770 45171770 G A SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known silent c.870 p.T290 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 18 0 0 11 8 42.1053 ALMS1 0 genome.wustl.edu 37 2 73677634 73677634 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 73677634 73677634 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.3977 p.P1326L 0.001 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 287 1 0.347222 146 53 26.6332 SNRNP200 0 genome.wustl.edu 37 2 96953698 96953698 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 96953698 96953698 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.3268 p.R1090W 0.997 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 115 1 0.862069 65 17 20.7317 ISM1 0 genome.wustl.edu 37 20 13279607 13279607 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 13279607 13279607 G A SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.896 p.R299H 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 43 0 0 24 7 22.5806 KIF3B 0 genome.wustl.edu 37 20 30919058 30919058 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 30919058 30919058 C T SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.2180 p.S727F 0.993 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 104 0 0 79 14 15.0538 SLC4A11 0 genome.wustl.edu 37 20 3209965 3209965 + RNA SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 3209965 3209965 G A SNP SLC4A11 ENST00000488544 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SLC4A11 HGNC ENSG00000088836 116 0 0 71 25 26.0417 GGT7 0 genome.wustl.edu 37 20 33437810 33437810 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 33437810 33437810 G A SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel silent c.1779 p.R593 0.010 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 59 0 0 55 9 14.0625 SOGA1 0 genome.wustl.edu 37 20 35467810 35467810 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 35467810 35467810 T C SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.722 p.E241G 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 77 0 0 100 27 21.2598 SIGLEC1 0 genome.wustl.edu 37 20 3670819 3670819 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 3670819 3670819 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.4684 p.A1562T 0.603 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,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 21 0 0 5 8 61.5385 SLC32A1 0 genome.wustl.edu 37 20 37356767 37356767 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 37356767 37356767 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1063 p.A355T 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 103 0 0 89 36 28.8 MMP9 0 genome.wustl.edu 37 20 44640827 44640827 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 44640827 44640827 C A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1049 p.P350H 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 234 0 0 163 42 20.4878 ZNFX1 0 genome.wustl.edu 37 20 47866105 47866105 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 47866105 47866105 G A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known silent c.3456 p.S1152 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 173 0 0 140 22 13.5802 PPP1R3D 0 genome.wustl.edu 37 20 58514447 58514447 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 58514447 58514447 C T SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known silent c.540 p.E180 1.000 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 45 0 0 28 6 17.6471 LRRN4 0 genome.wustl.edu 37 20 6033406 6033406 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 6033406 6033406 G A SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.40 p.R14C 0.017 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 11 0 0 16 3 15.7895 NTSR1 0 genome.wustl.edu 37 20 61341129 61341129 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 20 61341129 61341129 C T SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known silent c.570 p.S190 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 134 0 0 75 21 21.875 NCAM2 0 genome.wustl.edu 37 21 22782720 22782720 + Nonsense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 21 22782720 22782720 T A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known nonsense c.1322 p.L441* 0.979 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_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 99 0 0 32 11 25.5814 SEC14L3 0 genome.wustl.edu 37 22 30857304 30857304 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 22 30857304 30857304 G A SNP SEC14L3 ENST00000215812 human ensembl 74_37 -1 known silent c.1074 p.A358 0.387 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 196 0 0 48 25 34.2466 TST 0 genome.wustl.edu 37 22 37407215 37407215 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 22 37407215 37407215 G A SNP TST ENST00000249042 human ensembl 74_37 -1 known silent c.747 p.R249 0.972 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 75 0 0 22 11 33.3333 TMPRSS6 0 genome.wustl.edu 37 22 37499393 37499393 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 22 37499393 37499393 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.65 p.A22V 0.997 pirsf_Pept_S1A_matriptase-2 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 306 0 0 81 52 39.0977 ELFN2 0 genome.wustl.edu 37 22 37769679 37769679 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 22 37769679 37769679 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known silent c.1896 p.S632 0.068 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 30 0 0 9 6 40 ZBED4 0 genome.wustl.edu 37 22 50280130 50280130 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 22 50280130 50280130 C T SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known silent c.2820 p.F940 0.068 superfamily_RNaseH-like_dom 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 85 0 0 64 21 24.7059 MLC1 0 genome.wustl.edu 37 22 50506890 50506890 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 22 50506890 50506890 A T SNP MLC1 ENST00000311597 human ensembl 74_37 -1 known missense c.866 p.M289K 0.774 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 202 0 0 97 34 25.9542 TUBGCP6 0 genome.wustl.edu 37 22 50659598 50659598 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 22 50659598 50659598 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.3190 p.G1064R 0.977 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 331 0 0 154 45 22.6131 DPPA4 0 genome.wustl.edu 37 3 109046852 109046852 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 109046852 109046852 T G SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.898 p.S300R 0.904 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 402 0 0 173 42 19.5349 PHLDB2 0 genome.wustl.edu 37 3 111603429 111603429 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 111603429 111603429 G C SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.505 p.G169R 0.721 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 107 0 0 99 13 11.6071 MYLK 0 genome.wustl.edu 37 3 123375981 123375981 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 123375981 123375981 T G SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.4280 p.K1427T 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 112 0 0 80 27 25.2336 ALDH1L1 0 genome.wustl.edu 37 3 125877314 125877314 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 125877314 125877314 C T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.296 p.R99Q 0.003 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 26 0 0 26 7 21.2121 ZIC1 0 genome.wustl.edu 37 3 147127956 147127956 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 147127956 147127956 G A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known silent c.57 p.A19 0.989 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 82 0 0 69 8 10.3896 IFT80 0 genome.wustl.edu 37 3 159995162 159995162 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 159995162 159995162 T C SNP IFT80 ENST00000483754 human ensembl 74_37 -1 known missense c.2544 p.I848M 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 113 0 0 75 23 23.4694 CLDN11 0 genome.wustl.edu 37 3 170150556 170150556 + RNA SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 170150556 170150556 G A SNP CLDN11 ENST00000477531 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLDN11 HGNC ENSG00000013297 77 0 0 68 22 24.4444 USP13 0 genome.wustl.edu 37 3 179462842 179462842 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 179462842 179462842 G A SNP USP13 ENST00000263966 human ensembl 74_37 +1 known missense c.1546 p.A516T 0.999 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 72 0 0 22 47 68.1159 TP63 0 genome.wustl.edu 37 3 189584565 189584565 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 189584565 189584565 G A SNP TP63 ENST00000264731 human ensembl 74_37 +1 known silent c.861 p.L287 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 85 0 0 57 29 33.7209 FGF12 0 genome.wustl.edu 37 3 191888291 191888291 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 191888291 191888291 T C SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known missense c.569 p.K190R 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 228 0 0 196 48 19.6721 CISH 0 genome.wustl.edu 37 3 50645297 50645297 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 50645297 50645297 C T SNP CISH ENST00000443053 human ensembl 74_37 -1 known missense c.569 p.S190N 0.032 pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors CISH HGNC ENSG00000114737 92 0 0 10 9 47.3684 PRICKLE2 0 genome.wustl.edu 37 3 64139012 64139012 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 64139012 64139012 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known silent c.633 p.E211 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 168 0 0 45 22 32.8358 ROBO2 0 genome.wustl.edu 37 3 77542474 77542474 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 77542474 77542474 A G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.747 p.Q249 0.986 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_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 92 0 0 37 11 22.9167 FAT4 0 genome.wustl.edu 37 4 126336957 126336957 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 126336957 126336957 T A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.6839 p.L2280H 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 42 0 0 24 12 33.3333 LRAT 0 genome.wustl.edu 37 4 155665763 155665763 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 155665763 155665763 G C SNP LRAT ENST00000336356 human ensembl 74_37 +1 known missense c.285 p.K95N 0.999 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 63 0 0 16 10 38.4615 CPE 0 genome.wustl.edu 37 4 166385547 166385547 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 166385547 166385547 C T SNP CPE ENST00000402744 human ensembl 74_37 +1 known missense c.313 p.P105S 1.000 pfam_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC ENSG00000109472 50 0 0 14 7 33.3333 HAND2 0 genome.wustl.edu 37 4 174450016 174450016 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 174450016 174450016 C T SNP HAND2 ENST00000359562 human ensembl 74_37 -1 known missense c.425 p.R142H 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 HAND2 HGNC ENSG00000164107 199 0 0 71 45 38.7931 RGS12 0 genome.wustl.edu 37 4 3319253 3319253 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 3319253 3319253 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known silent c.1356 p.P452 0.001 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 125 0 0 65 23 26.1364 PDS5A 0 genome.wustl.edu 37 4 39910138 39910138 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 39910138 39910138 A G SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known silent c.1110 p.H370 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 122 0 0 57 8 12.3077 ANKRD17 0 genome.wustl.edu 37 4 73984530 73984530 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 73984530 73984530 T C SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.4063 p.T1355A 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_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 215 0 0 110 10 8.33333 SEC31A 0 genome.wustl.edu 37 4 83784523 83784523 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 83784523 83784523 C T SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known missense c.1457 p.R486H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 98 0 0 23 12 34.2857 EPB41L4A 0 genome.wustl.edu 37 5 111504783 111504783 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 111504783 111504783 G A SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.1759 p.R587C 1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 107 0 0 49 20 28.9855 SEMA6A 0 genome.wustl.edu 37 5 115783307 115783307 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 115783307 115783307 T C SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2146 p.M716V 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 143 0 0 87 39 30.9524 SLC12A2 0 genome.wustl.edu 37 5 127522312 127522312 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 127522312 127522312 T G SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known missense c.3628 p.F1210V 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 95 0 0 43 19 30.6452 MIR1289-2 0 genome.wustl.edu 37 5 132763301 132763301 + RNA SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 132763301 132763301 G T SNP MIR1289-2 ENST00000408360 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1289-2 HGNC ENSG00000221287 51 0 0 18 10 35.7143 VDAC1 0 genome.wustl.edu 37 5 133309533 133309533 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 133309533 133309533 C T SNP VDAC1 ENST00000265333 human ensembl 74_37 -1 known missense c.709 p.V237M 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 181 0 0 48 21 30.4348 FAM13B 0 genome.wustl.edu 37 5 137278591 137278591 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 137278591 137278591 C T SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.2495 p.R832Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 95 0 0 20 26 56.5217 PCDHA3 0 genome.wustl.edu 37 5 140183159 140183159 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 140183159 140183159 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.2377 p.V793I 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 97 0 0 31 38 55.0725 PCDHA12 0 genome.wustl.edu 37 5 140256490 140256490 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 140256490 140256490 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1433 p.S478L 0.054 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 PCDHA12 HGNC ENSG00000251664 213 1 0.46729 117 109 48.2301 PCDHB11 0 genome.wustl.edu 37 5 140581715 140581715 + Nonsense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 140581715 140581715 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known nonsense c.2368 p.R790* 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 69 0 0 34 4 10.5263 PCDHGA11 0 genome.wustl.edu 37 5 140802438 140802438 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 140802438 140802438 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.1644 p.S548 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 482 1 0.207039 270 86 24.1573 PCDHGA12 0 genome.wustl.edu 37 5 140812049 140812049 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 140812049 140812049 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1723 p.V575M 0.263 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 375 0 0 322 19 5.57185 LPCAT1 0 genome.wustl.edu 37 5 1466949 1466949 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 1466949 1466949 G A SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known silent c.1335 p.L445 0.999 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 147 0 0 23 53 69.7368 TBC1D9B 0 genome.wustl.edu 37 5 179297278 179297278 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 179297278 179297278 A T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.2702 p.F901Y 1.000 pfscan_EF_hand_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 266 0 0 86 80 48.1928 SDHA 0 genome.wustl.edu 37 5 228322 228322 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 228322 228322 A G SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.644 p.Y215C 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 86 0 0 31 4 11.4286 IRX2 0 genome.wustl.edu 37 5 2748955 2748955 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 2748955 2748955 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.867 p.T289 0.872 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 21 0 0 5 16 76.1905 HMGCS1 0 genome.wustl.edu 37 5 43298855 43298855 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 43298855 43298855 A G SNP HMGCS1 ENST00000325110 human ensembl 74_37 -1 known silent c.213 p.T71 1.000 pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS1 HGNC ENSG00000112972 186 0 0 100 33 24.812 CMYA5 0 genome.wustl.edu 37 5 79025857 79025857 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 79025857 79025857 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.1269 p.K423N 0.001 NULL 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 107 0 0 35 18 33.9623 GPR98 0 genome.wustl.edu 37 5 90281299 90281299 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 90281299 90281299 C A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.18112 p.Q6038K 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 54 0 0 36 3 7.69231 STL 0 genome.wustl.edu 37 6 125233331 125233331 + RNA SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 125233331 125233331 C T SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 36 0 0 14 7 33.3333 LAMA2 0 genome.wustl.edu 37 6 129513974 129513974 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 129513974 129513974 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.1758 p.A586 0.002 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC ENSG00000196569 46 0 0 28 16 36.3636 EPB41L2 0 genome.wustl.edu 37 6 131190857 131190857 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 131190857 131190857 A G SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.2453 p.V818A 0.037 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 316 1 0.315457 212 80 27.3973 EYA4 0 genome.wustl.edu 37 6 133846173 133846173 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 133846173 133846173 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.1759 p.R587C 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 150 0 0 71 19 21.1111 TBPL1 0 genome.wustl.edu 37 6 134308119 134308119 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 134308119 134308119 G T SNP TBPL1 ENST00000237264 human ensembl 74_37 +1 known missense c.502 p.A168S 1.000 pfam_TBP pfam_TBP,prints_TBP - no_errors TBPL1 HGNC ENSG00000028839 51 0 0 31 2 6.06061 SYNE1 0 genome.wustl.edu 37 6 152671429 152671429 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 152671429 152671429 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11775 p.E3925D 0.998 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 122 0 0 62 18 22.5 MYCT1 0 genome.wustl.edu 37 6 153019200 153019200 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 153019200 153019200 A C SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.163 p.S55R 0.998 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 43 0 0 18 5 21.7391 DLL1 0 genome.wustl.edu 37 6 170597377 170597377 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 170597377 170597377 C T SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.620 p.R207H 0.995 pfam_DSL,smart_DSL,pfscan_DSL 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 91 0 0 34 15 30.6122 SCGN 0 genome.wustl.edu 37 6 25665223 25665223 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 25665223 25665223 G A SNP SCGN ENST00000377961 human ensembl 74_37 +1 known missense c.299 p.R100Q 0.615 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SCGN HGNC ENSG00000079689 85 0 0 72 16 18.1818 HIST1H2BF 0 genome.wustl.edu 37 6 26199793 26199793 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 26199793 26199793 G A SNP HIST1H2BF ENST00000359985 human ensembl 74_37 +1 known missense c.7 p.E3K 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BF HGNC ENSG00000197846 154 0 0 79 18 18.5567 BTN2A2 0 genome.wustl.edu 37 6 26392925 26392925 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 26392925 26392925 G T SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known missense c.1302 p.E434D 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 105 0 0 53 9 14.5161 GABBR1 0 genome.wustl.edu 37 6 29591187 29591187 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 29591187 29591187 C T SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known silent c.858 p.T286 0.972 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 86 0 0 52 15 22.3881 GTF2H4 0 genome.wustl.edu 37 6 30878477 30878477 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 30878477 30878477 G T SNP GTF2H4 ENST00000259895 human ensembl 74_37 +1 known missense c.410 p.G137V 1.000 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 - no_errors GTF2H4 HGNC ENSG00000213780 76 0 0 23 19 45.2381 VARS2 0 genome.wustl.edu 37 6 30886684 30886684 + Nonsense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 30886684 30886684 C T SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known nonsense c.1156 p.R386* 0.931 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 91 0 0 56 13 18.8406 GRM4 0 genome.wustl.edu 37 6 34101106 34101106 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 34101106 34101106 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.168 p.P56 0.000 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 89 0 0 52 12 18.75 MAPK13 0 genome.wustl.edu 37 6 36104269 36104269 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 36104269 36104269 G A SNP MAPK13 ENST00000211287 human ensembl 74_37 +1 known silent c.456 p.K152 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,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK13 HGNC ENSG00000156711 51 0 0 32 11 25.5814 TREML3P 0 genome.wustl.edu 37 6 41185583 41185583 + RNA SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 41185583 41185583 C A SNP TREML3P ENST00000564680 human ensembl 74_37 -1 known rna NULL NULL 0.228 - - - no_errors TREML3P HGNC ENSG00000184106 65 0 0 46 6 11.5385 ZNF318 0 genome.wustl.edu 37 6 43322584 43322584 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 43322584 43322584 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.2488 p.R830C 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 147 0 0 57 18 24 PHIP 0 genome.wustl.edu 37 6 79711671 79711671 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 79711671 79711671 G A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.1824 p.G608 0.994 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 74 0 0 32 13 28.8889 TBX18 0 genome.wustl.edu 37 6 85446530 85446530 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 85446530 85446530 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1697 p.R566Q 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 114 0 0 50 28 35.8974 HTR1E 0 genome.wustl.edu 37 6 87725488 87725488 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 87725488 87725488 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.436 p.V146I 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 161 0 0 43 48 52.7473 NYAP1 0 genome.wustl.edu 37 7 100086295 100086295 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 100086295 100086295 G C SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known missense c.951 p.K317N 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 230 0 0 98 29 22.8346 CUX1 0 genome.wustl.edu 37 7 101844897 101844897 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 101844897 101844897 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.2353 p.G785S 0.001 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 312 0 0 169 57 25.2212 ATP6V0A4 0 genome.wustl.edu 37 7 138453530 138453530 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 138453530 138453530 G T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.286 p.L96M 0.997 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 52 0 0 29 12 29.2683 OR2F1 0 genome.wustl.edu 37 7 143657472 143657472 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 143657472 143657472 C T SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known missense c.409 p.H137Y 0.972 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 OR2F1 HGNC ENSG00000213215 121 0 0 48 20 29.4118 ZNF398 0 genome.wustl.edu 37 7 148851197 148851197 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 148851197 148851197 G A SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known missense c.200 p.R67Q 1.000 pfam_DUF3669_Znf 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 123 0 0 37 46 55.4217 SSPO 0 genome.wustl.edu 37 7 149486358 149486358 + RNA SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 149486358 149486358 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SSPO HGNC ENSG00000197558 68 0 0 41 13 24.0741 RARRES2 0 genome.wustl.edu 37 7 150036113 150036113 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 150036113 150036113 G A SNP RARRES2 ENST00000223271 human ensembl 74_37 -1 known missense c.337 p.R113W 0.997 NULL NULL - no_errors RARRES2 HGNC ENSG00000106538 237 0 0 96 38 28.3582 AGMO 0 genome.wustl.edu 37 7 15405188 15405188 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 15405188 15405188 C T SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.1214 p.R405Q 0.002 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 85 0 0 21 10 32.2581 ABCB5 0 genome.wustl.edu 37 7 20793081 20793081 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 20793081 20793081 T G SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.2193 p.I731M 0.998 pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 107 0 0 26 17 39.5349 NUPL2 0 genome.wustl.edu 37 7 23239922 23239922 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 23239922 23239922 C T SNP NUPL2 ENST00000258742 human ensembl 74_37 +1 known missense c.830 p.T277I 0.175 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 15 0 0 4 2 33.3333 LANCL2 0 genome.wustl.edu 37 7 55493072 55493072 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 55493072 55493072 G T SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known silent c.1134 p.L378 0.998 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 154 0 0 68 29 29.8969 ZNF727 0 genome.wustl.edu 37 7 63538038 63538038 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 63538038 63538038 A G SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.611 p.E204G 0.048 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 ZNF727 HGNC ENSG00000257482 13 0 0 6 4 40 ZNF679 0 genome.wustl.edu 37 7 63726408 63726408 + Nonsense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 63726408 63726408 G T SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known nonsense c.397 p.E133* 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 ZNF679 HGNC ENSG00000197123 53 0 0 31 11 26.1905 AUTS2 0 genome.wustl.edu 37 7 70254894 70254894 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 70254894 70254894 T C SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.2692 p.S898P 0.991 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 79 0 0 49 12 19.6721 ABCB4 0 genome.wustl.edu 37 7 87069090 87069090 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 87069090 87069090 C T SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.1624 p.A542T 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 142 0 0 66 20 23.2558 AZGP1 0 genome.wustl.edu 37 7 99565777 99565777 + Splice_Site SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 99565777 99565777 C T SNP AZGP1 ENST00000292401 human ensembl 74_37 -1 known splice_site c.613+1 e3+1 1.000 - - - no_errors AZGP1 HGNC ENSG00000160862 117 0 0 492 388 44.0909 DLC1 0 genome.wustl.edu 37 8 12990529 12990529 + RNA SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 12990529 12990529 C T SNP DLC1 ENST00000515225 human ensembl 74_37 -1 known rna NULL NULL 0.908 - - - no_errors DLC1 HGNC ENSG00000164741 14 0 0 10 6 37.5 WISP1 0 genome.wustl.edu 37 8 134232990 134232990 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 134232990 134232990 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known silent c.516 p.R172 0.001 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,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 WISP1 HGNC ENSG00000104415 98 0 0 107 15 12.2951 ARC 0 genome.wustl.edu 37 8 143694717 143694717 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 143694717 143694717 G A SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.916 p.R306W 1.000 prints_Activity-reg_cytoskelet-assoc prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 79 0 0 31 68 68.6869 CYP11B1 0 genome.wustl.edu 37 8 143958607 143958607 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 143958607 143958607 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.427 p.R143W 0.046 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_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 39 0 0 28 24 46.1538 CYP11B2 0 genome.wustl.edu 37 8 143999227 143999227 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 143999227 143999227 G A SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.30 p.C10 0.001 NULL 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 253 0 0 183 92 33.4545 CSMD1 0 genome.wustl.edu 37 8 2964055 2964055 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 2964055 2964055 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6947 p.C2316Y 1.000 pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,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 CSMD1 HGNC ENSG00000183117 43 0 0 11 4 26.6667 DCTN6 0 genome.wustl.edu 37 8 30038094 30038094 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 30038094 30038094 C T SNP DCTN6 ENST00000221114 human ensembl 74_37 +1 known missense c.422 p.T141M 0.991 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN6 HGNC ENSG00000104671 73 0 0 57 6 9.52381 CSMD1 0 genome.wustl.edu 37 8 3087592 3087592 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 3087592 3087592 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4318 p.F1440V 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 CSMD1 HGNC ENSG00000183117 89 0 0 10 14 58.3333 TTI2 0 genome.wustl.edu 37 8 33369638 33369638 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 33369638 33369638 G T SNP TTI2 ENST00000360742 human ensembl 74_37 -1 known missense c.494 p.T165N 0.808 pfam_DUF2454 pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 259 0 0 120 12 9.09091 PENK 0 genome.wustl.edu 37 8 57358261 57358261 + Silent SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 57358261 57358261 C G SNP PENK ENST00000518770 human ensembl 74_37 -1 putative silent c.252 p.R84 0.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 28 0 0 18 6 25 CYP7A1 0 genome.wustl.edu 37 8 59410926 59410926 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 59410926 59410926 C A SNP CYP7A1 ENST00000301645 human ensembl 74_37 -1 known missense c.183 p.R61S 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 193 0 0 81 10 10.989 CSPP1 0 genome.wustl.edu 37 8 67988734 67988734 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 67988734 67988734 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known silent c.225 p.K75 0.999 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 87 0 0 40 11 21.5686 JPH1 0 genome.wustl.edu 37 8 75157411 75157411 + Splice_Site SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 8 75157411 75157411 C T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known splice_site c.1259-1 e4-1 1.000 - - - no_errors JPH1 HGNC ENSG00000104369 78 0 0 48 11 18.6441 SPTAN1 0 genome.wustl.edu 37 9 131329031 131329031 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 9 131329031 131329031 T C SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.12 p.S4 0.934 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 160 0 0 61 50 45.045 DOLK 0 genome.wustl.edu 37 9 131708026 131708026 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 9 131708026 131708026 G A SNP DOLK ENST00000372586 human ensembl 74_37 -1 known silent c.1557 p.Y519 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 167 0 0 71 5 6.57895 BAG1 0 genome.wustl.edu 37 9 33264406 33264406 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 9 33264406 33264406 G A SNP BAG1 ENST00000472232 human ensembl 74_37 -1 known silent c.267 p.S89 0.047 NULL pfam_BAG_domain,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_Ubiquitin_supergroup - no_errors BAG1 HGNC ENSG00000107262 121 0 0 45 13 22.4138 BAG1 0 genome.wustl.edu 37 9 33264410 33264410 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 9 33264410 33264410 C A SNP BAG1 ENST00000472232 human ensembl 74_37 -1 known missense c.263 p.R88L 0.004 NULL pfam_BAG_domain,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_Ubiquitin_supergroup - no_errors BAG1 HGNC ENSG00000107262 117 0 0 46 13 22.0339 PTPRD 0 genome.wustl.edu 37 9 8518099 8518099 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 9 8518099 8518099 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1292 p.S431L 0.983 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 199 0 0 32 26 44.8276 SPTLC1 0 genome.wustl.edu 37 9 94808310 94808310 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 9 94808310 94808310 C G SNP SPTLC1 ENST00000262554 human ensembl 74_37 -1 known missense c.1107 p.K369N 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC1 HGNC ENSG00000090054 51 0 0 11 21 65.625 RNA28S5 0 genome.wustl.edu 37 GL000220.1 118253 118253 + RNA SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 GL000220.1 118253 118253 C T SNP RNA28S5 ENST00000582153 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors RNA28S5 HGNC ENSG00000266658 13 0 0 166 44 20.9524 GUCY2F 0 genome.wustl.edu 37 X 108631760 108631760 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 108631760 108631760 T A SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.2914 p.M972L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 259 0 0 71 10 12.3457 ACSL4 0 genome.wustl.edu 37 X 108911351 108911351 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 108911351 108911351 C T SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known missense c.1417 p.G473S 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 195 0 0 32 36 52.9412 GLUD2 0 genome.wustl.edu 37 X 120181760 120181760 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 120181760 120181760 C T SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known silent c.222 p.F74 0.998 NULL pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 180 0 0 38 49 56.3218 ARHGAP36 0 genome.wustl.edu 37 X 130222707 130222707 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 130222707 130222707 G A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.1592 p.R531H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 75 0 0 29 21 42 ZNF75D 0 genome.wustl.edu 37 X 134426208 134426208 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 134426208 134426208 T A SNP ZNF75D ENST00000370766 human ensembl 74_37 -1 known missense c.603 p.R201S 0.843 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZNF75D HGNC ENSG00000186376 123 0 0 51 14 21.5385 CSF2RA 0 genome.wustl.edu 37 X 1407666 1407666 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 1407666 1407666 G A SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.358 p.A120T 0.001 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 480 0 0 46 119 72.1212 MAGEC2 0 genome.wustl.edu 37 X 141291507 141291507 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 141291507 141291507 C T SNP MAGEC2 ENST00000247452 human ensembl 74_37 -1 known silent c.267 p.Q89 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 82 0 0 39 19 32.7586 SH3KBP1 0 genome.wustl.edu 37 X 19705799 19705799 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 19705799 19705799 G T SNP SH3KBP1 ENST00000379697 human ensembl 74_37 -1 known silent c.588 p.T196 1.000 superfamily_SH3_domain 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 223 0 0 84 36 30 MAGEB3 0 genome.wustl.edu 37 X 30254145 30254145 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 30254145 30254145 A T SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known missense c.104 p.K35M 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 77 0 0 60 16 21.0526 FAM47C 0 genome.wustl.edu 37 X 37028749 37028749 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 37028749 37028749 G C SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2266 p.E756Q 0.010 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 180 0 0 55 44 44.4444 SSX5 0 genome.wustl.edu 37 X 48054788 48054788 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 48054788 48054788 C T SNP SSX5 ENST00000311798 human ensembl 74_37 -1 known missense c.7 p.G3R 0.002 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 516 0 0 208 60 22.3881 CACNA1F 0 genome.wustl.edu 37 X 49076976 49076976 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 49076976 49076976 C A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.2375 p.G792V 0.159 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 55 0 0 21 9 30 ZC3H12B 0 genome.wustl.edu 37 X 64722868 64722868 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 64722868 64722868 G A SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.2290 p.V764M 0.993 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 164 0 0 15 22 59.4595 OPHN1 0 genome.wustl.edu 37 X 67339099 67339099 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 67339099 67339099 A T SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.1352 p.F451Y 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 79 0 0 6 10 62.5 DACH2 0 genome.wustl.edu 37 X 86069814 86069814 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 X 86069814 86069814 A G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.1661 p.D554G 0.999 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 49 0 0 8 5 38.4615 NUP210L 0 genome.wustl.edu 37 1 153965404 153965404 + Frame_Shift_Del DEL A A - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 153965404 153965404 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.5574 p.F1858fs 0.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 295 0 0 127 9 6.61765 CDC73 0 genome.wustl.edu 37 1 193111146 193111147 + Frame_Shift_Del DEL AG AG - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 193111146 193111147 AG - DEL CDC73 ENST00000367435 human ensembl 74_37 +1 known frame_shift_del c.679_680 p.R229fs 1.000:1.000 NULL pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 111 0 0 39 7 15.2174 L1TD1 0 genome.wustl.edu 37 1 62672631 62672632 + Frame_Shift_Ins INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 1 62672631 62672632 - A INS L1TD1 ENST00000498273 human ensembl 74_37 +1 known frame_shift_ins c.331_332 p.T113fs 0.000:0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 211 0 0 70 6 7.89474 NMT2 0 genome.wustl.edu 37 10 15183210 15183211 + RNA DEL CA CA - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 15183210 15183211 CA - DEL NMT2 ENST00000478580 human ensembl 74_37 -1 known rna NULL NULL 0.021:0.025 - - - no_errors NMT2 HGNC ENSG00000152465 10 0 0 4 2 33.3333 KIAA1217 0 genome.wustl.edu 37 10 24832909 24832910 + Frame_Shift_Ins INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 10 24832909 24832910 - A INS KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_ins c.4710_4711 p.F1572fs 1.000:1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 274 0 0 94 31 24.8 NRXN3 0 genome.wustl.edu 37 14 79432746 79432747 + Frame_Shift_Ins INS - - G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 14 79432746 79432747 - G INS NRXN3 ENST00000554738 human ensembl 74_37 +1 known frame_shift_ins c.2741_2742 p.Y916fs 1.000:1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 209 0 0 76 29 27.619 VPS39 0 genome.wustl.edu 37 15 42500278 42500278 + Splice_Site DEL C C - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 15 42500278 42500278 C - DEL VPS39 ENST00000348544 human ensembl 74_37 -1 known splice_site_del c.73+1 e1+1 1.000 - - - no_errors VPS39 HGNC ENSG00000166887 13 0 0 10 2 16.6667 NLRC3 0 genome.wustl.edu 37 16 3598734 3598736 + In_Frame_Del DEL GGA GGA - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 16 3598734 3598736 GGA - DEL NLRC3 ENST00000448023 human ensembl 74_37 -1 known in_frame_del c.2761_2759 p.L920in_frame_del 0.994:0.998:1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 28 0 0 14 6 30 WSCD1 0 genome.wustl.edu 37 17 5984072 5984074 + In_Frame_Del DEL CTG CTG - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 5984072 5984074 CTG - DEL WSCD1 ENST00000317744 human ensembl 74_37 +1 known in_frame_del c.94_96 p.L35in_frame_del 0.998:1.000:0.998 NULL pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 62 0 0 19 2 9.52381 ALOX12 0 genome.wustl.edu 37 17 6905132 6905133 + Splice_Site INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 17 6905132 6905133 - A INS ALOX12 ENST00000251535 human ensembl 74_37 +1 known splice_site_ins c.1161+2_1161+1 e8+2 0.999:0.937 - - - no_errors ALOX12 HGNC ENSG00000108839 134 0 0 37 24 39.3443 ZNF471 0 genome.wustl.edu 37 19 57035985 57035986 + Frame_Shift_Ins INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 19 57035985 57035986 - A INS ZNF471 ENST00000308031 human ensembl 74_37 +1 known frame_shift_ins c.549_550 p.S185fs 0.532:0.742 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 ZNF471 HGNC ENSG00000196263 73 0 0 20 6 23.0769 ENSG00000271141 0 genome.wustl.edu 37 2 179481361 179481361 + RNA DEL A A - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 179481361 179481361 A - DEL ENSG00000271141 ENST00000605334 human ensembl 74_37 +1 known rna NULL NULL 0.925 - - - no_errors RP11-171I2.4 Clone_based_vega_gene ENSG00000271141 88 0 0 41 6 12.766 TRIP12 0 genome.wustl.edu 37 2 230652221 230652221 + Frame_Shift_Del DEL T T - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 230652221 230652221 T - DEL TRIP12 ENST00000283943 human ensembl 74_37 -1 known frame_shift_del c.4770 p.K1590fs 1.000 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 140 0 0 50 18 26.4706 SLC4A5 0 genome.wustl.edu 37 2 74452025 74452025 + Frame_Shift_Del DEL T T - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 2 74452025 74452025 T - DEL SLC4A5 ENST00000357822 human ensembl 74_37 -1 known frame_shift_del c.3236 p.K1079fs 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 231 2 0.858369 126 27 17.6471 ACAP2 0 genome.wustl.edu 37 3 195047635 195047635 + Frame_Shift_Del DEL T T - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 3 195047635 195047635 T - DEL ACAP2 ENST00000326793 human ensembl 74_37 -1 known frame_shift_del c.723 p.K241fs 0.999 NULL 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 ACAP2 HGNC ENSG00000114331 64 0 0 83 7 7.77778 WHSC1 0 genome.wustl.edu 37 4 1955189 1955190 + Frame_Shift_Ins INS - - C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 1955189 1955190 - C INS WHSC1 ENST00000382891 human ensembl 74_37 +1 known frame_shift_ins c.2276_2277 p.L761fs 1.000:1.000 smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_RING 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 441 0 0 289 24 7.66773 DOK7 0 genome.wustl.edu 37 4 3487344 3487344 + Frame_Shift_Del DEL C C - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 4 3487344 3487344 C - DEL DOK7 ENST00000389653 human ensembl 74_37 +1 known frame_shift_del c.611 p.T206fs 1.000 pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 32 0 0 28 4 12.5 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 173 1 0.574713 87 17 16.3462 ZDHHC11 0 genome.wustl.edu 37 5 850567 850587 + In_Frame_Del DEL CCACGAAGACAGCCCAGGTCA CCACGAAGACAGCCCAGGTCA - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 CCACGAAGACAGCCCAGGTCA CCACGAAGACAGCCCAGGTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 850567 850587 CCACGAAGACAGCCCAGGTCA - DEL ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known in_frame_del c.151_131 p.VTWAVFV44in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.967:0.980:0.964:0.540:0.386:0.201:0.001:0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 93 0 0 54 9 14.2857 ZDHHC11 0 genome.wustl.edu 37 5 850680 850680 + Frame_Shift_Del DEL G G - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 850680 850680 G - DEL ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known frame_shift_del c.38 p.P13fs 0.802 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 200 0 0 79 39 33.0508 ERAP2 0 genome.wustl.edu 37 5 96249105 96249105 + Frame_Shift_Del DEL G G - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 5 96249105 96249105 G - DEL ERAP2 ENST00000437043 human ensembl 74_37 +1 known frame_shift_del c.2601 p.Q869fs 0.006 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 42 0 0 22 4 15.3846 ARG1 0 genome.wustl.edu 37 6 131894346 131894346 + RNA DEL A A - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 6 131894346 131894346 A - DEL ARG1 ENST00000469293 human ensembl 74_37 +1 known rna NULL NULL 0.285 - - - no_errors ARG1 HGNC ENSG00000118520 55 0 0 15 7 31.8182 TMEM168 0 genome.wustl.edu 37 7 112424808 112424811 + Frame_Shift_Del DEL TATT TATT - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 TATT TATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 7 112424808 112424811 TATT - DEL TMEM168 ENST00000312814 human ensembl 74_37 -1 known frame_shift_del c.73_70 p.N24fs 0.999:0.997:1.000:1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 51 0 0 9 5 35.7143 CEL 0 genome.wustl.edu 37 9 135946988 135946988 + Frame_Shift_Del DEL C C - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 9 135946988 135946988 C - DEL CEL ENST00000372080 human ensembl 74_37 +1 known frame_shift_del c.2108 p.V706fs 0.002 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 9 0 0 4 6 60